MCID: CRT064
MIFTS: 18

Corticosterone Methyloxidase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Corticosterone Methyloxidase Deficiency

MalaCards integrated aliases for Corticosterone Methyloxidase Deficiency:

Name: Corticosterone Methyloxidase Deficiency 25
Corticosterone 18-Monooxygenase Deficiency 25 29
Aldosterone Synthase Deficiency 25 37
Aldosterone Deficiency Due to Deficiency of Steroid 18-Hydroxylase 25
Aldosterone Deficiency Due to Deficiency of Steroid 18-Oxidase 25
Corticosterone Methyl Oxidase Type Ii Deficiency 73
Corticosterone Methyl Oxidase Type I Deficiency 73
Familial Hyperreninemic Hypoaldosteronism 25
Corticosterone Methyl Oxidase Deficiency 25
Steroid 18-Hydroxylase Deficiency 25
Steroid 18-Oxidase Deficiency 25
Congenital Hypoaldosteronism 25
18-Hydroxylase Deficiency 25
Aldosterone Deficiency 25
18-Oxidase Deficiency 25
Visser-Cost Syndrome 25
Hypoaldosteronism 73
Cmo Deficiency 25

Classifications:



External Ids:

KEGG 37 H00258

Summaries for Corticosterone Methyloxidase Deficiency

Genetics Home Reference : 25 Corticosterone methyloxidase deficiency, also known as aldosterone synthase deficiency, is a disorder characterized by excessive amounts of sodium released in the urine (salt wasting), along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). Individuals with corticosterone methyloxidase deficiency can also have high levels of acid in the blood (metabolic acidosis).

MalaCards based summary : Corticosterone Methyloxidase Deficiency, also known as corticosterone 18-monooxygenase deficiency, is related to corticosterone methyloxidase type ii deficiency and hyperreninemic hypoaldosteronism, familial, 2, and has symptoms including vomiting An important gene associated with Corticosterone Methyloxidase Deficiency is CYP11B2 (Cytochrome P450 Family 11 Subfamily B Member 2), and among its related pathways/superpathways is Steroid hormone biosynthesis.

Related Diseases for Corticosterone Methyloxidase Deficiency

Diseases related to Corticosterone Methyloxidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corticosterone methyloxidase type ii deficiency 11.4
2 hyperreninemic hypoaldosteronism, familial, 2 11.3
3 corticosterone methyloxidase type i deficiency 11.3
4 hypoaldosteronism 10.1

Symptoms & Phenotypes for Corticosterone Methyloxidase Deficiency

UMLS symptoms related to Corticosterone Methyloxidase Deficiency:


vomiting

Drugs & Therapeutics for Corticosterone Methyloxidase Deficiency

Search Clinical Trials , NIH Clinical Center for Corticosterone Methyloxidase Deficiency

Genetic Tests for Corticosterone Methyloxidase Deficiency

Genetic tests related to Corticosterone Methyloxidase Deficiency:

# Genetic test Affiliating Genes
1 Corticosterone 18-Monooxygenase Deficiency 29

Anatomical Context for Corticosterone Methyloxidase Deficiency

Publications for Corticosterone Methyloxidase Deficiency

Articles related to Corticosterone Methyloxidase Deficiency:

(show all 13)
# Title Authors Year
1
Aldosterone synthase deficiency type II with hypospadias. ( 22565077 )
2012
2
Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses. ( 20494601 )
2010
3
A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency. ( 19116236 )
2009
4
Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene. ( 18178501 )
2008
5
9alpha-Fluorohydrocortisone therapy in aldosterone synthase deficiency. ( 15782303 )
2005
6
Aldosterone synthase deficiency and related disorders. ( 15134805 )
2004
7
A particular phenotype in a girl with aldosterone synthase deficiency. ( 15240589 )
2004
8
A compound heterozygote case of type II aldosterone synthase deficiency. ( 12788848 )
2003
9
Chromatographic system for the simultaneous measurement of plasma 18-hydroxy-11-deoxycorticosterone and 18-hydroxycorticosterone by radioimmunoassay: reference data for neonates and infants and its application in aldosterone-synthase deficiency. ( 12554142 )
2003
10
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. ( 11238478 )
2001
11
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II. ( 9838244 )
1998
12
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. ( 9814506 )
1998
13
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. ( 9360501 )
1997

Variations for Corticosterone Methyloxidase Deficiency

Expression for Corticosterone Methyloxidase Deficiency

Search GEO for disease gene expression data for Corticosterone Methyloxidase Deficiency.

Pathways for Corticosterone Methyloxidase Deficiency

Pathways related to Corticosterone Methyloxidase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

GO Terms for Corticosterone Methyloxidase Deficiency

Sources for Corticosterone Methyloxidase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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