Cortisone reductase deficiency 2

Definition

Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.

Also known as 11-beta-hydroxysteroid dehydrogenase type 1 deficiency, cortisone reductase deficiency 2, cortisone reductase deficiency caused by mutation in HSD11B1, cortisone reductase deficiency type 2, CORTRD2, HSD11B1 cortisone reductase deficiency — per MONDO

Also identified as

• DOID 0090140 per MONDO
• NCIT C131084 per MONDO
• OMIM 614662 per MONDO
• UMLS C3553382 per MONDO

Affected Organs