CMO-2 DEFICIENCY
MCID: HYP321
MIFTS: 22

Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency (CMO-2 DEFICIENCY) malady

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Aliases & Descriptions for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency:

Name: Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency 54 13
Corticosterone Methyloxidase 2 Deficiency 66 29
18-Oxidase Deficiency 24 56
Aldosterone Deficiency Due to Deficiency of Steroid 18-Oxidase 24
Familial Hyperreninemic Hypoaldosteronism Type 1 56
Corticosterone Methyl Oxidase Type Ii Deficiency 69
Corticosterone Methyloxidase Type Ii Deficiency 24
Corticosterone Methyl Oxidase Type I Deficiency 69
Corticosterone Methyloxidase Deficiency Type I 56
Familial Hyperreninemic Hypoaldosteronism 1 24
Aldosterone Synthase Deficiency 56
Steroid 18-Oxidase Deficiency 24
Aldosterone Deficiency Ii 24
18-Hydroxylase Deficiency 56
Cmo Ii Deficiency 24
Cmo-2 Deficiency 66
Fhha1b 24
Cmo Ii 56
Cmo I 56
Fhha1 56

Characteristics:

HPO:

32
hypoaldosteronism, congenital, due to cmo ii deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 610600
Orphanet 56 ORPHA99763
ICD10 via Orphanet 34 E27.4

Summaries for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

OMIM : 54 CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of... (610600) more...

MalaCards based summary : Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency, also known as corticosterone methyloxidase 2 deficiency, is related to hypoaldosteronism, congenital, due to cmo i deficiency and corticosterone methyloxidase deficiency, and has symptoms including failure to thrive, dehydration and growth delay. An important gene associated with Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency is CYP11B2 (Cytochrome P450 Family 11 Subfamily B Member 2).

UniProtKB/Swiss-Prot : 66 Corticosterone methyloxidase 2 deficiency: Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum.

Related Diseases for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Diseases related to Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hypoaldosteronism, congenital, due to cmo i deficiency 11.0
2 corticosterone methyloxidase deficiency 11.0

Symptoms & Phenotypes for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Symptoms by clinical synopsis from OMIM:

610600

Clinical features from OMIM:

610600

Human phenotypes related to Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 dehydration 32 HP:0001944
3 growth delay 32 HP:0001510
4 hyponatremia 32 HP:0002902
5 renal salt wasting 32 HP:0000127
6 increased circulating renin level 32 HP:0000848
7 hyperkalemia 32 HP:0002153
8 decreased circulating aldosterone level 32 HP:0004319
9 orthostatic hypotension 32 HP:0001278

UMLS symptoms related to Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency:


vomiting

Drugs & Therapeutics for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Search Clinical Trials , NIH Clinical Center for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Genetic Tests for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Genetic tests related to Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency:

id Genetic test Affiliating Genes
1 Corticosterone Methyloxidase Type 2 Deficiency 29
2 Corticosterone Methyloxidase Type Ii Deficiency 24 CYP11B2

Anatomical Context for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Publications for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Variations for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency:

66
id Symbol AA change Variation ID SNP ID
1 CYP11B2 p.Arg181Trp VAR_001267 rs28931609
2 CYP11B2 p.Glu198Asp VAR_001268 rs104894072
3 CYP11B2 p.Val386Ala VAR_001269 rs61757294
4 CYP11B2 p.Thr185Ile VAR_018471 rs121912978
5 CYP11B2 p.Thr498Ala VAR_018473 rs72554626

ClinVar genetic disease variations for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B2 CYP11B2, 5-BP DEL deletion Pathogenic
2 CYP11B2 NM_000498.3(CYP11B2): c.1382T> C (p.Leu461Pro) single nucleotide variant Pathogenic rs72554627 GRCh37 Chromosome 8, 143993962: 143993962
3 CYP11B2 NM_000498.3(CYP11B2): c.763G> T (p.Glu255Ter) single nucleotide variant Pathogenic rs121912977 GRCh37 Chromosome 8, 143996157: 143996157
4 CYP11B2 NM_000498.3(CYP11B2): c.554C> T (p.Thr185Ile) single nucleotide variant Pathogenic rs121912978 GRCh37 Chromosome 8, 143996503: 143996503
5 CYP11B2 CYP11B2, 6-BP DUP, CODON 143 duplication Pathogenic
6 CYP11B2 NM_000498.3(CYP11B2): c.1492A> G (p.Thr498Ala) single nucleotide variant Pathogenic rs72554626 GRCh37 Chromosome 8, 143993416: 143993416
7 CYP11B2 NM_000498.3(CYP11B2): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs121912979 GRCh37 Chromosome 8, 143995820: 143995820

Expression for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Search GEO for disease gene expression data for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency.

Pathways for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

GO Terms for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Sources for Hypoaldosteronism, Congenital, Due to Cmo Ii 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
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59 PubMed
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65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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