Charcot-Marie-Tooth disease type 2

Summary
Synonym
  • hereditary motor and sensory neuropathy Guadalajara neuronal type
  • hereditary motor and sensory neuropathy Okinawa type
  • hereditary motor and sensory neuropathy type 2
Definition
A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.
Super Class
Charcot-Marie-Tooth disease
External Links
Disease Ontology
DOID:0050539
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 21 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
821 CANX calnexin
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1
3931 LCAT lecithin-cholesterol acyltransferase
4099 MAG myelin associated glycoprotein
4534 MTM1 myotubularin 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