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Article

Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation.

The Journal of clinical endocrinology and metabolism - 1 Oct 2006

Modan-Moses Dalit, Ben-Zeev Bruria, Hoffmann Chen, Falik-Zaccai Tzipora C, Bental Yoram A, Pinhas-Hamiel Orit, Anikster Yair

Abstract excerpt

CONTEXT: Mutations in MRAP, an interacting partner of the ACTH receptor, have been shown recently to cause familial glucocorticoid deficiency (FGD) in kindreds with confirmed FGD and no ACTH receptor mutations. OBJECTIVE: We describe a Jewish-Ethiopian family with FGD caused by a novel MRAP mutation. PATIENTS: Our index patient presented at the age of 19 months with hypocortisolism, severe psychomotor...

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Source

Identifiers

PMID: 16868047
DOI: 10.1210/jc.2006-0687

Genes

MRAP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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