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GTR Home > Conditions/Phenotypes > Triglyceride storage disease with ichthyosis


Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with an nonbullous erythrodermic form of ichthyosis, with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al., 2001). [from OMIM]

Available tests

34 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: CGI58, IECN2, NCIE2, ABHD5
    Summary: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

Clinical features


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