Conditions / Genetic
benign recurrent intrahepatic cholestasis 2
info · Genetic
A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31.
Signs and symptoms
- Conjugated hyperbilirubinemia
- Elevated circulating alkaline phosphatase concentration
- Hepatomegaly
- Cholelithiasis
- Pruritus
- Jaundice
- Intrahepatic cholestasis
Also known as: BRIC type 2; BRIC2