progressive familial intrahepatic cholestasis type 3

Rare Disease

MONDO:0011214

Also Known As

ABCB4 progressive familial intrahepatic cholestasisMDR3 DeficiencyPFIC3cholestasis, progressive familial intrahepatic 3cholestasis, progressive familial intrahepatic, type 3progressive familial intrahepatic cholestasis caused by mutation in ABCB4Mdr3 deficiencycholestasis, progressive familial intrahepatic, 3cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferaseprogressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase

Definition

Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.