Details of Disease

General Information of Disease (ID: DISMEWRE)

• Disease Name: Corticosterone methyloxidase type 1 deficiency
• Synonyms: CAH - 18-hydroxylase deficiency; aldosterone deficiency due to defect in 18 hydroxylase; corticosterone methyl oxidase type II deficiency; 18 Hydroxylase deficiency; 18-Hydroxylase deficiency; CMO I deficiency; 18-hydroxylase deficiency; hyperreninemic hypoaldosteronism, familial, 1; corticosterone methyloxidase type I deficiency; CMO II deficiency; aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency; aldosterone deficiency due to defect in steroid 18-Hydroxylase; aldosterone deficiency 1; steroid 18-hydroxylase deficiency; CMO 1 deficiency; corticosterone methyl oxidase type I deficiency; 18 alpha hydroxylase deficiency; 18-hydroxycorticosterone dehydrogenase deficiency; aldosterone deficiency due to 18-hydroxylase defect; hypoaldosteronism, congenital, due to cmo i deficiency; corticosterone methyloxidase type 1 deficiency; corticosterone 18-monooxygenase deficiency
• Disease Hierarchy:
  DIS7HZ3M: Steroid metabolism disease
  DISEOA7S: Lipid metabolism disorder
  DISO4PCN: Familial hypoaldosteronism
  DISMEWRE: Corticosterone methyloxidase type 1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008751
  MESH ID: C537806
  UMLS CUI: C0268293
  OMIM ID: 203400
  MedGen ID: 82784
  SNOMED CT ID: 47757001

Molecular Interaction Atlas (MIA) of This Disease

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]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP11B2	DE6TYUK	Moderate	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

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

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] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.