cortisone reductase deficiency 2
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.
MONDO:0000193
cortisone reductase deficiency
is_a
11-beta-hydroxysteroid dehydrogenase type 1 deficiency
exact
CORTRD2
exact
HSD11B1 cortisone reductase deficiency
exact
cortisone reductase deficiency 2
exact
cortisone reductase deficiency caused by mutation in HSD11B1
exact
cortisone reductase deficiency type 2
exact