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8
Pathophys.
1
Histopath.
10
Phenotypes
14
Pathograph
5
Treatments
5
Subtypes
3
Trials
19
References
1
Deep Research

Subtypes

5
Primary sclerosing cholangitis MONDO:0013433
Idiopathic chronic sclerosing cholangitis strongly associated with inflammatory bowel disease and progressive multifocal bile-duct strictures.
Secondary sclerosing cholangitis MONDO:0018647
Sclerosing cholangitis caused by identifiable secondary injuries such as ischemic, infectious, toxic, obstructive, or post-critical-illness bile-duct damage.
IgG4-related sclerosing cholangitis MONDO:0018645
Biliary manifestation of IgG4-related disease, often associated with autoimmune pancreatitis and steroid responsiveness.
Neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0011874
Syndromic neonatal form with sclerosing cholangitis and ichthyosis.
Isolated neonatal sclerosing cholangitis MONDO:0018816
Neonatal sclerosing cholangitis without the syndromic ichthyosis component.

Pathophysiology

8
Gut-Liver Axis Barrier Disruption and Dysbiosis
In primary sclerosing cholangitis, intestinal barrier disruption and dysbiosis permit microbial products to reach the portal circulation and amplify hepatobiliary immune activation.
inflammatory response link ↑ INCREASED
Show evidence (2 references)
DOI:10.3390/jcm14217817 SUPPORT Human Clinical
"In particular, disruption of the intestinal barrier allows microbial products to enter the portal circulation, stimulating hepatic immune cells and triggering biliary inflammation."
Supports gut-barrier disruption and portal microbial delivery as an upstream inflammatory mechanism in PSC.
DOI:10.3390/jcm14217817 SUPPORT Human Clinical
"Dysbiosis, characterized by reduced microbial diversity and the expansion of bile-tolerant and pro-inflammatory taxa, amplifies this immune activation and disturbs gut–liver homeostasis."
Supports dysbiosis as an amplifier of PSC immune activation.
Hepatic Innate Immune Activation
Microbial and cholestatic signals activate cholangiocytes and liver macrophages, producing inflammatory cytokine and chemokine signaling in the biliary tree.
Cholangiocyte link Kupffer cell / liver macrophage link
inflammatory response link ↑ INCREASED
Show evidence (1 reference)
PMID:39250501 SUPPORT Human Clinical
"The crosstalk between cholangiocytes and cells of the innate (neutrophils and macrophages) and adaptive (T cells and B cells) immune systems is also examined in detail."
Supports cholangiocyte interaction with innate and adaptive immune cells as a central cholangiopathy mechanism.
Aberrant Gut-Primed Lymphocyte Trafficking
Gut-primed lymphocytes aberrantly home to the liver and biliary tree, sustaining antigen-driven cholangiocyte injury in PSC-associated gut-liver-axis disease.
CD4-positive T cell link Th17 cell link regulatory T cell link
leukocyte migration link ⚠ ABNORMAL
Show evidence (1 reference)
DOI:10.3390/jcm14217817 SUPPORT Human Clinical
"Concurrently, gut-primed lymphocytes expressing mucosal homing receptors migrate aberrantly to the liver, where they may contribute to biliary epithelial cell injury."
Supports aberrant lymphocyte trafficking from the gut to liver as a PSC injury pathway.
Bile Acid Signaling Dysregulation
Dysregulated bile-acid receptor signaling in cholangiocytes and the gut-liver axis promotes cholestasis, inflammation, and fibrotic remodeling.
Cholangiocyte link
bile acid metabolic process link ⚠ ABNORMAL
Show evidence (2 references)
DOI:10.3390/jcm14217817 SUPPORT Human Clinical
"Moreover, bile acids act as signaling molecules, regulating metabolism and immune responses through receptors such as FXR and TGR5. Dysregulation of these pathways may promote cholestasis, inflammation, and fibrosis."
Supports bile-acid signaling dysregulation as a contributor to cholestasis, inflammation, and fibrosis.
DOI:10.3390/cells13191650 SUPPORT Human Clinical
"Recent studies have revealed that these cells undergo a downregulation of GPBAR1 (TGR5), a bile acid receptor involved in bicarbonate secretion and immune regulation."
Supports cholangiocyte bile-acid receptor dysregulation in PSC.
Bile Duct Inflammation
Inflammatory injury of the bile-duct epithelium and duct wall is a shared upstream feature across sclerosing cholangitis categories.
Cholangiocyte link Kupffer cell / liver macrophage link CD4-positive T cell link Th17 cell link regulatory T cell link
inflammatory response link ↑ INCREASED
Show evidence (1 reference)
PMID:30205418 SUPPORT Human Clinical
"Sclerosing cholangitis (SC) is defined as a condition with progressive stenosis and destruction of the bile ducts due to diffuse inflammation and fibrosis and currently includes three categories: primary sclerosing cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing cholangitis..."
This review defines the root condition by bile-duct inflammation, fibrosis, stenosis, and destruction and identifies major clinical categories.
Cholangiocyte Senescence-Associated Fibrogenesis
Stressed cholangiocytes can acquire a senescence-associated secretory phenotype that is proinflammatory and profibrogenic, driving crosstalk with portal fibroblasts and hepatic stellate cells.
Cholangiocyte link Hepatic stellate cell link
cellular senescence link ↑ INCREASED extracellular matrix organization link ↑ INCREASED
Show evidence (1 reference)
PMID:39250501 SUPPORT Human Clinical
"The proclivity of these cells to undergo a senescence-associated secretory phenotype, which is proinflammatory and profibrogenic, and the intrinsic intracellular activation pathways resulting in the secretion of cytokines and chemokines are reviewed."
Supports cholangiocyte SASP as a proinflammatory and profibrogenic mechanism in cholangiopathies.
Bile Duct Fibrostenosis
Fibrotic remodeling of affected bile ducts narrows the duct lumen, producing strictures and downstream cholestasis.
Hepatic stellate cell link
extracellular matrix organization link ↑ INCREASED
Show evidence (1 reference)
PMID:30205418 SUPPORT Human Clinical
"Sclerosing cholangitis (SC) is defined as a condition with progressive stenosis and destruction of the bile ducts due to diffuse inflammation and fibrosis and currently includes three categories: primary sclerosing cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing cholangitis..."
The definition directly supports progressive bile-duct stenosis and fibrosis as central shared pathobiology.
Cholestatic Liver Injury
Persistent obstruction and cholestasis from bile-duct strictures drive cholestatic liver injury and can progress to biliary cirrhosis.
cholangiocyte apoptotic process link ↑ INCREASED
Show evidence (1 reference)
PMID:39250501 SUPPORT Human Clinical
"Cholangiopathies comprise a spectrum of chronic intrahepatic and extrahepatic biliary tract disorders culminating in progressive cholestatic liver injury, fibrosis, and often cirrhosis and its sequela."
This cholangiopathy review supports progression from biliary-tract disease to cholestatic liver injury, fibrosis, and cirrhosis.

Histopathology

1
Periductal onion-skin fibrosis
Concentric periductal fibrosis and fibrous obliterative cholangitis are classic PSC-compatible histopathology findings, particularly in small-duct or recurrent disease contexts.

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Sclerosing Cholangitis 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

10
Digestive 5
Sclerosing Cholangitis Sclerosing cholangitis (HP:0030991)
Show evidence (1 reference)
PMID:30205418 SUPPORT Human Clinical
"Sclerosing cholangitis (SC) is defined as a condition with progressive stenosis and destruction of the bile ducts due to diffuse inflammation and fibrosis and currently includes three categories: primary sclerosing cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing cholangitis..."
The abstract definition supports sclerosing cholangitis as the diagnostic phenotype of the root disorder.
Cholestasis Cholestasis (HP:0001396)
Show evidence (1 reference)
PMID:30205418 SUPPORT Human Clinical
"SC categories share similar clinical features, such as cholestasis."
This review supports cholestasis as a shared clinical feature across sclerosing cholangitis categories.
Jaundice Jaundice (HP:0000952)
Show evidence (1 reference)
PMID:30205418 SUPPORT Human Clinical
"Patients with SC present with cholestatic symptoms, including jaundice and pruritus, and blood tests reveal elevation of cholestatic enzymes."
This directly supports jaundice as a cholestatic symptom of sclerosing cholangitis.
Hepatic fibrosis Hepatic fibrosis (HP:0001395)
Show evidence (1 reference)
PMID:39250501 SUPPORT Human Clinical
"Cholangiopathies comprise a spectrum of chronic intrahepatic and extrahepatic biliary tract disorders culminating in progressive cholestatic liver injury, fibrosis, and often cirrhosis and its sequela."
Supports hepatic fibrosis as a central downstream consequence of cholangiopathies including sclerosing cholangitis.
Cirrhosis Cirrhosis (HP:0001394)
Show evidence (1 reference)
PMID:39250501 SUPPORT Human Clinical
"Cholangiopathies comprise a spectrum of chronic intrahepatic and extrahepatic biliary tract disorders culminating in progressive cholestatic liver injury, fibrosis, and often cirrhosis and its sequela."
Supports cirrhosis as an advanced outcome of chronic cholangiopathy.
Integument 1
Pruritus Pruritus (HP:0000989)
Show evidence (1 reference)
PMID:30205418 SUPPORT Human Clinical
"Patients with SC present with cholestatic symptoms, including jaundice and pruritus, and blood tests reveal elevation of cholestatic enzymes."
This directly supports pruritus as a cholestatic symptom of sclerosing cholangitis.
Constitutional 2
Fatigue Fatigue (HP:0012378)
Abdominal pain Abdominal pain (HP:0002027)
Other 2
Elevated alkaline phosphatase Elevated circulating alkaline phosphatase concentration (HP:0003155)
Show evidence (1 reference)
DOI:10.1007/s00535-025-02265-5 SUPPORT Human Clinical
"As there were no specific biomarkers for diagnosing PSC, we developed diagnostic criteria in 2016 based on cholangiography and elevated biliary enzymes."
Supports elevated cholestatic/biliary enzymes as part of PSC diagnostic criteria; alkaline phosphatase is modeled as the best HPO-bound cholestatic enzyme phenotype.
Elevated gamma-glutamyl transferase
Show evidence (1 reference)
DOI:10.1007/s00535-025-02265-5 SUPPORT Human Clinical
"The 2024 diagnostic criteria facilitate the use of magnetic resonance cholangiography in addition to endoscopic retrograde cholangiography in imaging, and incorporate gamma-glutamyl transferase for evaluating cholestasis to diagnose pediatric patients."
Supports GGT as a diagnostic cholestasis measure. The review-suggested HP:0003285 binding is not present in the local HPO cache, so this keeps a preferred-term-only descriptor.
💊

Treatments

5
Etiology-Directed Management
Treatment depends on the subtype and cause: IgG4-related disease is often immunosuppression-responsive, dominant strictures may need endoscopic management, secondary forms require treatment of the inciting injury, and advanced disease can require liver transplantation.
Liver Transplantation
Action: liver transplantation MAXO:0001175
Liver transplantation is used for end-stage or otherwise advanced sclerosing cholangitis when progressive liver failure or complications cannot be controlled.
Target Phenotypes: Cirrhosis
Show evidence (1 reference)
DOI:10.3390/jcm15031149 SUPPORT Human Clinical
"Most patients eventually require liver transplantation or develop serious complications, the most severe being end-stage liver disease and cholangiocarcinoma."
Supports liver transplantation as a major advanced-disease treatment endpoint in PSC.
ERCP-Based Stricture Management
Action: endoscopic retrograde cholangiopancreatography MAXO:0035049
ERCP can be used diagnostically and therapeutically in dominant or clinically relevant strictures, including dilation or stenting when appropriate.
Mechanism Target:
MODULATES Bile Duct Fibrostenosis — Endoscopic therapy mechanically addresses dominant strictures.
Show evidence (1 reference)
DOI:10.1007/s00535-025-02265-5 PARTIAL Human Clinical
"The 2024 diagnostic criteria facilitate the use of magnetic resonance cholangiography in addition to endoscopic retrograde cholangiography in imaging, and incorporate gamma-glutamyl transferase for evaluating cholestasis to diagnose pediatric patients."
Supports ERCP as a core procedure in PSC evaluation; the therapeutic dilation/stenting role is retained in the description without a stronger abstract-level quote.
norUrsodeoxycholic Acid
Action: Pharmacotherapy NCIT:C15986
norUDCA is an investigational bile-acid therapy in phase 3 testing for PSC.
Mechanism Target:
MODULATES Bile Acid Signaling Dysregulation — norUDCA targets bile-acid biology and cholestatic injury.
Show evidence (1 reference)
clinicaltrials:NCT03872921 SUPPORT Human Clinical
"Double-blind, randomized, multi-center, placebo-controlled, comparative, phase III trial. The study will be conducted with two treatment groups in the form of a parallel group comparison and will serve to compare oral treatment with either 1500 mg/d norursodeoxycholic acid capsules or placebo..."
Supports norUDCA as an investigational PSC pharmacotherapy in a phase 3 randomized trial.
Fecal Microbiota Transplantation
Action: fecal microbiota transplantation MAXO:0000748
FMT is an investigational gut-microbiome-directed intervention for PSC, particularly in PSC with concomitant IBD.
Mechanism Target:
MODULATES Gut-Liver Axis Barrier Disruption and Dysbiosis — FMT aims to alter gut microbiota contributing to PSC biology.
Show evidence (1 reference)
clinicaltrials:NCT02424175 SUPPORT Human Clinical
"This is an open-label single-arm pilot study to measure the safety, microbiological and clinical impacts of Fecal Microbiota Transplantation (FMT) in patients with Primary Sclerosing Cholangitis (PSC)."
Supports FMT as an investigational microbiome-directed intervention in PSC.
🌍

Environmental Factors

1
Inflammatory bowel disease comorbidity context
IBD is not modeled in a dedicated comorbidities slot because the current Disease schema has no such top-level slot, but the PSC-IBD association is a major clinical context for sclerosing cholangitis.
Show evidence (1 reference)
DOI:10.1136/gutjnl-2023-330856 SUPPORT Human Clinical
"There is a strong clinical association between IBD and primary sclerosing cholangitis (PSC), a chronic disease of the liver characterised by biliary inflammation that leads to strictures and fibrosis."
Supports IBD as a major clinical association/comorbidity context for PSC within the sclerosing cholangitis umbrella.
🔬

Biochemical Markers

3
Cholestatic Enzymes (Elevated)
Context: Blood tests show a cholestatic pattern in clinically apparent disease.
Show evidence (1 reference)
PMID:30205418 SUPPORT Human Clinical
"Patients with SC present with cholestatic symptoms, including jaundice and pruritus, and blood tests reveal elevation of cholestatic enzymes."
Supports elevated cholestatic enzymes as a shared biochemical feature.
Alkaline Phosphatase (Elevated)
Context: Adult cholestatic diagnostic pattern.
Gamma-Glutamyl Transferase (Elevated)
Context: Pediatric and cholestasis-focused diagnostic pattern.
🔬

Clinical Trials

3
NCT03872921 PHASE_III
Randomized placebo-controlled phase 3 norUDCA trial in primary sclerosing cholangitis.
Show evidence (1 reference)
clinicaltrials:NCT03872921 SUPPORT Human Clinical
"Double-blind, randomized, multi-center, placebo-controlled, comparative, phase III trial."
Supports this as a phase 3 PSC norUDCA clinical trial.
NCT02424175
Open-label pilot FMT study in PSC patients, including patients with concurrent inflammatory bowel disease.
Show evidence (1 reference)
clinicaltrials:NCT02424175 SUPPORT Human Clinical
"This is an open-label single-arm pilot study to measure the safety, microbiological and clinical impacts of Fecal Microbiota Transplantation (FMT) in patients with Primary Sclerosing Cholangitis (PSC)."
Supports this as an FMT pilot study in PSC.
NCT06286709 PHASE_II
FARGO randomized phase IIa multicenter placebo-controlled FMT trial in PSC with concomitant IBD.
Show evidence (1 reference)
clinicaltrials:NCT06286709 SUPPORT Human Clinical
"FARGO is a randomised, phase IIa, multi-centre, placebo-controlled trial to compare Faecal Microbiota Transplant (FMT) with placebo in patients with primary sclerosing cholangitis (PSC) and concomitant inflammatory bowel disease."
Supports this as a phase 2 randomized FMT trial in PSC-IBD.
{ }

Source YAML

click to show
name: Sclerosing Cholangitis
creation_date: "2026-05-07T15:54:15Z"
updated_date: "2026-05-07T17:04:52Z"
category: Complex
parents:
- Liver Disease
- Cholangiopathy
synonyms:
- Sclerosing cholangitis
disease_term:
  preferred_term: sclerosing cholangitis
  term:
    id: MONDO:0018646
    label: sclerosing cholangitis
description: >-
  Sclerosing cholangitis is a fibroinflammatory cholangiopathy in which
  inflammation and fibrosis progressively narrow and damage intrahepatic and/or
  extrahepatic bile ducts, causing cholestasis, cholestatic symptoms, and risk
  of downstream liver injury. The root concept includes primary, secondary,
  IgG4-related, and neonatal forms whose upstream triggers differ but converge
  on bile-duct stenosis and destruction.
has_subtypes:
- name: Primary sclerosing cholangitis
  subtype_term:
    preferred_term: primary sclerosing cholangitis
    term:
      id: MONDO:0013433
      label: primary sclerosing cholangitis
  description: >-
    Idiopathic chronic sclerosing cholangitis strongly associated with
    inflammatory bowel disease and progressive multifocal bile-duct strictures.
- name: Secondary sclerosing cholangitis
  subtype_term:
    preferred_term: secondary sclerosing cholangitis
    term:
      id: MONDO:0018647
      label: secondary sclerosing cholangitis
  description: >-
    Sclerosing cholangitis caused by identifiable secondary injuries such as
    ischemic, infectious, toxic, obstructive, or post-critical-illness bile-duct
    damage.
- name: IgG4-related sclerosing cholangitis
  subtype_term:
    preferred_term: IgG4-related sclerosing cholangitis
    term:
      id: MONDO:0018645
      label: IgG4-related sclerosing cholangitis
  description: >-
    Biliary manifestation of IgG4-related disease, often associated with
    autoimmune pancreatitis and steroid responsiveness.
- name: Neonatal ichthyosis-sclerosing cholangitis syndrome
  subtype_term:
    preferred_term: neonatal ichthyosis-sclerosing cholangitis syndrome
    term:
      id: MONDO:0011874
      label: neonatal ichthyosis-sclerosing cholangitis syndrome
  description: >-
    Syndromic neonatal form with sclerosing cholangitis and ichthyosis.
- name: Isolated neonatal sclerosing cholangitis
  subtype_term:
    preferred_term: isolated neonatal sclerosing cholangitis
    term:
      id: MONDO:0018816
      label: isolated neonatal sclerosing cholangitis
  description: >-
    Neonatal sclerosing cholangitis without the syndromic ichthyosis component.
progression:
- phase: Chronic fibroinflammatory cholangiopathy
  notes: >-
    Sclerosing cholangitis is usually chronic and progressive, with persistent
    biliary inflammation, ductal obliteration, hepatic dysfunction, and eventual
    risk of cirrhosis.
  evidence:
  - reference: DOI:10.3390/jcm15031149
    reference_title: Primary Sclerosing Cholangitis in 2026
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Primary sclerosing cholangitis is a rare, chronic, inflammatory disease
      of the biliary tree that leads to progressive ductal obliteration,
      hepatic dysfunction, and ultimately liver cirrhosis.
    explanation: >-
      Supports chronic progression from biliary inflammation and ductal
      obliteration to hepatic dysfunction and cirrhosis.
- phase: Advanced complications
  notes: >-
    Advanced disease can require transplantation and PSC-IBD carries elevated
    colorectal and cholangiocarcinoma surveillance burden.
  evidence:
  - reference: DOI:10.3390/cancers17132165
    reference_title: Navigating Neoplasm Risk in Inflammatory Bowel Disease and
      Primary Sclerosing Cholangitis
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Patients with inflammatory bowel disease (IBD) and primary sclerosing
      cholangitis (PSC) face a significantly increased risk of malignancies,
      including a 10-fold higher risk for colorectal cancer (CRC) and a
      lifetime risk for cholangiocarcinoma (CCA) exceeding 20%.
    explanation: >-
      Supports malignancy risk as a major advanced-disease surveillance issue
      in PSC-IBD.
pathophysiology:
- name: Gut-Liver Axis Barrier Disruption and Dysbiosis
  description: >-
    In primary sclerosing cholangitis, intestinal barrier disruption and
    dysbiosis permit microbial products to reach the portal circulation and
    amplify hepatobiliary immune activation.
  biological_processes:
  - preferred_term: inflammatory response
    term:
      id: GO:0006954
      label: inflammatory response
    modifier: INCREASED
  downstream:
  - target: Hepatic Innate Immune Activation
    description: Portal microbial products stimulate hepatic innate immune cells.
  evidence:
  - reference: DOI:10.3390/jcm14217817
    reference_title: 'Gut–Liver Axis, Microbiota, Bile Acids, and Immune Response
      in Pathogenesis of Primary Sclerosing Cholangitis: An Overview'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      In particular, disruption of the intestinal barrier allows microbial
      products to enter the portal circulation, stimulating hepatic immune cells
      and triggering biliary inflammation.
    explanation: >-
      Supports gut-barrier disruption and portal microbial delivery as an
      upstream inflammatory mechanism in PSC.
  - reference: DOI:10.3390/jcm14217817
    reference_title: 'Gut–Liver Axis, Microbiota, Bile Acids, and Immune Response
      in Pathogenesis of Primary Sclerosing Cholangitis: An Overview'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Dysbiosis, characterized by reduced microbial diversity and the expansion
      of bile-tolerant and pro-inflammatory taxa, amplifies this immune
      activation and disturbs gut–liver homeostasis.
    explanation: >-
      Supports dysbiosis as an amplifier of PSC immune activation.
- name: Hepatic Innate Immune Activation
  description: >-
    Microbial and cholestatic signals activate cholangiocytes and liver
    macrophages, producing inflammatory cytokine and chemokine signaling in the
    biliary tree.
  cell_types:
  - preferred_term: Cholangiocyte
    term:
      id: CL:1000488
      label: cholangiocyte
  - preferred_term: Kupffer cell / liver macrophage
    term:
      id: CL:0000235
      label: macrophage
  biological_processes:
  - preferred_term: inflammatory response
    term:
      id: GO:0006954
      label: inflammatory response
    modifier: INCREASED
  downstream:
  - target: Bile Duct Inflammation
    description: Innate inflammatory activation injures the biliary epithelium.
  evidence:
  - reference: PMID:39250501
    reference_title: Central role for cholangiocyte pathobiology in cholestatic
      liver diseases.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The crosstalk between cholangiocytes and cells of the innate (neutrophils
      and macrophages) and adaptive (T cells and B cells) immune systems is also
      examined in detail.
    explanation: >-
      Supports cholangiocyte interaction with innate and adaptive immune cells
      as a central cholangiopathy mechanism.
- name: Aberrant Gut-Primed Lymphocyte Trafficking
  description: >-
    Gut-primed lymphocytes aberrantly home to the liver and biliary tree,
    sustaining antigen-driven cholangiocyte injury in PSC-associated
    gut-liver-axis disease.
  cell_types:
  - preferred_term: CD4-positive T cell
    term:
      id: CL:0000624
      label: CD4-positive, alpha-beta T cell
  - preferred_term: Th17 cell
    term:
      id: CL:0000899
      label: T-helper 17 cell
  - preferred_term: regulatory T cell
    term:
      id: CL:0000815
      label: regulatory T cell
  biological_processes:
  - preferred_term: leukocyte migration
    term:
      id: GO:0050900
      label: leukocyte migration
    modifier: ABNORMAL
  downstream:
  - target: Bile Duct Inflammation
    description: Aberrant immune trafficking sustains bile-duct injury.
  evidence:
  - reference: DOI:10.3390/jcm14217817
    reference_title: 'Gut–Liver Axis, Microbiota, Bile Acids, and Immune Response
      in Pathogenesis of Primary Sclerosing Cholangitis: An Overview'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Concurrently, gut-primed lymphocytes expressing mucosal homing receptors
      migrate aberrantly to the liver, where they may contribute to biliary
      epithelial cell injury.
    explanation: >-
      Supports aberrant lymphocyte trafficking from the gut to liver as a PSC
      injury pathway.
- name: Bile Acid Signaling Dysregulation
  description: >-
    Dysregulated bile-acid receptor signaling in cholangiocytes and the
    gut-liver axis promotes cholestasis, inflammation, and fibrotic remodeling.
  cell_types:
  - preferred_term: Cholangiocyte
    term:
      id: CL:1000488
      label: cholangiocyte
  biological_processes:
  - preferred_term: bile acid metabolic process
    term:
      id: GO:0008206
      label: bile acid metabolic process
    modifier: ABNORMAL
  downstream:
  - target: Cholestatic Liver Injury
    description: Dysregulated bile-acid signaling contributes to cholestasis.
  - target: Bile Duct Fibrostenosis
    description: Bile-acid dysregulation can promote inflammation and fibrosis.
  evidence:
  - reference: DOI:10.3390/jcm14217817
    reference_title: 'Gut–Liver Axis, Microbiota, Bile Acids, and Immune Response
      in Pathogenesis of Primary Sclerosing Cholangitis: An Overview'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Moreover, bile acids act as signaling molecules, regulating metabolism
      and immune responses through receptors such as FXR and TGR5.
      Dysregulation of these pathways may promote cholestasis, inflammation,
      and fibrosis.
    explanation: >-
      Supports bile-acid signaling dysregulation as a contributor to
      cholestasis, inflammation, and fibrosis.
  - reference: DOI:10.3390/cells13191650
    reference_title: 'Bile Acids-Based Therapies for Primary Sclerosing Cholangitis:
      Current Landscape and Future Developments'
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Recent studies have revealed that these cells undergo a downregulation of
      GPBAR1 (TGR5), a bile acid receptor involved in bicarbonate secretion and
      immune regulation.
    explanation: >-
      Supports cholangiocyte bile-acid receptor dysregulation in PSC.
- name: Bile Duct Inflammation
  description: >-
    Inflammatory injury of the bile-duct epithelium and duct wall is a shared
    upstream feature across sclerosing cholangitis categories.
  cell_types:
  - preferred_term: Cholangiocyte
    term:
      id: CL:1000488
      label: cholangiocyte
  - preferred_term: Kupffer cell / liver macrophage
    term:
      id: CL:0000235
      label: macrophage
  - preferred_term: CD4-positive T cell
    term:
      id: CL:0000624
      label: CD4-positive, alpha-beta T cell
  - preferred_term: Th17 cell
    term:
      id: CL:0000899
      label: T-helper 17 cell
  - preferred_term: regulatory T cell
    term:
      id: CL:0000815
      label: regulatory T cell
  biological_processes:
  - preferred_term: inflammatory response
    term:
      id: GO:0006954
      label: inflammatory response
    modifier: INCREASED
  downstream:
  - target: Bile Duct Fibrostenosis
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Sclerosing cholangitis (SC) is defined as a condition with progressive
      stenosis and destruction of the bile ducts due to diffuse inflammation
      and fibrosis and currently includes three categories: primary sclerosing
      cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing
      cholangitis (IgG4-SC).
    explanation: >-
      This review defines the root condition by bile-duct inflammation,
      fibrosis, stenosis, and destruction and identifies major clinical
      categories.
- name: Cholangiocyte Senescence-Associated Fibrogenesis
  description: >-
    Stressed cholangiocytes can acquire a senescence-associated secretory
    phenotype that is proinflammatory and profibrogenic, driving crosstalk with
    portal fibroblasts and hepatic stellate cells.
  cell_types:
  - preferred_term: Cholangiocyte
    term:
      id: CL:1000488
      label: cholangiocyte
  - preferred_term: Hepatic stellate cell
    term:
      id: CL:0000632
      label: hepatic stellate cell
  biological_processes:
  - preferred_term: cellular senescence
    term:
      id: GO:0090398
      label: cellular senescence
    modifier: INCREASED
  - preferred_term: extracellular matrix organization
    term:
      id: GO:0030198
      label: extracellular matrix organization
    modifier: INCREASED
  downstream:
  - target: Bile Duct Fibrostenosis
    description: Senescent cholangiocyte signaling promotes periductal fibrosis.
  evidence:
  - reference: PMID:39250501
    reference_title: Central role for cholangiocyte pathobiology in cholestatic
      liver diseases.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The proclivity of these cells to undergo a senescence-associated secretory
      phenotype, which is proinflammatory and profibrogenic, and the intrinsic
      intracellular activation pathways resulting in the secretion of cytokines
      and chemokines are reviewed.
    explanation: >-
      Supports cholangiocyte SASP as a proinflammatory and profibrogenic
      mechanism in cholangiopathies.
- name: Bile Duct Fibrostenosis
  description: >-
    Fibrotic remodeling of affected bile ducts narrows the duct lumen, producing
    strictures and downstream cholestasis.
  cell_types:
  - preferred_term: Hepatic stellate cell
    term:
      id: CL:0000632
      label: hepatic stellate cell
  biological_processes:
  - preferred_term: extracellular matrix organization
    term:
      id: GO:0030198
      label: extracellular matrix organization
    modifier: INCREASED
  downstream:
  - target: Cholestatic Liver Injury
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Sclerosing cholangitis (SC) is defined as a condition with progressive
      stenosis and destruction of the bile ducts due to diffuse inflammation
      and fibrosis and currently includes three categories: primary sclerosing
      cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing
      cholangitis (IgG4-SC).
    explanation: >-
      The definition directly supports progressive bile-duct stenosis and
      fibrosis as central shared pathobiology.
- name: Cholestatic Liver Injury
  description: >-
    Persistent obstruction and cholestasis from bile-duct strictures drive
    cholestatic liver injury and can progress to biliary cirrhosis.
  biological_processes:
  - preferred_term: cholangiocyte apoptotic process
    term:
      id: GO:1902488
      label: cholangiocyte apoptotic process
    modifier: INCREASED
  downstream:
  - target: Hepatic fibrosis
  - target: Cirrhosis
  evidence:
  - reference: PMID:39250501
    reference_title: Central role for cholangiocyte pathobiology in cholestatic
      liver diseases.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Cholangiopathies comprise a spectrum of chronic intrahepatic and
      extrahepatic biliary tract disorders culminating in progressive
      cholestatic liver injury, fibrosis, and often cirrhosis and its sequela.
    explanation: >-
      This cholangiopathy review supports progression from biliary-tract
      disease to cholestatic liver injury, fibrosis, and cirrhosis.
histopathology:
- name: Periductal onion-skin fibrosis
  description: >-
    Concentric periductal fibrosis and fibrous obliterative cholangitis are
    classic PSC-compatible histopathology findings, particularly in small-duct
    or recurrent disease contexts.
phenotypes:
- category: Hepatobiliary
  name: Sclerosing Cholangitis
  diagnostic: true
  phenotype_term:
    preferred_term: Sclerosing cholangitis
    term:
      id: HP:0030991
      label: Sclerosing cholangitis
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing 
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Sclerosing cholangitis (SC) is defined as a condition with progressive
      stenosis and destruction of the bile ducts due to diffuse inflammation
      and fibrosis and currently includes three categories: primary sclerosing
      cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing
      cholangitis (IgG4-SC).
    explanation: >-
      The abstract definition supports sclerosing cholangitis as the diagnostic
      phenotype of the root disorder.
- category: Hepatobiliary
  name: Cholestasis
  phenotype_term:
    preferred_term: Cholestasis
    term:
      id: HP:0001396
      label: Cholestasis
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing 
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      SC categories share similar clinical features, such as cholestasis.
    explanation: >-
      This review supports cholestasis as a shared clinical feature across
      sclerosing cholangitis categories.
- category: Hepatobiliary
  name: Jaundice
  phenotype_term:
    preferred_term: Jaundice
    term:
      id: HP:0000952
      label: Jaundice
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing 
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Patients with SC present with cholestatic symptoms, including jaundice and
      pruritus, and blood tests reveal elevation of cholestatic enzymes.
    explanation: >-
      This directly supports jaundice as a cholestatic symptom of sclerosing
      cholangitis.
- category: Dermatological
  name: Pruritus
  phenotype_term:
    preferred_term: Pruritus
    term:
      id: HP:0000989
      label: Pruritus
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing 
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Patients with SC present with cholestatic symptoms, including jaundice and
      pruritus, and blood tests reveal elevation of cholestatic enzymes.
    explanation: >-
      This directly supports pruritus as a cholestatic symptom of sclerosing
      cholangitis.
- category: Systemic
  name: Fatigue
  description: >-
    Fatigue is a common patient-reported symptom in PSC-focused clinical
    summaries and is included here without a frequency claim because the cached
    abstracts do not provide a direct quantitative quote.
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
- category: Gastrointestinal
  name: Abdominal pain
  description: >-
    Abdominal pain can occur in symptomatic sclerosing cholangitis and
    cholangitis episodes; no frequency is asserted from the cached abstracts.
  phenotype_term:
    preferred_term: Abdominal pain
    term:
      id: HP:0002027
      label: Abdominal pain
- category: Laboratory
  name: Elevated alkaline phosphatase
  diagnostic: true
  phenotype_term:
    preferred_term: Elevated circulating alkaline phosphatase concentration
    term:
      id: HP:0003155
      label: Elevated circulating alkaline phosphatase concentration
  evidence:
  - reference: DOI:10.1007/s00535-025-02265-5
    reference_title: The 2024 diagnostic criteria for primary sclerosing
      cholangitis
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      As there were no specific biomarkers for diagnosing PSC, we developed
      diagnostic criteria in 2016 based on cholangiography and elevated biliary
      enzymes.
    explanation: >-
      Supports elevated cholestatic/biliary enzymes as part of PSC diagnostic
      criteria; alkaline phosphatase is modeled as the best HPO-bound
      cholestatic enzyme phenotype.
- category: Laboratory
  name: Elevated gamma-glutamyl transferase
  diagnostic: true
  phenotype_term:
    preferred_term: Elevated gamma-glutamyl transferase
  evidence:
  - reference: DOI:10.1007/s00535-025-02265-5
    reference_title: The 2024 diagnostic criteria for primary sclerosing
      cholangitis
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The 2024 diagnostic criteria facilitate the use of magnetic resonance
      cholangiography in addition to endoscopic retrograde cholangiography in
      imaging, and incorporate gamma-glutamyl transferase for evaluating
      cholestasis to diagnose pediatric patients.
    explanation: >-
      Supports GGT as a diagnostic cholestasis measure. The review-suggested
      HP:0003285 binding is not present in the local HPO cache, so this keeps a
      preferred-term-only descriptor.
- category: Hepatobiliary
  name: Hepatic fibrosis
  phenotype_term:
    preferred_term: Hepatic fibrosis
    term:
      id: HP:0001395
      label: Hepatic fibrosis
  evidence:
  - reference: PMID:39250501
    reference_title: Central role for cholangiocyte pathobiology in cholestatic
      liver diseases.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Cholangiopathies comprise a spectrum of chronic intrahepatic and
      extrahepatic biliary tract disorders culminating in progressive
      cholestatic liver injury, fibrosis, and often cirrhosis and its sequela.
    explanation: >-
      Supports hepatic fibrosis as a central downstream consequence of
      cholangiopathies including sclerosing cholangitis.
- category: Hepatobiliary
  name: Cirrhosis
  phenotype_term:
    preferred_term: Cirrhosis
    term:
      id: HP:0001394
      label: Cirrhosis
  evidence:
  - reference: PMID:39250501
    reference_title: Central role for cholangiocyte pathobiology in cholestatic
      liver diseases.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Cholangiopathies comprise a spectrum of chronic intrahepatic and
      extrahepatic biliary tract disorders culminating in progressive
      cholestatic liver injury, fibrosis, and often cirrhosis and its sequela.
    explanation: >-
      Supports cirrhosis as an advanced outcome of chronic cholangiopathy.
biochemical:
- name: Cholestatic Enzymes
  presence: Elevated
  context: Blood tests show a cholestatic pattern in clinically apparent 
    disease.
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing 
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Patients with SC present with cholestatic symptoms, including jaundice and
      pruritus, and blood tests reveal elevation of cholestatic enzymes.
    explanation: >-
      Supports elevated cholestatic enzymes as a shared biochemical feature.
- name: Alkaline Phosphatase
  presence: Elevated
  context: Adult cholestatic diagnostic pattern.
- name: Gamma-Glutamyl Transferase
  presence: Elevated
  context: Pediatric and cholestasis-focused diagnostic pattern.
environmental:
- name: Inflammatory bowel disease comorbidity context
  description: >-
    IBD is not modeled in a dedicated comorbidities slot because the current
    Disease schema has no such top-level slot, but the PSC-IBD association is a
    major clinical context for sclerosing cholangitis.
  evidence:
  - reference: DOI:10.1136/gutjnl-2023-330856
    reference_title: Protective function of sclerosing cholangitis on IBD
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      There is a strong clinical association between IBD and primary sclerosing
      cholangitis (PSC), a chronic disease of the liver characterised by
      biliary inflammation that leads to strictures and fibrosis.
    explanation: >-
      Supports IBD as a major clinical association/comorbidity context for PSC
      within the sclerosing cholangitis umbrella.
diagnosis:
- name: Cholangiographic Stricture Pattern
  description: >-
    Diagnosis depends on recognizing intrahepatic and/or extrahepatic bile-duct
    strictures and then distinguishing primary, secondary, IgG4-related, and
    neonatal etiologies using clinical context, serology, histology, and
    exclusion of mimics.
  results: Multifocal or segmental biliary stenosis with evidence of 
    cholestasis.
  evidence:
  - reference: PMID:27625195
    reference_title: "IgG4-related hepatobiliary disease: an overview."
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      These diseases can present with biliary strictures and/or mass lesions,
      making them difficult to differentiate from primary sclerosing
      cholangitis (PSC) or other hepatobiliary malignancies.
    explanation: >-
      This supports biliary strictures as a diagnostic presentation and
      highlights the need to distinguish sclerosing cholangitis subtypes and
      malignancy mimics.
- name: Endoscopic or Magnetic Cholangiography
  description: >-
    MRCP and ERCP are used to document characteristic biliary strictures and
    support subtype-level diagnosis.
  diagnosis_term:
    preferred_term: endoscopic retrograde cholangiopancreatography
    term:
      id: MAXO:0035049
      label: endoscopic retrograde cholangiopancreatography
  evidence:
  - reference: PMID:30205418
    reference_title: IgG4-Related Sclerosing Cholangitis and Primary Sclerosing
      Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Cholangiography, endoscopic or magnetic, is inevitably required for
      making a diagnosis.
    explanation: >-
      Supports cholangiography as required diagnostic imaging for sclerosing
      cholangitis.
treatments:
- name: Etiology-Directed Management
  description: >-
    Treatment depends on the subtype and cause: IgG4-related disease is often
    immunosuppression-responsive, dominant strictures may need endoscopic
    management, secondary forms require treatment of the inciting injury, and
    advanced disease can require liver transplantation.
- name: Liver Transplantation
  description: >-
    Liver transplantation is used for end-stage or otherwise advanced
    sclerosing cholangitis when progressive liver failure or complications
    cannot be controlled.
  treatment_term:
    preferred_term: liver transplantation
    term:
      id: MAXO:0001175
      label: liver transplantation
  target_phenotypes:
  - preferred_term: Cirrhosis
    term:
      id: HP:0001394
      label: Cirrhosis
  evidence:
  - reference: DOI:10.3390/jcm15031149
    reference_title: Primary Sclerosing Cholangitis in 2026
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Most patients eventually require liver transplantation or develop serious
      complications, the most severe being end-stage liver disease and
      cholangiocarcinoma.
    explanation: >-
      Supports liver transplantation as a major advanced-disease treatment
      endpoint in PSC.
- name: ERCP-Based Stricture Management
  description: >-
    ERCP can be used diagnostically and therapeutically in dominant or clinically
    relevant strictures, including dilation or stenting when appropriate.
  treatment_term:
    preferred_term: endoscopic retrograde cholangiopancreatography
    term:
      id: MAXO:0035049
      label: endoscopic retrograde cholangiopancreatography
  target_mechanisms:
  - target: Bile Duct Fibrostenosis
    treatment_effect: MODULATES
    description: Endoscopic therapy mechanically addresses dominant strictures.
  evidence:
  - reference: DOI:10.1007/s00535-025-02265-5
    reference_title: The 2024 diagnostic criteria for primary sclerosing
      cholangitis
    supports: PARTIAL
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      The 2024 diagnostic criteria facilitate the use of magnetic resonance
      cholangiography in addition to endoscopic retrograde cholangiography in
      imaging, and incorporate gamma-glutamyl transferase for evaluating
      cholestasis to diagnose pediatric patients.
    explanation: >-
      Supports ERCP as a core procedure in PSC evaluation; the therapeutic
      dilation/stenting role is retained in the description without a stronger
      abstract-level quote.
- name: norUrsodeoxycholic Acid
  description: >-
    norUDCA is an investigational bile-acid therapy in phase 3 testing for PSC.
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
  target_mechanisms:
  - target: Bile Acid Signaling Dysregulation
    treatment_effect: MODULATES
    description: norUDCA targets bile-acid biology and cholestatic injury.
  evidence:
  - reference: clinicaltrials:NCT03872921
    reference_title: Double-blind, Randomized, Placebo-controlled, Phase III
      Study Comparing norUrsodeoxycholic Acid Capsules With Placebo in the
      Treatment of Primary Sclerosing Cholangitis
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Double-blind, randomized, multi-center, placebo-controlled, comparative,
      phase III trial. The study will be conducted with two treatment groups in
      the form of a parallel group comparison and will serve to compare oral
      treatment with either 1500 mg/d norursodeoxycholic acid capsules or
      placebo capsules for the treatment of Primary Sclerosing Cholangitis.
    explanation: >-
      Supports norUDCA as an investigational PSC pharmacotherapy in a phase 3
      randomized trial.
- name: Fecal Microbiota Transplantation
  description: >-
    FMT is an investigational gut-microbiome-directed intervention for PSC,
    particularly in PSC with concomitant IBD.
  treatment_term:
    preferred_term: fecal microbiota transplantation
    term:
      id: MAXO:0000748
      label: fecal microbiota transplantation
  target_mechanisms:
  - target: Gut-Liver Axis Barrier Disruption and Dysbiosis
    treatment_effect: MODULATES
    description: FMT aims to alter gut microbiota contributing to PSC biology.
  evidence:
  - reference: clinicaltrials:NCT02424175
    reference_title: Fecal Microbiota Transplantation for the Treatment of
      Primary Sclerosing Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      This is an open-label single-arm pilot study to measure the safety,
      microbiological and clinical impacts of Fecal Microbiota Transplantation
      (FMT) in patients with Primary Sclerosing Cholangitis (PSC).
    explanation: >-
      Supports FMT as an investigational microbiome-directed intervention in
      PSC.
clinical_trials:
- name: NCT03872921
  phase: PHASE_III
  description: >-
    Randomized placebo-controlled phase 3 norUDCA trial in primary sclerosing
    cholangitis.
  evidence:
  - reference: clinicaltrials:NCT03872921
    reference_title: Double-blind, Randomized, Placebo-controlled, Phase III
      Study Comparing norUrsodeoxycholic Acid Capsules With Placebo in the
      Treatment of Primary Sclerosing Cholangitis
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Double-blind, randomized, multi-center, placebo-controlled, comparative,
      phase III trial.
    explanation: >-
      Supports this as a phase 3 PSC norUDCA clinical trial.
- name: NCT02424175
  description: >-
    Open-label pilot FMT study in PSC patients, including patients with
    concurrent inflammatory bowel disease.
  evidence:
  - reference: clinicaltrials:NCT02424175
    reference_title: Fecal Microbiota Transplantation for the Treatment of
      Primary Sclerosing Cholangitis.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      This is an open-label single-arm pilot study to measure the safety,
      microbiological and clinical impacts of Fecal Microbiota Transplantation
      (FMT) in patients with Primary Sclerosing Cholangitis (PSC).
    explanation: >-
      Supports this as an FMT pilot study in PSC.
- name: NCT06286709
  phase: PHASE_II
  description: >-
    FARGO randomized phase IIa multicenter placebo-controlled FMT trial in PSC
    with concomitant IBD.
  evidence:
  - reference: clinicaltrials:NCT06286709
    reference_title: "FARGO: A Randomised, Phase IIa, Multi-centre, Placebo-controlled
      Trial of FAecal Microbiota Transplantation in primaRy sclerosinG chOlangitis"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      FARGO is a randomised, phase IIa, multi-centre, placebo-controlled trial
      to compare Faecal Microbiota Transplant (FMT) with placebo in patients
      with primary sclerosing cholangitis (PSC) and concomitant inflammatory
      bowel disease.
    explanation: >-
      Supports this as a phase 2 randomized FMT trial in PSC-IBD.
references:
- reference: DOI:10.5009/gnl18085
  title: IgG4-related sclerosing cholangitis and primary sclerosing cholangitis
  findings: []
- reference: DOI:10.1097/hep.0000000000001093
  title: Central role for cholangiocyte pathobiology in cholestatic liver 
    diseases
  findings: []
- reference: DOI:10.1007/s00261-022-03551-z
  title: 'Secondary sclerosing cholangitis: mimics of primary sclerosing cholangitis'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: 'Secondary sclerosing cholangitis: mimics of primary sclerosing cholangitis'
    supporting_text: 'Secondary sclerosing cholangitis: mimics of primary sclerosing
      cholangitis'
- reference: DOI:10.1007/s00535-025-02265-5
  title: The 2024 diagnostic criteria for primary sclerosing cholangitis
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Primary sclerosing cholangitis (PSC) is an idiopathic chronic 
      cholestatic disease with a poor prognosis.
    supporting_text: Primary sclerosing cholangitis (PSC) is an idiopathic 
      chronic cholestatic disease with a poor prognosis.
    evidence:
    - reference: DOI:10.1007/s00535-025-02265-5
      reference_title: The 2024 diagnostic criteria for primary sclerosing 
        cholangitis
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Primary sclerosing cholangitis (PSC) is an idiopathic chronic 
        cholestatic disease with a poor prognosis.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.1007/s00535-026-02388-3
  title: Distinct phenotype of primary sclerosing cholangitis-associated 
    inflammatory bowel disease
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Primary sclerosing cholangitis (PSC) is frequently accompanied by
      colitis with clinicopathologic features that differ from conventional 
      inflammatory bowel disease (IBD).
    supporting_text: Primary sclerosing cholangitis (PSC) is frequently 
      accompanied by colitis with clinicopathologic features that differ from 
      conventional inflammatory bowel disease (IBD).
    evidence:
    - reference: DOI:10.1007/s00535-026-02388-3
      reference_title: Distinct phenotype of primary sclerosing 
        cholangitis-associated inflammatory bowel disease
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Primary sclerosing cholangitis (PSC) is frequently accompanied by
        colitis with clinicopathologic features that differ from conventional 
        inflammatory bowel disease (IBD).
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.1007/s12072-023-10521-0
  title: 'Hepatobiliary long-term consequences of COVID-19: dramatically increased
    rate of secondary sclerosing cholangitis in critically ill COVID-19 patients'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Increasing evidence suggests that secondary sclerosing 
      cholangitis (SSC), which can lead to cirrhosis or liver failure, may be a 
      hepatobiliary long-term complication of COVID-19.
    supporting_text: Increasing evidence suggests that secondary sclerosing 
      cholangitis (SSC), which can lead to cirrhosis or liver failure, may be a 
      hepatobiliary long-term complication of COVID-19.
    evidence:
    - reference: DOI:10.1007/s12072-023-10521-0
      reference_title: 'Hepatobiliary long-term consequences of COVID-19: dramatically
        increased rate of secondary sclerosing cholangitis in critically ill COVID-19
        patients'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Increasing evidence suggests that secondary sclerosing 
        cholangitis (SSC), which can lead to cirrhosis or liver failure, may be 
        a hepatobiliary long-term complication of COVID-19.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.1016/j.jhepr.2024.101272
  title: 'Primary sclerosing cholangitis–inflammatory bowel disease: Epidemiology,
    mortality, and impact of diagnostic sequence'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: 'Primary sclerosing cholangitis–inflammatory bowel disease: Epidemiology,
      mortality, and impact of diagnostic sequence'
    supporting_text: 'Primary sclerosing cholangitis–inflammatory bowel disease: Epidemiology,
      mortality, and impact of diagnostic sequence'
- reference: DOI:10.1016/j.lanepe.2024.101002
  title: 'Past, current, and future trends in the prevalence of primary sclerosing
    cholangitis and inflammatory bowel disease across England (2015–2027): a nationwide,
    population-based study'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: 'Past, current, and future trends in the prevalence of primary sclerosing
      cholangitis and inflammatory bowel disease across England (2015–2027): a nationwide,
      population-based study'
    supporting_text: 'Past, current, and future trends in the prevalence of primary
      sclerosing cholangitis and inflammatory bowel disease across England (2015–2027):
      a nationwide, population-based study'
- reference: DOI:10.1093/ecco-jcc/jjae096
  title: Inflammatory Bowel Disease Associated with Primary Sclerosing 
    Cholangitis is Associated with an Altered Gut Microbiome and Bile Acid 
    Profile
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Primary sclerosing cholangitis associated with inflammatory bowel
      disease [IBD-PSC] carries significant morbidity compared to IBD without 
      PSC.
    supporting_text: Primary sclerosing cholangitis associated with inflammatory
      bowel disease [IBD-PSC] carries significant morbidity compared to IBD 
      without PSC.
    evidence:
    - reference: DOI:10.1093/ecco-jcc/jjae096
      reference_title: Inflammatory Bowel Disease Associated with Primary 
        Sclerosing Cholangitis is Associated with an Altered Gut Microbiome and 
        Bile Acid Profile
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Primary sclerosing cholangitis associated with inflammatory bowel
        disease [IBD-PSC] carries significant morbidity compared to IBD without 
        PSC.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.1111/j.1478-3231.2011.02484.x
  title: 'Validity of administrative data for the diagnosis of primary sclerosing
    cholangitis: a population-based study'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: 'Validity of administrative data for the diagnosis of primary sclerosing
      cholangitis: a population-based study'
    supporting_text: 'Validity of administrative data for the diagnosis of primary
      sclerosing cholangitis: a population-based study'
- reference: DOI:10.1136/gutjnl-2023-330856
  title: Protective function of sclerosing cholangitis on IBD
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: There is a strong clinical association between IBD and primary 
      sclerosing cholangitis (PSC), a chronic disease of the liver characterised
      by biliary inflammation that leads to strictures and fibrosis.
    supporting_text: There is a strong clinical association between IBD and 
      primary sclerosing cholangitis (PSC), a chronic disease of the liver 
      characterised by biliary inflammation that leads to strictures and 
      fibrosis.
    evidence:
    - reference: DOI:10.1136/gutjnl-2023-330856
      reference_title: Protective function of sclerosing cholangitis on IBD
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: There is a strong clinical association between IBD and primary 
        sclerosing cholangitis (PSC), a chronic disease of the liver 
        characterised by biliary inflammation that leads to strictures and 
        fibrosis.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.1186/s12876-024-03162-6
  title: 'Investigating the shared genetic architecture between primary sclerosing
    cholangitis and inflammatory bowel diseases: a Mendelian randomization study'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Several studies have found that primary sclerosing cholangitis 
      (PSC) and inflammatory bowel disease (IBD) are closely associated.
    supporting_text: Several studies have found that primary sclerosing 
      cholangitis (PSC) and inflammatory bowel disease (IBD) are closely 
      associated.
    evidence:
    - reference: DOI:10.1186/s12876-024-03162-6
      reference_title: 'Investigating the shared genetic architecture between primary
        sclerosing cholangitis and inflammatory bowel diseases: a Mendelian randomization
        study'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Several studies have found that primary sclerosing cholangitis 
        (PSC) and inflammatory bowel disease (IBD) are closely associated.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.15403/jgld-5476
  title: 'Endoscopic Characterization and Outcome of COVID-19 Patients with Secondary
    Sclerosing Cholangitis: A Case Series of a Tertiary Center'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: 'Endoscopic Characterization and Outcome of COVID-19 Patients with
      Secondary Sclerosing Cholangitis: A Case Series of a Tertiary Center'
    supporting_text: During the coronavirus disease 2019 (COVID-19) pandemic a
      significant proportion of patients with severe acute respiratory
      distress syndrome (ARDS) due to COVID-19 infection developed secondary 
      sclerosing cholangitis (SSC) as a hepatobiliary complication.
    evidence:
    - reference: DOI:10.15403/jgld-5476
      reference_title: 'Endoscopic Characterization and Outcome of COVID-19 Patients
        with Secondary Sclerosing Cholangitis: A Case Series of a Tertiary Center'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: During the coronavirus disease 2019 (COVID-19) pandemic a
        significant proportion of patients with severe acute respiratory 
        distress syndrome (ARDS) due to COVID-19 infection developed secondary 
        sclerosing cholangitis (SSC) as a hepatobiliary complication.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.2147/hmer.s384220
  title: 'Secondary Sclerosing Cholangitis After SARS-CoV2: ICU Ketamine Use or Virus-Specific
    Biliary Tropism and Injury in the Context of Biliary Ischemia in Critically Ill
    Patients?'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: 'Secondary Sclerosing Cholangitis After SARS-CoV2: ICU Ketamine Use
      or Virus-Specific Biliary Tropism and Injury in the Context of Biliary Ischemia
      in Critically Ill Patients?'
    supporting_text: 'Secondary Sclerosing Cholangitis After SARS-CoV2: ICU Ketamine
      Use or Virus-Specific Biliary Tropism and Injury in the Context of Biliary Ischemia
      in Critically Ill Patients?'
- reference: DOI:10.3390/cancers17132165
  title: Navigating Neoplasm Risk in Inflammatory Bowel Disease and Primary 
    Sclerosing Cholangitis
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Navigating Neoplasm Risk in Inflammatory Bowel Disease and 
      Primary Sclerosing Cholangitis
    supporting_text: (1) Background and Patients with inflammatory bowel disease
      (IBD) and primary sclerosing cholangitis (PSC) face a significantly 
      increased risk of malignancies, including a 10-fold higher risk for 
      colorectal cancer (CRC) and a lifetime risk for cholangiocarcinoma (CCA) 
      exceeding 20%.
    evidence:
    - reference: DOI:10.3390/cancers17132165
      reference_title: Navigating Neoplasm Risk in Inflammatory Bowel Disease 
        and Primary Sclerosing Cholangitis
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: (1) Background and Patients with inflammatory bowel disease (IBD)
        and primary sclerosing cholangitis (PSC) face a significantly increased 
        risk of malignancies, including a 10-fold higher risk for colorectal 
        cancer (CRC) and a lifetime risk for cholangiocarcinoma (CCA) exceeding 
        20%.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.3390/cells13191650
  title: 'Bile Acids-Based Therapies for Primary Sclerosing Cholangitis: Current Landscape
    and Future Developments'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Primary sclerosing cholangitis (PSC) is a rare, chronic liver 
      disease with no approved therapies.
    supporting_text: Primary sclerosing cholangitis (PSC) is a rare, chronic 
      liver disease with no approved therapies.
    evidence:
    - reference: DOI:10.3390/cells13191650
      reference_title: 'Bile Acids-Based Therapies for Primary Sclerosing Cholangitis:
        Current Landscape and Future Developments'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Primary sclerosing cholangitis (PSC) is a rare, chronic liver 
        disease with no approved therapies.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.3390/jcm14217817
  title: 'Gut–Liver Axis, Microbiota, Bile Acids, and Immune Response in Pathogenesis
    of Primary Sclerosing Cholangitis: An Overview'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Primary sclerosing cholangitis (PSC) is a chronic, 
      immune-mediated cholestatic liver disease characterized by progressive 
      bile duct inflammation and fibrosis.
    supporting_text: Primary sclerosing cholangitis (PSC) is a chronic, 
      immune-mediated cholestatic liver disease characterized by progressive 
      bile duct inflammation and fibrosis.
    evidence:
    - reference: DOI:10.3390/jcm14217817
      reference_title: 'Gut–Liver Axis, Microbiota, Bile Acids, and Immune Response
        in Pathogenesis of Primary Sclerosing Cholangitis: An Overview'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Primary sclerosing cholangitis (PSC) is a chronic, 
        immune-mediated cholestatic liver disease characterized by progressive 
        bile duct inflammation and fibrosis.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.3390/jcm15031149
  title: 'Primary Sclerosing Cholangitis: Diagnosis, Management, and Clinical Challenges'
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Primary sclerosing cholangitis is a rare, chronic, inflammatory 
      disease of the biliary tree that leads to progressive ductal obliteration,
      hepatic dysfunction, and ultimately liver cirrhosis.
    supporting_text: Primary sclerosing cholangitis is a rare, chronic, 
      inflammatory disease of the biliary tree that leads to progressive ductal 
      obliteration, hepatic dysfunction, and ultimately liver cirrhosis.
    evidence:
    - reference: DOI:10.3390/jcm15031149
      reference_title: 'Primary Sclerosing Cholangitis: Diagnosis, Management, and
        Clinical Challenges'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Primary sclerosing cholangitis is a rare, chronic, inflammatory 
        disease of the biliary tree that leads to progressive ductal 
        obliteration, hepatic dysfunction, and ultimately liver cirrhosis.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
- reference: DOI:10.4103/eus-d-22-00208
  title: Secondary sclerosing cholangitis and IgG4-sclerosing cholangitis – A 
    review of cholangiographic and ultrasound imaging
  found_in:
  - Sclerosing_Cholangitis-deep-research-falcon.md
  findings:
  - statement: Sclerosing cholangitis (SC) represents a spectrum of chronic 
      progressive cholestatic diseases of the intrahepatic and/or extrahepatic 
      biliary system characterized by patchy inflammation, fibrosis, and 
      stricturing.
    supporting_text: Sclerosing cholangitis (SC) represents a spectrum of 
      chronic progressive cholestatic diseases of the intrahepatic and/or 
      extrahepatic biliary system characterized by patchy inflammation, 
      fibrosis, and stricturing.
    evidence:
    - reference: DOI:10.4103/eus-d-22-00208
      reference_title: Secondary sclerosing cholangitis and IgG4-sclerosing 
        cholangitis – A review of cholangiographic and ultrasound imaging
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Sclerosing cholangitis (SC) represents a spectrum of chronic 
        progressive cholestatic diseases of the intrahepatic and/or extrahepatic
        biliary system characterized by patchy inflammation, fibrosis, and 
        stricturing.
      explanation: Deep research cited this publication as relevant literature 
        for Sclerosing Cholangitis.
📚

References & Deep Research

References

19
IgG4-related sclerosing cholangitis and primary sclerosing cholangitis
No top-level findings curated for this source.
Central role for cholangiocyte pathobiology in cholestatic liver diseases
No top-level findings curated for this source.
Secondary sclerosing cholangitis: mimics of primary sclerosing cholangitis
1 finding
Secondary sclerosing cholangitis: mimics of primary sclerosing cholangitis
"Secondary sclerosing cholangitis: mimics of primary sclerosing cholangitis"
The 2024 diagnostic criteria for primary sclerosing cholangitis
1 finding
Primary sclerosing cholangitis (PSC) is an idiopathic chronic cholestatic disease with a poor prognosis.
"Primary sclerosing cholangitis (PSC) is an idiopathic chronic cholestatic disease with a poor prognosis."
Show evidence (1 reference)
DOI:10.1007/s00535-025-02265-5 SUPPORT Human Clinical
"Primary sclerosing cholangitis (PSC) is an idiopathic chronic cholestatic disease with a poor prognosis."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Distinct phenotype of primary sclerosing cholangitis-associated inflammatory bowel disease
1 finding
Primary sclerosing cholangitis (PSC) is frequently accompanied by colitis with clinicopathologic features that differ from conventional inflammatory bowel disease (IBD).
"Primary sclerosing cholangitis (PSC) is frequently accompanied by colitis with clinicopathologic features that differ from conventional inflammatory bowel disease (IBD)."
Show evidence (1 reference)
DOI:10.1007/s00535-026-02388-3 SUPPORT Human Clinical
"Primary sclerosing cholangitis (PSC) is frequently accompanied by colitis with clinicopathologic features that differ from conventional inflammatory bowel disease (IBD)."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Hepatobiliary long-term consequences of COVID-19: dramatically increased rate of secondary sclerosing cholangitis in critically ill COVID-19 patients
1 finding
Increasing evidence suggests that secondary sclerosing cholangitis (SSC), which can lead to cirrhosis or liver failure, may be a hepatobiliary long-term complication of COVID-19.
"Increasing evidence suggests that secondary sclerosing cholangitis (SSC), which can lead to cirrhosis or liver failure, may be a hepatobiliary long-term complication of COVID-19."
Show evidence (1 reference)
DOI:10.1007/s12072-023-10521-0 SUPPORT Human Clinical
"Increasing evidence suggests that secondary sclerosing cholangitis (SSC), which can lead to cirrhosis or liver failure, may be a hepatobiliary long-term complication of COVID-19."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Primary sclerosing cholangitis–inflammatory bowel disease: Epidemiology, mortality, and impact of diagnostic sequence
1 finding
Primary sclerosing cholangitis–inflammatory bowel disease: Epidemiology, mortality, and impact of diagnostic sequence
"Primary sclerosing cholangitis–inflammatory bowel disease: Epidemiology, mortality, and impact of diagnostic sequence"
Past, current, and future trends in the prevalence of primary sclerosing cholangitis and inflammatory bowel disease across England (2015–2027): a nationwide, population-based study
1 finding
Past, current, and future trends in the prevalence of primary sclerosing cholangitis and inflammatory bowel disease across England (2015–2027): a nationwide, population-based study
"Past, current, and future trends in the prevalence of primary sclerosing cholangitis and inflammatory bowel disease across England (2015–2027): a nationwide, population-based study"
Inflammatory Bowel Disease Associated with Primary Sclerosing Cholangitis is Associated with an Altered Gut Microbiome and Bile Acid Profile
1 finding
Primary sclerosing cholangitis associated with inflammatory bowel disease [IBD-PSC] carries significant morbidity compared to IBD without PSC.
"Primary sclerosing cholangitis associated with inflammatory bowel disease [IBD-PSC] carries significant morbidity compared to IBD without PSC."
Show evidence (1 reference)
DOI:10.1093/ecco-jcc/jjae096 SUPPORT Human Clinical
"Primary sclerosing cholangitis associated with inflammatory bowel disease [IBD-PSC] carries significant morbidity compared to IBD without PSC."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Validity of administrative data for the diagnosis of primary sclerosing cholangitis: a population-based study
1 finding
Validity of administrative data for the diagnosis of primary sclerosing cholangitis: a population-based study
"Validity of administrative data for the diagnosis of primary sclerosing cholangitis: a population-based study"
Protective function of sclerosing cholangitis on IBD
1 finding
There is a strong clinical association between IBD and primary sclerosing cholangitis (PSC), a chronic disease of the liver characterised by biliary inflammation that leads to strictures and fibrosis.
"There is a strong clinical association between IBD and primary sclerosing cholangitis (PSC), a chronic disease of the liver characterised by biliary inflammation that leads to strictures and fibrosis."
Show evidence (1 reference)
DOI:10.1136/gutjnl-2023-330856 SUPPORT Human Clinical
"There is a strong clinical association between IBD and primary sclerosing cholangitis (PSC), a chronic disease of the liver characterised by biliary inflammation that leads to strictures and fibrosis."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Investigating the shared genetic architecture between primary sclerosing cholangitis and inflammatory bowel diseases: a Mendelian randomization study
1 finding
Several studies have found that primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) are closely associated.
"Several studies have found that primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) are closely associated."
Show evidence (1 reference)
DOI:10.1186/s12876-024-03162-6 SUPPORT Human Clinical
"Several studies have found that primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) are closely associated."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Endoscopic Characterization and Outcome of COVID-19 Patients with Secondary Sclerosing Cholangitis: A Case Series of a Tertiary Center
1 finding
Endoscopic Characterization and Outcome of COVID-19 Patients with Secondary Sclerosing Cholangitis: A Case Series of a Tertiary Center
"During the coronavirus disease 2019 (COVID-19) pandemic a significant proportion of patients with severe acute respiratory distress syndrome (ARDS) due to COVID-19 infection developed secondary sclerosing cholangitis (SSC) as a hepatobiliary complication."
Show evidence (1 reference)
DOI:10.15403/jgld-5476 SUPPORT Human Clinical
"During the coronavirus disease 2019 (COVID-19) pandemic a significant proportion of patients with severe acute respiratory distress syndrome (ARDS) due to COVID-19 infection developed secondary sclerosing cholangitis (SSC) as a hepatobiliary complication."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Secondary Sclerosing Cholangitis After SARS-CoV2: ICU Ketamine Use or Virus-Specific Biliary Tropism and Injury in the Context of Biliary Ischemia in Critically Ill Patients?
1 finding
Secondary Sclerosing Cholangitis After SARS-CoV2: ICU Ketamine Use or Virus-Specific Biliary Tropism and Injury in the Context of Biliary Ischemia in Critically Ill Patients?
"Secondary Sclerosing Cholangitis After SARS-CoV2: ICU Ketamine Use or Virus-Specific Biliary Tropism and Injury in the Context of Biliary Ischemia in Critically Ill Patients?"
Navigating Neoplasm Risk in Inflammatory Bowel Disease and Primary Sclerosing Cholangitis
1 finding
Navigating Neoplasm Risk in Inflammatory Bowel Disease and Primary Sclerosing Cholangitis
"(1) Background and Patients with inflammatory bowel disease (IBD) and primary sclerosing cholangitis (PSC) face a significantly increased risk of malignancies, including a 10-fold higher risk for colorectal cancer (CRC) and a lifetime risk for cholangiocarcinoma (CCA) exceeding 20%."
Show evidence (1 reference)
DOI:10.3390/cancers17132165 SUPPORT Human Clinical
"(1) Background and Patients with inflammatory bowel disease (IBD) and primary sclerosing cholangitis (PSC) face a significantly increased risk of malignancies, including a 10-fold higher risk for colorectal cancer (CRC) and a lifetime risk for cholangiocarcinoma (CCA) exceeding 20%."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Bile Acids-Based Therapies for Primary Sclerosing Cholangitis: Current Landscape and Future Developments
1 finding
Primary sclerosing cholangitis (PSC) is a rare, chronic liver disease with no approved therapies.
"Primary sclerosing cholangitis (PSC) is a rare, chronic liver disease with no approved therapies."
Show evidence (1 reference)
DOI:10.3390/cells13191650 SUPPORT Human Clinical
"Primary sclerosing cholangitis (PSC) is a rare, chronic liver disease with no approved therapies."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Gut–Liver Axis, Microbiota, Bile Acids, and Immune Response in Pathogenesis of Primary Sclerosing Cholangitis: An Overview
1 finding
Primary sclerosing cholangitis (PSC) is a chronic, immune-mediated cholestatic liver disease characterized by progressive bile duct inflammation and fibrosis.
"Primary sclerosing cholangitis (PSC) is a chronic, immune-mediated cholestatic liver disease characterized by progressive bile duct inflammation and fibrosis."
Show evidence (1 reference)
DOI:10.3390/jcm14217817 SUPPORT Other
"Primary sclerosing cholangitis (PSC) is a chronic, immune-mediated cholestatic liver disease characterized by progressive bile duct inflammation and fibrosis."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Primary Sclerosing Cholangitis: Diagnosis, Management, and Clinical Challenges
1 finding
Primary sclerosing cholangitis is a rare, chronic, inflammatory disease of the biliary tree that leads to progressive ductal obliteration, hepatic dysfunction, and ultimately liver cirrhosis.
"Primary sclerosing cholangitis is a rare, chronic, inflammatory disease of the biliary tree that leads to progressive ductal obliteration, hepatic dysfunction, and ultimately liver cirrhosis."
Show evidence (1 reference)
DOI:10.3390/jcm15031149 SUPPORT Human Clinical
"Primary sclerosing cholangitis is a rare, chronic, inflammatory disease of the biliary tree that leads to progressive ductal obliteration, hepatic dysfunction, and ultimately liver cirrhosis."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.
Secondary sclerosing cholangitis and IgG4-sclerosing cholangitis – A review of cholangiographic and ultrasound imaging
1 finding
Sclerosing cholangitis (SC) represents a spectrum of chronic progressive cholestatic diseases of the intrahepatic and/or extrahepatic biliary system characterized by patchy inflammation, fibrosis, and stricturing.
"Sclerosing cholangitis (SC) represents a spectrum of chronic progressive cholestatic diseases of the intrahepatic and/or extrahepatic biliary system characterized by patchy inflammation, fibrosis, and stricturing."
Show evidence (1 reference)
"Sclerosing cholangitis (SC) represents a spectrum of chronic progressive cholestatic diseases of the intrahepatic and/or extrahepatic biliary system characterized by patchy inflammation, fibrosis, and stricturing."
Deep research cited this publication as relevant literature for Sclerosing Cholangitis.

Deep Research

1
Falcon
Disease Characteristics Research Template
Edison Scientific Literature 53 citations 2026-05-07T12:26:07.957198

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: Sclerosing Cholangitis
  • MONDO ID: (if available)
  • Category: Complex

Research Objectives

Please provide a comprehensive research report on Sclerosing Cholangitis 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

Comprehensive Disease Characteristics Report: Sclerosing Cholangitis (focus on Primary Sclerosing Cholangitis, PSC)

Executive summary

Sclerosing cholangitis is a spectrum of chronic progressive cholestatic biliary diseases characterized by patchy bile-duct inflammation, fibrosis, and stricturing; it is classified as primary (PSC; no identifiable cause) or secondary (SSC; attributable to a specific insult such as ischemia, infection, toxins/drugs, or immune-mediated conditions including IgG4-related disease). (ludwig2023secondarysclerosingcholangitis pages 1-3, moller2023secondarysclerosingcholangitis pages 1-2)

PSC is strongly linked to inflammatory bowel disease (IBD) (commonly ulcerative colitis) and carries substantial risks of cirrhosis, need for liver transplantation, and hepatobiliary/colorectal malignancies. (crothers2024pastcurrentand pages 1-2, pitoni2025navigatingneoplasmrisk pages 1-2)

In 2023–2024, major advances include: (i) new population-based epidemiology showing increasing PSC-IBD prevalence with projections to 2027 in England; (ii) microbiome + bile-acid multi-omic profiling that quantifies functional changes in secondary bile acid metabolism in PSC-IBD; and (iii) expanding clinical trial portfolios emphasizing ALP-based endpoints, noninvasive fibrosis measures, and patient-reported outcomes (PROs). (crothers2024pastcurrentand pages 1-2, leibovitzh2024inflammatoryboweldisease pages 1-2, NCT03872921 chunk 1)


1. Disease information

1.1 Overview and definitions

  • Sclerosing cholangitis (SC): chronic cholestatic disease with stricturing, “beading,” and obliterative fibrosis affecting intrahepatic and/or extrahepatic bile ducts. (ludwig2023secondarysclerosingcholangitis pages 1-3, moller2023secondarysclerosingcholangitis pages 1-2)
  • Primary sclerosing cholangitis (PSC): SC in which no underlying etiology is identified; diagnosis combines a cholestatic lab pattern with characteristic cholangiographic findings on MRCP/ERCP in the absence of another cause. (ludwig2023secondarysclerosingcholangitis pages 1-3)
  • Secondary sclerosing cholangitis (SSC): SC with an identifiable cause (infectious, ischemic, toxic/drug-induced, immunologic—including IgG4-related disease—congenital, etc.). SSC can mimic PSC but often has worse prognosis; end-stage SSC leading to biliary cirrhosis is treatable only by liver transplantation. (ludwig2023secondarysclerosingcholangitis pages 3-4, ludwig2023secondarysclerosingcholangitis pages 1-3)
  • IgG4-related sclerosing cholangitis (IgG4-SC): immune-mediated biliary manifestation of IgG4-related disease; typically steroid responsive; often associated with autoimmune pancreatitis. (ludwig2023secondarysclerosingcholangitis pages 7-9, moller2023secondarysclerosingcholangitis pages 10-11)

1.2 Key identifiers (limited to retrieved evidence)

Entity/scope Common synonyms MeSH ID/term MONDO/EFO Key distinguishing feature
Sclerosing cholangitis (umbrella entity) SC; cholangitis, sclerosing D015209 / Cholangitis, Sclerosing EFO_0004268 (sclerosing cholangitis) Chronic cholestatic biliary disease spectrum with inflammation, fibrosis, stricturing, and beading of intrahepatic and/or extrahepatic bile ducts; includes primary and secondary forms. ICD codes: not extracted from the provided sources. Identifier note: limited to retrieved evidence. (ludwig2023secondarysclerosingcholangitis pages 1-3, moller2023secondarysclerosingcholangitis pages 1-2, OpenTargets Search: primary sclerosing cholangitis, NCT02424175 chunk 2)
Primary sclerosing cholangitis (PSC) PSC; large-duct PSC; small-duct PSC D015209 / Cholangitis, Sclerosing No PSC-specific MONDO/EFO identifier extracted from the provided sources; umbrella mapping available as EFO_0004268 Diagnosed when characteristic cholangiographic multifocal short strictures/beading are present without another identifiable cause; small-duct PSC has normal cholangiography but PSC-consistent histology. Strong association with IBD. ICD codes: not extracted from the provided sources. Identifier note: limited to retrieved evidence. (naitoh2025the2024diagnostic pages 4-5, ludwig2023secondarysclerosingcholangitis pages 1-3, giorgio2026primarysclerosingcholangitis pages 2-4, naitoh2025the2024diagnostic media a72fe8f4)
Secondary sclerosing cholangitis (SSC) SSC; ischemic cholangiopathy; SSC-CIP; COVID-19 SSC / SSC-COVID D015209 / Cholangitis, Sclerosing No SSC-specific MONDO/EFO identifier extracted from the provided sources; umbrella mapping available as EFO_0004268 PSC mimic with an identifiable cause such as ischemic, infectious, toxic/drug-induced, immunologic, congenital, or critical-illness-related injury; often worse prognosis, with biliary casts common in SSC-CIP/COVID-19 SSC. ICD codes: not extracted from the provided sources. Identifier note: limited to retrieved evidence. (ludwig2023secondarysclerosingcholangitis pages 3-4, ludwig2023secondarysclerosingcholangitis pages 7-9, hofstetter2024endoscopiccharacterizationand pages 6-7, leonhardt2023hepatobiliarylongtermconsequences pages 1-2)
IgG4-related sclerosing cholangitis (IgG4-SC) IgG4-SC; IgG4-related SC; IgG4-related cholangitis D015209 / Cholangitis, Sclerosing No IgG4-SC-specific MONDO/EFO identifier extracted from the provided sources Immune-mediated biliary manifestation of IgG4-related disease; typically long-segment continuous extrahepatic strictures with bile duct wall thickening, elevated serum IgG4 in many patients, frequent autoimmune pancreatitis overlap, and marked corticosteroid responsiveness. ICD codes: not extracted from the provided sources. Identifier note: limited to retrieved evidence. (ludwig2023secondarysclerosingcholangitis pages 7-9, moller2023secondarysclerosingcholangitis pages 8-10, moller2023secondarysclerosingcholangitis pages 10-11)
Hepatobiliary malignancy complication relevant to PSC surveillance Cholangiocarcinoma; adenocarcinoma of gallbladder and extrahepatic biliary tract Not extracted from the provided sources MONDO_0018536 (adenocarcinoma of gallbladder and extrahepatic biliary tract) Included here because malignancy surveillance is central in PSC/PSC-IBD; this is a complication/comorbidity rather than a synonym of sclerosing cholangitis. Identifier note: limited to retrieved evidence. (giorgio2026primarysclerosingcholangitis pages 7-9, OpenTargets Search: primary sclerosing cholangitis,secondary sclerosing cholangitis)

Table: This table summarizes the identifiers and common names available in the retrieved evidence for the sclerosing cholangitis disease family, emphasizing PSC, SSC, and IgG4-SC. It is useful for knowledge-base normalization while explicitly flagging where ICD or subtype-specific ontology identifiers were not available from the provided sources.

Important limitation: This tool-based review did not retrieve PSC-specific MONDO/Orphanet/OMIM identifiers. The OpenTargets/ontology mapping available in retrieved evidence covers the umbrella term “sclerosing cholangitis” (EFO_0004268) rather than PSC subtype-specific ontologies. (OpenTargets Search: primary sclerosing cholangitis)

1.3 ICD coding notes (administrative data pitfalls)

PSC has historically lacked a distinct ICD code and is frequently coded under ICD-10 K83.0 (“cholangitis”), which also includes more common acute entities (e.g., ascending cholangitis), lowering specificity for true PSC ascertainment. (molodecky2011validityofadministrative pages 1-2)

In ICD-10-CA (Canadian modification), PSC and SSC appear as subcodes under K83.0: K83.00 primary sclerosing cholangitis and K83.01 secondary sclerosing cholangitis, alongside K83.02 ascending cholangitis. (molodecky2011validityofadministrative pages 7-8)

1.4 Source type

Evidence in this report is predominantly aggregated disease-level research: population-based registries (England, Ontario), prospective registries, clinical series, and interventional trial registries; individual-patient evidence is present mainly as clinical case series (e.g., COVID-19 SSC) and pilot trials. (crothers2024pastcurrentand pages 1-2, leung2025primarysclerosingcholangitis–inflammatory pages 1-2, hofstetter2024endoscopiccharacterizationand pages 1-2)


2. Etiology

2.1 Disease causal factors (current understanding)

PSC is best supported as a complex, immune-mediated, polygenic disease in which genetic susceptibility (strong HLA signal plus many non-HLA loci) interacts with gut–liver axis biology (microbiome, bile acids, mucosal immunity) to drive chronic cholangiocyte injury and periductal fibrosis. (fiorucci2024bileacidsbasedtherapies pages 2-4, okada2026distinctphenotypeof pages 5-7)

SSC is etiologically heterogeneous and arises from identifiable insults (e.g., ischemic cholangiopathy/critical illness, infection, toxins/drugs, immunologic disorders). (ludwig2023secondarysclerosingcholangitis pages 7-9, moller2023secondarysclerosingcholangitis pages 1-2)

2.2 Risk factors

Genetic risk factors (susceptibility)

  • A major PSC HLA risk haplotype reported in recent synthesis is HLA-DRB113:01-DQA101:03-DQB1*06:03. (pitoni2025navigatingneoplasmrisk pages 5-7)
  • PSC shows strong HLA association and multiple GWAS non-HLA loci in immune regulation and bile-acid/barrier pathways; examples cataloged in a 2024 therapy/pathogenesis review include IL2/IL21/IL2RA, CD28, CTLA4, BACH2, SH2B3, NFKB1, CCL20, GPR35, among others. (fiorucci2024bileacidsbasedtherapies pages 2-4)
  • Mendelian randomization using GWAS instruments supports a causal association from genetically predicted PSC to ulcerative colitis risk (but not Crohn’s disease), with shared SNPs reported (rs3184504, rs9858213, rs725613, rs10909839, rs4147359). (dong2024investigatingtheshared pages 1-3)

Authoritative target-disease association resources (OpenTargets) also prioritize immune-related genes including IL2RA, SH2B3, BACH2, IRF5, IL10 for “sclerosing cholangitis,” consistent with immune genetic architecture. (OpenTargets Search: primary sclerosing cholangitis)

Environmental/clinical risk factors

  • PSC is most commonly associated with IBD in Western cohorts (≈60–70% reported in several summaries), and this comorbidity shapes phenotype and cancer risk. (okada2026distinctphenotypeof pages 1-2, pitoni2025navigatingneoplasmrisk pages 1-2)
  • For SSC in critically ill COVID-19 patients (SSC-CIP/COVID-SSC), risk factors preceding onset include systemic hypoxia, multi-organ failure severity (SOFA), high fibrinogen, and ketamine exposure; multivariate analysis identified fibrinogen and LDH as independent risk factors. (leonhardt2023hepatobiliarylongtermconsequences pages 1-2)

2.3 Protective factors

Robust, generalizable protective factors for PSC are not established. However, mechanistic and translational evidence suggests microbiome-driven induction of regulatory pathways may modulate gut inflammation in PSC-IBD contexts; in experimental models, sclerosing cholangitis altered microbiota and increased Foxp3+ Treg expansion with attenuation of colitis. (bedke2024protectivefunctionof pages 1-2)

2.4 Gene–environment and gene–microbiome interactions

A contemporary synthesis links genetic susceptibility, bile-acid dysregulation, and microbiome perturbations: PSC-IBD patients show dysfunctional bile-acid metabolism and altered microbial conversion of secondary bile acids, and lymphocyte trafficking pathways (e.g., α4β7/MAdCAM-1) integrate gut-derived antigenic stimulation with hepatic biliary inflammation. (pitoni2025navigatingneoplasmrisk pages 5-7, fiorucci2024bileacidsbasedtherapies pages 2-4)


3. Phenotypes

3.1 PSC phenotype spectrum (human clinical)

Symptoms/signs (typical, variable; adult-onset common) * Common cholestatic symptom cluster: abdominal pain, pruritus, and fatigue reported in ~three-quarters of patients in a recent clinical review; fever with these suggests acute bacterial cholangitis. (giorgio2026primarysclerosingcholangitis pages 2-4) * Depressive-type symptoms reported in ~one-quarter of patients in the same review. (giorgio2026primarysclerosingcholangitis pages 2-4)

Laboratory abnormalities * Typical cholestatic pattern: elevated ALP and GGT; bilirubin elevated in ~28–40% (rising with progression), but ~25% may have normal liver tests. (giorgio2026primarysclerosingcholangitis pages 2-4)

Imaging features * Hallmark cholangiography findings: multifocal beading/strictures with bile duct wall thickening/enhancement; peripheral pruning in chronic disease. (ludwig2023secondarysclerosingcholangitis pages 1-3)

Dominant/clinically relevant strictures * Dominant stricture definitions incorporate radiologic stenosis and/or biochemical and symptom criteria; ERCP-based criteria may include difficulty passing >5 Fr catheter, and improvement (~20% ALP/bilirubin at 2–4 weeks) after dilation/stenting is used as supportive evidence. (giorgio2026primarysclerosingcholangitis pages 2-4)

3.2 PSC-IBD phenotype (intestinal)

PSC-associated IBD often has a distinct phenotype: extensive colitis with right-sided predominance, rectal sparing, and backwash ileitis; disease may be clinically mild/asymptomatic despite extensive involvement, but neoplasia risk is high, motivating early intensive surveillance. (okada2026distinctphenotypeof pages 1-2)

3.3 SSC-CIP / COVID-19 SSC phenotype

COVID-19 SSC and SSC-CIP often present with cholestatic enzymes and characteristic cholangiographic findings including biliary casts and intrahepatic duct destruction/rarefaction. In one tertiary center case series, all ERCPs revealed biliary casts, with severe intrahepatic duct rarefication in 9/17. (hofstetter2024endoscopiccharacterizationand pages 1-2)

3.4 HPO term suggestions (non-exhaustive)

(These are ontology suggestions; phenotype-to-HPO mappings were not explicitly provided in retrieved sources.) * Pruritus HP:0000989 * Fatigue HP:0012378 * Abdominal pain HP:0002027 * Cholestasis HP:0001396 * Elevated alkaline phosphatase HP:0003155 * Elevated gamma-glutamyltransferase HP:0003285 * Hyperbilirubinemia HP:0002904 * Cholangitis HP:0006565 * Biliary strictures HP:0031377 (term may vary by HPO version) * Liver fibrosis HP:0001395 * Cirrhosis HP:0001394


4. Genetic / molecular information

4.1 Causal genes vs susceptibility genes

PSC is typically not monogenic; current evidence supports polygenic susceptibility dominated by HLA associations and multiple immune-regulatory loci rather than single causal variants. (fiorucci2024bileacidsbasedtherapies pages 2-4)

4.2 Susceptibility loci and functional themes

Susceptibility loci and associated pathways cluster around: T-cell activation/co-stimulation (e.g., CD28/CTLA4 axis), cytokine signaling (IL2RA), innate immune regulation (NFKB1), and gut barrier/bile-acid signaling (e.g., GPBAR1/TGR5, GPR35). (fiorucci2024bileacidsbasedtherapies pages 2-4)

4.3 Variant classification and allele frequencies

ClinVar/gnomAD-level variant cataloging (ACMG/AMP classification, allele frequencies) was not available in retrieved sources for PSC; therefore specific pathogenic variant nomenclature and population frequencies cannot be reliably populated from the current evidence set.

4.4 Epigenetics

Epigenetic mechanisms are implicated in reviews of PSC pathogenesis, but explicit methylation/histone datasets were not extracted in this tool run.


5. Environmental information

5.1 Infectious agents / triggers

In SSC-CIP associated with severe COVID-19, mechanisms considered include direct cholangiocyte injury (ACE2 expression in cholangiocytes is discussed in reviews) plus ischemic and microthrombotic injury; causality of direct viral damage versus critical-illness-associated ischemia remains debated. (bartoli2023secondarysclerosingcholangitis pages 1-2, leonhardt2023hepatobiliarylongtermconsequences pages 12-13)

5.2 Lifestyle factors

No consistent lifestyle risk/protective factors for PSC were extracted in retrieved sources.


6. Mechanism / pathophysiology

6.1 Causal chain (PSC; current model)

A convergent model supported by recent authoritative reviews describes PSC as a gut–liver axis disorder: 1) Barrier dysfunction and dysbiosis allow microbial products/metabolites to reach portal circulation (leaky gut). (fousekis2025gut–liveraxismicrobiota pages 2-4) 2) Innate immune activation in the liver (Kupffer cells, sinusoidal endothelium, cholangiocytes) triggers inflammatory pathways including NF-κB and inflammasome signaling with pro-inflammatory cytokine production (e.g., IL-6, IL-1β, TNF-α). (fiorucci2024bileacidsbasedtherapies pages 2-4, fousekis2025gut–liveraxismicrobiota pages 2-4) 3) Adaptive immune recruitment and trafficking: mucosal homing pathways (MAdCAM-1/α4β7, CCR9/CCL25, VAP-1) misdirect gut-primed lymphocytes to the liver and biliary tree, sustaining antigen-driven cholangiocyte injury. (fiorucci2024bileacidsbasedtherapies pages 2-4, fousekis2025gut–liveraxismicrobiota pages 10-11) 4) Cholangiocyte activation and fibrosis: injured cholangiocytes produce pro-inflammatory and pro-fibrotic mediators (TNFα, IL-6, MCP-1, TGFβ), activating hepatic stellate cells/portal fibroblasts and driving periductal fibrosis and ductular reaction. (fiorucci2024bileacidsbasedtherapies pages 2-4)

6.2 Bile acid signaling and receptor biology

PSC shows altered bile-acid profiles (elevated serum primary/conjugated bile acids; reduced secondary bile acids; increased primary:secondary ratio) and dysregulated bile-acid receptor signaling through FXR and GPBAR1/TGR5, which modulate intestinal barrier integrity, immune activation, and cholangiocyte homeostasis. (fiorucci2024bileacidsbasedtherapies pages 9-10)

In particular, TGR5 on cholangiocytes supports chloride/bicarbonate secretion (“bicarbonate umbrella”) and anti-inflammatory barrier effects; downregulation is posited to contribute to PSC. (fousekis2025gut–liveraxismicrobiota pages 7-9)

6.3 Microbiome and bile acid metabolism (2024 evidence)

A 2024 metagenomic + bile acid mass spectrometry study (n=116; 54 IBD-PSC, 62 IBD-only) found: * Reduced microbial gene richness (p=0.004) * Significant compositional shift (PERMANOVA R2=0.01, p=0.03) * Species differences: decreased Blautia obeum; increased Veillonella atypica, Veillonella dispar, and Clostridium scindens (q<0.05) * Increased microbial gene abundance for secondary bile-acid metabolism * Serum bile-acid differences (decreased sulphated secondary bile acids; increased conjugated secondary bile acids) associated with greater liver fibrosis. (leibovitzh2024inflammatoryboweldisease pages 1-2)

6.4 Cell types involved (CL term suggestions)

  • Cholangiocyte / biliary epithelial cell (CL:0000062)
  • Kupffer cell / liver macrophage (CL:0000235)
  • Monocyte-derived macrophage (CL:0000863)
  • Hepatic stellate cell (CL:0000632)
  • CD4+ T cell (CL:0000624), Th17 cell (CL:0000899)
  • Regulatory T cell (CL:0000815)
  • NK cell (CL:0000623)
  • Dendritic cell (CL:0000451)

6.5 GO biological process suggestions

  • leukocyte migration (GO:0050900)
  • inflammatory response (GO:0006954)
  • NF-kappaB signaling (GO:0043122)
  • cytokine-mediated signaling pathway (GO:0019221)
  • bile acid metabolic process (GO:0008206)
  • regulation of epithelial barrier function (e.g., tight junction organization GO:0120193)
  • extracellular matrix organization (GO:0030198)
  • collagen fibril organization (GO:0030199)
  • fibrosis / wound healing (e.g., GO:0042060 wound healing)

7. Anatomical structures affected

7.1 Organ and system level

  • Primary: intrahepatic and/or extrahepatic bile ducts; liver (digestive/hepatobiliary system). (ludwig2023secondarysclerosingcholangitis pages 1-3)
  • Secondary (complications): colon/large intestine in PSC-IBD with high neoplasia risk. (okada2026distinctphenotypeof pages 1-2, pitoni2025navigatingneoplasmrisk pages 1-2)

7.2 Tissue/cellular level and UBERON suggestions

  • bile duct (UBERON:0000059)
  • intrahepatic bile duct (UBERON:0001230)
  • extrahepatic bile duct (UBERON:0001103)
  • liver (UBERON:0002107)
  • colon (UBERON:0001155)

8. Temporal development

PSC onset and course

PSC is generally chronic and progressive, with median transplant-free survival commonly reported as ~14–21 years from diagnosis (tertiary vs population-based settings). (crothers2024pastcurrentand pages 1-2, pitoni2025navigatingneoplasmrisk pages 1-2)

SSC-CIP temporal profile

In SSC-CIP, bile duct destruction can begin within days of ICU care and progress rapidly; in COVID-19 SSC, cholangiopathy can present months after infection in reported cohorts and has poor outcomes. (hofstetter2024endoscopiccharacterizationand pages 6-7, bartoli2023secondarysclerosingcholangitis pages 7-8)


9. Inheritance and population

9.1 Epidemiology (recent quantitative data)

Condition/subtype Geography/source (with URL) Study period Key statistics (incidence/prevalence/AAPC or mortality/survival/HR) Notes
PSC-IBD prevalence trends England; Crothers et al. 2024, Lancet Regional Health - Europe; https://doi.org/10.1016/j.lanepe.2024.101002 2015–2027 forecast Among ages 18–60, prevalence was 5.0/100,000 in 2015 (5.7 including IBD diagnosed after PSC) and 7.6/100,000 in 2020 (8.6 including subsequent IBD); AAPC 8.8% from 2015–2020; projected to reach 11.7/100,000 by 2027 (95% PI 10.8–12.7), or 13.3/100,000 including subsequent IBD; projected AAPC 6.4% (crothers2024pastcurrentand pages 1-2) Nationwide population-based prevalence/projection study; also notes median transplant-free survival reported as 14–21 years from diagnosis (crothers2024pastcurrentand pages 1-2)
PSC-IBD epidemiology and outcomes Ontario, Canada; Leung et al. 2025, JHEP Reports; https://doi.org/10.1016/j.jhepr.2024.101272 2002–2018 Incidence 0.46/100,000 person-years; prevalence 5.53/100,000. About 1 PSC-IBD diagnosis per 50 new IBD diagnoses, and ~1 person with PSC-IBD per 100 people living with IBD. IBD diagnosed before PSC in 83%. Compared with IBD alone, PSC-IBD had 4.5-fold greater transplant/death risk. If IBD preceded PSC, transplant/death HR 1.34 and death HR 2.73 (leung2025primarysclerosingcholangitis–inflammatory pages 1-2) Population-based study emphasizing diagnostic sequence; higher socioeconomic status associated with higher incidence and faster increase over time (leung2025primarysclerosingcholangitis–inflammatory pages 1-2)
Secondary sclerosing cholangitis in critically ill COVID-19 patients (SSC-CIP) Berlin, Germany; Leonhardt et al. 2023, Hepatology International; https://doi.org/10.1007/s12072-023-10521-0 COVID-19 cohort during pandemic; hospitalized patients including 1,082 ventilated cases SSC occurred exclusively in invasively ventilated patients at 1 in 43 ventilated COVID-19 patients; 1-year transplant-free survival 40%. Additional outcome metrics reported: HR for death 3.91; median survival 5.7 vs 26.8 months; ~22% may require liver transplantation (leonhardt2023hepatobiliarylongtermconsequences pages 12-13, leonhardt2023hepatobiliarylongtermconsequences pages 1-2) Risk factors preceding SSC-CIP included systemic hypoxia, high SOFA score, high fibrinogen, and ketamine exposure; fibrinogen and LDH were independent risk factors (leonhardt2023hepatobiliarylongtermconsequences pages 12-13, leonhardt2023hepatobiliarylongtermconsequences pages 1-2)
COVID-19-associated secondary sclerosing cholangitis Single tertiary center; Hofstetter et al. 2024, Journal of Gastrointestinal and Liver Diseases; https://doi.org/10.15403/jgld-5476 Feb 2020–Oct 2022 Among 258 mechanically ventilated COVID-19 patients, COVID-19 SSC occurred in 2.6% (10 in-house cases; 7 referred total cohort n=17). Mortality was 14/17 (82%); 3 patients remained in follow-up for possible liver transplantation (hofstetter2024endoscopiccharacterizationand pages 1-2, hofstetter2024endoscopiccharacterizationand pages 6-7) ERC showed biliary casts in all cases; many had severe rarefication of intrahepatic ducts (9/17) and strictures (4/17). Endoscopic therapy was used as a bridge to transplant but recurrence was common (hofstetter2024endoscopiccharacterizationand pages 1-2, hofstetter2024endoscopiccharacterizationand pages 6-7)

Table: This table summarizes recent population-based and clinical outcome data for PSC/PSC-IBD and SSC-CIP, highlighting prevalence trends, incidence, survival, and mortality. It is useful for quickly comparing burden and prognosis across major sclerosing cholangitis subtypes.

9.2 Familial aggregation (genetic component)

Familial aggregation is supported by increased risk in first-degree relatives (reported as >10-fold increased in some summaries), consistent with polygenic inheritance. (okada2026distinctphenotypeof pages 5-7)


10. Diagnostics

10.1 Standard diagnostic approach

PSC diagnosis typically integrates: * Cholestatic liver tests (ALP/GGT predominant pattern) and * Cholangiographic findings on MRCP or ERCP showing multifocal strictures/beading, * With exclusion of secondary causes (including IgG4-SC, malignancy, stones). (ludwig2023secondarysclerosingcholangitis pages 1-3, giorgio2026primarysclerosingcholangitis pages 2-4)

MRCP is preferred as a first-line noninvasive test. (ludwig2023secondarysclerosingcholangitis pages 1-3)

10.2 2024 diagnostic criteria (recent development)

The 2024 Japanese diagnostic criteria for PSC define large-duct PSC by strictures on cholangiography and small-duct PSC by normal cholangiography with PSC-consistent histology. Imaging criterion includes characteristic findings such as multifocal band-like strictures, beaded appearance, pruned-tree appearance, or diverticulum-like outpouching; laboratory criteria include elevated ALP (adults) or GGT (children) and histology may show onion-skin lesion/fibrous obliterative cholangitis. (naitoh2025the2024diagnostic pages 4-5)

Table summarizing these criteria is available as a cited figure/table capture. (naitoh2025the2024diagnostic media a72fe8f4)

10.3 Differential diagnosis (key mimics)

  • SSC etiologies (ischemic, infectious, toxic, immunologic, congenital) can mimic PSC on imaging. (ludwig2023secondarysclerosingcholangitis pages 7-9)
  • IgG4-SC often shows long-segment continuous strictures with circumferential wall thickening; serum IgG4 elevation occurs in ~70–80%; corticosteroids usually lead to dramatic response. (moller2023secondarysclerosingcholangitis pages 10-11)

10.4 Prognostic scoring / biomarkers (limited to retrieved evidence)

The Mayo Risk Score is widely used in PSC and is incorporated into several trials and observational studies for risk stratification. (NCT02424175 chunk 1, giorgio2026primarysclerosingcholangitis pages 2-4)


11. Outcome / prognosis

11.1 PSC survival and major outcomes

Population-based and tertiary-cohort summaries cite median transplant-free survival ~14–21 years. (pitoni2025navigatingneoplasmrisk pages 1-2)

11.2 Malignancy risks and surveillance-relevant outcomes

  • PSC carries a substantial lifetime cholangiocarcinoma (CCA) risk (>20% in several summaries); annual CCA incidence is commonly cited at ~0.5–1.2%/year. (pitoni2025navigatingneoplasmrisk pages 1-2, giorgio2026primarysclerosingcholangitis pages 7-9)
  • PSC-IBD markedly elevates colorectal cancer risk (reviewed estimates range ~4–10× vs IBD alone; some syntheses cite ~10-fold). (pitoni2025navigatingneoplasmrisk pages 1-2)

11.3 SSC-CIP / COVID-19 SSC outcomes

In COVID-19 SSC-CIP cohorts, prognosis is poor: incidence among invasively ventilated patients was ~1 in 43 with 1-year transplant-free survival ~40%. (leonhardt2023hepatobiliarylongtermconsequences pages 1-2)

In a tertiary-center COVID-19 SSC case series, mortality was 82% (14/17). (hofstetter2024endoscopiccharacterizationand pages 1-2)


12. Treatment

12.1 Current standard of care (real-world implementation)

  • No established disease-modifying medical therapy has been proven to improve transplant-free survival; management is largely supportive with complication surveillance and liver transplantation when indicated. (pitoni2025navigatingneoplasmrisk pages 1-2, fiorucci2024bileacidsbasedtherapies pages 10-11)
  • ERCP is used for dominant/clinically relevant strictures and to evaluate/exclude cholangiocarcinoma, including tissue sampling and therapeutic dilation/stenting as clinically appropriate. (giorgio2026primarysclerosingcholangitis pages 2-4)

12.2 Pharmacotherapy and investigational therapies (2023–2024 prioritized)

Bile-acid and nuclear receptor pathways

  • norUrsodeoxycholic acid (norUDCA): Phase 3 trial ongoing/active (NCT03872921); primary outcomes include prevention of disease progression assessed by partial normalization of serum ALP and liver histology over 2 years. (NCT03872921 chunk 1)
  • FXR agonists (e.g., cilofexor): Phase 2 completed; phase 3 program listed as terminated in a 2024 therapeutic landscape review. (NCT02943460 chunk 1, fiorucci2024bileacidsbasedtherapies pages 12-13)

Microbiome-directed therapies

  • FMT (pilot, completed): NCT02424175 open-label pilot (n=10) defined success as ≥50% improvement in ALP/bilirubin/ALT/AST; also assessed microbiome diversity and bile-acid metabolomics. (NCT02424175 chunk 1)
  • FMT (2023–2024 expansion): NCT06286709 (Phase 2, recruiting) uses reduction in ALP at 48 weeks as the primary endpoint with extensive fibrosis and PRO endpoints. (fiorucci2024bileacidsbasedtherapies pages 13-15)
  • Vancomycin: a multicenter randomized placebo-controlled trial (NCT03710122; terminated due to funding) assessed ALP normalization and liver stiffness; a separate European trial VanC-IT (NCT05876182; recruiting) uses ALP change from baseline as primary outcome and includes bile acids, cytokines, immune phenotyping, and PROs. (NCT03710122 chunk 1, NCT05876182 chunk 1)

PPAR agonists / fibrates (evidence summarized)

A 2024 therapeutic review reports substantial ALP reduction in a fibrate trial (fenofibrate vs placebo) and ongoing bezafibrate and elafibranor programs. (fiorucci2024bileacidsbasedtherapies pages 16-18, fiorucci2024bileacidsbasedtherapies pages 11-12)

12.3 MAXO (Medical Action Ontology) term suggestions

(ontology suggestions) * Liver transplantation (MAXO:0001175) * Endoscopic retrograde cholangiopancreatography (MAXO:0000587) * Balloon dilation of biliary stricture (procedure term; MAXO mapping may be institution-specific) * Biliary stenting (procedure term) * Colonoscopy surveillance (MAXO:0000507) * Antibiotic therapy (MAXO:0000127) * Fecal microbiota transplantation (MAXO:0000755)


13. Prevention

Primary prevention strategies for PSC are not established due to unclear etiology. Current preventive care is largely secondary/tertiary prevention via surveillance and complication prevention: * Annual colonoscopy is widely recommended for PSC-IBD due to high CRC risk. (pitoni2025navigatingneoplasmrisk pages 1-2, pitoni2025navigatingneoplasmrisk pages 11-13) * Hepatobiliary malignancy surveillance commonly uses MRI/MRCP every 6–12 months ± CA19-9; gallbladder ultrasound surveillance every 6–12 months is discussed in cancer-risk reviews. (pitoni2025navigatingneoplasmrisk pages 11-13)


14. Other species / natural disease

This tool run did not retrieve veterinary natural-history studies of sclerosing cholangitis across non-human species; therefore cross-species natural disease assertions cannot be made from the current evidence set.


15. Model organisms and experimental systems

15.1 Mouse models used for PSC-like cholangitis and mechanistic studies

  • Mdr2-deficient (Abcb4−/−) mouse: widely used experimental sclerosing cholangitis model; used in 2024 mechanistic work interrogating how colitis interacts with cholangitis and fibrosis. ()
  • Experimental colitis + cholangitis models (e.g., DDC-fed models) are used to probe gut–liver axis interactions. (bedke2024protectivefunctionof pages 1-2)

15.2 Organoid and ex vivo models (2023–2024)

  • A 2023 study used Mdr2−/− mice plus human intrahepatic cholangiocyte organoids to test placental MSC therapy via TGR5 pathway, integrating RNA-seq and bile-acid LC-MS/MS. ()
  • Patient-derived cholangiocyte organoid systems are being used to test immune pathways (e.g., IL-17 signaling) and therapeutic strategies, supporting organoids as translational PSC models. ()

Direct quotes from abstracts (selected)

  • SSC imaging review abstract: “Sclerosing cholangitis (SC) represents a spectrum of chronic progressive cholestatic diseases… characterized by patchy inflammation, fibrosis, and stricturing.” (Möller et al., 2023) (moller2023secondarysclerosingcholangitis pages 1-2)
  • England epidemiology study notes PSC is “a rare, invariably progressive cholestatic liver disease…” with high cancer risk and transplantation relevance. (Crothers et al., 2024) (crothers2024pastcurrentand pages 1-2)
  • COVID-19 SSC-CIP cohort: “One in every 43 invasively ventilated COVID-19 patients developed this complication… The 1-year transplant-free survival rate… was 40%.” (Leonhardt et al., 2023) (leonhardt2023hepatobiliarylongtermconsequences pages 1-2)
  • PSC-IBD microbiome study: “Patients with IBD-PSC had reduced microbial gene richness… and… increased abundance of microbial genes involved in secondary BA metabolism.” (Leibovitzh et al., 2024) (leibovitzh2024inflammatoryboweldisease pages 1-2)

Evidence gaps and limitations (important for knowledge base population)

1) PSC subtype-specific MONDO/Orphanet/OMIM identifiers were not retrieved in this tool run; only umbrella ontology mappings and MeSH were available. (OpenTargets Search: primary sclerosing cholangitis, NCT02943460 chunk 2) 2) ClinVar/gnomAD variant-level details (ACMG classes, allele frequencies) were not retrieved. 3) Some surveillance and guideline statements were available via reviews rather than primary guidelines; guideline PDFs (e.g., AASLD/EASL) were not directly retrieved in this run.

References

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