Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

Clinical endocrinology - 1 May 2010

Chung Teng-Teng L L, Chan Li F, Metherell Louise A, Clark Adrian J L

Abstract excerpt

CONTEXT: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory protein (MRAP)]. The disorder is known as FGD type 1 and 2, respectively. OBJECTIVE: The aim of the study was to compare the phenotype/genotype relationships between...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenocorticotropic Hormone
Share to Body Height
Share to Family Health

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Genetic Diseases, Inborn

Share to Glucocorticoids

Share to Hydrocortisone

Share to RNA Splice Sites

Source

Open in PubMed Open full text

Identifiers

PMID: 19558534
DOI: 10.1111/j.1365-2265.2009.03663.x
PMCID: PMC2855830

Genes

MRAP
SDS

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.PMID 19558534Read ↗

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 ↗

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.Semantic proximity Read ↗

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

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 ↗

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

The genetics of ACTH resistance syndromes.Semantic proximity Read ↗

A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.Semantic proximity Read ↗

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

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.