Cholesterol 7-alpha-hydroxylase deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- CYP7A1 / Cytochrome P450 Family 7 Subfamily A Member 1
  8q12.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Cholesterol 7-alpha-hydroxylase
Disease group(s)
- 14.7.2. Disorders of bile acid synthesis
Child entries
- 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency
- Delta-4-3-oxosteroid 5-beta-reductase deficiency