Charcot-Marie-Tooth disease type 1B

Summary
Synonym
  • CMT1B
  • Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
  • Charcot-Marie-Tooth neuropathy type 1B
  • HMSN IB
  • HMSN1B
  • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B
  • hereditary motor and sensory neuropathy IB
  • peroneal muscular atrophy
Definition
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).
Super Class
Charcot-Marie-Tooth disease type 1 autosomal dominant disease
Disease Ontology
DOID:0110152
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4359 MPZ myelin protein zero
Displaying 1 entry
Gene ID Gene Symbol Description Source
17528 Mpz myelin protein zero
Displaying 1 entry
Gene ID Gene Symbol Description Source
24564 Mpz myelin protein zero
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