FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cortisone reductase deficiency 1 ID (Ontology) DOID:0090141 (Human Disease)
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.
Also Known As "CORTRD1"
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 Genes
 cortisone reductase deficiency 1       2
 for disease ribbon | cortisone reductase deficiency 1       2
 model of | cortisone reductase deficiency 1       2
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autosomal genetic disease
 |__autosomal recessive disease_____
endocrine system disease            |
 |__cortisone reductase deficiency__|
                                    cortisone reductase deficiency 1  2 rec.
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Is a autosomal recessive disease
cortisone reductase deficiency
Part of
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Synonyms
  • "CORTRD1" EXACT OMO:0003012
Secondary IDs
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MIM:604931
NCI:C131849