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corticosterone methyloxidase type 2 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18-hydroxycorticosterone in serum.
Mondo Term and Equivalent IDs
MONDO:0012524:  corticosterone methyloxidase type 2 deficiency
UMLS:C3463917: