/progressive familial intrahepatic cholestasis type 2

progressive familial intrahepatic cholestasis type 2

Rare Disease

MONDO:0011156

Also Known As

ABCB11 progressive familial intrahepatic cholestasisBSEP deficiencyPFIC2cholestasis, progressive familial intrahepatic 2cholestasis, progressive familial intrahepatic, type 2progressive familial intrahepatic cholestasis caused by mutation in ABCB11progressive familial intrahepatic cholestasis type 2cholestasis, progressive familial intrahepatic, 2severe ABCB11 deficiency

Definition

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.