Charcot-Marie-Tooth disease axonal type 2P

Summary
Synonym
  • CMT2P
  • Charcot-Marie-Tooth disease type 2P
  • Charcot-Marie-Tooth neuropathy type 2P
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease autosomal recessive disease
External Links
Disease Ontology
DOID:0110169
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
90678 LRSAM1 leucine rich repeat and sterile alpha motif containing 1

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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