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 11 - 20 of 36 in total
Gene ID Gene Symbol Description Source
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
4099 MAG myelin associated glycoprotein
4534 MTM1 myotubularin 1
5230 PGK1 phosphoglycerate kinase 1
5236 PGM1 phosphoglucomutase 1
5332 PLCB4 phospholipase C beta 4
5621 PRNP prion protein (Kanno blood group)
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
8776 MTMR1 myotubularin related protein 1
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