Chanarin-Dorfman syndrome is an autosomal recessive disorder caused by mutations of the ABHD5 gene. Clinical presentation includes accumulation of long chain triglycerides and ichtiosis.
|Neutral lipid storage disease|
|Neutral lipid storage disease with ichtiosis|
|Neutral lipid storage disease with myopathy|
Lefèvre C et al. (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
Miranda A et al. () Lipid storage myopathy, ichthyosis, and steatorrhea.
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Musumeci S et al. (1988) Ichthyosis and neutral lipid storage disease.
Williams ML et al. (1985) Ichthyosis and neutral lipid storage disease.
Dorfman ML et al. (1974) Ichthyosiform dermatosis with systemic lipidosis.
Markesbery WR et al. (1974) Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes.
Rozenszajn L et al. (1966) Jordans' anomaly in white blood cells. Report of case.
Angelini C et al. (1980) Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.
Fischer J et al. (2000) Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.
EI-Kabbany Z et al. (2003) Dorfman-Chanarin syndrome in Egypt.
None (1953) The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).
Huigen MC et al. (2015) Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
OMIM.ORG articleOmim 275630
Wikipedia articleWikipedia EN (Neutral_lipid_storage_disease)