Lambert-Eaton myasthenic syndrome

Summary
Synonym
  • Eaton-Lambert syndrome
  • LEMS
  • Lambert-Eaton syndrome
Definition
A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.
Super Class
autoimmune disease of musculoskeletal system autoimmune disease of peripheral nervous system neuromuscular junction disease
External Links
Disease Ontology
DOID:0050214
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
1103 CHAT choline O-acetyltransferase
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
3383 ICAM1 intercellular adhesion molecule 1
4680 CEACAM6 CEA cell adhesion molecule 6
5728 PTEN phosphatase and tensin homolog
29925 GMPPB GDP-mannose pyrophosphorylase B

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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