Details of Disease | DrugMAP

General Information of Disease (ID: DISSA1XS)

Disease Name	Cortisone reductase deficiency 2
Synonyms	HSD11B1 cortisone reductase deficiency; cortisone reductase deficiency 2; cortisone reductase deficiency type 2; cortisone reductase deficiency caused by mutation in HSD11B1; CORTRD2; 11-beta-hydroxysteroid dehydrogenase type 1 deficiency
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.
Disease Hierarchy	DIS88XDM: Cortisone reductase deficiency DISSA1XS: Cortisone reductase deficiency 2
Disease Identifiers	MONDO ID MONDO_0013842 UMLS CUI C3553382 OMIM ID 614662 MedGen ID 766296

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSD11B1	TTN7BL9	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HSD11B1	DEZDRQO	Limited	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSD11B1	OTO7FJA9	Limited	Autosomal dominant	[2]
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References

1	Novel adipose tissue-mediated resistance to diet-induced visceral obesity in 11 beta-hydroxysteroid dehydrogenase type 1-deficient mice.Diabetes. 2004 Apr;53(4):931-8. doi: 10.2337/diabetes.53.4.931.
2	Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4111-6. doi: 10.1073/pnas.1014934108. Epub 2011 Feb 15.