Charcot-Marie-Tooth disease type 2

Summary
Synonym
  • hereditary motor and sensory neuropathy Guadalajara neuronal type
  • hereditary motor and sensory neuropathy Okinawa type
  • hereditary motor and sensory neuropathy type 2
Definition
A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
Super Class
Charcot-Marie-Tooth disease
External Links
Disease Ontology
DOID:0050539
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying entries 11 - 20 of 21 in total
Gene ID Gene Symbol Description Source
5230 PGK1 phosphoglycerate kinase 1
5236 PGM1 phosphoglucomutase 1
5621 PRNP prion protein (Kanno blood group)
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
8898 MTMR2 myotubularin related protein 2
9517 SPTLC2 serine palmitoyltransferase long chain base subunit 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10558 SPTLC1 serine palmitoyltransferase long chain base subunit 1
23600 AMACR alpha-methylacyl-CoA racemase
27036 SIGLEC7 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