Charcot-Marie-Tooth disease axonal type 2F

Summary
Synonym
  • CMT2F
  • Charcot-Marie-Tooth neuronal type 2F
  • Charcot-Marie-Tooth neuropathy type 2F
  • autosomal dominant Charcot-Marie-Tooth disease type 2F
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1).
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
Disease Ontology
DOID:0110163
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 29 in total
Gene ID Gene Symbol Description Source
4051 CYP4F3 cytochrome P450 family 4 subfamily F member 3
4099 MAG myelin associated glycoprotein
4534 MTM1 myotubularin 1
5230 PGK1 phosphoglycerate kinase 1
5236 PGM1 phosphoglucomutase 1
5332 PLCB4 phospholipase C beta 4
5621 PRNP prion protein (Kanno blood group)
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
8898 MTMR2 myotubularin related protein 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: August 19, 2024