Details of Disease | DrugMAP

General Information of Disease (ID: DIS88XDM)

Disease Name	Cortisone reductase deficiency
Synonyms	11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of; HSD 11B1 deficiency; hyperandrogenism due to cortisone reductase deficiency; deficiency of cortisone reductase; deficiency of (R)-20-hydroxysteroid dehydrogenase; CORTRD; 11-beta-hydroxysteroid dehydrogenase deficiency type 1
Definition	A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.
Disease Hierarchy	DISEOA7S: Lipid metabolism disorder DIS7W23Z: Reproductive system disorder DIS2N76U: Adrenogenital syndrome DIS88XDM: Cortisone reductase deficiency
Disease Identifiers	MONDO ID MONDO_0000193 MESH ID C536447 UMLS CUI C1291245 MedGen ID 266223 Orphanet ID 168588 SNOMED CT ID 124138004

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	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
H6PD	OTO7TNDD	Supportive	Autosomal dominant	[3]
HSD11B1	OTO7FJA9	Supportive	Autosomal dominant	[2]
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References

1	Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. Chem Biol Interact. 2015 Jun 5;234:114-25.
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.
3	Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. J Clin Endocrinol Metab. 2008 Oct;93(10):3827-32. doi: 10.1210/jc.2008-0743. Epub 2008 Jul 15.