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 | ||||
ABHD5 | ||||
Neutral lipid storage disease with myopathy | ||||
1. |
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. |
2. |
Miranda A et al. () Lipid storage myopathy, ichthyosis, and steatorrhea. |
3. |
Chanarin I et al. (1975) Neutral-lipid storage disease: a new disorder of lipid metabolism. |
4. |
Musumeci S et al. (1988) Ichthyosis and neutral lipid storage disease. |
5. |
Williams ML et al. (1985) Ichthyosis and neutral lipid storage disease. |
6. |
Dorfman ML et al. (1974) Ichthyosiform dermatosis with systemic lipidosis. |
7. |
Markesbery WR et al. (1974) Muscle carnitine deficiency. Association with lipid myopathy, vacuolar neuropathy, and vacuolated leukocytes. |
8. |
Rozenszajn L et al. (1966) Jordans' anomaly in white blood cells. Report of case. |
9. |
Angelini C et al. (1980) Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. |
10. |
Fischer J et al. (2000) Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. |
11. |
EI-Kabbany Z et al. (2003) Dorfman-Chanarin syndrome in Egypt. |
12. |
None (1953) The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.). |
13. |
Huigen MC et al. (2015) Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. |
14. |
OMIM.ORG article Omim 275630 |
15. |
Wikipedia article Wikipedia EN (Neutral_lipid_storage_disease) |