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progressive familial intrahepatic cholestasis type 1

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


GARD Rare
Mondo Description PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.
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 that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.
Mondo Term and Equivalent IDs
MONDO:0008892:  progressive familial intrahepatic cholestasis type 1
GARD:0009802: 
Orphanet:79306: 
UMLS:CN205891: