MCID: HYP321
MIFTS: 24

Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency

Categories: Genetic diseases, Endocrine diseases, Rare diseases

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

MalaCards integrated aliases for Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency:

Name: Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency 54 13
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
Corticosterone Methyloxidase Type 2 Deficiency 29
Familial Hyperreninemic Hypoaldosteronism 1 24
Corticosterone Methyloxidase 2 Deficiency 71
Aldosterone Synthase Deficiency 56
Steroid 18-Oxidase Deficiency 24
Aldosterone Deficiency Ii 24
18-Hydroxylase Deficiency 56
Cmo Ii Deficiency 24
Cmo-2 Deficiency 71
Fhha1b 24
Cmo Ii 56
Cmo I 56
Fhha1 56

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in neonatal period
infants may have acute life-threatening crises
symptoms ameliorate with age
adults may be asymptomatic
increased frequency among jewish iranian individuals from isfahan
allelic disorder to corticosterone methyloxidase type i deficiency


HPO:

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


Classifications:

Orphanet: 56  
Rare endocrine diseases


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 aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (204300), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998). (610600)

MalaCards based summary : Hypoaldosteronism, Congenital, Due to Cmo Ii Deficiency, also known as 18-oxidase deficiency, is related to corticosterone methyloxidase deficiency and hypoaldosteronism, congenital, due to cmo i deficiency, and has symptoms including failure to thrive, renal salt wasting and hyponatremia. 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 : 71 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 corticosterone methyloxidase deficiency 11.0
2 hypoaldosteronism, congenital, due to cmo i deficiency 11.0

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

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
growth retardation

Genitourinary- Kidneys:
salt wasting

Cardiovascular- Vascular:
postural hypotension

Laboratory- Abnormalities:
hyponatremia
hyperkalemia
decreased serum aldosterone
increased serum 18-hydroxycorticosterone (18-ohb)
increased 18-ohb to aldosterone ratio
more
Metabolic Features:
dehydration

Endocrine Features:
hypoaldosteronism


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 renal salt wasting 32 HP:0000127
3 hyponatremia 32 HP:0002902
4 hyperkalemia 32 HP:0002153
5 dehydration 32 HP:0001944
6 orthostatic hypotension 32 HP:0001278
7 growth delay 32 HP:0001510
8 increased circulating renin level 32 HP:0000848
9 decreased circulating aldosterone level 32 HP:0004319

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:

71
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
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28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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42 MeSH
43 MESH via Orphanet
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51 NINDS
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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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