Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Synonyms: Overlap syndromes of autoimmune liver diseases · PBC/PSC and AIH overlap syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome | Overlap syndromes of autoimmune liver diseases · PBC/PSC and AIH overlap syndrome |
| fr | Syndrome de chevauchement d'hépatite auto-immune avec cirrhose biliaire primitive/cholangite sclérosante primitive | Sydrome de chevauchement de HAI avec CBP/CSP · Syndrome de chevauchement des maladies hépatiques auto-immunes |
| de | Primäre biliäre Cholangitis/primäre sklerosierende Cholangitis und autoimmune Hepatitis-Übergangsform | PBC/PSC und AIH-Overlap-Syndrom · Überlappungssyndrome autoimmuner Lebererkrankungen |
| es | Síndrome de solapamiento de colangitis biliar primaria/colangitis esclerosante primaria y hepatitis autoinmune | Síndromes de solapamiento de enfermedades hepáticas autoinmunes |
| it | Sindrome da sovrapposizione della colangite biliare primitiva/colangite sclerosante primitiva ed epatite autoimmune | Sindrome da sovrapposizione di CBP/CSP ed EA · Sindromi da sovrapposizione di più epatopatie autoimmuni |
| nl | Primaire biliaire cholangitis/primaire scleroserende cholangitis en auto-immune hepatitis-overlapsyndroom | Overlapsyndromen van auto-immune leverziekten · PBC/PSC en AIH-overlapsyndroom |
| pt | Síndrome de sobreposição fenótipica de colangite biliar primária/colangite esclerosante primária e hepatite autoimune | |
| pl | Zespół nakładania się objawów pierwotnego żółciowego zapalenia dróg żółciowych/pierwotnego stwardniającego zapalenia dróg żółciowych i autoimmunologicznego zapalenia wątroby | = en |
| cs | Překryvný syndrom primární biliární cholangitidy/primární sklerotizující cholangitidy a autoimunitní hepatitidy | = en |
| uk | Первинний біліарний холангіт/первинний склерозуючий холангіт та Overlap-синдром групи аутоімунного гепатиту | Синдроми перекриття аутоімунних захворювань печінки · Синдром накладання PBC/PSC та AIH |
| zh | 原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎综合征 | 原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎重叠综合征 |
| tr | Primer biliyer kolanjit/primer sklerozan kolanjit ve otoimmün hepatit örtüşen sendrom | Otoimmün karaciğer hastalıklarının örtüşen sendromları · PBC/PSC ve AIH örtüşen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K75.4 | NTBT | attributed | validated |
| ICD-11 | DB96.Y | NTBT | index | validated |
| MONDO | 0034189 | E | validated | |
| UMLS | C5680117 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
36 annotations · validated 2021-06-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0032220 | Interface hepatitis | |
| Frequent (79-30%) | ||
| HP:0100889 | Abnormality of the ductus choledochus | |
| HP:0011040 | Abnormality of the intrahepatic bile duct | |
| HP:0034110 | Anti-Gerbich phenotype 1 antibody positivity | |
| HP:0034115 | Anti-Kelch like protein 12 antibody positivity | |
| HP:0034111 | Anti-MIT3 antibody positivity | |
| HP:0034093 | Anti-Ro52/TRIM21 antibody positivity | |
| HP:0034108 | Anti-Y-box protein-1 antibody positivity | |
| HP:0033562 | Anti-glycoprotein-210 antibody positivity | |
| HP:0034114 | Anti-hexokinase-1 antibody positivity | |
| HP:0034107 | Anti-p53 antibody positivity | |
| HP:0034155 | Anti-sp100 antibody positivity | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0012378 | Fatigue | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0030909 | Anti-liver cytosolic antigen type 1 antibody positivity | |
| HP:0030167 | Antimitochondrial antibody positivity | |
| HP:0002829 | Arthralgia | |
| HP:0001396 | Cholestasis | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0001394 | Cirrhosis | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0032252 | Granuloma | |
| HP:0030988 | Granulomatous cholangitis | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0003496 | Increased circulating IgM level | |
| HP:0002037 | Inflammation of the large intestine | |
| HP:0025344 | Interlobular bile duct destruction | |
| HP:0030991 | Sclerosing cholangitis | |
| HP:0003262 | Smooth muscle antibody positivity | |
| HP:0100279 | Ulcerative colitis | |
| Very rare (<4-1%) | ||
| HP:0030908 | Liver kidney microsome type 1 antibody positivity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22817525[PMID]_28690845[PMID]_22817525[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/562639
- This record as JSON: /data/d/562639.json