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 9 free, full-text research articles on human participants. First 3 results:

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

Author(s): P M Tamhankar, S Iyer, S Sanghavi, U Khopkar

Journal: J Postgrad Med. ;60(3):332-4.

 

Chanarin-Dorfman syndrome (CDS) is a multisystem, autosomal recessive genetic disorder characterized by congenital non-bullous ichthyosiform erythroderma with accumulation of lipid droplets in granulocytes and basal keratinocytes. An 18-month-old female child presented with typical ...

Last Updated: 15 Aug 2014

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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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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

Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
 

Status: Recruiting

Condition Summary: Metabolism, Inborn Errors; Lipid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency; Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV); Carnitine Palmitoyl Transferase 2 Deficiency; VLCAD Deficiency; Medium-chain Acyl-CoA Dehydrogenase Deficiency; Multiple Acyl-CoA Dehydrogenase Deficiency; Carnitine Transporter Deficiency; Neutral Lipid Storage Disease; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Muscle Phosphofructokinase Deficiency; Phosphoglucomutase 1 Deficiency; Phosphoglycerate Mutase Deficiency; Phosphoglycerate Kinase Deficiency; Phosphorylase Kinase Deficiency; Beta Enolase Deficiency; Lactate Dehydrogenase Deficiency; Glycogen Synthase Deficiency

 

Last Updated: 5 Apr 2016

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Clinical Trial in Infants With Rapidly Progressive Lysosomal Acid Lipase Deficiency
 

Status: Recruiting

Condition Summary: Lysosomal Acid Lipase Deficiency

 

Last Updated: 21 Apr 2016

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