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
|