Charcot-Marie-Tooth disease type 1A

Summary
Synonym
  • CMT1A
  • Charcot-Marie-Tooth neuropathy type 1A
  • HMSN1A
  • autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
  • hereditary motor and sensory neuropathy 1A
  • microduplication 17p12
Definition
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
Super Class
Charcot-Marie-Tooth disease type 1 autosomal dominant disease
External Links
Disease Ontology
DOID:0110148
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 29 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
821 CANX calnexin
847 CAT catalase
960 CD44 CD44 molecule (IN blood group)
1636 ACE angiotensin I converting enzyme
2629 GBA1 glucosylceramidase beta 1
2877 GPX2 glutathione peroxidase 2
3032 HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
3098 HK1 hexokinase 1
3931 LCAT lecithin-cholesterol acyltransferase

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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