Phosphatidylcholine translocator deficiency

(PFIC3)

Synonym(s)
- Progressive familial intrahepatic cholestasis type 3
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- ABCB4 / ATP Binding Cassette Subfamily B Member 4
  7q21.12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Multidrug resistance protein 3
Disease group(s)
- 14.7.4 Other disorders of bile acid metabolism
Child entries
- low phospholipid-associated cholelithiasis