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 31 - 36 of 36 in total
Gene ID Gene Symbol Description Source
23175 LPIN1 lipin 1
23600 AMACR alpha-methylacyl-CoA racemase
27036 SIGLEC7 sialic acid binding Ig like lectin 7
51196 PLCE1 phospholipase C epsilon 1
55613 MTMR8 myotubularin related protein 8
84649 DGAT2 diacylglycerol O-acyltransferase 2
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