Corticosterone Methyloxidase Type Ii Deficiency

Description

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 (OMIM ), 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).

Clinical Features

Top most frequent phenotypes and symptoms related to Corticosterone Methyloxidase Type Ii Deficiency

  • Growth delay
  • Failure to thrive
  • Acidosis
  • Metabolic acidosis
  • Dehydration
  • Failure to thrive in infancy
  • Hyponatremia
  • Hyperkalemia
  • Orthostatic hypotension
  • Severe failure to thrive

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Corticosterone Methyloxidase Type Ii Deficiency Is also known as cmo ii deficiency, steroid 18-oxidase deficiency, 18-oxidase deficiency, fhha1b, aldosterone deficiency due to deficiency of steroid 18-oxidase, hyperreninemic hypoaldosteronism, familial, 1, aldosterone deficiency ii.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Corticosterone Methyloxidase Type Ii Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Hypoaldosteronism, congenital, due to CMO I / II deficiency.

By Human Genetics University Hospital Bern (Switzerland).

CYP11B2
Specificity
100 %
Genes
100 %
CYP11B2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CYP11B2
Specificity
100 %
Genes
100 %
Familial hyperaldosteronism type 1 (sequence analysis of CYP11B2 gene).

By CGC Genetics (Portugal).

CYP11B2
Specificity
100 %
Genes
100 %
Hyperaldosteronism (deletion/duplication analysis on CYP11B2 gene).

By CGC Genetics (Portugal).

CYP11B2
Specificity
100 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 %
Pseudohypoaldosteronism (NGS panel of 9 genes).

By CGC Genetics (Portugal).

SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4, CUL3, CYP11B2, KLHL3, NR3C2
Specificity
12 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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