OBO ID: DOID:0090141
Term Name: cortisone reductase deficiency 1 Search Ontology:
Synonyms:
  • CORTRD1
Definition: A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (2)
References:
Ontology: Human Disease   (DOID:0090141)
OTHER cortisone reductase deficiency 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
H6PD Cortisone reductase deficiency 1 604931
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None