Home Page
References OMIM Gene GeneReviews HGMD HGNC
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
    Genotype/Phenotype correlations CMO type II (MIM610600) is an allelic disorder with overlapping phenotype but distinct biochemical features