proopiomelanocortin deficiency

proopiomelanocortin deficiency

A hereditary condition (OMIM:609734) characterised by early-onset obesity, adrenal insufficiency (ACTH deficiency) and red hair.

Molecular pathology
Defects of POMC, which encodes proopiomelanocortin, cause proopiomelanocortin deficiency.
References in periodicals archive ?
Proopiomelanocortin Deficiency Treated with a Melanocortin-4 Receptor Agonist.
Recently, setmelanotide, a MC4R agonist, was shown to be effective in treatment of patients with proopiomelanocortin deficiency (9).