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Article

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.

Orphanet journal of rare diseases - 1 Dec 2010

Redaelli Chiara, Coleman Rosalind A, Moro Laura, Dacou-Voutetakis Catherine, Elsayed Solaf Mohamed, Prati Daniele, Colli Agostino, Mela Donatella, Colombo Roberto, Tavian Daniela

Abstract excerpt

BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplets in most tissues. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS). Mutations in ABHD5/CGI58 gene are...

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Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Ichthyosiform Erythroderma, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lipid Metabolism, Inborn Errors

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Source

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Identifiers

PMID: 21122093
DOI: 10.1186/1750-1172-5-33
PMCID: PMC3019207

Genes

ABHD5

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.PMID 21122093Read ↗

Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.Semantic proximity Read ↗

Identification of a homozygous mutation in the ABHD5 gene in two non-consanguineous Iranian-Azari Turkish families with Chanarin-Dorfman syndromeSemantic proximity Read ↗

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.Semantic proximity Read ↗

Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.Semantic proximity Read ↗

An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.Semantic proximity Read ↗

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.Semantic proximity Read ↗

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.Semantic proximity Read ↗

Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.Semantic proximity Read ↗

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.Semantic proximity Read ↗

Correction:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 geneSemantic proximity Read ↗

Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.Semantic proximity Read ↗

Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.Semantic proximity Read ↗

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