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

Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome.
 

Author(s): Salma Ben Ameur, Hajer Aloulou, Manel Wali, Sofiène Alibi, Mourad Chaari, Choumous Kallel, Thouraya Kamoun, Mongia Hachicha

Journal: Tunis Med. 2015 Jul;93(7):482-3.

 

Last Updated: 13 Jan 2016

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Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.
 

Author(s): Aysel Ünlüsoy-Aksu, Sinan Sarı, Ödül Eğritaş-Gürkan, Buket Dalgıç

Journal: Turk. J. Pediatr.. ;57(3):300-3.

 

Chanarin-Dorfman syndrome (CDS) is an autosomal recessive disorder, characterized by intracellular accumulation of lipid droplets in most tissues. It is very difficult to find a correlation between the phenotypic and genotypic features due to the occurrence of novel ABHD5 [ α/β ...

Last Updated: 24 Dec 2015

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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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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

International Registry Study of Neutral Lipid Storage Disease and Related Diseases
 

Status: Recruiting

Condition Summary: Neutral Lipid Storage Disease

 

Last Updated: 26 Sep 2016

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Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
 

Status: Recruiting

Condition Summary: Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV); Neutral Lipid Storage Disease With Myopathy (NLSD-M)

 

Last Updated: 18 Jul 2016

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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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