Glucocorticoid deficiency 1

Glucocorticoid deficiency 1, also written GCCD1 or FGD type 1, is an inherited form of adrenocortical failure in which the adrenal gland makes too little cortisol even though plasma ACTH is high. It is the first of several types of familial glucocorticoid deficiency that are defined by their cause. Type 1 is caused by mutations in the ACTH receptor, the melanocortin 2 receptor encoded by MC2R, and type 2 by mutations in its accessory protein MRAP; together these two types account for 45 percent of all cases. Type 3 includes some cases due to the StAR gene, which resembles nonclassic lipoid congenital adrenal hyperplasia and can also affect sexual development and fertility. The article lists OMIM entry 202200 for this type.