MCID: CRT064
MIFTS: 16

Corticosterone Methyloxidase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Corticosterone Methyloxidase Deficiency

MalaCards integrated aliases for Corticosterone Methyloxidase Deficiency:

Name: Corticosterone Methyloxidase Deficiency 24
Corticosterone 18-Monooxygenase Deficiency 24 28
Aldosterone Synthase Deficiency 24 36
Aldosterone Deficiency Due to Deficiency of Steroid 18-Hydroxylase 24
Aldosterone Deficiency Due to Deficiency of Steroid 18-Oxidase 24
Corticosterone Methyl Oxidase Type Ii Deficiency 69
Corticosterone Methyl Oxidase Type I Deficiency 69
Familial Hyperreninemic Hypoaldosteronism 24
Corticosterone Methyl Oxidase Deficiency 24
Steroid 18-Hydroxylase Deficiency 24
Steroid 18-Oxidase Deficiency 24
Congenital Hypoaldosteronism 24
18-Hydroxylase Deficiency 24
Aldosterone Deficiency 24
18-Oxidase Deficiency 24
Visser-Cost Syndrome 24
Hypoaldosteronism 69
Cmo Deficiency 24

Classifications:



External Ids:

KEGG 36 H00258

Summaries for Corticosterone Methyloxidase Deficiency

Genetics Home Reference : 24 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 hyperreninemic hypoaldosteronism, familial, 2 and corticosterone methyloxidase type i deficiency, 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 hyperreninemic hypoaldosteronism, familial, 2 11.3
2 corticosterone methyloxidase type i deficiency 11.3
3 corticosterone methyloxidase type ii deficiency 11.1
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 28

Anatomical Context for Corticosterone Methyloxidase Deficiency

Publications for Corticosterone Methyloxidase Deficiency

Articles related to Corticosterone Methyloxidase Deficiency:

# Title Authors Year
1
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II. ( 9838244 )
1998

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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