MeSH Browser

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: 75
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 MeSH Supplementary Concept Data 2024