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Charcot-Marie-Tooth disease type 3
Summary
- Synonym
-
- DEJERINE-SOTTAS NEUROPATHY
- DEJERINE-SOTTAS SYNDROME
- Definition
- A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
- Super Class
- Charcot-Marie-Tooth disease autosomal dominant disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0050540
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 2877 | GPX2 | glutathione peroxidase 2 | |
| 4051 | CYP4F3 | cytochrome P450 family 4 subfamily F member 3 | |
| 5332 | PLCB4 | phospholipase C beta 4 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10855 | HPSE | heparanase | |
| 23175 | LPIN1 | lipin 1 | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase |
Related Glycoprotein
