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Article

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.

Nature genetics - 1 Feb 2005

Metherell Louise A, Chapple J Paul, Cooray Sadani, David Alessia, Becker Christian, Rüschendorf Franz, Naville Danielle, Begeot Martine, Khoo Bernard, Nürnberg Peter, Huebner Angela, Cheetham Michael E, Clark Adrian J L

Abstract excerpt

Familial glucocorticoid deficiency (FGD), or hereditary unresponsiveness to adrenocorticotropin (ACTH; OMIM 202200), is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or...

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Identifiers

PMID: 15654338
DOI: 10.1038/ng1501

Genes

MRAP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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