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Article

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

The British journal of dermatology - 1 Jun 2011

Samuelov L, Fuchs-Telem D, Sarig O, Sprecher E

Abstract excerpt

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder featuring congenital ichthyosis combined with pleiomorphic visceral manifestations associated with tissue accumulation of cytoplasmic lipid droplets. Mutations in the ABHD5 gene, encoding a crucial cofactor for adipose triglyceride lipase, have been found to underlie all CDS cases reported to date. The purposed of this study was to...

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Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ichthyosiform Erythroderma, Congenital

Share to Lipid Metabolism, Inborn Errors

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Share to Mutagenesis, Insertional

Source

Identifiers

PMID: 21332462
DOI: 10.1111/j.1365-2133.2011.10252.x

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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An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.PMID 21332462Read ↗

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

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

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

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

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 ↗

[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome].Semantic proximity Read ↗

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.Semantic proximity Read ↗

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

Clinical and genetic characterization of Chanarin-Dorfman syndrome.Semantic proximity Read ↗

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