Conditions / Genetic
progressive familial intrahepatic cholestasis 4
info · Genetic
A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21.
Signs and symptoms
- Cirrhosis
- Intrahepatic cholestasis
- Hepatocellular carcinoma
- Hepatic failure
- Portal hypertension
Also known as: PFIC4; TJP2 deficit