Details of Disease

General Information of Disease (ID: DISN0Q7Q)

• Disease Name: LambertEaton myasthenic syndrome
• Synonyms: Lambert Eaton myasthenic syndrome; myasthenic syndrome of Lambert-Eaton; Lambert-Eaton syndrome; myasthenic-myopathic syndrome of Lambert-Eaton; Eaton Lambert syndrome; LEMS; Lambert Eaton syndrome; Eaton-Lambert syndrome
• Disease Class: 8C62: Lambert-Eaton syndrome
• Definition: Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).
• Disease Hierarchy:
  DISXLUJS: Paraneoplastic neurologic syndrome
  DISN0Q7Q: LambertEaton myasthenic syndrome
• ICD Code:
  ICD-11: ICD-11: 8C62
  ICD-10: ICD-10: G73.1
  Expand ICD-11: '8C62
  Expand ICD-10: 'G73.1
• Disease Identifiers:
  MONDO ID: MONDO_0018556
  MESH ID: D015624
  UMLS CUI: C0022972
  MedGen ID: 6005
  Orphanet ID: 43393
  SNOMED CT ID: 56989000

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Amifampridine	DMK08L3	Approved	NA	[1]

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Guanidine	DM4GO8H	Investigative	Small molecular drug	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PREPL	TT3HYDO	Limited	Biomarker	[3]
CHAT	TTKYFSB	moderate	Genetic Variation	[4]
SLC18A3	TTV8KWS	Definitive	Biomarker	[5]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DPAGT1	OTYEJAGZ	Limited	Biomarker	[6]
DOK7	OTR2V7HO	moderate	Genetic Variation	[7]
CHRND	OTLUUP7C	Strong	Genetic Variation	[8]
COL13A1	OTM9IM6J	Strong	Genetic Variation	[9]
DAP	OT5YLL7E	Strong	Biomarker	[10]
GMPPB	OTJ0CCJ8	Strong	Genetic Variation	[11]
PLEC	OTU4XDEG	Strong	Biomarker	[12]
CEACAM4	OT0C7YUD	Definitive	Biomarker	[13]
EIF3K	OTGTKVGO	Definitive	Biomarker	[14]
SOX1	OTVI1RAR	Definitive	Biomarker	[15]
SYT2	OTJYGTY4	Definitive	Genetic Variation	[16]

References

• [1] 2018 FDA drug approvals.Nat Rev Drug Discov. 2019 Feb;18(2):85-89.
• [2] Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
• [3] Congenital myasthenic syndromes: recent advances.Curr Opin Neurol. 2016 Oct;29(5):565-71. doi: 10.1097/WCO.0000000000000370.
• [4] Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.Muscle Nerve. 2003 Feb;27(2):180-7. doi: 10.1002/mus.10300.
• [5] Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome.Neurology. 2017 Mar 14;88(11):1021-1028. doi: 10.1212/WNL.0000000000003720. Epub 2017 Feb 10.
• [6] DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Neurology. 2014 May 20;82(20):1822-30. doi: 10.1212/WNL.0000000000000435. Epub 2014 Apr 23.
• [7] DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.Neuromuscul Disord. 2018 Mar;28(3):278-282. doi: 10.1016/j.nmd.2017.12.005. Epub 2017 Dec 13.
• [8] New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report.Medicine (Baltimore). 2017 Dec;96(51):e8981. doi: 10.1097/MD.0000000000008981.
• [9] The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107.
• [10] Amifampridine for the Management of Lambert-Eaton Myasthenic Syndrome: A New Take on an Old Drug.Ann Pharmacother. 2020 Jan;54(1):56-63. doi: 10.1177/1060028019864574. Epub 2019 Jul 18.
• [11] Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.Neuromuscul Disord. 2017 Jun;27(6):557-564. doi: 10.1016/j.nmd.2017.03.004. Epub 2017 Mar 10.
• [12] Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12.
• [13] Increased frequency of HLA class II alleles DRB1*0301 and DQB1*0201 in Lambert-Eaton myasthenic syndrome without associated cancer.Hum Immunol. 2000 Aug;61(8):828-33. doi: 10.1016/s0198-8859(00)00135-x.
• [14] Pathogenic Mechanisms and Clinical Correlations in Autoimmune Myasthenic Syndromes.Semin Neurol. 2018 Jun;38(3):344-354. doi: 10.1055/s-0038-1660500. Epub 2018 Jul 16.
• [15] SOX1 antibodies are markers of paraneoplastic Lambert-Eaton myasthenic syndrome.Neurology. 2008 Mar 18;70(12):924-8. doi: 10.1212/01.wnl.0000281663.81079.24. Epub 2007 Nov 21.
• [16] Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007.