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Article

Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.

Clinics and research in hepatology and gastroenterology - 1 Apr 2012

Cakmak E, Alagozlu H, Yonem O, Ataseven H, Citli S, Ozer H

Abstract excerpt

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive neutral lipid storage disease. It is very rare and characterized by ichtiosis, intracellular fat droplets in leucocytes (Jordan anomaly) and involvement of multiple tissues (skeletal muscle, central nervous system, bone marrow, eye and ear) mainly the liver. Our patients were diagnosed as CDS because they had ichtiosis, Jordon anomaly of leucocytes in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22245374
DOI: 10.1016/j.clinre.2011.12.007

Genes

ABHD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.PMID 22245374Read ↗

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

Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.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 ↗

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

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Clinical and genetic characterization of Chanarin-Dorfman syndrome.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 ↗

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

Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.Semantic proximity Read ↗

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

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