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Charcot-Marie-Tooth disease
Summary
- Synonym
-
- CMT - Charcot-Marie-Tooth disease
- Definition
- A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
- Super Class
- neuromuscular disease
External Links
- Disease Ontology
- DOID:10595
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 182 | JAG1 | jagged canonical Notch ligand 1 | |
| 3084 | NRG1 | neuregulin 1 | |
| 3710 | ITPR3 | inositol 1,4,5-trisphosphate receptor type 3 | |
| 4359 | MPZ | myelin protein zero | |
| 4747 | NEFL | neurofilament light chain | |
| 5376 | PMP22 | peripheral myelin protein 22 | |
| 9990 | SLC12A6 | solute carrier family 12 member 6 | |
| 10516 | FBLN5 | fibulin 5 | |
| 55703 | POLR3B | RNA polymerase III subunit B | |
| 57863 | CADM3 | cell adhesion molecule 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35206 | Mannosyl phosphorylinositol ceramide synthase regulatory protein CSG2 |
