Progressive familial intrahepatic cholestasis type 2
Synonyms: BSEP deficiency · PFIC2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive familial intrahepatic cholestasis type 2 | BSEP deficiency · PFIC2 |
| fr | Cholestase intrahépatique familiale progressive type 2 | Déficit en BSEP · PFIC2 |
| de | Cholestase, intrahepatische progressive, familiäre, Typ 2 | |
| es | Colestasis intrahepática familiar progresiva tipo 2 | |
| it | Colestasi intraepatica familiare progressiva, tipo 2 | Deficit di BSEP · PFIC2 |
| nl | Progressieve familiale intrahepatische cholestase type 2 | BSEP-deficiëntie · PFIC2 |
| pt | Colestase intra-hepática progressiva familiar tipo 2 | |
| pl | Postępująca rodzinna wewnątrzwątrobowa cholestaza typu 2 | Niedobór BSEP · PFIC2 |
| cs | Progresivní familiární intrahepatální cholestáza, typ 2 | Deficit BSEP · PFIC2 |
| uk | Прогресуючий сімейний внутрішньопечінковий холестаз, тип 2 | Дефіцит BSEP · PFIC2 |
| zh | 进行性家族性肝内胆汁淤积2型 | BSEP缺乏 |
| tr | İlerleyici ailesel intrahepatik kolestaz tip 2 | PFIC2 · BSEP eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601847 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.03 | NTBT | index | validated |
| MONDO | 0011156 | E | validated | |
| MeSH | C535934 | E | validated | |
| UMLS | C3489789 | E | validated | |
| GARD | 1288 | 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 (1):
- ORPHA:172Progressive familial intrahepatic cholestasis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCB11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:42 | ENSG00000073734 | 603201 | 2q31.1 | ATP binding cassette subfamily B member 11 | 9806540[PMID]_15791618[PMID] |
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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79304
- This record as JSON: /data/d/79304.json