Chanarin-Dorfman syndrome

Summary
Synonym
  • neutral lipid storage disease
Definition
A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.
Super Class
lipid storage disease
External Links
Disease Ontology
DOID:0050729
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
1376 CPT2 carnitine palmitoyltransferase 2
8694 DGAT1 diacylglycerol O-acyltransferase 1
9663 LPIN2 lipin 2
10400 PEMT phosphatidylethanolamine N-methyltransferase
55750 AGK acylglycerol kinase
57104 PNPLA2 patatin like phospholipase domain containing 2
80339 PNPLA3 patatin like phospholipase domain containing 3
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024