progressive familial intrahepatic cholestasis 3

info · Genetic

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.

Signs and symptoms

Diarrhea
Cirrhosis
Hepatomegaly
Elevated gamma-glutamyltransferase level
Portal fibrosis
Pruritus
Elevated circulating hepatic transaminase concentration
Jaundice
Splenomegaly
Ascites

Also known as: MDR3 deficiency; PFIC3; progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase