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GENATLAS PHENOTYPE

last update : 10/10/2008

Symbol	CMO1
Location	8q24.3
Name	corticosterone methyloxydase type I deficiency
Other name(s)	aldosterone deficiency due to defect in 18-hydroxylase CMO type I aldosterone synthase deficiency 1
Corresponding gene	CYP11B2
Other symbol(s)	FHHA1
Main clinical features	characterized by a salt losing syndrome, with aldosterone deficiency presented in early infancy with dehydration, failure to thrive, poor feeding, vomiting, and intermittent fever
Genetic determination	autosomal recessive
Function/system disorder	endocrinology
Type	disease

Remark(s)

Genotype/Phenotype correlations

CMO type II (MIM610600) is an allelic disorder with overlapping phenotype but distinct biochemical features