familial glucocorticoid deficiency

Etiology

• congenital insensitivity or resistance to ACTH (type 1)

Pathology

• progressive primary adrenal insufficiency, without mineralocorticoid deficiency (type 1)

Genetics

• autosomal recessive
• associated with defects in MRAP gene (type 1)
• associated with defects in MC2R (type 1)

More general terms

• glucocorticoid deficiency
• genetic disease of the endocrine system

Additional terms

• adrenal insufficiency
• glucocorticoid

Database

• OMIM: https://mirror.omim.org/entry/202200