progressive familial intrahepatic 1 Cholestasis

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

Also Known As:

Cholestasis, progressive familial intrahepatic 1; Byler disease; Byler's disease; Cholestasis, Benign Recurrent Intrahepatic, 1; Cholestasis, Progressive Familial Intrahepatic, 1; Cholestasis, benign recurrent intrahepatic 1; Cholestasis, fatal intrahepatic; FIC1 deficiency; PFIC1 Progressive familial intrahepatic cholestasis type 1; Progressive familial intrahepatic cholestasis; Progressive familial intrahepatic cholestasis type 1 (PFIC 1); Progressive familial intrahepatic cholestasis type 1 (PFIC1); Summerskill syndrome

Digestive System Diseases: 1042
- Liver Diseases: 41660
  - Intrahepatic Cholestasis: 1064
    - progressive familial intrahepatic 1 Cholestasis: 350
- Biliary Tract Diseases: 466
  - Bile Duct Diseases: 95
    - Cholestasis: 7937
      - Intrahepatic Cholestasis: 1064
        progressive familial intrahepatic 1 Cholestasis: 350

Chien-I Chao Selected Research

Chien-I Chao Research Topics

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