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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| 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
| UniProt ID | Protein Name | Source |
|---|---|---|
| P23786 | Carnitine O-palmitoyltransferase 2, mitochondrial | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 |
