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
Disease Ontology
DOID:0050540
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1959 EGR2 early growth response 2
4359 MPZ myelin protein zero
5376 PMP22 peripheral myelin protein 22
Displaying all 2 entries
Gene ID Gene Symbol Description Source
17528 Mpz myelin protein zero
18858 Pmp22 peripheral myelin protein 22
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24564 Mpz myelin protein zero
24660 Pmp22 peripheral myelin protein 22
78960 Prx periaxin
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
780198 mpz myelin protein zero Xenopus tropicalis (tropical clawed frog)
100037196 mpz.S myelin protein zero S homeolog Xenopus laevis (African clawed frog)

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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: December 9, 2024