progressive familial intrahepatic cholestasis 2

info · Genetic

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.

Signs and symptoms

Diarrhea
Fat malabsorption
Intermittent jaundice
Short stature
Elevated circulating alkaline phosphatase concentration
Cirrhosis
Hepatomegaly
Conjugated hyperbilirubinemia
Failure to thrive
Pruritus

Also known as: BSEP deficiency; PFIC2