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Progressive familial intrahepatic cholestasis type 1
1 OMIM reference -
1 associated gene
2 connected diseases
No signs/symptoms info
Disease Type of connection
Benign recurrent intrahepatic cholestasis type 1
Intrahepatic cholestasis of pregnancy
Synonym(s):
- Byler disease
- FIC1 deficiency
- PFIC1
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535933
Gene symbol UniProt reference OMIM reference
ATP8B1 O43520602397
No signs/symptoms info available.