ORPHA:79306
Progressive familial intrahepatic cholestasis type 1
Synonyms: Byler disease · FIC1 deficiency · PFIC1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive familial intrahepatic cholestasis type 1 | Byler disease · FIC1 deficiency · PFIC1 |
| fr | Cholestase intrahépatique familiale progressive type 1 | Déficit en FIC1 · Maladie de Byler · PFIC1 |
| de | Cholestase, intrahepatische progressive, familiäre, Typ 1 | |
| es | Colestasis intrahepática familiar progresiva tipo 1 | |
| it | Colestasi intraepatica familiare progressiva, tipo 1 | Deficit di FIC1 · Malattia di Byler · PFIC1 |
| nl | Progressieve familiale intrahepatische cholestase type 1 | FIC1-deficiëntie · PFIC1 · Ziekte van Byler |
| pt | Colestase intra-hepática progressiva familiar tipo 1 | |
| pl | Postępująca rodzinna wewnątrzwątrobowa cholestaza typu 1 | Choroba Bylera · Niedobór FIC1 · PFIC1 |
| cs | Progresivní familiární intrahepatální cholestáza, typ 1 | Bylerova nemoc · Deficit FIC1 · PFIC1 |
| uk | Прогресуючий сімейний внутрішньопечінковий холестаз, тип 1 | Хвороба Байлєра · Дефіцит FIC1 · PFIC1 |
| zh | 进行性家族性肝内胆汁淤积1型 | FIC1缺乏 |
| tr | İlerleyici ailesel intrahepatik kolestaz tip 1 | PFIC1 · Byler hastalığı · FIC1 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211600 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.03 | NTBT | index | validated |
| MONDO | 0008892 | E | validated | |
| MeSH | C535933 | E | validated | |
| UMLS | C4551898 | E | validated | |
| GARD | 9802 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP8B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3706 | ENSG00000081923 | 602397 | 18q21.31 | ATPase phospholipid transporting 8B1 | 20301474[PMID] |
| MYO5B | Disease-causing germline mutation(s) in | Assessed | HGNC:7603 | ENSG00000167306 | 606540 | 18q21.1 | myosin VB | 27532546[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/79306
- This record as JSON: /data/d/79306.json