" /> Chanarin-dorfman syndrome - CISMeF





Preferred Label : Chanarin-dorfman syndrome;

Symbol : CDS;

CISMeF acronym : CDS; DCS; NLSDI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyotic neutral lipid storage disease; NLSDI; Ichthyosiform erythroderma with leukocyte vacuolation; DCS; Dorfman-chanarin syndrome; Neutral lipid storage disease with ichthyosis; Chanarin-dorfman disease; Triglyceride storage disease with impaired long-chain fatty acid oxidation;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the abhydrolase domain containing-5, lysophosphatidic acid acyltransferase gene (ABHD5, 604780.0001);

Prefixed ID : #275630;

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30/07/2025


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