Charcot-Marie-Tooth disease type 3

Summary
Synonym
  • DEJERINE-SOTTAS NEUROPATHY
  • DEJERINE-SOTTAS SYNDROME
Definition
A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination.
Super Class
Charcot-Marie-Tooth disease autosomal dominant disease autosomal recessive disease
External Links
Disease Ontology
DOID:0050540
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
847 CAT catalase
2877 GPX2 glutathione peroxidase 2
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
5332 PLCB4 phospholipase C beta 4
5743 PTGS2 prostaglandin-endoperoxide synthase 2
8898 MTMR2 myotubularin related protein 2
9896 FIG4 FIG4 phosphoinositide 5-phosphatase
10855 HPSE heparanase
23175 LPIN1 lipin 1
23600 AMACR alpha-methylacyl-CoA racemase

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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