ORPHA:79305
Progressive familial intrahepatic cholestasis type 3
Synonyms: PFIC3
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive familial intrahepatic cholestasis type 3 | PFIC3 |
| fr | Cholestase intrahépatique familiale progressive type 3 | = en |
| de | Cholestase, intrahepatische progressive, familiäre, Typ 3 | |
| es | Colestasis intrahepática familiar progresiva tipo 3 | |
| it | Colestasi intraepatica familiare progressiva, tipo 3 | = en |
| nl | Progressieve familiale intrahepatische cholestase type 3 | = en |
| pt | Colestase intra-hepática progressiva familiar tipo 3 | |
| pl | Postępująca rodzinna wewnątrzwątrobowa cholestaza typu 3 | = en |
| cs | Progresivní familiární intrahepatální cholestáza, typ 3 | = en |
| uk | Прогресуючий сімейний внутрішньопечінковий холестаз, тип 3 | = en |
| zh | 进行性家族性肝内胆汁淤积3型 | = en |
| tr | İlerleyici ailesel intrahepatik kolestaz tip 3 | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602347 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.03 | NTBT | index | validated |
| MONDO | 0011214 | E | validated | |
| MeSH | C535935 | E | validated | |
| UMLS | C1865643 | E | validated | |
| GARD | 1289 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:172Progressive familial intrahepatic cholestasis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCB4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:45 | ENSG00000005471 | 171060 | 7q21.12 | ATP binding cassette subfamily B member 4 | 17726488[PMID]_21119540[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79305
- This record as JSON: /data/d/79305.json