progressive familial intrahepatic cholestasis 5

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q.

Signs and symptoms

• Elevated circulating aspartate aminotransferase concentration
• Hepatic failure
• Cirrhosis
• Elevated circulating alanine aminotransferase concentration
• Conjugated hyperbilirubinemia
• Prolonged prothrombin time
• Elevated circulating alpha-fetoprotein concentration
• Hyperammonemia
• Hypoglycemia
• Jaundice

Also known as: NR1H4 deficiency; PFIC5