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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name: Schistosomiasis
creation_date: '2026-01-26T03:01:01Z'
updated_date: '2026-04-11T01:06:52Z'
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.
- 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.
phenotypes:
- name: Anemia
category: Hematologic
frequency: FREQUENT
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: OCCASIONAL
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.
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
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.
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.
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.
Search first: OMIM, Orphanet, ICD-10/ICD-11, MeSH, PubMed
Search first: PubMed, Cochrane Library, UpToDate, clinical guidelines, ClinVar, ClinGen, GWAS Catalog, PheGenI, CTD, CDC, WHO, epidemiological databases
Search first: PubMed, Cochrane Library, clinical trial databases, GWAS Catalog, gnomAD, WHO, CDC, nutrition databases
Search first: CTD, PubMed, PheGenI, GxE databases
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
Search first: OMIM, ClinVar, HGMD, Ensembl, NCBI Gene
Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth
Search first: DECIPHER, ClinVar, ECARUCA, UCSC Genome Browser
Search first: CTD (Comparative Toxicogenomics Database), TOXNET, PubMed, EPA databases
Search first: CDC databases, WHO, PubMed, NHANES
Search first: NCBI Taxonomy, ViPR, BV-BRC, MicrobeDB, GIDEON
Search first: KEGG, Reactome, WikiPathways, PathBank, BioCyc
Search first: Gene Ontology (GO), Reactome, KEGG, PubMed
Search first: UniProt, PDB (Protein Data Bank), InterPro, Pfam, AlphaFold
Search first: KEGG, BioCyc, HMDB (Human Metabolome Database), BRENDA
Search first: ImmPort, Immunome Database, IEDB, Gene Ontology
Search first: PubMed, Gene Ontology, Reactome
Search first: BRENDA, UniProt, KEGG, OMIM, PubMed
Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth
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
Search first: Uberon, FMA (Foundational Model of Anatomy), OMIM, HPO, ICD-11, MeSH, SNOMED CT
Search first: Uberon, Human Protein Atlas, Cell Ontology, Human Cell Atlas, CellMarker, PanglaoDB
Search first: Gene Ontology (Cellular Component), UniProt, Human Protein Atlas
Search first: OMIM, Orphanet, HPO, PubMed
Search first: Disease registries, longitudinal cohort databases, natural history studies, PubMed, Orphanet, OMIM
Search first: Orphanet, CDC, WHO, GBD (Global Burden of Disease), national registries, SEER, disease registries
Search first: GTR (Genetic Testing Registry), GeneReviews, ClinGen
For each treatment, suggest MAXO (Medical Action Ontology) terms where applicable.
Search first: CDC vaccine schedules, WHO immunization, FDA vaccine database
Search first: CDC, WHO, behavioral intervention databases, Cochrane Library
Search first: NSGC resources, ACMG guidelines, GeneReviews
Search first: Clinical guidelines, FDA approvals, PubMed
Search first: NCBI Taxonomy
Search first: VBO (Vertebrate Breed Ontology)
Search first: NCBI Gene
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 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.
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)
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.
Commonly used synonym: bilharzia / bilharziasis (used in contemporary literature describing human schistosomiasis). (hameister2023prevalenceofschistosoma pages 10-14)
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)
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)
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)
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)
Human host genetic susceptibility/protection and explicit gene–environment interactions were not captured in the retrieved evidence.
Schistosomiasis phenotypes depend on infecting species, worm burden, tissue egg deposition sites, and duration of infection.
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)
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)
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)
FGS is a chronic manifestation of S. haematobium egg deposition in the genital tract and may mimic STIs and cervical cancer.
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)
Schistosomiasis is not a monogenic human disorder; it is an infectious disease. No human causal genes (OMIM-style) are applicable.
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)
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.
Key environmental determinants are those enabling snail habitats and human freshwater contact.
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)
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)
Suggested UBERON terms (examples): - Liver (UBERON:0002107) - Spleen (UBERON:0002106) - Urinary bladder (UBERON:0001255) - Uterine cervix (UBERON:0000002)
Geographic distribution: burden concentrated in Africa, South America, and Asia in contemporary reviews. (ponzo2024insightsintothe pages 1-2)
Schistosomiasis is an infectious disease and does not follow Mendelian inheritance.
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)
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)
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)
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)
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)
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)
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)
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)
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)
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.
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).
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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