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

Triglyceride storage disease with ichthyosis

Synonyms
Chanarin-Dorfman Syndrome; Disorder of cornification 12 (neutral lipid storage type); Dorfman-Chanarin disease; Ichthyosiform erythroderma with leukocyte vacuolation; Neutral lipid storage disease with ichthyotic; Triglyceride storage disease with impaired long-chain fatty acid oxidation
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with a nonbullous erythrodermic form of ichthyosis (NCIE; see 242300) 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). Another form of neutral lipid storage disease without ichthyosis but with myopathy (NLSDM; 610717) is caused by mutation in the PNPLA2 gene (609059). [from OMIM]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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