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progressive familial intrahepatic cholestasis type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Uniprot Description A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.
Disease Ontology Description A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.
Mondo Term and Equivalent IDs
MONDO:0011214:  progressive familial intrahepatic cholestasis type 3
GARD:0001289: 
MESH:C535935: 
Orphanet:79305: 
UMLS:C1865643: