Chanarin-Dorfman Syndrome

About the Disease
Chanarin-Dorfman Syndrome, also known as neutral lipid storage disease, is related to ichthyosis and autosomal recessive congenital 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 Lipid Regulating Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related phenotypes are progressive proximal muscle weakness and congenital nonbullous ichthyosiform erythroderma

Common Targets
PNPLA2 | ABHD5

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