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Article

COG5-CDG: expanding the clinical spectrum.

Orphanet journal of rare diseases - 10 Dec 2012

Rymen Daisy, Keldermans Liesbeth, Race Valérie, Régal Luc, Deconinck Nicolas, Dionisi-Vici Carlo, Fung Cheuk-Wing, Sturiale Luisa, Rosnoblet Claire, Foulquier François, Matthijs Gert, Jaeken Jaak

Abstract excerpt

BACKGROUND: The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of Golgi components, thereby affecting the localization of Golgi glycosyltransferases. Deficiency of a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders of Glycosylation (CDG). Mutations in subunits 1, 4, 5, 6, 7 and 8 have been associated with CDG-II. The first patient with...

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Share to Adaptor Proteins, Vesicular Transport
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23228021
DOI: 10.1186/1750-1172-7-94
PMCID: PMC3697985

Genes

COG5
COG7

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.

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COG5-CDG: expanding the clinical spectrum.PMID 23228021Read ↗

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.Semantic proximity Read ↗

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of GlycosylationSemantic proximity Read ↗

Key features and clinical variability of COG6-CDG.Semantic proximity Read ↗

Identification of the first COG-CDG patient of Indian origin.Semantic proximity Read ↗

Golgi function and dysfunction in the first COG4-deficient CDG type II patientSemantic proximity Read ↗

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.Semantic proximity Read ↗

Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review.Semantic proximity Read ↗

COG8 deficiency causes new congenital disorder of glycosylation type IIh.Semantic proximity Read ↗

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.Semantic proximity Read ↗

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.Semantic proximity Read ↗

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.Semantic proximity Read ↗

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.Semantic proximity Read ↗

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