Charcot-Marie-Tooth disease axonal type 2L

Summary
Synonym
  • CMT2L
  • Charcot-Marie-Tooth neuropathy axonal type 2L
  • autosomal dominant Charcot-Marie-Tooth disease type 2L
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
Disease Ontology
DOID:0110174
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1409 CRYAA crystallin alpha A
26353 HSPB8 heat shock protein family B (small) member 8
Displaying 1 entry
Gene ID Gene Symbol Description Source
12954 Cryaa crystallin, alpha A
Displaying 1 entry
Gene ID Gene Symbol Description Source
24273 Cryaa crystallin, alpha A

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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