MCID: CRT064
MIFTS: 19

Corticosterone Methyloxidase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Corticosterone Methyloxidase Deficiency

MalaCards integrated aliases for Corticosterone Methyloxidase Deficiency:

Name: Corticosterone Methyloxidase Deficiency 26
Aldosterone Synthase Deficiency 26 38
Aldosterone Deficiency Due to Deficiency of Steroid 18-Hydroxylase 26
Aldosterone Deficiency Due to Deficiency of Steroid 18-Oxidase 26
Corticosterone Methyl Oxidase Type Ii Deficiency 74
Corticosterone Methyl Oxidase Type I Deficiency 74
Corticosterone 18-Monooxygenase Deficiency 26
Familial Hyperreninemic Hypoaldosteronism 26
Corticosterone Methyl Oxidase Deficiency 26
Steroid 18-Hydroxylase Deficiency 26
Steroid 18-Oxidase Deficiency 26
Congenital Hypoaldosteronism 26
18-Hydroxylase Deficiency 26
Aldosterone Deficiency 26
18-Oxidase Deficiency 26
Visser-Cost Syndrome 26
Hypoaldosteronism 74
Cmo Deficiency 26

Classifications:



External Ids:

KEGG 38 H00258

Summaries for Corticosterone Methyloxidase Deficiency

Genetics Home Reference : 26 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 aldosterone synthase 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:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 corticosterone methyloxidase type ii deficiency 11.6
2 hyperreninemic hypoaldosteronism, familial, 2 11.5
3 corticosterone methyloxidase type i deficiency 11.5
4 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 11.1
5 hypoaldosteronism 10.3
6 pseudohermaphroditism 10.1
7 hypospadias 9.9
8 conn's syndrome 9.9
9 lipoid congenital adrenal hyperplasia 9.7
10 renal tubular acidosis 9.7
11 chronic pyelonephritis 9.7
12 pyelonephritis 9.7
13 hyperinsulinism 9.7
14 renal tubular acidosis, distal 9.7

Graphical network of the top 20 diseases related to Corticosterone Methyloxidase Deficiency:



Diseases related to Corticosterone Methyloxidase Deficiency

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

Anatomical Context for Corticosterone Methyloxidase Deficiency

Publications for Corticosterone Methyloxidase Deficiency

Articles related to Corticosterone Methyloxidase Deficiency:

(show all 18)
# Title Authors Year
1
Congenital hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency type I in a Portuguese patient - Case report and review of literature. ( 30864636 )
2019
2
Novel mutations in the CYP11B2 gene causing aldosterone synthase deficiency. ( 26936515 )
2016
3
The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene. ( 24694176 )
2014
4
Aldosterone synthase deficiency type II with hypospadias. ( 22565077 )
2012
5
Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses. ( 20494601 )
2010
6
A novel CYP11B2 gene mutation in an Asian family with aldosterone synthase deficiency. ( 19116236 )
2009
7
Aldosterone synthase deficiency caused by a homozygous L451F mutation in the CYP11B2 gene. ( 18178501 )
2008
8
9alpha-Fluorohydrocortisone therapy in aldosterone synthase deficiency. ( 15782303 )
2005
9
Aldosterone synthase deficiency and related disorders. ( 15134805 )
2004
10
A particular phenotype in a girl with aldosterone synthase deficiency. ( 15240589 )
2004
11
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
12
A compound heterozygote case of type II aldosterone synthase deficiency. ( 12788848 )
2003
13
Aldosterone synthase deficiency type I with no documented homozygous mutations in the CYP11B2 gene. ( 11174838 )
2001
14
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. ( 11238478 )
2001
15
Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases. ( 10965212 )
1999
16
Homozygous deletion of arginine-173 in the CYP11B2 gene in a girl with congenital hypoaldosteronism. Corticosterone methyloxidase deficiency type II. ( 9838244 )
1998
17
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. ( 9814506 )
1998
18
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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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