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cholestasis, progressive familial intrahepatic, 5
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
Uniprot Description A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC5 is an autosomal recessive, severe form characterized by onset of intralobular cholestasis in the neonatal period.
Disease Ontology Description 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.