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
Disease Ontology
DOID:10595
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 27 of 27 in total
Gene ID Gene Symbol Description Source
10516 FBLN5 fibulin 5
55613 MTMR8 myotubularin related protein 8
55703 POLR3B RNA polymerase III subunit B
57505 AARS2 alanyl-tRNA synthetase 2, mitochondrial
57863 CADM3 cell adhesion molecule 3
89846 FGD3 FYVE, RhoGEF and PH domain containing 3
653689 GSTT2B glutathione S-transferase theta 2B
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
107723 Slc12a6 solute carrier family 12, member 6
210376 Mtmr9 myotubularin related protein 9
234734 Aars1 alanyl-tRNA synthetase 1
Displaying all 7 entries
Gene ID Gene Symbol Description Source
24564 Mpz myelin protein zero
24660 Pmp22 peripheral myelin protein 22
25341 Tnfrsf11b TNF receptor superfamily member 11B
29146 Jag1 jagged canonical Notch ligand 1
29158 Fbln5 fibulin 5
83613 Nefl neurofilament light chain
360882 Cadm3 cell adhesion molecule 3
Displaying all 3 entries
Gene ID Gene Symbol Description Source
33658 FIG4 FIG4 phosphoinositide 5-phosphatase
38657 vn vein
43275 Ser Serrate
Displaying 1 entry
Gene ID Gene Symbol Description Source
140421 jag1a jagged canonical Notch ligand 1a
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
780198 mpz myelin protein zero Xenopus tropicalis (tropical clawed frog)
100037196 mpz.S myelin protein zero S homeolog Xenopus laevis (African clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851888 DPL1 sphinganine-1-phosphate aldolase DPL1
852324 CSG2 mannosylinositol phosphorylceramide synthase regulatory subunit
855392 FIG4 phosphatidylinositol-3,5-bisphosphate 5-phosphatase

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024