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Chanarin-Dorfman Syndrome MeSH Supplementary Concept Data 2022


MeSH Supplementary
Chanarin-Dorfman Syndrome
Unique ID
C536560
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536560
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
Registry Number
0
Heading Mapped to
*Lipid Metabolism, Inborn Errors
*Muscular Diseases
*Ichthyosiform Erythroderma, Congenital
Frequency
71
Note
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
2010/08/25
Revision Date
2015/08/18
Chanarin-Dorfman Syndrome Preferred
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