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Article

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

European journal of medical genetics - 1 Dec 2015

Jazayeri Omid, Liu Xuanzhu, van Diemen Cleo C, Bakker-van Waarde Willie M, Sikkema-Raddatz Birgit, Sinke Richard J, Zhang Jianguo, van Ravenswaaij-Arts Conny M A

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low levels of cortisol despite high adrenocorticotropin (ACTH) levels, due to the reduced ability of the adrenal cortex to produce cortisol in response to stimulation by ACTH. FGD is a heterogeneous disorder for which causal mutations have been identified in MC2R, MRAP, MCM4 and TXNRD2. Also mutations in STAR and CYP11A1...

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Share to Adrenal Insufficiency
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26548497
DOI: 10.1016/j.ejmg.2015.11.001

Genes

NNT
MRAP
MCM4
TXNRD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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