Bile acid receptor deficiency

(PFIC5)

Synonym(s)
- Progressive familial intrahepatic cholestasis type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- NR1H4 / Nuclear Receptor Subfamily 1 Group H Member 4
  12q23.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Liver X receptor beta
Disease group(s)
- 14.7.4 Other disorders of bile acid metabolism