Cholestasis, progressive familial intrahepatic 1 [Supplementary Concept]
A heterogeneous group of hereditary liver disorders characterized by the early onset of CHOLESTASIS that progresses to hepatic FIBROSIS; LIVER CIRRHOSIS, and END-STAGE LIVER DISEASE before adulthood. Germline mutations in the ATP8B1 gene have been identified. OMIM: 211600
Date introduced: August 25, 2010
MeSH Unique ID: C535933
Heading Mapped to:
Entry Terms:
- Progressive familial intrahepatic cholestasis
- Cholestasis, fatal intrahepatic
- Byler's disease
- Byler disease
- Cholestasis, Progressive Familial Intrahepatic, 1
- Progressive familial intrahepatic cholestasis type 1 (PFIC1)
- FIC1 deficiency
- Progressive familial intrahepatic cholestasis type 1 (PFIC 1)
- PFIC1 Progressive familial intrahepatic cholestasis type 1
- Summerskill syndrome
- Cholestasis, benign recurrent intrahepatic 1
- Cholestasis, Benign Recurrent Intrahepatic, 1