A hereditary autsomal recessive form of intrahepatic cholestasis characterized by childhood onset of CHOLESTASIS that progresses to hepatic FIBROSIS, cirrhosis, and END-STAGE LIVER DISEASE before adulthood. Mutations in the ABCB4 gene have been identified. OMIM: 602347
Also Known As:
Cholestasis, progressive familial intrahepatic 3; Abcb4-Related Intrahepatic Cholestasis; Cholestasis, Progressive Familial Intrahepatic, 3; Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase; Low gamma-GT Familial Intrahepatic Cholestasis; MDR3 Deficiency; PFIC3 Progressive familial intrahepatic cholestasis type 3; Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3); Progressive Familial Intrahepatic Cholestasis 3 (PFIC3); Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase