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Article

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2011

Aza-Carmona Miriam, Barreda-Bonis Ana Coral, Guerrero-Fernández Julio, González-Casado Isabel, Gracia Ricardo, Heath Karen E

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency. Mutations in the ACTH receptor (melanocortin 2 receptor, MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 and 2, respectively. A 2-year-old adopted Chinese girl presented with hypertonic seizures associated with hypoglycemia, skin hyperpigmentation, muscle weakness and...

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Source

Identifiers

PMID: 21823545
DOI: 10.1515/jpem.2011.024

Genes

MRAP

Variants

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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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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 ↗

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