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
Disease Ontology
DOID:0050214
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
773 CACNA1A calcium voltage-gated channel subunit alpha1 A
774 CACNA1B calcium voltage-gated channel subunit alpha1 B
1128 CHRM1 cholinergic receptor muscarinic 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
12287 Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit
12669 Chrm1 cholinergic receptor, muscarinic 1, CNS
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25229 Chrm1 cholinergic receptor, muscarinic 1
25398 Cacna1a calcium voltage-gated channel subunit alpha1 A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32158 cac cacophony
37892 mAChR-A muscarinic Acetylcholine Receptor, A-type
Displaying all 3 entries
Gene ID Gene Symbol Description Source
555941 cacna1ba calcium channel, voltage-dependent, N type, alpha 1B subunit, a
562059 cacna1aa calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
569528 cacna1ab calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b
Displaying 1 entry
Gene ID Gene Symbol Description Source
179962 gar-3 Muscarinic acetylcholine receptor gar-3

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024