MCID: CRT064
MIFTS: 12

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 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 69
Corticosterone Methyl Oxidase Type I Deficiency 69
Familial Hyperreninemic Hypoaldosteronism 25
Corticosterone Methyl Oxidase Deficiency 25
Steroid 18-Hydroxylase Deficiency 25
Aldosterone Synthase 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 69
Cmo Deficiency 25

Classifications:



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 hyperreninemic hypoaldosteronism, familial, 2 and hypoaldosteronism, congenital, due to cmo ii deficiency, and has symptoms including vomiting An important gene associated with Corticosterone Methyloxidase Deficiency is CYP11B2 (Cytochrome P450 Family 11 Subfamily B Member 2).

Related Diseases for Corticosterone Methyloxidase Deficiency

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

id Related Disease Score Top Affiliating Genes
1 hyperreninemic hypoaldosteronism, familial, 2 11.2
2 hypoaldosteronism, congenital, due to cmo ii deficiency 11.1
3 hypoaldosteronism, congenital, due to cmo i deficiency 11.0
4 hypoaldosteronism 10.0

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:

id 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:

id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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