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Article

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Hormone research - 1 Jan 2008

Chan L F, Clark A J L, Metherell L A

Abstract excerpt

Familial glucocorticoid deficiency (FGD), otherwise known as hereditary unresponsiveness to ACTH, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Mutations of the ACTH receptor, also known as the melanocortin-2 receptor (MC2R), account for approximately 25% of FGD cases. More recently a second gene, MRAP (melanocortin-2 receptor...

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Source

Identifiers

PMID: 18059087
DOI: 10.1159/000111810

Genes

MRAP

Provenance

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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Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.PMID 18059087Read ↗

The genetics of ACTH resistance syndromes.Semantic proximity Read ↗

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

Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2Semantic proximity Read ↗

Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.Semantic proximity Read ↗

The Majority of Adrenocorticotropin Receptor (Melanocortin 2 Receptor) Mutations Found in Familial Glucocorticoid Deficiency Type 1 Lead to Defective Trafficking of the Receptor to the Cell SurfaceSemantic proximity Read ↗

Novel Mutations in the MC2R Gene in a Patient With Familial Glucocorticoid Deficiency (FGD): A Case Report and Functional Study.Semantic proximity Read ↗

Pathophysiology of melanocortin receptors and their accessory proteins.Semantic proximity Read ↗

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.Semantic proximity Read ↗

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.Semantic proximity Read ↗

ACTH resistance syndromes.Semantic proximity Read ↗

A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.Semantic proximity Read ↗

A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid DeficiencySemantic proximity Read ↗

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