Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 3
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.
Also known as ABCB4 progressive familial intrahepatic cholestasis, cholestasis, progressive familial intrahepatic 3, cholestasis, progressive familial intrahepatic, type 3, MDR3 Deficiency, PFIC3, progressive familial intrahepatic cholestasis caused by mutation in ABCB4 — per MONDO