Details of Disease

General Information of Disease (ID: DISKWH38)

• Disease Name: Cortisone reductase deficiency 1
• Synonyms: cortisone reductase deficiency 1; H6PD cortisone reductase deficiency; hexose-6-phosphate dehydrogenase deficiency; cortisone reductase deficiency caused by mutation in H6PD; CORTRD1; cortisone reductase deficiency type 1; apparent cortisone reductase deficiency
• Definition: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. 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 11-beta HSD type 1 deficiency.
• Disease Hierarchy:
  DIS88XDM: Cortisone reductase deficiency
  DISKWH38: Cortisone reductase deficiency 1
• Disease Identifiers:
  MONDO ID: MONDO_0011503
  UMLS CUI: C3551716
  OMIM ID: 604931
  MedGen ID: 764630

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
H6PD	OTO7TNDD	Strong	Autosomal recessive	[1]

References

• [1] Hexose-6-phosphate dehydrogenase knock-out mice lack 11 beta-hydroxysteroid dehydrogenase type 1-mediated glucocorticoid generation. J Biol Chem. 2006 Mar 10;281(10):6546-51. doi: 10.1074/jbc.M512635200. Epub 2005 Dec 15.