Corticosterone methyloxidase type II deficiency

Preferred Label : Corticosterone methyloxidase type II deficiency;

CISMeF acronym : FHHA1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aldosterone deficiency II; FHHA1B; Steroid 18-oxidase deficiency; Aldosterone deficiency due to deficiency of steroid 18-oxidase; 18-oxidase deficiency; Cmo II deficiency; Hyperreninemic hypoaldosteronism, familial, 1;

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 (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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome P450, subfamily XIB, polypeptide 2 gene (CYP11B2, 124080.0001);

Laboratory abnormalities : Decreased serum aldosterone; Increased serum 18-hydroxycorticosterone (18-OHB); Increased 18-OHB to aldosterone ratio; Increased serum renin; Hyponatremia; Hyperkalemia;

Prefixed ID : #610600;

Details

Origin ID

610600;

UMLS CUI

C3463917;

Automatic exact mappings (from CISMeF team)
- 18-Hydroxylase deficiency [MeSH Supplementary Concept]
- 18-hydroxycorticosterone dehydrogenase deficiency [SNOMED Notion]
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
- Familial hypoaldosteronism [ORDO Disease]
Genes related to phenotype
- Cytochrome p450, subfamily xib, polypeptide 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased circulating aldosterone level [HPO term]
- Dehydration [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Hyperkalemia [HPO term]
- Hypoaldosteronism [HPO term]
- Hyponatremia [HPO term]
- Increased circulating 18-hydroxycortisone level [HPO term]
- Increased circulating corticosterone level [HPO term]
- Increased circulating renin level [HPO term]
- Neonatal onset [HPO term]
- Orthostatic hypotension [HPO term]
- Renal salt wasting [HPO term]
ORDO concept(s)
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
- Familial hypoaldosteronism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 18-hydroxycorticosterone dehydrogenase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- corticosterone methyloxidase deficiency [Disease (Nov.)]

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