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
Disease Ontology
DOID:0050729
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
57104 PNPLA2 patatin like phospholipase domain containing 2
80339 PNPLA3 patatin like phospholipase domain containing 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
66853 Pnpla2 patatin-like phospholipase domain containing 2
116939 Pnpla3 patatin-like phospholipase domain containing 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
361676 Pnpla2 patatin-like phospholipase domain containing 2

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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: December 9, 2024