OnlineIMD
Progressive familial intrahepatic cholestasis
(PFIC)
Type
Phenotype
External link(s)
Orphanet
Associated genes
Gene list
ATP8B1
Phosphatidylserine translocator deficiency
ABCB11
Bile salt export pump deficiency
ABCB4
Phosphatidylcholine translocator deficiency
NR1H1
SLC51A
Organic solute transporter alpha deficiency
Disease group(s)
14.7.4 Other disorders of bile acid metabolism