Charcot-Marie-Tooth disease axonal type 2T

Summary
Synonym
  • AR-CMT2T
  • CMT2T
  • Charcot-Marie-Tooth neuropathy type 2T
  • autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease autosomal recessive disease
Disease Ontology
DOID:0110160
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4311 MME membrane metalloendopeptidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
17380 Mme membrane metallo endopeptidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
24590 Mme membrane metallo-endopeptidase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
31547 Nep1 Neprilysin 1
42449 Nep4 Neprilysin 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
188090 nep-2 Neprilysin-2

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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