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Glucocorticoid deficiency 1; GCCD1

Disease ID:352
Name:Glucocorticoid deficiency 1; GCCD1
Associated with:1 target
Familial glucocorticoid deficiency
Database Links
OMIM: 202200
Orphanet: ORPHA361


MC2 receptor
Comments:  Homozygous and compound heterozygous missense and nonsense mutations of the human MC2 receptor resulting in ACTH insensitivity and the rare disorder isolated glucocorticoid deficiency.
References:  1


No ligand related data available for Glucocorticoid deficiency 1; GCCD1


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1. Clark AJ, McLoughlin L, Grossman A. (1993) Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet, 341 (8843): 461-2. [PMID:8094489]