progressive familial intrahepatic cholestasis 1

info · Genetic

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.

Signs and symptoms

Conjugated hyperbilirubinemia
Jaundice
Hepatomegaly
Pruritus
Short stature
Rickets
Epistaxis
Diarrhea
Fat malabsorption
Cirrhosis

Also known as: FIC1 deficiency; PFIC1