Details of Disease | DrugMAP

General Information of Disease (ID: DISICD5B)

Disease Name	Corticosterone methyloxidase type 2 deficiency
Synonyms	aldosterone deficiency 2; hyperreninemic hypoaldosteronism, familial, 1; aldosterone deficiency due to deficiency of steroid 18-oxidase; Cmo 2 deficiency; corticosterone methyloxidase type II deficiency; steroid 18-oxidase deficiency; 18-oxidase deficiency; hypoaldosteronism, congenital, due to CMO II deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DISO4PCN: Familial hypoaldosteronism DISICD5B: Corticosterone methyloxidase type 2 deficiency
Disease Identifiers	MONDO ID MONDO_0012524 UMLS CUI C3463917 OMIM ID 610600 MedGen ID 483046

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11B2	TT9MNE2	Limited	Biomarker	[1]
CYP11B1	TTIQUX7	Strong	Biomarker	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP11B2	DE6TYUK	Strong	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP11B2	OTIOLWYN	Strong	Autosomal recessive	[3]
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References

1	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.Eur J Hum Genet. 2014 May;22(5):610-6. doi: 10.1038/ejhg.2013.197. Epub 2013 Sep 11.
2	Inborn errors of aldosterone biosynthesis in humans.Steroids. 1995 Jan;60(1):15-21. doi: 10.1016/0039-128x(94)00023-6.
3	Type 1 aldosterone synthase deficiency presenting in a middle-aged man. J Clin Endocrinol Metab. 2001 Mar;86(3):1008-12. doi: 10.1210/jcem.86.3.7326.