Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
diseaseOn this page
Summary
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome (MONDO:0034189) is a disease. A subtype of cholangitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 36
Clinical features
Signs & symptoms
Clinical features (HPO)
36 HPO clinical features (Orphanet curated; top 36 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030057 | Autoimmune antibody positivity | Very frequent (80-99%) |
| HP:0032220 | Interface hepatitis | Very frequent (80-99%) |
| HP:0000989 | Pruritus | Frequent (30-79%) |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | Frequent (30-79%) |
| HP:0003237 | Increased circulating IgG level | Frequent (30-79%) |
| HP:0003493 | Antinuclear antibody positivity | Frequent (30-79%) |
| HP:0011040 | Abnormality of the intrahepatic bile duct | Frequent (30-79%) |
| HP:0012378 | Fatigue | Frequent (30-79%) |
| HP:0033562 | Anti-glycoprotein-210 antibody positivity | Frequent (30-79%) |
| HP:0034093 | Anti-Ro52/TRIM21 antibody positivity | Frequent (30-79%) |
| HP:0034107 | Anti-p53 antibody positivity | Frequent (30-79%) |
| HP:0034108 | Anti-Y-box protein-1 antibody positivity | Frequent (30-79%) |
| HP:0034110 | Anti-Gerbich phenotype 1 antibody positivity | Frequent (30-79%) |
| HP:0034111 | Anti-MIT3 antibody positivity | Frequent (30-79%) |
| HP:0034114 | Anti-hexokinase-1 antibody positivity | Frequent (30-79%) |
| HP:0034115 | Anti-Kelch like protein 12 antibody positivity | Frequent (30-79%) |
| HP:0034155 | Anti-sp100 antibody positivity | Frequent (30-79%) |
| HP:0100889 | Abnormality of the ductus choledochus | Frequent (30-79%) |
| HP:0001394 | Cirrhosis | Occasional (5-29%) |
| HP:0001396 | Cholestasis | Occasional (5-29%) |
| HP:0002037 | Inflammation of the large intestine | Occasional (5-29%) |
| HP:0002611 | Cholestatic liver disease | Occasional (5-29%) |
| HP:0002829 | Arthralgia | Occasional (5-29%) |
| HP:0002904 | Hyperbilirubinemia | Occasional (5-29%) |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Occasional (5-29%) |
| HP:0003262 | Smooth muscle antibody positivity | Occasional (5-29%) |
| HP:0003496 | Increased circulating IgM level | Occasional (5-29%) |
| HP:0025344 | Interlobular bile duct destruction | Occasional (5-29%) |
| HP:0030167 | Antimitochondrial antibody positivity | Occasional (5-29%) |
| HP:0030909 | Anti-liver cytosolic antigen type 1 antibody positivity | Occasional (5-29%) |
| HP:0030948 | Elevated gamma-glutamyltransferase level | Occasional (5-29%) |
| HP:0030988 | Granulomatous cholangitis | Occasional (5-29%) |
| HP:0030991 | Sclerosing cholangitis | Occasional (5-29%) |
| HP:0032252 | Granuloma | Occasional (5-29%) |
| HP:0100279 | Ulcerative colitis | Occasional (5-29%) |
| HP:0030908 | Liver kidney microsome type 1 antibody positivity | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome |
| Mondo ID | MONDO:0034189 |
| Orphanet | 562639 |
| UMLS | C5680117 |
| MedGen | 1812237 |
| GARD | 0022250 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of cholangitis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › bile duct disorder › non-neoplastic bile duct disorder › cholangitis › primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Related subtypes (8): suppurative cholangitis, ascending cholangitis, acute cholangitis, pericholangitis, cholecystitis, chronic cholangitis, sclerosing cholangitis, autoimmune cholangitis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.