Visualize Submit Comment

Metadata
ID	DOID:0090141
Name	cortisone reductase deficiency 1
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. https://www.ncbi.nlm.nih.gov/pubmed/29843121, https://www.omim.org/entry/604931
Xrefs	MIM:604931 NCI:C131849
Subsets	NCIthesaurus
Synonyms	CORTRD1 [EXACT]
Parent Relationships	is_a cortisone reductase deficiency is_a autosomal recessive disease