Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 12-11-2014
Symbol HADC
Location 18p11.21
Name hypoadrenocorticism, familial
Other name(s)
  • Addison disease
  • adrenal hypoplasia
  • glucocorticoid deficiency, due to ACTH unresponsiveness
  • Corresponding gene MC2R
    Other symbol(s) MCR2, MC2R, GCCD1
    Main clinical features
  • ACTH resistant adrenal insufficiency and glucocorticoid deficiency, characterized by failure to thrive, weakness and fatigue or adrenal crisis
  • resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name melanocortin receptor (MC2R)
    Remark(s)