Corticosterone methyloxidase type I deficiency

Preferred Label : Corticosterone methyloxidase type I deficiency;

CISMeF acronym : FHHA1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Steroid 18-hydroxylase deficiency; Aldosterone deficiency I; 18-hydroxylase deficiency; FHHA1A; Cmo I deficiency; Hyperreninemic hypoaldosteronism, familial, 1; Aldosterone deficiency due to defect in steroid 18-hydroxylase;

Description : CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (610600), an allelic disorder with an overlapping phenotype but distinct biochemical features. 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cytochrome p450 subfamily XIB, polypeptide 2 gene (CYP11B2, 124080.0002);

Laboratory abnormalities : Decreased serum aldosterone; Increased serum corticosterone; Increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-OHB); Decreased serum 18-OHB; Hyponatremia; Hyperkalemia; Increased serum renin; Normal urinary 17-ketosteroids;

Prefixed ID : #203400;

Détails

Origin ID

203400;

UMLS CUI

C0268293;

Automatic exact mappings (from CISMeF team)
- Familial hypoaldosteronism [ORDO Disease]
Currated CISMeF NLP mapping
- 18-Hydroxylase deficiency [MeSH concept]
- 18-Hydroxylase deficiency [MeSH Supplementary Concept]
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
- corticosterone 18-monooxygenase deficiency [SNOMED Notion]
DO Cross reference
- corticosterone methyloxidase deficiency 1 [DO Concept]
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]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Growth delay [HPO term]
- Hyperkalemia [HPO term]
- Hypoaldosteronism [HPO term]
- Hyponatremia [HPO term]
- Hypotension [HPO term]
- Increased circulating renin level [HPO term]
- Neonatal onset [HPO term]
- Recurrent fever [HPO term]
- Renal salt wasting [HPO term]
- Vomiting [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-Hydroxylase deficiency [MeSH Supplementary Concept]
- 18-Hydroxylase deficiency [MeSH concept]
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
- corticosterone 18-monooxygenase deficiency [SNOMED Notion]
Validated automatic mappings to NTBT
- corticosterone methyloxidase deficiency [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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