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
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
2583 B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1
3897 L1CAM L1 cell adhesion molecule
4099 MAG myelin associated glycoprotein
5833 PCYT2 phosphate cytidylyltransferase 2, ethanolamine
8398 PLA2G6 phospholipase A2 group VI
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
9197 SLC33A1 solute carrier family 33 member 1
9420 CYP7B1 cytochrome P450 family 7 subfamily B member 1
10908 PNPLA6 patatin like phospholipase domain containing 6

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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: August 19, 2024