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Chanarin-Dorfman Syndrome MeSH Supplementary Concept Data 2024

MeSH Supplementary
Chanarin-Dorfman Syndrome
Unique ID
RDF Unique Identifier
Entry Term(s)
Chanarin-Dorfman disease
Dorfman Chanarin syndrome
Dorfman-Chanarin Syndrome
Ichthyosiform erythroderma with leukocyte vacuolation
Ichthyotic neutral lipid storage disease
Neutral Lipid Storage Disease With Ichthyosis
Neutral lipid storage myopathy
Triglyceride Storage Disease with Ichthyosis
Triglyceride storage disease with impaired long-chain fatty acid oxidation
Heading Mapped to
*Lipid Metabolism, Inborn Errors
*Muscular Diseases
*Ichthyosiform Erythroderma, Congenital
A rare hereditary autosomal recessive lipid storage syndrome that is more common in persons of Middle Eastern descent. It is characterized by the appearance of lipid droplets in GRANULOCYTES and a variety of symptoms in multiple organs, including congenital ICTHYOSIS; SENSORUNEURAL HEARING LOSS, ocular abnormalities, FATTY LIVER and HEPATOMEGALY; ATAXIA; MYOPATHY, and INTELLECTUAL DISABILITY. Mutations in the ABHD5 gene have been identied. OMIM: 275630
Date of Entry
Revision Date
Chanarin-Dorfman Syndrome Preferred
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