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
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 30 of 36 in total
Gene ID Gene Symbol Description Source
8879 SGPL1 sphingosine-1-phosphate lyase 1
8897 MTMR3 myotubularin related protein 3
8898 MTMR2 myotubularin related protein 2
9107 MTMR6 myotubularin related protein 6
9108 MTMR7 myotubularin related protein 7
9110 MTMR4 myotubularin related protein 4
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
10855 HPSE heparanase
Displaying 1 entry
Gene ID Gene Symbol Description Source
33658 FIG4 FIG4 phosphoinositide 5-phosphatase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855392 FIG4 phosphatidylinositol-3,5-bisphosphate 5-phosphatase
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9Y286 Sialic acid-binding Ig-like lectin 7

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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