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Human Disease
cortisone reductase deficiency 1
- Term ID
- DOID:0090141
- Synonyms
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- 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
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- MIM:604931
- NCI:C131849
- Ontology
- Human Disease ( DOID:0090141 )
- is a type of
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