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Charcot-Marie-Tooth disease type 5
Summary
- Synonym
-
- hereditary motor and sensory neuropathy with pyramidal features
- Definition
- A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait.
- Super Class
- Charcot-Marie-Tooth disease autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080067
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 51302 | CYP39A1 | cytochrome P450 family 39 subfamily A member 1 | |
| 57704 | GBA2 | glucosylceramidase beta 2 | |
| 84188 | FAR1 | fatty acyl-CoA reductase 1 | |
| 85465 | SELENOI | selenoprotein I | |
| 113612 | CYP2U1 | cytochrome P450 family 2 subfamily U member 1 |
Related Glycoprotein
