Chanarin-Dorfman Syndrome [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536560
Heading Mapped to:
Entry Terms:
- Neutral lipid storage myopathy
- Ichthyotic neutral lipid storage disease
- Chanarin-Dorfman disease
- Ichthyosiform erythroderma with leukocyte vacuolation
- Dorfman Chanarin syndrome
- Dorfman-Chanarin Syndrome
- Neutral Lipid Storage Disease With Ichthyosis
- Triglyceride storage disease with impaired long-chain fatty acid oxidation
- Triglyceride Storage Disease with Ichthyosis