Schistosomiasis

Infectious Disease MONDO:0015254 Pathograph 4 Show in embeddings browser Helminth infection Neglected tropical disease

Schistosomiasis is a helminth infection caused by blood flukes of the genus Schistosoma, with disease driven by egg deposition that triggers granulomatous inflammation in intestinal, hepatosplenic, and urogenital tissues.

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⚙

Pathophysiology

5
Adult worm residence in mesenteric or pelvic veins
Adult schistosomes inhabit mesenteric or pelvic veins, enabling egg deposition into stool or urine.
Show evidence (1 reference)
PMID:30093684 SUPPORT
"Mature adult worms reside in the mesenteric (Schistosoma mansoni and Schistosoma japonicum) or pelvic (Schistosoma haematobium) veins"
The abstract localizes adult worms to mesenteric or pelvic venous beds.
Egg trapping triggers granulomatous inflammation
Eggs lodged in tissues such as the liver or bladder provoke granulomatous inflammatory responses.
liver UBERON:0002107 Uberon multi-species anatomy ontology (UBERON) Relation: this pathophysiological event occurs in this anatomical location This pathophysiological event occurs in liver (UBERON:0002107). UBERON:0002107 is an anatomical location from the Uberon multi-species anatomy ontology. urinary bladder UBERON:0001255 Uberon multi-species anatomy ontology (UBERON) Relation: this pathophysiological event occurs in this anatomical location This pathophysiological event occurs in urinary bladder (UBERON:0001255). UBERON:0001255 is an anatomical location from the Uberon multi-species anatomy ontology.
Downstream
Urogenital inflammation and scarring Granulomatous inflammation around eggs trapped in the bladder and urogenital tissues produces urogenital inflammation and scarring.
Show evidence (1 reference)
PMID:30093684 SUPPORT
"Eggs trapped in the surrounding tissues and organs, such as the liver and bladder, cause inflammatory immune responses (including granulomas)"
Trapped eggs drive inflammatory granulomas in liver and bladder tissue.
Periportal fibrosis with portal hypertension
Chronic egg-driven inflammation promotes periportal fibrosis and portal hypertension.
liver UBERON:0002107 Uberon multi-species anatomy ontology (UBERON) Relation: this pathophysiological event occurs in this anatomical location This pathophysiological event occurs in liver (UBERON:0002107). UBERON:0002107 is an anatomical location from the Uberon multi-species anatomy ontology.
Show evidence (1 reference)
PMID:24698483 SUPPORT
"periportal fibrosis with portal hypertension"
The review links egg-induced pathology to periportal fibrosis and portal hypertension.
Urogenital inflammation and scarring
Egg-induced immune responses cause urogenital inflammation and tissue scarring.
Downstream
Chronic bladder mucosal injury Persistent egg-driven inflammation and scarring of the bladder wall is the chronic mucosal injury on which squamous-cell carcinoma arises.
Show evidence (1 reference)
PMID:24698483 SUPPORT
"urogenital inflammation and scarring"
The abstract lists urogenital inflammation and scarring as organ-specific effects.
Chronic bladder mucosal injury
Persistent inflammation and fibrosis of the bladder wall produced by S. haematobium eggs lodged there over years of infection. It is the chronic bladder lesion on which squamous-cell carcinoma arises; the carcinoma is often multifocal and, in endemic regions, presents at a younger age than transitional-cell bladder carcinoma.
urinary bladder UBERON:0001255 Uberon multi-species anatomy ontology (UBERON) Relation: this pathophysiological event occurs in this anatomical location This pathophysiological event occurs in urinary bladder (UBERON:0001255). UBERON:0001255 is an anatomical location from the Uberon multi-species anatomy ontology.
Downstream
Bladder Carcinoma Chronic S. haematobium-driven bladder mucosal injury is strongly associated with malignant transformation to squamous-cell carcinoma of the bladder.
Show evidence (2 references)
PMID:24698483 SUPPORT REVIEW SYNTHESIS Human clinical
"Squamous-cell carcinoma of the bladder is also strongly associated with S haematobium infection."
Establishes the association between chronic S. haematobium infection and bladder squamous-cell carcinoma.
PMID:24698483 SUPPORT REVIEW SYNTHESIS Human clinical
"This tumour is often multifocal, and in regions endemic for S haematobium, occurs at a younger age than do transitional-cell bladder carcinomas."
Supports the multifocality and younger age at onset stated in the description.
⬡

Pathograph

Use Group by to collapse related nodes into one box. Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Schistosomiasis Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.
●

Phenotypes

6
Blood 1
Anemia HP:0001903 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Anemia (HP:0001903). HP:0001903 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:24698483 SUPPORT
"anaemia, growth stunting, impaired cognition, and decreased physical fitness"
Schistosomiasis is associated with anaemia in the listed systemic effects.
Cardiovascular 1
Hepatosplenomegaly HP:0001433 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Hepatosplenomegaly (HP:0001433). HP:0001433 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:24698483 SUPPORT
"severe hepatosplenism"
Hepatosplenism reflects hepatosplenic involvement consistent with hepatosplenomegaly.
Genitourinary 2
Hematuria HP:0000790 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Hematuria (HP:0000790). HP:0000790 is a phenotype from the Human Phenotype Ontology.
Specific to S. haematobium (urogenital schistosomiasis) rather than a general Schistosoma spp. feature; appears within about 3 months of infection.
Show evidence (1 reference)
PMID:22786992 SUPPORT
"Hematuria, dysuria, and hemospermia, early clinical signs of an established S haematobium infection, appear within 3 months after infection."
The review identifies hematuria as an early, characteristic clinical sign of S. haematobium genitourinary infection.
Bladder Carcinoma HP:0002862 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Squamous-cell carcinoma of the bladder, annotated with Bladder carcinoma (HP:0002862). HP:0002862 is a phenotype from the Human Phenotype Ontology.
Specific to S. haematobium (urogenital schistosomiasis); the schistosomiasis-associated histology is squamous-cell carcinoma, which is often multifocal and, in endemic regions, arises at a younger age than transitional-cell bladder carcinoma.
Show evidence (2 references)
PMID:24698483 SUPPORT REVIEW SYNTHESIS Human clinical
"Squamous-cell carcinoma of the bladder is also strongly associated with S haematobium infection."
The review documents bladder squamous-cell carcinoma as a recognized complication of S. haematobium infection.
PMID:24698483 SUPPORT REVIEW SYNTHESIS Human clinical
"This tumour is often multifocal, and in regions endemic for S haematobium, occurs at a younger age than do transitional-cell bladder carcinomas."
Supports the multifocality and younger age at onset recorded in the notes.
Nervous System 1
Impaired Cognition Cognitive impairment HP:0100543 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Impaired cognition, annotated with Cognitive impairment (HP:0100543). HP:0100543 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:24698483 SUPPORT
"anaemia, growth stunting, impaired cognition, and decreased physical fitness"
The review lists impaired cognition among the systemic effects of chronic schistosome infection.
Growth 1
Growth Stunting Growth delay HP:0001510 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Growth stunting, annotated with Growth delay (HP:0001510). HP:0001510 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:24698483 SUPPORT
"anaemia, growth stunting, impaired cognition, and decreased physical fitness"
The review lists growth stunting among the systemic effects of chronic schistosome infection.
💊

Medical Actions

1
Praziquantel mass drug administration
Action: PharmacotherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Pharmacotherapy (NCIT:C15986). NCIT:C15986 is a clinical intervention from the NCI Thesaurus. NCIT:C15986
Agent: praziquantel CHEBI:45267 Chemical Entities of Biological Interest (CHEBI) Relation: this treatment uses this therapeutic agent This treatment uses praziquantel (CHEBI:45267). CHEBI:45267 is a therapeutic agent from Chemical Entities of Biological Interest.
Periodic praziquantel treatment to suppress morbidity in endemic regions.
Show evidence (1 reference)
PMID:24698483 SUPPORT
"treatment once every 1 or 2 years with the isoquinolinone drug, praziquantel, to suppress morbidity"
The review describes periodic praziquantel treatment as standard preventive therapy.
🔬

Diagnosis

4
Stool microscopy for eggs (Kato-Katz)
Kato-Katz thick smears of stool are examined microscopically for the eggs of the intestinal species (S. mansoni, S. japonicum), the standard diagnostic method in endemic regions. Microscopy is affordable and highly specific but insensitive, and the egg count per gram of stool is the measure of infection intensity. WHO guidelines define heavy-intensity S. mansoni infection as 400 or more eggs per gram of stool and use its prevalence to judge whether morbidity is controlled.
Schistosoma eggs in stool LOINC:11085-8 Logical Observation Identifiers Names and Codes (LOINC)
LOINC has no Kato-Katz or Schistosoma eggs-per-gram code in the Monarch KG (searches "Kato-Katz", "Schistosoma eggs", "Schistosoma eggs [#/mass]", "Schistosoma mansoni [#/mass] in Stool", "Ova count per gram stool", "Schistosoma sp identified in Stool"). The only stool Schistosoma code returned is bound for the qualitative egg finding; it names a concentration method, whereas Kato-Katz is a quantitative thick smear, so it identifies the analyte and specimen but not the technique. Because no code carries the egg count, the WHO heavy-intensity threshold is stated in the description with its evidence and not as a reference range. The cited source states only the heavy-intensity threshold, not the light and moderate classes.
Show evidence (5 references)
PMID:38990839 SUPPORT Other
"This detection method involves utilizing Kato–Katz (KK) and urine filtration techniques to prepare stool and urine samples, respectively. Subsequently, the samples undergo microscopic examination to detect intestinal and urogenital schistosomiasis"
Names Kato-Katz stool microscopy as the endemic-area method for intestinal schistosomiasis.
PMID:24698483 SUPPORT Other
"The diagnostic standard for active schistosomiasis is viable eggs in urine (S haematobium), faeces (S japonicum, S mansoni), or tissue biopsies."
Egg detection in stool or urine is the diagnostic standard, stool for the intestinal species and urine for S. haematobium.
PMID:38990839 SUPPORT Other
"the diagnosis of schistosomiasis is routinely carried out using microscopy, which though affordable and highly specific, is less sensitive"
Microscopy is the routine test, specific but insensitive.
+ 2 more references
Urine microscopy for eggs (urine filtration)
Urine is filtered and the filter examined microscopically for the eggs of S. haematobium, the cause of urogenital schistosomiasis; egg count per 10 mL of urine is the intensity measure. WHO guidelines define heavy-intensity S. haematobium infection as 50 or more eggs per 10 mL of urine.
Schistosoma eggs in urine LOINC:10715-1 Logical Observation Identifiers Names and Codes (LOINC)
No method-less urine Schistosoma identification code was returned by Monarch KG searches for "Schistosoma identified in Urine", "Schistosoma sp identified" and "Schistosoma haematobium"; the urine-sediment light-microscopy code is bound for the qualitative egg finding. It names sediment rather than filtration. The S. haematobium count codes returned are computer-assisted-method codes and are not bound. No code carries the egg count per 10 mL, so the heavy-intensity threshold is stated in the description and not as a reference range.
Show evidence (2 references)
PMID:38990839 SUPPORT Other
"This detection method involves utilizing Kato–Katz (KK) and urine filtration techniques to prepare stool and urine samples, respectively. Subsequently, the samples undergo microscopic examination to detect intestinal and urogenital schistosomiasis"
Names urine filtration microscopy as the method for urogenital schistosomiasis.
PMID:34307724 SUPPORT Human clinical
"Heavy-intensity infection was defined as ≥50 eggs per 10 mL of urine"
The S. haematobium heavy-intensity threshold used in the monitoring cohorts.
Circulating antigen detection (CCA and CAA)
The circulating cathodic antigen (CCA) and circulating anodic antigen (CAA) are released from the gut of adult worms and excreted in urine, so a positive result indicates active infection. A point-of-care urine CCA lateral-flow cassette is commercially available, appears more sensitive than Kato-Katz for mapping S. mansoni, and is WHO recommended for S. mansoni surveillance, though its performance varies between batches. Neither antigen detects prepatent infection.
No LOINC code is bound: searches of the Monarch KG for "Schistosoma Ag", "Schistosoma antigen", "Schistosoma circulating cathodic antigen", "Schistosoma CCA" and "Schistosoma CAA" returned no Schistosoma antigen code.
Show evidence (4 references)
PMID:38990839 SUPPORT Other
"The CCA and CAA are regurgitated from the gut of schistosomes, excreted in the patient’s urine, and positive results indicate an active infection."
Explains why urine CCA and CAA indicate active infection.
PMID:38990839 SUPPORT Other
"Protein-based biomarkers (CCA, CAA, and antibodies) are also ubiquitous targets for Schistosoma infection, with POC-CCA being WHO recommended for surveillance of S. mansoni"
The urine CCA point-of-care test is WHO recommended for S. mansoni surveillance.
PMID:38990839 SUPPORT Other
"CCA and CAA are also inappropriate biomarkers for detecting prepatent infection"
Antigen tests miss infection before egg laying begins.
+ 1 more reference
Schistosoma antibody serology
Antibodies against schistosome antigens are detected in serum. Serology is clinically useful, especially for symptomatic travellers, but in endemic regions it cannot tell active infection from past exposure.
Schistosoma antibody LOINC:8020-0 Logical Observation Identifiers Names and Codes (LOINC)
The method-less genus-level antibody presence code is bound rather than one code per method (immunoassay, immunoblot, hemagglutination, immunofluorescence) or per species. Qualitative result; no reference_ranges.
Show evidence (2 references)
PMID:38990839 SUPPORT Other
"Schistosoma infections may also induce the production of antibodies, which can be used as diagnostic markers."
Antibody detection is a diagnostic test for schistosomiasis.
PMID:24698483 SUPPORT Other
"for people in regions endemic for schistosomiasis, serology is unable to discriminate between active infection and past exposure."
Limits serology in endemic populations, where it does not distinguish current from past infection.
📈

Progression

5
Cercarial penetration and cercarial dermatitis
Swimmer's itch: an immediate pruritic eruption at the sites where cercariae penetrate the skin after freshwater exposure.
Show evidence (1 reference)
PMID:36096120 SUPPORT Other
"The literature classically describes three forms of skin disease in those infected with Schistosoma: the immediate pruritic eruption of cercarial dermatitis, the urticarial response of Katayama syndrome, and the granulomatous lesions of late cutaneous schistosomiasis."
Places cercarial dermatitis as the immediate skin phase of infection.
Prepatent period
Duration: About 5-7 weeks from skin penetration to egg production
Schistosomula migrate and mature into adult worms; infection is established but eggs are not yet detectable in stool or urine.
Show evidence (1 reference)
PMID:24698483 SUPPORT Other
"After cercariae penetrate the skin of the mammalian host, the maturing larvae (schistosomula) need about 5–7 weeks before becoming adults and producing eggs."
Gives the length of the prepatent period in the human host.
Acute schistosomiasis (Katayama syndrome)
Duration: 2-10 weeks
Weeks to months after a first heavy exposure, mostly in non-immune travellers and migrants: sudden fever, malaise, myalgia, headache, eosinophilia, fatigue and abdominal pain, driven by egg antigen release and florid granulomatous and immune-complex responses as worms mature.
Show evidence (3 references)
PMID:24698483 SUPPORT Other
"Acute schistosomiasis occurs most often in travellers or immigrants to schistosome-endemic regions who are exposed to schistosome antigens for the first time at an older age than usual."
Identifies who develops the acute phase.
PMID:24698483 SUPPORT Other
"It occurs weeks to months after infection, as a consequence of worm maturation, egg production, release of egg antigen, and the host's florid granulomatous and immune complex responses."
Times the acute phase and gives its mechanism.
PMID:24698483 SUPPORT Other
"Acute schistosomiasis is sometimes referred to as Katayama syndrome and the typical clinical presentation is a sudden onset of fever, malaise, myalgia, headache, eosinophilia, fatigue, and abdominal pain lasting 2–10 weeks."
Names the syndrome, its presentation and its duration.
Chronic schistosomiasis (egg-granuloma disease)
Duration: Years, sustained by repeated re-infection in endemic areas
The predominant form in endemic regions. Eggs retained in the intestine and liver (S. mansoni, S. japonicum, S. mekongi) or the bladder and urogenital tract (S. haematobium) provoke granulomatous inflammation; as the granulomatous response is down-regulated the disease settles into chronic intestinal or urogenital schistosomiasis with intermittent symptoms related to infection intensity.
Show evidence (2 references)
PMID:24698483 SUPPORT Other
"In regions endemic for schistosomiasis the most prevalent form of the disease is chronic schistosomiasis, resulting from repeated exposure to infectious cercariae."
Establishes chronic disease as the predominant endemic form.
PMID:24698483 SUPPORT Other
"Over time, the granulomatous response to eggs is downregulated through several mechanisms in most individuals, leading to progression to the chronic intestinal form of the disease for S mansoni, S japonicum, and S mekongi."
Describes the transition from acute to chronic disease.
Advanced (late) disease
Duration: Usually 5-15 years from infection to advanced fibrosis
In the minority who poorly regulate the anti-egg response: hepatosplenic schistosomiasis with Symmers periportal fibrosis, portal hypertension and variceal bleeding; or, in urogenital disease, obstructive uropathy with calcification and strictures of the urinary tract, and genital involvement.
Show evidence (6 references)
PMID:24698483 SUPPORT Other
"consequently develop extensive fibrosis and subsequent hepatosplenic disease with periportal fibrosis"
Describes progression to hepatosplenic disease.
PMID:24698483 SUPPORT Other
"The time from initial infection to advanced fibrosis is usually 5–15 years."
Gives the time from infection to advanced fibrosis.
PMID:24698483 SUPPORT Other
"Ascites and haematemesis from oesophageal varices as a complication of portal hypertension can rapidly lead to death."
Names the lethal complications of advanced hepatosplenic disease.
+ 3 more references
🦠

Infectious Agent

1
Schistosoma spp.
Blood flukes responsible for human schistosomiasis.
Schistosoma NCBITaxon:6181 NCBI Taxonomy (NCBITaxon)
Show evidence (1 reference)
PMID:30093684 SUPPORT
"caused by parasitic flatworms (blood flukes) of the genus Schistosoma"
The review identifies Schistosoma blood flukes as the causative agents.
↔️

Transmission

1
Freshwater cercarial skin penetration
Infective larvae released from freshwater snails penetrate human skin.
Show evidence (1 reference)
PMID:30093684 SUPPORT
"Infective larvae grow in an intermediate host (fresh-water snails) before penetrating the skin of the definitive human host."
The abstract specifies snail intermediate hosts and skin penetration.
📊

Related Datasets

6
Temporal modulation of gene expression in a controlled Schistosoma mansoni human infection model geo:GSE313156
Background Schistosomiasis is caused by parasitic blood flukes of the genus Schistosoma. Despite ongoing mass drug administration efforts, the disease remains a major public health burden in endemic regions. A better understanding of early host responses to schistosomiasis is critical for developing effective vaccines and therapeutics. Methods We conducted a longitudinal transcriptomic study of peripheral blood samples from 30 Schistosoma-naïve volunteers participating in two controlled human infection trials with male-or female-only S. mansoni cercariae. Blood was collected at six time points over 20 weeks post-infection.
human BULK RNA SEQ n=144
PMID:41476985
Identified by GEO DataSets index search for Schistosomiasis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
A Novel Combination Therapy with Uridine and Praziquantel effectively Alleviates Schistosomiasis-induced Hepatic Fibrosis through Promoting Adipogenic Differentiation geo:GSE289753
Schistosomiasis-induced hepatic fibrosis, a consequence of egg-induced granulomatous lesions, remains untreated by current drugs. Therefore, the development of novel antifibrosis drugs is of paramount importance. Our previous study indicated that aberrant uridine concentrations play a pivotal role in schistosomiasis-induced hepatic fibrosis. This study aimed to explore the inhibitory role of uridine in schistosomiasis-induced liver fibrosis and the regulatory mechanism of uridine on hepatic stellate cell (HSC) activation. The results indicated that uridine could inhibit schistosomiasis-induced liver fibrosis in vivo and TGF-β-induced HSC activation in vitro.
human BULK RNA SEQ n=9
Identified by GEO DataSets index search for Schistosomiasis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
Verification of gene expression profiles in the liver tissues of mice after schistosomiasis infection geo:GSE298216
In order to further improve our method for measuring gene expression after different days of schistosomiasis infection, we adopted whole-genome microarray expression analysis as the sequencing platform to identify those genes with potential for distinguishing different infection times (applicable for the corresponding exposure range of medical decisions in cases of schistosomiasis infection after different days). We infected 15-day, 24-day and 45-day healthy mice with schistosomiasis and determined a consensus characteristic of successful schistosomiasis infection, which could distinguish infection days and control samples.
mouse MICROARRAY n=7
Identified by GEO DataSets index search for Schistosomiasis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
Metabolome profiles in urogenital schistosomiasis and associated pathologies metabolomics_workbench:ST000934
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Schistosomiasis"). Retrieved 2026-08-02.
Metabolome profiles in urogenital schistosomiasis and associated pathologies (part II) metabolomics_workbench:ST000973
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Schistosomiasis"). Retrieved 2026-08-02.
Schistosomiasis Metabolites Mining by SPME Dataset massive:MSV000096452
Data was acquired on schistosomiasis infected samples (Mohembo, Ngarange, Sekondomboro and Xakau) and control samples (Sepopa).
Located via OmicsDI, which aggregates across omics repositories; this record comes from massive. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Schistosomiasis"). Retrieved 2026-08-02.
{ }

Source YAML

click to show 
name: Schistosomiasis
creation_date: '2026-01-26T03:01:01Z'
category: Infectious Disease
description: >-
  Schistosomiasis is a helminth infection caused by blood flukes of the genus
  Schistosoma, with disease driven by egg deposition that triggers granulomatous
  inflammation in intestinal, hepatosplenic, and urogenital tissues.
disease_term:
  term:
    id: MONDO:0015254
    label: schistosomiasis
  preferred_term: Schistosomiasis
parents:
- Helminth infection
- Neglected tropical disease
infectious_agent:
- name: Schistosoma spp.
  infectious_agent_term:
    preferred_term: Schistosoma
    term:
      id: NCBITaxon:6181
      label: Schistosoma
  description: Blood flukes responsible for human schistosomiasis.
  evidence:
  - reference: PMID:30093684
    reference_title: "Schistosomiasis."
    supports: SUPPORT
    snippet: "caused by parasitic flatworms (blood flukes) of the genus Schistosoma"
    explanation: The review identifies Schistosoma blood flukes as the causative agents.
agent_life_cycle:
  description: Schistosome life cycle stages spanning freshwater snails and human blood vessels.
  hosts:
  - preferred_term: fresh-water snails
    term:
      id: NCBITaxon:6448
      label: Gastropoda
    role: intermediate host
  - preferred_term: humans
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
    role: definitive host
  life_cycle_stages:
  - name: Snail intermediate host development and skin penetration
    life_cycle_stage_term:
      preferred_term: cercaria stage
      term:
        id: OPL:0000070
        label: cercaria stage
    description: Infective larvae develop in freshwater snails and then penetrate human skin.
    evidence:
    - reference: PMID:30093684
      reference_title: "Schistosomiasis."
      supports: SUPPORT
      snippet: "Infective larvae grow in an intermediate host (fresh-water snails) before penetrating the skin of the definitive human host."
      explanation: The abstract describes development in snails followed by human skin penetration.
  - name: Adult worms in mesenteric or pelvic veins with egg excretion
    life_cycle_stage_term:
      preferred_term: adult parasitic worm stage
      term:
        id: OPL:0000237
        label: adult parasitic worm stage
    description: Adult worms reside in mesenteric or pelvic veins and lay eggs that are excreted in stool or urine.
    evidence:
    - reference: PMID:30093684
      reference_title: "Schistosomiasis."
      supports: SUPPORT
      snippet: "Mature adult worms reside in the mesenteric (Schistosoma mansoni and Schistosoma japonicum) or pelvic (Schistosoma haematobium) veins, where female worms lay eggs, which are secreted in stool or urine."
      explanation: The abstract specifies adult worm location and egg excretion routes.
  - name: Egg trapping in tissues drives granulomatous inflammation
    life_cycle_stage_term:
      preferred_term: egg stage
      term:
        id: OPL:0000180
        label: egg stage
    description: Eggs lodged in tissues such as the liver or bladder induce granulomatous inflammation.
    evidence:
    - reference: PMID:30093684
      reference_title: "Schistosomiasis."
      supports: SUPPORT
      snippet: "Eggs trapped in the surrounding tissues and organs, such as the liver and bladder, cause inflammatory immune responses (including granulomas)"
      explanation: The abstract links trapped eggs to granulomatous inflammation.
transmission:
- name: Freshwater cercarial skin penetration
  description: Infective larvae released from freshwater snails penetrate human skin.
  evidence:
  - reference: PMID:30093684
    reference_title: "Schistosomiasis."
    supports: SUPPORT
    snippet: "Infective larvae grow in an intermediate host (fresh-water snails) before penetrating the skin of the definitive human host."
    explanation: The abstract specifies snail intermediate hosts and skin penetration.
pathophysiology:
- name: Adult worm residence in mesenteric or pelvic veins
  description: Adult schistosomes inhabit mesenteric or pelvic veins, enabling egg deposition into stool or urine.
  evidence:
  - reference: PMID:30093684
    reference_title: "Schistosomiasis."
    supports: SUPPORT
    snippet: "Mature adult worms reside in the mesenteric (Schistosoma mansoni and Schistosoma japonicum) or pelvic (Schistosoma haematobium) veins"
    explanation: The abstract localizes adult worms to mesenteric or pelvic venous beds.
- name: Egg trapping triggers granulomatous inflammation
  description: Eggs lodged in tissues such as the liver or bladder provoke granulomatous inflammatory responses.
  locations:
  - preferred_term: liver
    term:
      id: UBERON:0002107
      label: liver
  - preferred_term: urinary bladder
    term:
      id: UBERON:0001255
      label: urinary bladder
  evidence:
  - reference: PMID:30093684
    reference_title: "Schistosomiasis."
    supports: SUPPORT
    snippet: "Eggs trapped in the surrounding tissues and organs, such as the liver and bladder, cause inflammatory immune responses (including granulomas)"
    explanation: Trapped eggs drive inflammatory granulomas in liver and bladder tissue.
  downstream:
  - target: Urogenital inflammation and scarring
    description: >-
      Granulomatous inflammation around eggs trapped in the bladder and
      urogenital tissues produces urogenital inflammation and scarring.
- name: Periportal fibrosis with portal hypertension
  description: Chronic egg-driven inflammation promotes periportal fibrosis and portal hypertension.
  locations:
  - preferred_term: liver
    term:
      id: UBERON:0002107
      label: liver
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    snippet: "periportal fibrosis with portal hypertension"
    explanation: The review links egg-induced pathology to periportal fibrosis and portal hypertension.
- name: Urogenital inflammation and scarring
  description: Egg-induced immune responses cause urogenital inflammation and tissue scarring.
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    snippet: "urogenital inflammation and scarring"
    explanation: The abstract lists urogenital inflammation and scarring as organ-specific effects.
  downstream:
  - target: Chronic bladder mucosal injury
    description: >-
      Persistent egg-driven inflammation and scarring of the bladder wall is
      the chronic mucosal injury on which squamous-cell carcinoma arises.
- name: Chronic bladder mucosal injury
  description: >-
    Persistent inflammation and fibrosis of the bladder wall produced by
    S. haematobium eggs lodged there over years of infection. It is the
    chronic bladder lesion on which squamous-cell carcinoma arises; the
    carcinoma is often multifocal and, in endemic regions, presents at a
    younger age than transitional-cell bladder carcinoma.
  locations:
  - preferred_term: urinary bladder
    term:
      id: UBERON:0001255
      label: urinary bladder
  downstream:
  - target: Bladder Carcinoma
    description: >-
      Chronic S. haematobium-driven bladder mucosal injury is strongly
      associated with malignant transformation to squamous-cell carcinoma of
      the bladder.
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    quote_role: REVIEW_SYNTHESIS
    snippet: "Squamous-cell carcinoma of the bladder is also strongly associated with S haematobium infection."
    explanation: Establishes the association between chronic S. haematobium infection and bladder squamous-cell carcinoma.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    quote_role: REVIEW_SYNTHESIS
    snippet: "This tumour is often multifocal, and in regions endemic for S haematobium, occurs at a younger age than do transitional-cell bladder carcinomas."
    explanation: Supports the multifocality and younger age at onset stated in the description.
phenotypes:
- name: Anemia
  category: Hematologic
  # frequency intentionally omitted: the snippet lists anaemia among systemic
  # effects but gives no frequency figure.
  phenotype_term:
    preferred_term: Anemia
    term:
      id: HP:0001903
      label: Anemia
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    snippet: "anaemia, growth stunting, impaired cognition, and decreased physical fitness"
    explanation: Schistosomiasis is associated with anaemia in the listed systemic effects.
- name: Hepatosplenomegaly
  category: Hepatic
  # frequency intentionally omitted: "severe hepatosplenism" attests the
  # association but provides no frequency.
  phenotype_term:
    preferred_term: Hepatosplenomegaly
    term:
      id: HP:0001433
      label: Hepatosplenomegaly
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    snippet: "severe hepatosplenism"
    explanation: Hepatosplenism reflects hepatosplenic involvement consistent with hepatosplenomegaly.
- name: Hematuria
  category: Genitourinary
  # frequency intentionally omitted: the snippet establishes hematuria as an
  # early clinical sign but gives no frequency figure.
  notes: >-
    Specific to S. haematobium (urogenital schistosomiasis) rather than a
    general Schistosoma spp. feature; appears within about 3 months of
    infection.
  phenotype_term:
    preferred_term: Hematuria
    term:
      id: HP:0000790
      label: Hematuria
  evidence:
  - reference: PMID:22786992
    reference_title: "Genitourinary schistosomiasis: life cycle and radiologic-pathologic findings."
    supports: SUPPORT
    snippet: "Hematuria, dysuria, and hemospermia, early clinical signs of an established S haematobium infection, appear within 3 months after infection."
    explanation: The review identifies hematuria as an early, characteristic clinical sign of S. haematobium genitourinary infection.
- name: Growth Stunting
  category: Growth
  # frequency intentionally omitted: the snippet lists growth stunting among
  # systemic effects but gives no frequency figure.
  phenotype_term:
    preferred_term: Growth stunting
    term:
      id: HP:0001510
      label: Growth delay
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    snippet: "anaemia, growth stunting, impaired cognition, and decreased physical fitness"
    explanation: The review lists growth stunting among the systemic effects of chronic schistosome infection.
- name: Impaired Cognition
  category: Neurologic
  # frequency intentionally omitted: the snippet lists impaired cognition
  # among systemic effects but gives no frequency figure.
  phenotype_term:
    preferred_term: Impaired cognition
    term:
      id: HP:0100543
      label: Cognitive impairment
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    snippet: "anaemia, growth stunting, impaired cognition, and decreased physical fitness"
    explanation: The review lists impaired cognition among the systemic effects of chronic schistosome infection.
- name: Bladder Carcinoma
  category: Genitourinary
  # frequency intentionally omitted: the snippet establishes a strong
  # association but gives no frequency figure.
  notes: >-
    Specific to S. haematobium (urogenital schistosomiasis); the
    schistosomiasis-associated histology is squamous-cell carcinoma, which is
    often multifocal and, in endemic regions, arises at a younger age than
    transitional-cell bladder carcinoma.
  phenotype_term:
    preferred_term: Squamous-cell carcinoma of the bladder
    term:
      id: HP:0002862
      label: Bladder carcinoma
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    quote_role: REVIEW_SYNTHESIS
    snippet: "Squamous-cell carcinoma of the bladder is also strongly associated with S haematobium infection."
    explanation: The review documents bladder squamous-cell carcinoma as a recognized complication of S. haematobium infection.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    quote_role: REVIEW_SYNTHESIS
    snippet: "This tumour is often multifocal, and in regions endemic for S haematobium, occurs at a younger age than do transitional-cell bladder carcinomas."
    explanation: Supports the multifocality and younger age at onset recorded in the notes.
progression:
- phase: Cercarial penetration and cercarial dermatitis
  notes: >-
    Swimmer's itch: an immediate pruritic eruption at the sites where
    cercariae penetrate the skin after freshwater exposure.
  evidence:
  - reference: PMID:36096120
    reference_title: "Cutaneous schistosomiasis: epidemiological and clinical characteristics in returning travelers."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "The literature classically describes three forms of skin disease in those infected with Schistosoma: the immediate pruritic eruption of cercarial dermatitis, the urticarial response of Katayama syndrome, and the granulomatous lesions of late cutaneous schistosomiasis."
    explanation: Places cercarial dermatitis as the immediate skin phase of infection.
- phase: Prepatent period
  duration: About 5-7 weeks from skin penetration to egg production
  notes: >-
    Schistosomula migrate and mature into adult worms; infection is
    established but eggs are not yet detectable in stool or urine.
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "After cercariae penetrate the skin of the mammalian host, the maturing larvae (schistosomula) need about 5–7 weeks before becoming adults and producing eggs."
    explanation: Gives the length of the prepatent period in the human host.
- phase: Acute schistosomiasis (Katayama syndrome)
  duration: 2-10 weeks
  notes: >-
    Weeks to months after a first heavy exposure, mostly in non-immune
    travellers and migrants: sudden fever, malaise, myalgia, headache,
    eosinophilia, fatigue and abdominal pain, driven by egg antigen release
    and florid granulomatous and immune-complex responses as worms mature.
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Acute schistosomiasis occurs most often in travellers or immigrants to schistosome-endemic regions who are exposed to schistosome antigens for the first time at an older age than usual."
    explanation: Identifies who develops the acute phase.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "It occurs weeks to months after infection, as a consequence of worm maturation, egg production, release of egg antigen, and the host's florid granulomatous and immune complex responses."
    explanation: Times the acute phase and gives its mechanism.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Acute schistosomiasis is sometimes referred to as Katayama syndrome and the typical clinical presentation is a sudden onset of fever, malaise, myalgia, headache, eosinophilia, fatigue, and abdominal pain lasting 2–10 weeks."
    explanation: Names the syndrome, its presentation and its duration.
- phase: Chronic schistosomiasis (egg-granuloma disease)
  duration: Years, sustained by repeated re-infection in endemic areas
  notes: >-
    The predominant form in endemic regions. Eggs retained in the intestine
    and liver (S. mansoni, S. japonicum, S. mekongi) or the bladder and
    urogenital tract (S. haematobium) provoke granulomatous inflammation; as
    the granulomatous response is down-regulated the disease settles into
    chronic intestinal or urogenital schistosomiasis with intermittent
    symptoms related to infection intensity.
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "In regions endemic for schistosomiasis the most prevalent form of the disease is chronic schistosomiasis, resulting from repeated exposure to infectious cercariae."
    explanation: Establishes chronic disease as the predominant endemic form.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Over time, the granulomatous response to eggs is downregulated through several mechanisms in most individuals, leading to progression to the chronic intestinal form of the disease for S mansoni, S japonicum, and S mekongi."
    explanation: Describes the transition from acute to chronic disease.
- phase: Advanced (late) disease
  duration: Usually 5-15 years from infection to advanced fibrosis
  notes: >-
    In the minority who poorly regulate the anti-egg response: hepatosplenic
    schistosomiasis with Symmers periportal fibrosis, portal hypertension and
    variceal bleeding; or, in urogenital disease, obstructive uropathy with
    calcification and strictures of the urinary tract, and genital
    involvement.
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "consequently develop extensive fibrosis and subsequent hepatosplenic disease with periportal fibrosis"
    explanation: Describes progression to hepatosplenic disease.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "The time from initial infection to advanced fibrosis is usually 5–15 years."
    explanation: Gives the time from infection to advanced fibrosis.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Ascites and haematemesis from oesophageal varices as a complication of portal hypertension can rapidly lead to death."
    explanation: Names the lethal complications of advanced hepatosplenic disease.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "leading to chronic fibrosis of the urinary tract presenting as obstructive uropathy"
    explanation: Describes advanced urogenital disease.
  - reference: PMID:22786992
    reference_title: "Genitourinary schistosomiasis: life cycle and radiologic-pathologic findings."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "In the early stages, it primarily involves the bladder and ureters; later, the kidneys and genital organs are involved."
    explanation: Orders the anatomical spread of urogenital disease over time.
  - reference: PMID:22786992
    reference_title: "Genitourinary schistosomiasis: life cycle and radiologic-pathologic findings."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "Coarse calcification, fibrosis, and strictures are signs of chronic or late-stage schistosomiasis."
    explanation: Gives the imaging hallmarks of late-stage urogenital disease.
diagnosis:
- name: Stool microscopy for eggs (Kato-Katz)
  description: >-
    Kato-Katz thick smears of stool are examined microscopically for the eggs
    of the intestinal species (S. mansoni, S. japonicum), the
    standard diagnostic method in endemic regions. Microscopy is affordable
    and highly specific but insensitive, and the egg count per gram of stool
    is the measure of infection intensity. WHO guidelines define
    heavy-intensity S. mansoni infection as 400 or more eggs per gram of stool
    and use its prevalence to judge whether morbidity is controlled.
  measurements:
  - preferred_term: Schistosoma eggs in stool
    term:
      id: LOINC:11085-8
      label: Schistosoma sp identified in Stool by Concentration
  notes: >-
    LOINC has no Kato-Katz or Schistosoma eggs-per-gram code in the Monarch KG
    (searches "Kato-Katz", "Schistosoma eggs", "Schistosoma eggs [#/mass]",
    "Schistosoma mansoni [#/mass] in Stool", "Ova count per gram stool",
    "Schistosoma sp identified in Stool"). The only stool Schistosoma code
    returned is bound for the qualitative egg finding; it names a
    concentration method, whereas Kato-Katz is a quantitative thick smear, so
    it identifies the analyte and specimen but not the technique. Because no
    code carries the egg count, the WHO heavy-intensity threshold is stated in
    the description with its evidence and not as a reference range. The cited
    source states only the heavy-intensity threshold, not the light and
    moderate classes.
  evidence:
  - reference: PMID:38990839
    reference_title: "Schistosomiasis diagnosis: Challenges and opportunities for elimination."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      This detection method involves utilizing Kato–Katz (KK) and urine
      filtration techniques to prepare stool and urine samples, respectively.
      Subsequently, the samples undergo microscopic examination to detect
      intestinal and urogenital schistosomiasis
    explanation: >-
      Names Kato-Katz stool microscopy as the endemic-area method for
      intestinal schistosomiasis.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      The diagnostic standard for active schistosomiasis is viable eggs in
      urine (S haematobium), faeces (S japonicum, S mansoni), or tissue
      biopsies.
    explanation: >-
      Egg detection in stool or urine is the diagnostic standard, stool for
      the intestinal species and urine for S. haematobium.
  - reference: PMID:38990839
    reference_title: "Schistosomiasis diagnosis: Challenges and opportunities for elimination."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      the diagnosis of schistosomiasis is routinely carried out using
      microscopy, which though affordable and highly specific, is less
      sensitive
    explanation: >-
      Microscopy is the routine test, specific but insensitive.
  - reference: PMID:34307724
    reference_title: "Control and Elimination of Schistosomiasis as a Public Health Problem: Thresholds Fail to Differentiate Schistosomiasis Morbidity Prevalence in Children."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    quote_role: BACKGROUND
    snippet: >-
      Current World Health Organization guidelines utilize prevalence of
      heavy-intensity infections (PHIs), that is, ≥50 eggs per 10 mL of urine
      for Schistosoma haematobium and ≥400 eggs per gram of stool for S.
      mansoni
    explanation: >-
      States the WHO heavy-intensity egg-count thresholds for S. mansoni stool
      counts and S. haematobium urine counts.
  - reference: PMID:34307724
    reference_title: "Control and Elimination of Schistosomiasis as a Public Health Problem: Thresholds Fail to Differentiate Schistosomiasis Morbidity Prevalence in Children."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      For S. mansoni, the Kato-Katz technique with thick fecal smears
      microscopically examined for eggs was used.
    explanation: >-
      The monitoring cohorts measured S. mansoni infection by Kato-Katz egg
      counts.
- name: Urine microscopy for eggs (urine filtration)
  description: >-
    Urine is filtered and the filter examined microscopically for the eggs of
    S. haematobium, the cause of urogenital schistosomiasis; egg count per 10
    mL of urine is the intensity measure. WHO guidelines define
    heavy-intensity S. haematobium infection as 50 or more eggs per 10 mL of
    urine.
  measurements:
  - preferred_term: Schistosoma eggs in urine
    term:
      id: LOINC:10715-1
      label: Schistosoma sp identified in Urine sediment by Light microscopy
  notes: >-
    No method-less urine Schistosoma identification code was returned by
    Monarch KG searches for "Schistosoma identified in Urine", "Schistosoma sp
    identified" and "Schistosoma haematobium"; the urine-sediment
    light-microscopy code is bound for the qualitative egg finding. It names
    sediment rather than filtration. The S. haematobium count codes returned
    are computer-assisted-method codes and are not bound. No code carries the
    egg count per 10 mL, so the heavy-intensity threshold is stated in the
    description and not as a reference range.
  evidence:
  - reference: PMID:38990839
    reference_title: "Schistosomiasis diagnosis: Challenges and opportunities for elimination."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      This detection method involves utilizing Kato–Katz (KK) and urine
      filtration techniques to prepare stool and urine samples, respectively.
      Subsequently, the samples undergo microscopic examination to detect
      intestinal and urogenital schistosomiasis
    explanation: >-
      Names urine filtration microscopy as the method for urogenital
      schistosomiasis.
  - reference: PMID:34307724
    reference_title: "Control and Elimination of Schistosomiasis as a Public Health Problem: Thresholds Fail to Differentiate Schistosomiasis Morbidity Prevalence in Children."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Heavy-intensity infection was defined as ≥50 eggs per 10 mL of urine
    explanation: >-
      The S. haematobium heavy-intensity threshold used in the monitoring
      cohorts.
- name: Circulating antigen detection (CCA and CAA)
  description: >-
    The circulating cathodic antigen (CCA) and circulating anodic antigen
    (CAA) are released from the gut of adult worms and excreted in urine, so a
    positive result indicates active infection. A point-of-care urine CCA
    lateral-flow cassette is commercially available, appears more sensitive
    than Kato-Katz for mapping S. mansoni, and is WHO recommended for S. mansoni
    surveillance, though its performance varies between batches. Neither
    antigen detects prepatent infection.
  notes: >-
    No LOINC code is bound: searches of the Monarch KG for "Schistosoma Ag",
    "Schistosoma antigen", "Schistosoma circulating cathodic antigen",
    "Schistosoma CCA" and "Schistosoma CAA" returned no Schistosoma antigen
    code.
  evidence:
  - reference: PMID:38990839
    reference_title: "Schistosomiasis diagnosis: Challenges and opportunities for elimination."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      The CCA and CAA are regurgitated from the gut of schistosomes, excreted
      in the patient’s urine, and positive results indicate an active
      infection.
    explanation: >-
      Explains why urine CCA and CAA indicate active infection.
  - reference: PMID:38990839
    reference_title: "Schistosomiasis diagnosis: Challenges and opportunities for elimination."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      Protein-based biomarkers (CCA, CAA, and antibodies) are also ubiquitous
      targets for Schistosoma infection, with POC-CCA being WHO recommended
      for surveillance of S. mansoni
    explanation: >-
      The urine CCA point-of-care test is WHO recommended for S. mansoni
      surveillance.
  - reference: PMID:38990839
    reference_title: "Schistosomiasis diagnosis: Challenges and opportunities for elimination."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      CCA and CAA are also inappropriate biomarkers for detecting prepatent
      infection
    explanation: >-
      Antigen tests miss infection before egg laying begins.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      This lateral flow cassette assay works on urine and seems to be more
      sensitive than the Kato-Katz assay for mapping of S mansoni-endemic
      regions.
    explanation: >-
      The urine CCA cassette is more sensitive than Kato-Katz for mapping S.
      mansoni.
- name: Schistosoma antibody serology
  description: >-
    Antibodies against schistosome antigens are detected in serum. Serology is
    clinically useful, especially for symptomatic travellers, but in endemic
    regions it cannot tell active infection from past exposure.
  measurements:
  - preferred_term: Schistosoma antibody
    term:
      id: LOINC:8020-0
      label: Schistosoma sp Ab [Presence] in Serum
  notes: >-
    The method-less genus-level antibody presence code is bound rather than
    one code per method (immunoassay, immunoblot, hemagglutination,
    immunofluorescence) or per species. Qualitative result; no
    reference_ranges.
  evidence:
  - reference: PMID:38990839
    reference_title: "Schistosomiasis diagnosis: Challenges and opportunities for elimination."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      Schistosoma infections may also induce the production of antibodies,
      which can be used as diagnostic markers.
    explanation: >-
      Antibody detection is a diagnostic test for schistosomiasis.
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: >-
      for people in regions endemic for schistosomiasis, serology is unable to
      discriminate between active infection and past exposure.
    explanation: >-
      Limits serology in endemic populations, where it does not distinguish
      current from past infection.
treatments:
- name: Praziquantel mass drug administration
  description: Periodic praziquantel treatment to suppress morbidity in endemic regions.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: praziquantel
      term:
        id: CHEBI:45267
        label: praziquantel
  evidence:
  - reference: PMID:24698483
    reference_title: "Human schistosomiasis."
    supports: SUPPORT
    snippet: "treatment once every 1 or 2 years with the isoquinolinone drug, praziquantel, to suppress morbidity"
    explanation: The review describes periodic praziquantel treatment as standard preventive therapy.
references:
- reference: DOI:10.1371/journal.pgph.0002249
  title: 'The WHO atlas for female-genital schistosomiasis: Co-design of a practicable diagnostic guide, digital support and training'
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Up to 56 million young and adult women of African origin suffer from Female Genital Schistosomiasis (FGS).
    supporting_text: Up to 56 million young and adult women of African origin suffer from Female Genital Schistosomiasis (FGS).
    evidence:
    - reference: DOI:10.1371/journal.pgph.0002249
      reference_title: 'The WHO atlas for female-genital schistosomiasis: Co-design of a practicable diagnostic guide, digital support and training'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Up to 56 million young and adult women of African origin suffer from Female Genital Schistosomiasis (FGS).
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.1371/journal.pgph.0003221
  title: 'Community preferred drug delivery approaches for pilot roll-out of a potential novel paediatric schistosomiasis treatment option in two endemic counties of Kenya: A mixed methods study'
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Treating preschool age children (PSAC) for schistosomiasis has remained a challenge due to lack of a pediatric formulation.
    supporting_text: Treating preschool age children (PSAC) for schistosomiasis has remained a challenge due to lack of a pediatric formulation.
    evidence:
    - reference: DOI:10.1371/journal.pgph.0003221
      reference_title: 'Community preferred drug delivery approaches for pilot roll-out of a potential novel paediatric schistosomiasis treatment option in two endemic counties of Kenya: A mixed methods study'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Treating preschool age children (PSAC) for schistosomiasis has remained a challenge due to lack of a pediatric formulation.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.1371/journal.pgph.0004035
  title: Contextual factors influencing schistosomiasis treatment and identification of delivery platforms for arpraziquantel in hard-to-reach areas and populations in Homa Bay County, Kenya
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: A new formulation of praziquantel, arpraziquantel (arPZQ), has been developed for preschool-aged children (PSAC) to fill the treatment gap for this age group in schistosomiasis control and elimination programs.
    supporting_text: A new formulation of praziquantel, arpraziquantel (arPZQ), has been developed for preschool-aged children (PSAC) to fill the treatment gap for this age group in schistosomiasis control and elimination programs.
    evidence:
    - reference: DOI:10.1371/journal.pgph.0004035
      reference_title: Contextual factors influencing schistosomiasis treatment and identification of delivery platforms for arpraziquantel in hard-to-reach areas and populations in Homa Bay County, Kenya
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: A new formulation of praziquantel, arpraziquantel (arPZQ), has been developed for preschool-aged children (PSAC) to fill the treatment gap for this age group in schistosomiasis control and elimination programs.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.1371/journal.pntd.0012102
  title: Female genital schistosomiasis burden and risk factors in two endemic areas in Malawi nested in the Morbidity Operational Research for Bilharziasis Implementation Decisions (MORBID) cross-sectional study
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Female genital schistosomiasis (FGS), caused by the parasite Schistosoma haematobium (Sh), is prevalent in Sub-Saharan Africa.
    supporting_text: Female genital schistosomiasis (FGS), caused by the parasite Schistosoma haematobium (Sh), is prevalent in Sub-Saharan Africa.
    evidence:
    - reference: DOI:10.1371/journal.pntd.0012102
      reference_title: Female genital schistosomiasis burden and risk factors in two endemic areas in Malawi nested in the Morbidity Operational Research for Bilharziasis Implementation Decisions (MORBID) cross-sectional study
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Female genital schistosomiasis (FGS), caused by the parasite Schistosoma haematobium (Sh), is prevalent in Sub-Saharan Africa.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.1371/journal.pntd.0012282
  title: 'Schistosomiasis diagnosis: Challenges and opportunities for elimination'
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Overview The roadmap adopted by the World Health Organization (WHO) for eliminating neglected tropical diseases aims to eliminate schistosomiasis, as a public health concern, by 2030.
    supporting_text: Overview The roadmap adopted by the World Health Organization (WHO) for eliminating neglected tropical diseases aims to eliminate schistosomiasis, as a public health concern, by 2030.
    evidence:
    - reference: DOI:10.1371/journal.pntd.0012282
      reference_title: 'Schistosomiasis diagnosis: Challenges and opportunities for elimination'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Overview The roadmap adopted by the World Health Organization (WHO) for eliminating neglected tropical diseases aims to eliminate schistosomiasis, as a public health concern, by 2030.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.1371/journal.pone.0298332
  title: Efficacy and safety of prazequantel for the treatment of Schistosoma mansoni infection across different transmission settings in Amhara Regional State, northwest Ethiopia
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Schistosoma mansoni and S. haematobium infections have been public health problems in Ethiopia, S. mansoni being more prevalent.
    supporting_text: Schistosoma mansoni and S. haematobium infections have been public health problems in Ethiopia, S. mansoni being more prevalent.
    evidence:
    - reference: DOI:10.1371/journal.pone.0298332
      reference_title: Efficacy and safety of prazequantel for the treatment of Schistosoma mansoni infection across different transmission settings in Amhara Regional State, northwest Ethiopia
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Schistosoma mansoni and S. haematobium infections have been public health problems in Ethiopia, S. mansoni being more prevalent.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.1371/journal.pone.0301464
  title: 'Effects of paediatric schistosomiasis control programmes in sub-Saharan Africa: A systematic review'
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Preventive chemotherapy by mass drug administration is globally recommended as the primary method of reaching the elimination of schistosomiasis, especially in the high risk-paediatric population.
    supporting_text: Preventive chemotherapy by mass drug administration is globally recommended as the primary method of reaching the elimination of schistosomiasis, especially in the high risk-paediatric population.
    evidence:
    - reference: DOI:10.1371/journal.pone.0301464
      reference_title: 'Effects of paediatric schistosomiasis control programmes in sub-Saharan Africa: A systematic review'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Preventive chemotherapy by mass drug administration is globally recommended as the primary method of reaching the elimination of schistosomiasis, especially in the high risk-paediatric population.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.1556/1886.2024.00013
  title: Insights into the epidemiology, pathogenesis, and differential diagnosis of schistosomiasis
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Schistosomiasis is a neglected tropical disease that is prevalent in low- and middle-income countries.
    supporting_text: Schistosomiasis is a neglected tropical disease that is prevalent in low- and middle-income countries.
    evidence:
    - reference: DOI:10.1556/1886.2024.00013
      reference_title: Insights into the epidemiology, pathogenesis, and differential diagnosis of schistosomiasis
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Schistosomiasis is a neglected tropical disease that is prevalent in low- and middle-income countries.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.3389/fimmu.2023.1268998
  title: FioSchisto’s expert perspective on implementing WHO guidelines for schistosomiasis control and transmission elimination in Brazil
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: The World Health Organization (WHO) recognizes schistosomiasis as one of the Neglected Tropical Diseases targeted for global elimination in the 2030 Agenda of the Sustainable Development Goals.
    supporting_text: The World Health Organization (WHO) recognizes schistosomiasis as one of the Neglected Tropical Diseases targeted for global elimination in the 2030 Agenda of the Sustainable Development Goals.
    evidence:
    - reference: DOI:10.3389/fimmu.2023.1268998
      reference_title: FioSchisto’s expert perspective on implementing WHO guidelines for schistosomiasis control and transmission elimination in Brazil
      supports: SUPPORT
      evidence_source: OTHER
      snippet: The World Health Organization (WHO) recognizes schistosomiasis as one of the Neglected Tropical Diseases targeted for global elimination in the 2030 Agenda of the Sustainable Development Goals.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.3389/fitd.2024.1322652
  title: 'Repeated versus single praziquantel dosing regimen in treatment of female genital schistosomiasis: a phase 2 randomised controlled trial showing no difference in efficacy'
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Single-dose praziquantel (PZQ) for treating urogenital schistosomiasis has been reported as inadequate for achieving significant resolution of female genital schistosomiasis (FGS)-associated cervicovaginal lesions.
    supporting_text: Single-dose praziquantel (PZQ) for treating urogenital schistosomiasis has been reported as inadequate for achieving significant resolution of female genital schistosomiasis (FGS)-associated cervicovaginal lesions.
    evidence:
    - reference: DOI:10.3389/fitd.2024.1322652
      reference_title: 'Repeated versus single praziquantel dosing regimen in treatment of female genital schistosomiasis: a phase 2 randomised controlled trial showing no difference in efficacy'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Single-dose praziquantel (PZQ) for treating urogenital schistosomiasis has been reported as inadequate for achieving significant resolution of female genital schistosomiasis (FGS)-associated cervicovaginal lesions.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.3389/fphar.2023.968106
  title: 'Efficacy and safety of praziquantel preventive chemotherapy in Schistosoma mansoni infected school children in Southern Ethiopia: A prospective cohort study'
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: The World Health Organization recommends efficacy and safety surveillance of anti-helminths used in mass drug administration campaigns.
    supporting_text: The World Health Organization recommends efficacy and safety surveillance of anti-helminths used in mass drug administration campaigns.
    evidence:
    - reference: DOI:10.3389/fphar.2023.968106
      reference_title: 'Efficacy and safety of praziquantel preventive chemotherapy in Schistosoma mansoni infected school children in Southern Ethiopia: A prospective cohort study'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: The World Health Organization recommends efficacy and safety surveillance of anti-helminths used in mass drug administration campaigns.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.3390/tropicalmed9090221
  title: Schistosomiasis in the Military—A Narrative Review
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Schistosomiasis is a parasitosis caused by trematodes of the genus Schistosoma.
    supporting_text: Schistosomiasis is a parasitosis caused by trematodes of the genus Schistosoma.
    evidence:
    - reference: DOI:10.3390/tropicalmed9090221
      reference_title: Schistosomiasis in the Military—A Narrative Review
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Schistosomiasis is a parasitosis caused by trematodes of the genus Schistosoma.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
- reference: DOI:10.3390/tropicalmed9100243
  title: A Recent Advance in the Diagnosis, Treatment, and Vaccine Development for Human Schistosomiasis
  found_in:
  - Schistosomiasis-deep-research-falcon.md
  findings:
  - statement: Schistosomiasis, which affects a large number of people worldwide, is among the most overlooked parasitic diseases.
    supporting_text: Schistosomiasis, which affects a large number of people worldwide, is among the most overlooked parasitic diseases.
    evidence:
    - reference: DOI:10.3390/tropicalmed9100243
      reference_title: A Recent Advance in the Diagnosis, Treatment, and Vaccine Development for Human Schistosomiasis
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Schistosomiasis, which affects a large number of people worldwide, is among the most overlooked parasitic diseases.
      explanation: Deep research cited this publication as relevant literature for Schistosomiasis.
datasets:
- accession: geo:GSE313156
  title: Temporal modulation of gene expression in a controlled Schistosoma mansoni human infection model
  description: Background Schistosomiasis is caused by parasitic blood flukes of the genus Schistosoma. Despite ongoing mass drug administration efforts, the disease remains a major public health burden in endemic regions. A better understanding of early host responses to schistosomiasis is critical for developing effective vaccines and therapeutics. Methods We conducted a longitudinal transcriptomic study of peripheral blood samples from 30 Schistosoma-naïve volunteers participating in two controlled human infection trials with male-or female-only S. mansoni cercariae. Blood was collected at six time points over 20 weeks post-infection.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: BULK_RNA_SEQ
  sample_count: 144
  publication: PMID:41476985
  notes: Identified by GEO DataSets index search for Schistosomiasis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: geo:GSE289753
  title: A Novel Combination Therapy with Uridine and Praziquantel effectively Alleviates Schistosomiasis-induced Hepatic Fibrosis through Promoting Adipogenic Differentiation
  description: Schistosomiasis-induced hepatic fibrosis, a consequence of egg-induced granulomatous lesions, remains untreated by current drugs. Therefore, the development of novel antifibrosis drugs is of paramount importance. Our previous study indicated that aberrant uridine concentrations play a pivotal role in schistosomiasis-induced hepatic fibrosis. This study aimed to explore the inhibitory role of uridine in schistosomiasis-induced liver fibrosis and the regulatory mechanism of uridine on hepatic stellate cell (HSC) activation. The results indicated that uridine could inhibit schistosomiasis-induced liver fibrosis in vivo and TGF-β-induced HSC activation in vitro.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: BULK_RNA_SEQ
  sample_count: 9
  notes: Identified by GEO DataSets index search for Schistosomiasis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: geo:GSE298216
  title: Verification of gene expression profiles in the liver tissues of mice after schistosomiasis infection
  description: In order to further improve our method for measuring gene expression after different days of schistosomiasis infection, we adopted whole-genome microarray expression analysis as the sequencing platform to identify those genes with potential for distinguishing different infection times (applicable for the corresponding exposure range of medical decisions in cases of schistosomiasis infection after different days). We infected 15-day, 24-day and 45-day healthy mice with schistosomiasis and determined a consensus characteristic of successful schistosomiasis infection, which could distinguish infection days and control samples.
  organism:
    preferred_term: mouse
    term:
      id: NCBITaxon:10090
      label: Mus musculus
  data_type: MICROARRAY
  sample_count: 7
  notes: Identified by GEO DataSets index search for Schistosomiasis (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: metabolomics_workbench:ST000934
  title: Metabolome profiles in urogenital schistosomiasis and associated pathologies
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Schistosomiasis"). Retrieved 2026-08-02.
- accession: metabolomics_workbench:ST000973
  title: Metabolome profiles in urogenital schistosomiasis and associated pathologies (part II)
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Schistosomiasis"). Retrieved 2026-08-02.
- accession: massive:MSV000096452
  title: Schistosomiasis Metabolites Mining by SPME Dataset
  description: Data was acquired on schistosomiasis infected samples (Mohembo, Ngarange, Sekondomboro and Xakau) and control samples (Sepopa).
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from massive. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Schistosomiasis"). Retrieved 2026-08-02.
📚

References & Deep Research

References

13
DOI:10.1371/journal.pgph.0002249
The WHO atlas for female-genital schistosomiasis: Co-design of a practicable diagnostic guide, digital support and training
1 finding
Up to 56 million young and adult women of African origin suffer from Female Genital Schistosomiasis (FGS).
"Up to 56 million young and adult women of African origin suffer from Female Genital Schistosomiasis (FGS)."
Show evidence (1 reference)
DOI:10.1371/journal.pgph.0002249 SUPPORT Human clinical
"Up to 56 million young and adult women of African origin suffer from Female Genital Schistosomiasis (FGS)."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.1371/journal.pgph.0003221
Community preferred drug delivery approaches for pilot roll-out of a potential novel paediatric schistosomiasis treatment option in two endemic counties of Kenya: A mixed methods study
1 finding
Treating preschool age children (PSAC) for schistosomiasis has remained a challenge due to lack of a pediatric formulation.
"Treating preschool age children (PSAC) for schistosomiasis has remained a challenge due to lack of a pediatric formulation."
Show evidence (1 reference)
DOI:10.1371/journal.pgph.0003221 SUPPORT Human clinical
"Treating preschool age children (PSAC) for schistosomiasis has remained a challenge due to lack of a pediatric formulation."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.1371/journal.pgph.0004035
Contextual factors influencing schistosomiasis treatment and identification of delivery platforms for arpraziquantel in hard-to-reach areas and populations in Homa Bay County, Kenya
1 finding
A new formulation of praziquantel, arpraziquantel (arPZQ), has been developed for preschool-aged children (PSAC) to fill the treatment gap for this age group in schistosomiasis control and elimination programs.
"A new formulation of praziquantel, arpraziquantel (arPZQ), has been developed for preschool-aged children (PSAC) to fill the treatment gap for this age group in schistosomiasis control and elimination programs."
Show evidence (1 reference)
DOI:10.1371/journal.pgph.0004035 SUPPORT Human clinical
"A new formulation of praziquantel, arpraziquantel (arPZQ), has been developed for preschool-aged children (PSAC) to fill the treatment gap for this age group in schistosomiasis control and elimination programs."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.1371/journal.pntd.0012102
Female genital schistosomiasis burden and risk factors in two endemic areas in Malawi nested in the Morbidity Operational Research for Bilharziasis Implementation Decisions (MORBID) cross-sectional study
1 finding
Female genital schistosomiasis (FGS), caused by the parasite Schistosoma haematobium (Sh), is prevalent in Sub-Saharan Africa.
"Female genital schistosomiasis (FGS), caused by the parasite Schistosoma haematobium (Sh), is prevalent in Sub-Saharan Africa."
Show evidence (1 reference)
DOI:10.1371/journal.pntd.0012102 SUPPORT Human clinical
"Female genital schistosomiasis (FGS), caused by the parasite Schistosoma haematobium (Sh), is prevalent in Sub-Saharan Africa."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.1371/journal.pntd.0012282
Schistosomiasis diagnosis: Challenges and opportunities for elimination
1 finding
Overview The roadmap adopted by the World Health Organization (WHO) for eliminating neglected tropical diseases aims to eliminate schistosomiasis, as a public health concern, by 2030.
"Overview The roadmap adopted by the World Health Organization (WHO) for eliminating neglected tropical diseases aims to eliminate schistosomiasis, as a public health concern, by 2030."
Show evidence (1 reference)
DOI:10.1371/journal.pntd.0012282 SUPPORT Human clinical
"Overview The roadmap adopted by the World Health Organization (WHO) for eliminating neglected tropical diseases aims to eliminate schistosomiasis, as a public health concern, by 2030."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.1371/journal.pone.0298332
Efficacy and safety of prazequantel for the treatment of Schistosoma mansoni infection across different transmission settings in Amhara Regional State, northwest Ethiopia
1 finding
Schistosoma mansoni and S. haematobium infections have been public health problems in Ethiopia, S. mansoni being more prevalent.
"Schistosoma mansoni and S. haematobium infections have been public health problems in Ethiopia, S. mansoni being more prevalent."
Show evidence (1 reference)
DOI:10.1371/journal.pone.0298332 SUPPORT Human clinical
"Schistosoma mansoni and S. haematobium infections have been public health problems in Ethiopia, S. mansoni being more prevalent."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.1371/journal.pone.0301464
Effects of paediatric schistosomiasis control programmes in sub-Saharan Africa: A systematic review
1 finding
Preventive chemotherapy by mass drug administration is globally recommended as the primary method of reaching the elimination of schistosomiasis, especially in the high risk-paediatric population.
"Preventive chemotherapy by mass drug administration is globally recommended as the primary method of reaching the elimination of schistosomiasis, especially in the high risk-paediatric population."
Show evidence (1 reference)
DOI:10.1371/journal.pone.0301464 SUPPORT Other
"Preventive chemotherapy by mass drug administration is globally recommended as the primary method of reaching the elimination of schistosomiasis, especially in the high risk-paediatric population."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.1556/1886.2024.00013
Insights into the epidemiology, pathogenesis, and differential diagnosis of schistosomiasis
1 finding
Schistosomiasis is a neglected tropical disease that is prevalent in low- and middle-income countries.
"Schistosomiasis is a neglected tropical disease that is prevalent in low- and middle-income countries."
Show evidence (1 reference)
DOI:10.1556/1886.2024.00013 SUPPORT Human clinical
"Schistosomiasis is a neglected tropical disease that is prevalent in low- and middle-income countries."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.3389/fimmu.2023.1268998
FioSchisto’s expert perspective on implementing WHO guidelines for schistosomiasis control and transmission elimination in Brazil
1 finding
The World Health Organization (WHO) recognizes schistosomiasis as one of the Neglected Tropical Diseases targeted for global elimination in the 2030 Agenda of the Sustainable Development Goals.
"The World Health Organization (WHO) recognizes schistosomiasis as one of the Neglected Tropical Diseases targeted for global elimination in the 2030 Agenda of the Sustainable Development Goals."
Show evidence (1 reference)
DOI:10.3389/fimmu.2023.1268998 SUPPORT Other
"The World Health Organization (WHO) recognizes schistosomiasis as one of the Neglected Tropical Diseases targeted for global elimination in the 2030 Agenda of the Sustainable Development Goals."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.3389/fitd.2024.1322652
Repeated versus single praziquantel dosing regimen in treatment of female genital schistosomiasis: a phase 2 randomised controlled trial showing no difference in efficacy
1 finding
Single-dose praziquantel (PZQ) for treating urogenital schistosomiasis has been reported as inadequate for achieving significant resolution of female genital schistosomiasis (FGS)-associated cervicovaginal lesions.
"Single-dose praziquantel (PZQ) for treating urogenital schistosomiasis has been reported as inadequate for achieving significant resolution of female genital schistosomiasis (FGS)-associated cervicovaginal lesions."
Show evidence (1 reference)
DOI:10.3389/fitd.2024.1322652 SUPPORT Human clinical
"Single-dose praziquantel (PZQ) for treating urogenital schistosomiasis has been reported as inadequate for achieving significant resolution of female genital schistosomiasis (FGS)-associated cervicovaginal lesions."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.3389/fphar.2023.968106
Efficacy and safety of praziquantel preventive chemotherapy in Schistosoma mansoni infected school children in Southern Ethiopia: A prospective cohort study
1 finding
The World Health Organization recommends efficacy and safety surveillance of anti-helminths used in mass drug administration campaigns.
"The World Health Organization recommends efficacy and safety surveillance of anti-helminths used in mass drug administration campaigns."
Show evidence (1 reference)
DOI:10.3389/fphar.2023.968106 SUPPORT Human clinical
"The World Health Organization recommends efficacy and safety surveillance of anti-helminths used in mass drug administration campaigns."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.3390/tropicalmed9090221
Schistosomiasis in the Military—A Narrative Review
1 finding
Schistosomiasis is a parasitosis caused by trematodes of the genus Schistosoma.
"Schistosomiasis is a parasitosis caused by trematodes of the genus Schistosoma."
Show evidence (1 reference)
DOI:10.3390/tropicalmed9090221 SUPPORT Other
"Schistosomiasis is a parasitosis caused by trematodes of the genus Schistosoma."
Deep research cited this publication as relevant literature for Schistosomiasis.
DOI:10.3390/tropicalmed9100243
A Recent Advance in the Diagnosis, Treatment, and Vaccine Development for Human Schistosomiasis
1 finding
Schistosomiasis, which affects a large number of people worldwide, is among the most overlooked parasitic diseases.
"Schistosomiasis, which affects a large number of people worldwide, is among the most overlooked parasitic diseases."
Show evidence (1 reference)
DOI:10.3390/tropicalmed9100243 SUPPORT Human clinical
"Schistosomiasis, which affects a large number of people worldwide, is among the most overlooked parasitic diseases."
Deep research cited this publication as relevant literature for Schistosomiasis.

Deep Research

1

Deep research results are used as seeds for research; they do not undergo the same validation as the main records and may contain errors. How we use deep research.

Falcon ▸
Disease Characteristics Research Template
Edison Scientific Literature 42 citations 2026-04-04T16:35:04.760747

Question: You are an expert researcher providing comprehensive, well-cited information.

Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies

Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.

Disease Characteristics Research Template

Target Disease

  • Disease Name: Schistosomiasis
  • MONDO ID: (if available)
  • Category: Infectious Disease

Research Objectives

Please provide a comprehensive research report on Schistosomiasis covering all of the disease characteristics listed below. This report will be used to populate a disease knowledge base entry. Be thorough and cite primary literature (PMID preferred) for all claims.

For each section, suggested databases/resources are listed. These are the first places you should search for information on each topic.

1. Disease Information

Search first: OMIM, Orphanet, ICD-10/ICD-11, MeSH, PubMed

  • What is the disease? Provide a concise overview.
  • What are the key identifiers? (OMIM, Orphanet, ICD-10/ICD-11, MeSH, Mondo)
  • What are the common synonyms and alternative names?
  • Is the information derived from individual patients (e.g., EHR) or aggregated disease-level resources?

2. Etiology

  • Disease Causal Factors: What are the primary causes? (genetic, environmental, infectious, mechanistic)
  • Risk Factors:

    Search first: PubMed, Cochrane Library, UpToDate, clinical guidelines, ClinVar, ClinGen, GWAS Catalog, PheGenI, CTD, CDC, WHO, epidemiological databases

  • Genetic risk factors (causal variants, susceptibility loci, modifier genes)
  • Environmental risk factors (toxins, lifestyle, occupational exposures, age, sex, family history)
  • Protective Factors:

    Search first: PubMed, Cochrane Library, clinical trial databases, GWAS Catalog, gnomAD, WHO, CDC, nutrition databases

  • Genetic protective factors (protective variants, modifier alleles)
  • Environmental protective factors (diet, lifestyle, exposures that reduce risk)
  • Gene-Environment Interactions: How do genetic and environmental factors interact to influence disease?

    Search first: CTD, PubMed, PheGenI, GxE databases

3. Phenotypes

Search first: HPO (Human Phenotype Ontology), OMIM, Orphanet, PubMed, clinicaltrials.gov, MedDRA, SNOMED CT, DECIPHER, LOINC

For each phenotype, provide: - Phenotype type: symptoms, clinical signs, physical manifestations, behavioral changes, or laboratory abnormalities

For symptoms/signs: HPO, OMIM, Orphanet, PubMed For behavioral changes: HPO, DSM, RDoC (Research Domain Criteria), PubMed For laboratory abnormalities: LOINC, SNOMED CT, LabTests Online, PubMed - Phenotype characteristics: Search first: OMIM, Orphanet, HPO, PubMed - Age of symptom onset (neonatal, childhood, adult-onset, late-onset) - Symptom severity (mild, moderate, severe, variable) - Symptom progression (stable, progressive, episodic, fluctuating) - Frequency among affected individuals (percentage or qualitative) - Quality of life impact: Effects on daily functioning and well-being (per-phenotype when possible) Search first: EQ-5D database, SF-36, WHO QOL databases, PubMed - Suggest HPO (Human Phenotype Ontology) terms for each phenotype

4. Genetic/Molecular Information

  • Causal Genes: Gene mutations or chromosomal abnormalities responsible for disease (gene symbols, OMIM IDs)

    Search first: OMIM, ClinVar, HGMD, Ensembl, NCBI Gene

  • Pathogenic Variants:
  • Affected genes (gene symbols, HGNC IDs) > Search first: OMIM, NCBI Gene, Ensembl, HGNC, UniProt, GeneCards
  • Variant classification (pathogenic, likely pathogenic, VUS per ACMG/AMP guidelines) > Search first: ClinVar, ClinGen, ACMG/AMP guidelines, VarSome
  • Variant type/class (missense, frameshift, nonsense, splice-site, structural)
  • Allele frequency in population databases > Search first: gnomAD, 1000 Genomes, ExAC, TOPMed, dbSNP
  • Somatic vs germline origin > Search first: COSMIC (somatic), ClinVar, ICGC, TCGA
  • Functional consequences (loss of function, gain of function, dominant negative)
  • Modifier Genes: Genes that modify disease severity or expression
  • Epigenetic Information: DNA methylation, histone modifications, chromatin changes affecting disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Chromosomal Abnormalities: Large-scale genetic changes (aneuploidy, translocations, inversions)

    Search first: DECIPHER, ClinVar, ECARUCA, UCSC Genome Browser

5. Environmental Information

  • Environmental Factors: Non-genetic contributing factors (toxins, radiation, pollution, occupational exposure)

    Search first: CTD (Comparative Toxicogenomics Database), TOXNET, PubMed, EPA databases

  • Lifestyle Factors: Behavioral factors (smoking, diet, exercise, alcohol consumption)

    Search first: CDC databases, WHO, PubMed, NHANES

  • Infectious Agents: If applicable, pathogens causing or triggering disease (bacteria, viruses, fungi, parasites)

    Search first: NCBI Taxonomy, ViPR, BV-BRC, MicrobeDB, GIDEON

6. Mechanism / Pathophysiology

  • Molecular Pathways: Specific signaling cascades or biochemical pathways involved (Wnt, MAPK, mTOR, PI3K-AKT, etc.)

    Search first: KEGG, Reactome, WikiPathways, PathBank, BioCyc

  • Cellular Processes: Cell-level mechanisms (apoptosis, autophagy, cell cycle dysregulation, inflammation, etc.)

    Search first: Gene Ontology (GO), Reactome, KEGG, PubMed

  • Protein Dysfunction: How protein structure or function is altered (misfolding, aggregation, loss of function, gain of function)

    Search first: UniProt, PDB (Protein Data Bank), InterPro, Pfam, AlphaFold

  • Metabolic Changes: Alterations in metabolic processes (energy metabolism, lipid metabolism, amino acid metabolism)

    Search first: KEGG, BioCyc, HMDB (Human Metabolome Database), BRENDA

  • Immune System Involvement: Role of immune response (autoimmunity, immunodeficiency, chronic inflammation)

    Search first: ImmPort, Immunome Database, IEDB, Gene Ontology

  • Tissue Damage Mechanisms: How tissues/ are injured (oxidative stress, ischemia, fibrosis, necrosis)

    Search first: PubMed, Gene Ontology, Reactome

  • Biochemical Abnormalities: Specific molecular defects (enzyme deficiencies, receptor dysfunction, ion channel defects)

    Search first: BRENDA, UniProt, KEGG, OMIM, PubMed

  • Epigenetic Changes: DNA methylation, histone modifications affecting gene expression in disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Molecular Profiling (if available):
  • Transcriptomics/gene expression changes > Search first: GEO (Gene Expression Omnibus), ArrayExpress, GTEx, Human Cell Atlas, SRA
  • Proteomics findings > Search first: PRIDE, ProteomeXchange, Human Protein Atlas, STRING, BioGRID
  • Metabolomics signatures > Search first: MetaboLights, Metabolomics Workbench, HMDB, METLIN
  • Lipidomics alterations > Search first: LIPID MAPS, SwissLipids, LipidHome, Metabolomics Workbench
  • Genomic structural features > Search first: UCSC Genome Browser, Ensembl, NCBI, dbVar, DGV
  • Advanced Technologies (if applicable):
  • Single-cell analysis findings (cell-type specific mechanisms, cellular heterogeneity) > Search first: Human Cell Atlas, Single Cell Portal, GEO, CELLxGENE
  • Spatial transcriptomics findings > Search first: GEO, Spatial Research, Vizgen, 10x Genomics data
  • Multi-omics integration results > Search first: TCGA, ICGC, cBioPortal, LinkedOmics, PubMed
  • Functional genomics screens (CRISPR, RNAi) > Search first: DepMap, GenomeRNAi, PubMed, BioGRID ORCS

For each mechanism, describe: - The causal chain from initial trigger to clinical manifestation - Which mechanisms are upstream vs downstream - What cell types and biological processes are involved - Suggest GO terms for biological processes and CL terms for cell types

7. Anatomical Structures Affected

  • Organ Level:
  • Primary organs directly affected
  • Secondary organ involvement (complications, secondary effects)
  • Body systems involved (cardiovascular, nervous, digestive, respiratory, endocrine, etc.)

    Search first: Uberon, FMA (Foundational Model of Anatomy), OMIM, HPO, ICD-11, MeSH, SNOMED CT

  • Tissue and Cell Level:
  • Specific tissue types affected (epithelial, connective, muscle, nervous)
  • Specific cell populations targeted (with Cell Ontology terms)

    Search first: Uberon, Human Protein Atlas, Cell Ontology, Human Cell Atlas, CellMarker, PanglaoDB

  • Subcellular Level:
  • Cellular compartments involved (mitochondria, nucleus, ER, lysosomes) (with GO Cellular Component terms)

    Search first: Gene Ontology (Cellular Component), UniProt, Human Protein Atlas

  • Localization:
  • Specific anatomical sites (with UBERON terms) > Search first: FMA, Uberon, NeuroNames (for brain), SNOMED CT
  • Lateralization (unilateral, bilateral, asymmetric) > Search first: HPO, clinical literature, imaging databases

8. Temporal Development

  • Onset:
  • Typical age of onset (congenital, pediatric, adult, geriatric)
  • Onset pattern (acute, subacute, chronic, insidious)

    Search first: OMIM, Orphanet, HPO, PubMed

  • Progression:
  • Disease stages (early, intermediate, advanced, end-stage) > Search first: Cancer Staging Manual (AJCC), WHO classifications, PubMed
  • Progression rate (rapid, slow, variable)
  • Disease course pattern (episodic, relapsing-remitting, progressive, stable)
  • Disease duration (self-limited, chronic lifelong)

    Search first: Disease registries, longitudinal cohort databases, natural history studies, PubMed, Orphanet, OMIM

  • Patterns:
  • Remission patterns (spontaneous, treatment-induced) > Search first: Clinical trial databases, disease registries, PubMed
  • Critical periods (time windows of vulnerability or opportunity for intervention) > Search first: PubMed, developmental biology databases, clinical guidelines

9. Inheritance and Population

  • Epidemiology:
  • Prevalence (cases per 100,000 at given time)
  • Incidence (new cases per 100,000 per year)

    Search first: Orphanet, CDC, WHO, GBD (Global Burden of Disease), national registries, SEER, disease registries

  • For Genetic Etiology:
  • Inheritance pattern (AD, AR, X-linked, mitochondrial, multifactorial, polygenic) > Search first: OMIM, Orphanet, ClinVar, GTR (Genetic Testing Registry)
  • Penetrance (complete, incomplete, age-dependent) > Search first: ClinVar, OMIM, PubMed, ClinGen
  • Expressivity (variable, consistent) > Search first: OMIM, ClinVar, PubMed
  • Genetic anticipation (increasing severity in successive generations) > Search first: OMIM, PubMed (especially for repeat expansion disorders)
  • Germline mosaicism > Search first: ClinVar, OMIM, genetic counseling literature, PubMed
  • Founder effects (population-specific mutations) > Search first: gnomAD, population genetics databases, PubMed
  • Consanguinity role > Search first: OMIM, population studies, genetic counseling resources
  • Carrier frequency > Search first: gnomAD, carrier screening databases, GeneReviews, GTR
  • Population Demographics:
  • Affected populations (ethnic or demographic groups with higher prevalence) > Search first: gnomAD, 1000 Genomes, PAGE Study, PubMed, population registries
  • Geographic distribution (endemic areas, regional variation) > Search first: WHO, CDC, GBD, Orphanet, geographic epidemiology databases
  • Geographic distribution of specific variants
  • Sex ratio (male:female) > Search first: Disease registries, OMIM, PubMed, epidemiological databases
  • Age distribution of affected individuals > Search first: CDC, disease registries, SEER, Orphanet

10. Diagnostics

  • Clinical Tests:
  • Laboratory tests (blood, urine, tissue chemistry, specific enzyme assays) > Search first: LOINC, LabTests Online, PubMed
  • Biomarkers (proteins, metabolites, genetic markers, circulating biomarkers) > Search first: FDA Biomarker List, BEST (Biomarkers, EndpointS, and other Tools), PubMed
  • Imaging studies (X-ray, CT, MRI, PET, ultrasound) > Search first: RadLex, DICOM, Radiopaedia, imaging databases
  • Functional tests (pulmonary function, cardiac stress tests) > Search first: LOINC, clinical guidelines, PubMed
  • Electrophysiology (EEG, EMG, ECG, nerve conduction studies) > Search first: LOINC, clinical neurophysiology databases, PubMed
  • Biopsy findings (histopathology, immunohistochemistry) > Search first: SNOMED CT, College of American Pathologists resources, PubMed
  • Pathology findings (microscopic examination) > Search first: SNOMED CT, Digital Pathology databases, PubMed
  • Genetic Testing:

    Search first: GTR (Genetic Testing Registry), GeneReviews, ClinGen

  • Overview of recommended genetic testing approach
  • Whole genome sequencing (WGS) utility > Search first: GTR, ClinVar, GEL (Genomics England), gnomAD
  • Whole exome sequencing (WES) utility > Search first: GTR, ClinVar, OMIM, GeneMatcher
  • Gene panels (which panels, which genes) > Search first: GTR, ClinVar, laboratory-specific databases
  • Single gene testing > Search first: GTR, ClinVar, OMIM, GeneReviews
  • Chromosomal microarray (CMA) > Search first: DECIPHER, ClinVar, dbVar, ECARUCA
  • Karyotyping > Search first: Chromosome Abnormality Database, ClinVar, cytogenetics resources
  • FISH > Search first: ClinVar, cytogenetics databases, PubMed
  • Mitochondrial DNA testing > Search first: MITOMAP, MSeqDR, ClinVar, GTR
  • Repeat expansion testing > Search first: GTR, ClinVar, repeat expansion databases, PubMed
  • Omics-Based Diagnostics (if applicable):
  • RNA sequencing / transcriptomics > Search first: GEO, ArrayExpress, GTEx, RNA-seq databases
  • Proteomics > Search first: PRIDE, ProteomeXchange, FDA Biomarker database
  • Metabolomics > Search first: MetaboLights, Metabolomics Workbench, HMDB
  • Epigenomics > Search first: GEO, ENCODE, Roadmap Epigenomics, MethBase
  • Liquid biopsy > Search first: COSMIC, ClinVar, liquid biopsy databases, PubMed
  • Clinical Criteria:
  • Standardized diagnostic criteria (DSM, ICD, society guidelines) > Search first: DSM-5, ICD-11, clinical society guidelines, UpToDate
  • Differential diagnosis (other conditions to rule out, with distinguishing features) > Search first: DynaMed, UpToDate, clinical decision support systems
  • Screening:
  • Screening methods for asymptomatic individuals (newborn screening, carrier screening, cascade screening) > Search first: ACMG recommendations, CDC newborn screening, GTR

11. Outcome/Prognosis

  • Survival and Mortality:
  • Survival rate (5-year, 10-year, overall) > Search first: SEER, cancer registries, disease-specific registries, PubMed
  • Life expectancy (with and without treatment if applicable) > Search first: Orphanet, disease registries, actuarial databases, PubMed
  • Mortality rate > Search first: CDC, WHO, GBD, national mortality databases
  • Disease-specific mortality (deaths directly attributable to disease) > Search first: Disease registries, CDC Wonder, GBD, PubMed
  • Morbidity and Function:
  • Morbidity (disease-related disability and health impacts) > Search first: GBD, WHO, disability databases, PubMed
  • Disability outcomes (long-term functional impairments) > Search first: ICF (International Classification of Functioning), disability registries
  • Quality of life measures (EQ-5D, SF-36, PROMIS, disease-specific tools) > Search first: EQ-5D database, SF-36, PROMIS, PubMed
  • Disease Course:
  • Complications (secondary problems: infections, organ failure, etc.) > Search first: ICD codes, disease registries, clinical databases, PubMed
  • Recovery potential (likelihood and extent of recovery, with vs without treatment) > Search first: Natural history studies, rehabilitation databases, PubMed
  • Prediction:
  • Prognostic factors (age, disease severity, biomarkers, treatment response) > Search first: Prognostic models databases, clinical calculators, PubMed
  • Prognostic biomarkers (molecular markers predicting disease course) > Search first: FDA Biomarker database, PubMed, cancer prognostic databases

12. Treatment

  • Pharmacotherapy:
  • Pharmacological treatments (drug names, drug classes, mechanisms of action) > Search first: DrugBank, RxNorm, ATC classification, DailyMed, FDA databases
  • Pharmacogenomics (how genetic variants affect drug metabolism, efficacy, toxicity) > Search first: PharmGKB, CPIC (Clinical Pharmacogenetics), FDA Table of PGx Biomarkers
  • Advanced Therapeutics:
  • Gene therapy (viral vectors, CRISPR, gene replacement, gene editing) > Search first: ClinicalTrials.gov, FDA gene therapy database, ASGCT resources
  • Cell therapy (stem cell transplant, CAR-T, cellular therapeutics) > Search first: ClinicalTrials.gov, FDA cell therapy database, FACT standards
  • RNA-based therapies (ASOs, siRNA, mRNA therapies) > Search first: ClinicalTrials.gov, FDA approvals, PubMed
  • Targeted therapies (treatments directed at specific molecular targets) > Search first: My Cancer Genome, OncoKB, ClinicalTrials.gov, FDA approvals
  • Immunotherapies (checkpoint inhibitors, monoclonal antibodies) > Search first: Cancer Immunotherapy Database, FDA approvals, ClinicalTrials.gov
  • Surgical and Interventional:
  • Surgical interventions (types of surgery, timing, outcomes) > Search first: CPT codes, surgical registries, clinical guidelines, PubMed
  • Supportive and Rehabilitative:
  • Supportive care (symptom management, pain control, nutrition) > Search first: Clinical guidelines, Cochrane Library, PubMed
  • Rehabilitation (physical therapy, occupational therapy, speech therapy) > Search first: Rehabilitation medicine databases, clinical guidelines, PubMed
  • Experimental:
  • Experimental treatments in clinical trials (with NCT identifiers if available) > Search first: ClinicalTrials.gov, EU Clinical Trials Register, WHO ICTRP
  • Treatment Outcomes:
  • Treatment response rates > Search first: Clinical trial databases, FDA reviews, systematic reviews, PubMed
  • Side effects and adverse events > Search first: FDA Adverse Event Reporting System (FAERS), MedWatch, PubMed
  • Treatment Strategy:
  • Treatment algorithms (clinical pathways, decision trees) > Search first: Clinical practice guidelines, NCCN Guidelines, UpToDate
  • Combination therapies > Search first: ClinicalTrials.gov, treatment guidelines, PubMed
  • Personalized medicine approaches (genotype-guided treatment) > Search first: My Cancer Genome, CIViC, PharmGKB, precision medicine databases

For each treatment, suggest MAXO (Medical Action Ontology) terms where applicable.

13. Prevention

  • Prevention Levels:
  • Primary prevention (preventing disease occurrence: vaccination, risk factor modification) > Search first: CDC, WHO, USPSTF recommendations, Cochrane Library
  • Secondary prevention (early detection and treatment: screening programs, early intervention) > Search first: USPSTF, CDC screening guidelines, WHO
  • Tertiary prevention (preventing complications in those with disease) > Search first: Clinical guidelines, disease management protocols, PubMed
  • Immunization: Vaccine strategies (if applicable)

    Search first: CDC vaccine schedules, WHO immunization, FDA vaccine database

  • Screening and Early Detection:
  • Screening programs (population-based: newborn screening, cancer screening) > Search first: CDC screening programs, USPSTF, cancer screening databases
  • Genetic screening (carrier screening, preimplantation genetic diagnosis, prenatal testing) > Search first: ACMG recommendations, ACOG guidelines, GTR
  • Risk stratification (identifying high-risk individuals for targeted prevention) > Search first: Risk prediction models, clinical calculators, PubMed
  • Behavioral Interventions: Lifestyle modifications to reduce risk

    Search first: CDC, WHO, behavioral intervention databases, Cochrane Library

  • Counseling: Genetic counseling (risk assessment, family planning guidance)

    Search first: NSGC resources, ACMG guidelines, GeneReviews

  • Public Health:
  • Public health interventions (sanitation, vector control, health education) > Search first: CDC, WHO, public health databases, PubMed
  • Environmental interventions (reducing environmental risk factors) > Search first: EPA databases, WHO environmental health, PubMed
  • Prophylaxis: Preventive medications or procedures

    Search first: Clinical guidelines, FDA approvals, PubMed

14. Other Species / Natural Disease

  • Taxonomy: Species affected (with NCBI Taxon identifiers)

    Search first: NCBI Taxonomy

  • Breed: Specific breeds affected (with VBO identifiers if applicable)

    Search first: VBO (Vertebrate Breed Ontology)

  • Gene: Orthologous genes in other species (with NCBI Gene IDs)

    Search first: NCBI Gene

  • Natural Disease:
  • Naturally occurring disease in other species (companion animals, wildlife) > Search first: OMIA (Online Mendelian Inheritance in Animals), VetCompass, PubMed
  • Veterinary relevance and importance in animal health > Search first: OMIA, veterinary databases, PubMed
  • Comparative Biology:
  • Comparative pathology (similarities and differences across species) > Search first: OMIA, comparative pathology databases, PubMed
  • Evolutionary conservation of disease mechanisms > Search first: HomoloGene, OrthoMCL, Alliance of Genome Resources
  • Transmission (if applicable):
  • Zoonotic potential > Search first: CDC zoonotic diseases, WHO zoonoses, GIDEON
  • Cross-species susceptibility > Search first: NCBI Taxonomy, veterinary databases, PubMed

15. Model Organisms

  • Model Types:
  • Model organism type (mammalian, invertebrate, cellular, in vitro) > Search first: Alliance of Genome Resources, model organism databases
  • Specific model systems (mouse, rat, zebrafish, Drosophila, C. elegans, yeast, cell lines, organoids, iPSCs) > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, SGD, ATCC, Cellosaurus
  • Induced models (drug treatment, surgical intervention, environmental manipulation) > Search first: MGI, model organism databases, PubMed
  • Genetic Models:
  • Types available (knockout, knock-in, transgenic, conditional, humanized) > Search first: MGI, IMPC, KOMP, EuMMCR, IMSR
  • Model Characteristics:
  • Phenotype recapitulation (how well model reproduces human disease features) > Search first: Model organism databases, comparative studies, PubMed
  • Model limitations (aspects of human disease not captured) > Search first: Model organism databases, PubMed, review articles
  • Applications:
  • Research applications (what aspects of disease can be studied) > Search first: Model organism databases, PubMed
  • Resources:
  • Model databases > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, IMSR, EMMA, MMRRC

Citation Requirements

  • Cite primary literature (PMID preferred) for all mechanistic and clinical claims
  • Prioritize recent reviews and landmark papers
  • Include direct quotes from abstracts where possible to support key statements
  • Distinguish evidence source types: human clinical, model organism, in vitro, computational

Output Format

Structure your response as a comprehensive narrative organized by the sections above. For each section, provide: - Factual content with specific details (numbers, percentages, gene names, variant nomenclature) - Ontology term suggestions (HPO, GO, CL, UBERON, CHEBI, MAXO, MONDO) where applicable - Evidence citations with PMIDs - Direct quotes from abstracts to support key claims - Clear indication when information is not available or not applicable for this disease

This report will be used to populate a disease knowledge base entry with: - Pathophysiology descriptions with causal chains - Gene/protein annotations (HGNC, GO terms) - Phenotype associations (HP terms) with frequencies - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Treatment annotations (MAXO terms) - Evidence items with PMIDs and exact abstract quotes - Epidemiology, prognosis, diagnostic, and prevention information - Animal model descriptions with phenotype recapitulation details

Schistosomiasis — Disease Characteristics Research Report (2023–2024 prioritized)

Executive summary

Schistosomiasis is a neglected tropical disease (NTD) caused by trematodes of the genus Schistosoma. Human infection occurs when cercariae released from freshwater snails penetrate the skin during water contact, followed by maturation of worms in the vasculature and egg deposition in tissues; much of the morbidity is driven by egg-induced inflammation and granulomatous pathology. Recent 2024 reviews and meta-analyses emphasize (i) the persistent global burden (≈250M people needing preventive therapy), (ii) the diagnostic transition needed for elimination (antigen and molecular tests outperform egg microscopy in low-intensity settings), and (iii) expansion of preventive chemotherapy (praziquantel) strategies, including development of a pediatric formulation (arpraziquantel) and programs to address female genital schistosomiasis (FGS). (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3, chatterji2024arecentadvance pages 2-3, vaillant2024diagnostictestsfor pages 4-4, alemu2024efficacyandsafety pages 1-2, masaku2024communitypreferreddrug pages 1-2)

Domain Key finding (with quantitative values) Population/Setting Year Source (first author) URL/DOI
Epidemiology/Transmission Schistosomiasis is transmitted when eggs shed in urine/feces hatch to miracidia that infect freshwater snails; released cercariae penetrate human skin. Review states the disease affects “more than 250 million people” and causes “approximately 70 million DALYs.” (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3) Global overview; Africa, South America, Asia 2024 Ponzo https://doi.org/10.1556/1886.2024.00013
Epidemiology/Transmission Review reports that “globally in 2021, schistosomiasis affected around 251.4 million individuals who are in requirement of preventive therapy,” with 75.3 million treated; COVID-19 disruptions caused “a 27% decrease in treatment coverage.” (chatterji2024arecentadvance pages 2-3) Global WHO-era control context 2024 Chatterji https://doi.org/10.3390/tropicalmed9100243
Diagnostics Systematic review/meta-analysis: for S. mansoni, CCA1 pooled sensitivity 95% (95% CrI 88–99) and specificity 74% (63–83); CAA pooled sensitivity 90% (86–93) and specificity 95% (91–98). (vaillant2024diagnostictestsfor pages 4-4) Multi-study latent-class/meta-analysis across endemic settings 2024 Vaillant https://doi.org/10.1016/S2666-5247(23)00377-4
Treatment/Control In 110 school-aged children completing follow-up, praziquantel cure rate (CR) by Kato-Katz was 88.2% (95% CI 82.7–93.6) and egg reduction rate (ERR) 93.5% (85.4–98.5); POC-CCA-based CR was 70.9% or 75.5% depending on trace interpretation. At least one adverse event occurred in 23.6%; abdominal pain 10.0%, nausea 7.3%, headache 5.5%, anorexia 2.7%; all mild. (alemu2024efficacyandsafety pages 1-2) School-aged children with S. mansoni, Amhara Region, Ethiopia 2024 Alemu https://doi.org/10.1371/journal.pone.0298332
Treatment/Control Prospective cohort of 512 infected schoolchildren: overall praziquantel cure rates were 89.1% at week 4 and 87.5% at week 8; ERRs were 93.5% and 91.3%, respectively. At least one MDA-associated adverse event occurred in 17.0% (95% CI 13.8–20.5%); abdominal pain, headache, and vomiting were most common. (gebreyesus2023efficacyandsafety pages 1-2) S. mansoni-infected schoolchildren, Southern Ethiopia 2023 Gebreyesus https://doi.org/10.3389/fphar.2023.968106
Treatment/Control Mixed-methods implementation study found community-based MDA (cMDA) was preferred by 598/690 participants (86.7%), followed by health facility/fixed points 398/690 (57.7%); respondents were mostly women 594/690 (86.1%). Preference for cMDA reflected trust in community health volunteers and convenience of home delivery. (masaku2024communitypreferreddrug pages 1-2) Parents/guardians of preschool-aged children in 8 villages, two endemic counties, Kenya 2024 Masaku https://doi.org/10.1371/journal.pgph.0003221
Treatment/Control Qualitative study in hard-to-reach island/fishing communities found main risk factors were lake water exposure and open defecation; barriers included health-system, population-level, and geographic inaccessibility. Door-to-door distribution by community health promoters was identified as the most feasible arpraziquantel delivery platform. (isaiah2024contextualfactorsinfluencing pages 1-2) Fishermen and island populations, Homa Bay County, Kenya 2024 Isaiah https://doi.org/10.1371/journal.pgph.0004035
FGS Phase 2 randomized trial: 116 women (58 repeated-dose, 58 single-dose); 95 included in per-protocol analysis. There was a minor, non-significant reduction in cervical lesions in both arms at week 15; CAA positivity and mean CAA fell significantly in both groups, more so with repeated dosing. Mild-to-moderate adverse events occurred in equal proportions. ClinicalTrials.gov identifier NCT04115072. (arenholt2024repeatedversussingle pages 1-2) Women aged 15–34 with FGS-associated cervical lesions, northern Madagascar 2024 Arenholt https://doi.org/10.3389/fitd.2024.1322652
FGS Cross-sectional Malawi study: visual-FGS prevalence 26.9% (260/967), molecular-FGS prevalence 8.2% (78/942), and egg-patent urinary infection 6.5% (38/584). Molecular-FGS associated with visual-FGS (AOR 2.9, 95% CI 1.7–5.0) and egg-patent infection (AOR 7.5, 95% CI 3.27–17.2). (lamberti2024femalegenitalschistosomiasis pages 1-2) Sexually active women aged 15–65 in two S. haematobium-endemic districts, Southern Malawi 2024 Lamberti https://doi.org/10.1371/journal.pntd.0012102

Table: This table compiles high-yield 2023–2024 evidence across epidemiology, diagnostics, treatment/control, and female genital schistosomiasis. It is useful as a quick-reference summary of quantitative findings and implementation-relevant results with traceable citations.

1. Disease information

1.1 What is schistosomiasis?

Schistosomiasis is a parasitic disease caused by blood-dwelling flukes of the genus Schistosoma (trematodes). A 2024 review describes it as “a neglected tropical disease” prevalent in low- and middle-income countries and caused by trematodes of the genus Schistosoma. (ponzo2024insightsintothe pages 1-2)

Transmission cycle (current understanding): Eggs shed in urine or feces hatch into miracidia that infect freshwater snails (intermediate hosts). Infected snails release cercariae, which penetrate human skin during freshwater exposure; schistosomula migrate and mature, and adults produce eggs that drive pathology and sustain transmission. (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3, chatterji2024arecentadvance pages 2-3)

Clinical forms: disease is commonly described as intestinal/hepatic versus urogenital schistosomiasis, with acute manifestations (e.g., cercarial dermatitis; Katayama syndrome) and chronic, egg-driven granulomatous disease leading to fibrosis and organ damage. (ponzo2024insightsintothe pages 2-3, chatterji2024arecentadvance pages 5-8, chatterji2024arecentadvance pages 3-5)

1.2 Key identifiers (requested)

Curated ontology/terminology identifiers (MONDO ID, MeSH descriptor ID, ICD-10/ICD-11 codes, Orphanet ID, OMIM) were not retrievable from the current tool evidence in this run; therefore they are not reported here to avoid uncited assertions.

1.3 Synonyms / alternative names

Commonly used synonym: bilharzia / bilharziasis (used in contemporary literature describing human schistosomiasis). (hameister2023prevalenceofschistosoma pages 10-14)

1.4 Evidence provenance (individual vs aggregated)

This report is derived from aggregated disease-level resources (reviews and systematic reviews/meta-analyses), programmatic studies, and clinical/field studies in endemic settings. (chatterji2024arecentadvance pages 2-3, vaillant2024diagnostictestsfor pages 4-4, alemu2024efficacyandsafety pages 1-2, masaku2024communitypreferreddrug pages 1-2)

2. Etiology

2.1 Disease causal factors

Causal agent: infection with Schistosoma spp. trematodes; major human species include S. haematobium, S. mansoni, and S. japonicum (with additional human-infecting species in some regions). (ponzo2024insightsintothe pages 1-2, alemu2024efficacyandsafety pages 1-2)

Mechanistic cause of pathology: egg trapping in tissues, causing inflammatory/granulomatous responses and subsequent fibrosis (central for chronic hepatosplenic and urogenital complications). (chatterji2024arecentadvance pages 5-8)

2.2 Risk factors (human, environmental, behavioral)

Freshwater exposure in endemic settings (e.g., bathing, swimming, washing, fishing) and poor sanitation drive transmission by enabling eggs to reach freshwater and infect snail hosts. (ponzo2024insightsintothe pages 1-2, chatterji2024arecentadvance pages 2-3)

Hard-to-reach, lake-associated communities: a 2024 qualitative study in Homa Bay County (Lake Victoria islands/fishing communities) reports “Lake water and open defecation were the main predisposing factors to infection,” with additional barriers of “inaccessibility of quality healthcare services” due to health system, population-level, and geographic factors. (isaiah2024contextualfactorsinfluencing pages 1-2)

2.3 Protective factors

No specific genetic protective variants or quantified protective environmental factors were identified in the retrieved evidence during this run; key protective strategies described in 2023–2024 sources focus on integrated public health interventions (preventive chemotherapy plus WASH, snail control, and education). (menezes2023fioschisto’sexpertperspective pages 1-2)

2.4 Gene–environment interactions

Human host genetic susceptibility/protection and explicit gene–environment interactions were not captured in the retrieved evidence.

3. Phenotypes

Schistosomiasis phenotypes depend on infecting species, worm burden, tissue egg deposition sites, and duration of infection.

3.1 Acute schistosomiasis

A 2024 review describes acute manifestations including cercarial dermatitis and Katayama syndrome with systemic and gastrointestinal/urogenital symptoms (e.g., fever, abdominal pain/diarrhea, myalgia, haematuria). (ponzo2024insightsintothe pages 2-3)

Suggested HPO terms (non-exhaustive): - Fever (HP:0001945) - Abdominal pain (HP:0002027) - Diarrhea (HP:0002014) - Myalgia (HP:0003326) - Hematuria (HP:0000790)

3.2 Chronic intestinal/hepatosplenic schistosomiasis

A 2024 review notes chronic egg-driven complications including hepatic fibrosis and portal hypertension with organomegaly and intestinal manifestations (abdominal pain, diarrhea, blood in stool). (ponzo2024insightsintothe pages 2-3, strachinaru2024schistosomiasisinthe pages 7-8)

Suggested HPO terms (non-exhaustive): - Hepatic fibrosis (HP:0001395) - Portal hypertension (HP:0001404) - Hepatomegaly (HP:0002240) - Splenomegaly (HP:0001744) - Gastrointestinal hemorrhage / blood in stool (e.g., HP:0002242 for melena; context-specific)

3.3 Chronic urogenital schistosomiasis

Urogenital disease includes haematuria, bladder fibrosis, kidney damage, and increased bladder cancer risk; a 2024 review also notes WHO/IARC carcinogenic classification context for S. haematobium. (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3)

Suggested HPO terms (non-exhaustive): - Hematuria (HP:0000790) - Dysuria (HP:0100511) - Hydronephrosis / kidney damage (HP:0000126 for hydronephrosis; depending on manifestation)

3.4 Female genital schistosomiasis (FGS)

FGS is a chronic manifestation of S. haematobium egg deposition in the genital tract and may mimic STIs and cervical cancer.

  • A 2024 WHO-atlas co-design paper states: “Up to 56 million young and adult women of African origin suffer from Female Genital Schistosomiasis (FGS)” and “There is currently no gold standard for FGS diagnosis.” (martinez2024thewhoatlas pages 1-2)
  • In Southern Malawi, visual-FGS prevalence was 26.9% (260/967) and molecular-FGS 8.2% (78/942); egg-patent urinary infection was 6.5% (38/584), illustrating that genital disease burden can be substantial even when urinary egg-patency is low. (lamberti2024femalegenitalschistosomiasis pages 1-2)

Suggested HPO terms (non-exhaustive; symptom overlap with STI syndromes is common): - Pelvic pain (HP:0002027 used for abdominal pain; pelvic pain specific term may be used if available in HPO) - Postcoital bleeding (term availability may vary) - Vaginal discharge (HP:0031648)

4. Genetic / molecular information

4.1 Causal genes

Schistosomiasis is not a monogenic human disorder; it is an infectious disease. No human causal genes (OMIM-style) are applicable.

4.2 Parasite molecular targets relevant to treatment (mechanistic anchor)

A 2024 review notes that praziquantel’s long-uncertain target has recently been clarified, highlighting a parasite TRPM ion channel (TRPM_PZQ) as a therapeutic target. (isaiah2024contextualfactorsinfluencing pages 1-2)

4.3 Epigenetic information / chromosomal abnormalities

No human epigenetic or chromosomal abnormality evidence was retrieved; parasite omics and non-coding RNAs were outside the scope of the extracted evidence in this run.

5. Environmental information

Key environmental determinants are those enabling snail habitats and human freshwater contact.

  • Freshwater bodies supporting intermediate host snails are essential for transmission; cercariae released from snails infect humans via skin penetration. (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3)
  • In lake-shore/island settings, open defecation and routine lake water contact were highlighted as predisposing factors. (isaiah2024contextualfactorsinfluencing pages 1-2)

6. Mechanism / pathophysiology

6.1 Causal chain (upstream → downstream)

  1. Exposure: cercariae released by infected freshwater snails in endemic waters. (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3)
  2. Entry: cercariae penetrate human skin during water contact. (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3)
  3. Maturation: schistosomula migrate and mature to adult worms in the vasculature. (ponzo2024insightsintothe pages 2-3, chatterji2024arecentadvance pages 5-8)
  4. Egg deposition: adults lay eggs; some are excreted to continue lifecycle, others become trapped in tissues. (chatterji2024arecentadvance pages 5-8, strachinaru2024schistosomiasisinthe pages 7-8)
  5. Immunopathology: trapped eggs provoke inflammation and granulomas; chronicity drives fibrosis (e.g., periportal fibrosis, portal hypertension; bladder/genital tract fibrosis). (ponzo2024insightsintothe pages 2-3, strachinaru2024schistosomiasisinthe pages 7-8)

6.2 Immune involvement (high-level)

A 2024 modelling-focused review summarizes stage-dependent T-helper polarization (Th1/Th17-like responses early vs Th2-dominant responses to ova in chronic infection). (chatterji2024arecentadvance pages 2-3)

Suggested GO biological process terms (examples): - Inflammatory response (GO:0006954) - Granuloma formation (not always a GO term; can be represented via immune/inflammatory processes) - Collagen fibril organization (GO:0030199) - Extracellular matrix organization (GO:0030198)

Suggested Cell Ontology (CL) cell types (examples): - Macrophage (CL:0000235) - CD4-positive, alpha-beta T cell (CL:0000624) - Eosinophil (CL:0000771)

6.3 Tissue damage mechanisms

Chronic disease is described as egg-induced “inflammatory and granulomatous responses” leading to organ fibrosis and complications (e.g., portal hypertension; urogenital fibrosis). (ponzo2024insightsintothe pages 2-3)

7. Anatomical structures affected

7.1 Organ level (major)

  • Intestinal/hepatic system: liver, portal vasculature; hepatosplenic complications with fibrosis/portal hypertension. (ponzo2024insightsintothe pages 2-3, strachinaru2024schistosomiasisinthe pages 7-8)
  • Urogenital system: bladder, urinary tract; kidney damage; increased bladder cancer risk. (ponzo2024insightsintothe pages 1-2)
  • Female genital tract (FGS): cervix/vaginal tissues with characteristic lesions; clinical overlap with cervical cancer/STIs. (arenholt2024repeatedversussingle pages 1-2, martinez2024thewhoatlas pages 1-2)

Suggested UBERON terms (examples): - Liver (UBERON:0002107) - Spleen (UBERON:0002106) - Urinary bladder (UBERON:0001255) - Uterine cervix (UBERON:0000002)

8. Temporal development

  • Onset pattern: exposure-related; acute symptoms can occur after infection (e.g., Katayama syndrome), while chronic disease develops over years with repeated exposure and egg-driven fibrosis. (ponzo2024insightsintothe pages 2-3, chatterji2024arecentadvance pages 3-5)
  • FGS lesion persistence: a 2024 randomized trial suggests established FGS-associated cervical lesions may be refractory to praziquantel even with repeated dosing, supporting the importance of early-life prevention. (arenholt2024repeatedversussingle pages 1-2)

9. Inheritance and population

9.1 Epidemiology and burden (recently cited)

  • A 2024 review states schistosomiasis affects “more than 250 million people” and “approximately 70 million DALYs.” (ponzo2024insightsintothe pages 1-2)
  • A 2024 review reports that “globally in 2021, schistosomiasis affected around 251.4 million individuals who are in requirement of preventive therapy,” with 75.3 million treated and a “27% decrease in treatment coverage” during COVID-19 disruptions. (chatterji2024arecentadvance pages 2-3)

Geographic distribution: burden concentrated in Africa, South America, and Asia in contemporary reviews. (ponzo2024insightsintothe pages 1-2)

9.2 Genetic inheritance (not applicable)

Schistosomiasis is an infectious disease and does not follow Mendelian inheritance.

10. Diagnostics (2023–2024 emphasis)

10.1 Standard parasitology (gold standard but sensitivity-limited)

Microscopy-based egg detection remains widely used (Kato–Katz for stool; urine filtration for urogenital schistosomiasis) but has low sensitivity in low-intensity infections, which becomes limiting for elimination programs. (ally2024schistosomiasisdiagnosischallenges pages 4-6, ally2024schistosomiasisdiagnosischallenges pages 3-4)

10.2 Antigen detection (CCA/CAA) — major recent development

A 2024 systematic review/meta-analysis provides quantitative performance estimates: - CCA1 (POC-CCA) for S. mansoni: pooled sensitivity 95% (95% CrI 88–99) and specificity 74% (63–83) in latent-class analysis. (vaillant2024diagnostictestsfor pages 4-4) - CAA: sensitivity 90% (86–93) and specificity 95% (91–98) versus Kato–Katz. (vaillant2024diagnostictestsfor pages 4-4)

Programmatic interpretation caution: In a 2024 Ethiopia cohort, praziquantel cure rate differed markedly by test: 88.2% by Kato–Katz vs 70.9–75.5% by POC-CCA depending on interpretation of “trace” results, underscoring the operational importance of test choice and result interpretation. (alemu2024efficacyandsafety pages 1-2)

10.3 Molecular tests (PCR / cfDNA) and REASSURED direction

A 2024 review summarizes expanding use of NAATs (PCR, qPCR, LAMP/RPA) for low-burden settings, but notes constraints including equipment and workflow complexity. (ally2024schistosomiasisdiagnosischallenges pages 4-6, ally2024schistosomiasisdiagnosischallenges pages 6-7)

10.4 FGS diagnosis (no gold standard)

A 2024 WHO-atlas paper emphasizes diagnostic uncertainty and misclassification risk: “There is currently no gold standard for FGS diagnosis,” and misdiagnosis may lead to “wrong treatment” and reproductive health harms. (martinez2024thewhoatlas pages 1-2)

11. Outcome / prognosis

Quantitative survival/life expectancy estimates were not retrieved in this run. However, reviewed sources emphasize that chronic infection can lead to irreversible organ damage (hepatic fibrosis/portal hypertension; urinary tract damage; cancer risk) and substantial disability burden. (ponzo2024insightsintothe pages 1-2, ponzo2024insightsintothe pages 2-3)

12. Treatment

12.1 Pharmacotherapy: praziquantel (PZQ)

Praziquantel remains the cornerstone of preventive chemotherapy and case management.

Recent efficacy and safety data (human cohorts): - Ethiopia (2023 prospective cohort, S. mansoni, n=512): cure rates 89.1% (week 4) and 87.5% (week 8); ERR 93.5% and 91.3%; adverse events in 17.0% (95% CI 13.8–20.5%), mostly mild-to-moderate, with abdominal pain/headache/vomiting common. (gebreyesus2023efficacyandsafety pages 1-2) - Ethiopia (2024 cohort, n=110 completing follow-up): cure rate 88.2% and ERR 93.5% by Kato–Katz; adverse events in 23.6% and all mild (abdominal pain 10.0%, nausea 7.3%, headache 5.5%, anorexia 2.7%). (alemu2024efficacyandsafety pages 1-2)

MAXO (suggested): - Anthelmintic therapy (MAXO term concept) - Mass drug administration / preventive chemotherapy (MAXO term concept)

CHEBI (suggested): - Praziquantel (CHEBI identifier not retrieved in this run; not asserted)

12.2 Pediatric formulation: arpraziquantel (arPZQ) and implementation science

Rationale: a 2024 Kenya study states that treating preschool-aged children has been challenging “due to lack of a pediatric formulation,” and describes a consortium-developed novel pediatric treatment option. (masaku2024communitypreferreddrug pages 1-2)

Preferred delivery platforms (Kenya, 2024 mixed methods): - Community-based MDA (cMDA) preferred by 86.7% (598/690) - Health facility/fixed points preferred by 57.7% (398/690) Trust in community health volunteers (CHVs) and convenience of home delivery were key drivers; understaffing/overcrowding concerns were noted for facility delivery. (masaku2024communitypreferreddrug pages 1-2)

Hard-to-reach settings: In Lake Victoria island/fishing communities, door-to-door distribution by community health promoters was proposed as “the most promising platform” to deliver arPZQ, given barriers to health access and risk factors (lake water exposure, open defecation). (isaiah2024contextualfactorsinfluencing pages 1-2)

12.3 FGS treatment: repeated vs single-dose praziquantel (recent RCT)

A 2024 phase 2 randomized trial in northern Madagascar (ClinicalTrials.gov NCT04115072) compared repeated-dose vs single-dose praziquantel in women 15–34 with FGS-associated cervical lesions: - Primary outcome: “A minor and insignificant reduction in cervical lesions” in both arms at week 15. - Biomarkers: “The reduction in number of women testing positive for CAA and mean CAA values was significant in both arms but less so in the single-dose arm.” - Safety: “Mild to moderate adverse events of equal proportions” in both arms. - Conclusion emphasizes early-life initiation to prevent lesion establishment: “FGS-associated cervical lesions appear refractory to PZQ treatment even when this is administered in a repeated-dosing regimen.” (arenholt2024repeatedversussingle pages 1-2)

13. Prevention

13.1 Integrated control strategy (current consensus)

A 2023 expert perspective on implementing WHO guidelines emphasizes that elimination requires integrated interventions beyond chemotherapy. It states: “In Brazil, the provision of safe water and sanitation should be the key action to achieve schistosomiasis elimination goals,” and notes that MDA should be integrated with water/sanitation, education/communication (IEC), and snail control; praziquantel should be administered under medical supervision at the primary care level. (menezes2023fioschisto’sexpertperspective pages 1-2)

13.2 Primary prevention

  • Reduce freshwater exposure to cercariae; improve water and sanitation to prevent egg contamination of freshwater. (ponzo2024insightsintothe pages 1-2, menezes2023fioschisto’sexpertperspective pages 1-2)

13.3 Secondary prevention

  • Surveillance and screening using more sensitive diagnostics (CAA/CCA, molecular tools) to identify ongoing transmission, particularly in low-intensity settings. (vaillant2024diagnostictestsfor pages 4-4, ally2024schistosomiasisdiagnosischallenges pages 4-6)

13.4 Tertiary prevention

  • Maintain preventive chemotherapy coverage and integrate with WASH/IEC/snail control to reduce reinfection and chronic sequelae. (vere2024effectsofpaediatric pages 15-17, menezes2023fioschisto’sexpertperspective pages 1-2)

14. Other species / natural disease

Zoonotic/hybrid schistosomes were referenced as emerging concerns in recent literature, but detailed taxonomy/reservoir statistics were not extracted in the evidence set for this run.

15. Model organisms

The retrieved evidence did not include detailed descriptions of laboratory model organisms; however, mechanistic and vaccine development pipelines commonly use murine and other experimental systems (not specifically cited in the extracted passages).

Expert opinions and authoritative analysis (2023–2024)

  • WHO/implementation-focused expert consensus: FioSchisto (Fiocruz) argues that safe water/sanitation and intersectoral action are central to elimination; MDA should be integrated and used selectively, with improved surveillance (two-stage immunological + molecular testing) to verify transmission interruption. (menezes2023fioschisto’sexpertperspective pages 1-2)
  • FGS clinical/public health expertise: WHO-endorsed tools (Pocket Atlas, digital supports, e-learning) were co-designed to transfer scarce expert diagnostic knowledge for FGS into low-resource health systems, acknowledging lack of gold standard and risk of misdiagnosis with cervical cancer/STI syndromes. (martinez2024thewhoatlas pages 1-2)

Real-world implementations and applications (examples from recent evidence)

  • School-based praziquantel MDA is implemented nationally in Ethiopia since 2015; recent cohort studies evaluate efficacy/safety and highlight diagnostic-dependent cure-rate interpretation. (alemu2024efficacyandsafety pages 1-2)
  • Kenya implementation planning for pediatric arPZQ is actively informed by community-preference studies (cMDA vs facility delivery) and hard-to-reach platform assessments (door-to-door). (isaiah2024contextualfactorsinfluencing pages 1-2, masaku2024communitypreferreddrug pages 1-2)
  • FGS clinical trials are evaluating dosing strategies and biomarker endpoints (CAA, cervicovaginal DNA), with implications for prevention timing. (arenholt2024repeatedversussingle pages 1-2)

Key statistics (recent)

  • “More than 250 million people” infected (review-level estimate). (ponzo2024insightsintothe pages 1-2)
  • “Globally in 2021… 251.4 million individuals… in requirement of preventive therapy” and 75.3 million treated; “27% decrease in treatment coverage” during COVID-19 disruptions. (chatterji2024arecentadvance pages 2-3)
  • Diagnostic performance (meta-analysis): CCA1 sensitivity 95% / specificity 74% (for S. mansoni); CAA sensitivity 90% / specificity 95%. (vaillant2024diagnostictestsfor pages 4-4)
  • PZQ efficacy (Ethiopia cohorts): cure ≈88–89%, ERR ≈91–94%; adverse events ≈17–24% (mostly mild/transient). (alemu2024efficacyandsafety pages 1-2, gebreyesus2023efficacyandsafety pages 1-2)
  • Kenya pediatric delivery preference: cMDA preferred by 86.7% (598/690). (masaku2024communitypreferreddrug pages 1-2)
  • Malawi FGS burden: visual-FGS 26.9% vs molecular-FGS 8.2% in adult women. (lamberti2024femalegenitalschistosomiasis pages 1-2)

Notes on evidence limitations for knowledge base population

Several requested items (formal ontology IDs, granular phenotype frequencies across all organ systems, host genetic susceptibility loci, and model organism details) were not available in the retrieved tool evidence. They should be added via additional targeted retrieval from authoritative terminologies (MONDO, MeSH, ICD-11 browser, Orphanet) and host genetics resources.

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