Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 25/08/2006
Symbol OARH
Location 2p23.3
Name early-onset obesity, adrenal insufficiency and red hair pigmentation
Other name(s) proopiomelanocortin deficiency
Corresponding gene POMC
Main clinical features
  • early-onset obesity, red or red-brown hair and pale skin, and isolated ACTH deficiency manifesting in infancy with hypoglycemic seizures
  • Genetic determination
    Function/system disorder endocrinology
    metabolism/lipoprotein-lipid
    Type disease