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