benign recurrent intrahepatic cholestasis 1

info · Genetic

A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q.

Signs and symptoms

Conjugated hyperbilirubinemia
Hearing impairment
Intermittent jaundice
Hepatomegaly
Pruritus
Intrahepatic cholestasis with episodic jaundice
Increased serum bile acid concentration
Pancreatitis

Also known as: BRIC type 1; BRIC1; Summerskill syndrome