Chanarin-Dorfman Syndrome (CDS)

Chanarin-Dorfman Syndrome, also known as neutral lipid storage disease, is related to ichthyosis, congenital, autosomal recessive 1 and ichthyosis, and has symptoms including ataxia and muscle weakness. An important gene associated with Chanarin-Dorfman Syndrome is ABHD5 (Abhydrolase Domain Containing 5, Lysophosphatidic Acid Acyltransferase), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. The drugs Bezafibrate and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are progressive proximal muscle weakness and congenital nonbullous ichthyosiform erythroderma