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;
Origin ID : 203400;
UMLS CUI : C0268293;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT