Version: 8.0.0
Date: Tue Jan 28 2025
cortisone reductase deficiency 2
DOID:0090140
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

cortisone reductase deficiency 2

Definition
A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
Synonyms
  • CORTRD2
Cross References
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