Phosphatidylserine translocator deficiency

(PFIC1)

Synonym(s)
- Progressive familial intrahepatic cholestasis type 1
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ATP8B1 / ATP Phospholipid Transporter Subfamily 8B Member 1
  18q21.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- ATP Phospholipid Transporter Subfamily 8B Member 1
Disease group(s)
- 14.7.4 Other disorders of bile acid metabolism
Child entries
- Bile salt export pump deficiency
- Benign recurrent intrahepatic cholestasis type 2