Chanarin-Dorfman Syndrome

Common Name(s)

Chanarin-Dorfman Syndrome, Triglyceride storage disease with ichthyosis

Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides. These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver,cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. This condition is caused by mutations in the ABHD5 gene and is inherited in an autosomal recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Chanarin-Dorfman Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Chanarin-Dorfman Syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

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

Author(s): Sara Missaglia, Eugenia Ribeiro Valadares, Laura Moro, Eleonora Druve Tavares Faguntes, Raquel Quintão Roque, Bruno Giardina, Daniela Tavian

Journal:

 

α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated ...

Last Updated: 20 Mar 2014

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

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

Journal:

 

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, ...

Last Updated: 12 Jan 2011

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CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
 

Author(s): Ananda K Ghosh, Geetha Ramakrishnan, Chitraju Chandramohan, Ram Rajasekharan

Journal: J. Biol. Chem.. 2008 Sep;283(36):24525-33.

 

cgi-58 (comparative gene identification-58) is a member of alpha/beta-hydrolase family of proteins. Mutations in CGI-58 are shown to be responsible for a rare genetic disorder known as Chanarin-Dorfman syndrome, characterized by an excessive accumulation of triacylglycerol in several ...

Last Updated: 1 Sep 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Chanarin-Dorfman Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
 

Status: Recruiting

Condition Summary: Lysosomal Acid Lipase Deficiency

 

Last Updated: 16 Jul 2014

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