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LEMS
MCID: LMB002
MIFTS: 54

Lambert-Eaton Myasthenic Syndrome (LEMS)

Categories: Cancer diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lambert-Eaton Myasthenic Syndrome

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MalaCards integrated aliases for Lambert-Eaton Myasthenic Syndrome:

Name: Lambert-Eaton Myasthenic Syndrome 12 74 53 58 36 54 43 15 71
Lambert-Eaton Syndrome 12 74 32
Lems 12 52
Myasthenic-Myopathic Syndrome of Lambert-Eaton 52
Myasthenic Syndrome of Lambert-Eaton 52
Lambert Eaton Myasthenic Syndrome 52
Eaton-Lambert Syndrome 12
Eaton Lambert Syndrome 52
Lambert Eaton Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
lambert-eaton myasthenic syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Netherlands),1-9/100000 (Europe),1-9/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Neuronal diseases Respiratory diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050214
KEGG 36 H01596
ICD9CM 34 358.3
MeSH 43 D015624
NCIt 49 C3155
SNOMED-CT 67 56989000
ICD10 32 G70.80 G73.1
MESH via Orphanet 44 D015624
ICD10 via Orphanet 33 G73.1
UMLS via Orphanet 72 C0022972
Orphanet 58 ORPHA43393
UMLS 71 C0022972
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Summaries for Lambert-Eaton Myasthenic Syndrome

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KEGG : 36 The Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of neuromuscular transmission in which autoantibodies against the P/Q-type voltage-gated calcium channel (VGCC) at the presynaptic nerve terminal play a major role in decreasing quantal release of acetylcholine (ACh). Clinically, LEMS patients suffer from characteristic muscle weakness and autonomic symptoms. The underlying cause of LEMS in slightly more than half of all patients is small cell lung carcinoma (SCLC) [DS:H00013]. The nerve terminal and carcinoma cells apparently share a common antigen (VGCC), suggesting an immunological cross-reactivity that may lead to the neurological abnormality. Cancer therapy is the priority for these patients. As for the remaining cases, no antibodies to P/Q-type VGCCs have been found in 10-15% of patients with LEMS. The fact that these seronegative patients positively respond to immunotherapy leads to the presumption that antibodies to other proteins might play a role in LEMS. Diagnosis of LEMS is ascertained on the basis of clinical symptoms and is further supported by electrophysiological and serological tests. The clinical triad in LEMS consists of weakness predominantly affecting proximal muscle groups, autonomic dysfunctions, and areflexia. Besides oncological treatment in case of case of SCLC-LEMS, treatment is based on symptomatic and semi-specific immunosuppressive therapy.

MalaCards based summary : Lambert-Eaton Myasthenic Syndrome, also known as lambert-eaton syndrome, is related to small cell cancer of the lung and lung oat cell carcinoma. An important gene associated with Lambert-Eaton Myasthenic Syndrome is CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2), and among its related pathways/superpathways are ERK Signaling and MAPK signaling pathway. The drugs Amifampridine and Neuromuscular Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and breast, and related phenotypes are xerostomia and reduced tendon reflexes

Disease Ontology : 12 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.

NIH Rare Diseases : 52 Lambert Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction. The neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. This syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. It may be associated with other autoimmune diseases , or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. Symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. Treatment of an underlying disorder or cancer is the first priority of treatment.

NINDS : 53 Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction-the site where nerve cells meet muscle cells and help activate the muscles. It is caused by a disruption of electrical impulses between these nerve and muscle cells. LEMS is an autoimmune condition; in such disorders the immune system, which normally protects the body from foreign organisms, mistakenly attacks the body's own tissues. The disruption of electrical impulses is associated with antibodies produced as a consequence of this autoimmunity. Symptoms include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. LEMS is closely associated with cancer, in particular small cell lung cancer. More than half the individuals diagnosed with LEMS also develop small cell lung cancer. LEMS may appear up to 3 years before cancer is diagnosed.

Wikipedia : 74 Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness... more...

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Related Diseases for Lambert-Eaton Myasthenic Syndrome

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Diseases related to Lambert-Eaton Myasthenic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 293)
# Related Disease Score Top Affiliating Genes
1 small cell cancer of the lung 31.9 GRP ENO2 ELAVL4 ELAVL3
2 lung oat cell carcinoma 31.4 GRP ENO2
3 thymoma 31.1 TTN TNF ENO2 AMPH
4 myasthenia gravis 30.8 TTN TNF MUSK IL10 HLA-B
5 respiratory failure 30.6 TTN TNF MUSK IL10
6 neuromuscular junction disease 30.5 TTN MUSK IL10 AMPH
7 neuromuscular disease 30.3 TTN TNF SYT2 MUSK IL10 AMPH
8 echinococcosis 29.8 TNF IL10 HLA-B
9 congenital myasthenic syndrome 29.7 TTN SYT2 MUSK CACNA1A
10 conjunctivitis 29.6 TNF IL10 HLA-B
11 episodic ataxia 29.0 MUSK CACNA1B CACNA1A
12 paraneoplastic syndromes 12.1
13 myasthenic syndrome, congenital, 7, presynaptic 12.0
14 paraneoplastic neurologic disorders 12.0
15 tularemia 11.6
16 autoimmune disease 11.1
17 autonomic dysfunction 11.1
18 small cell carcinoma 11.1
19 cerebellar degeneration 11.0
20 ptosis 11.0
21 paraneoplastic cerebellar degeneration 11.0
22 ataxia and polyneuropathy, adult-onset 10.9
23 aceruloplasminemia 10.8
24 subacute cerebellar degeneration 10.8
25 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
26 impotence 10.7
27 lung cancer 10.7
28 thymoma, familial 10.7
29 polyneuropathy 10.7
30 constipation 10.7
31 myopathy 10.7
32 adenocarcinoma 10.7
33 dysautonomia 10.7
34 dysphagia 10.7
35 paresthesia 10.7
36 kearns-sayre syndrome 10.6
37 dermatomyositis 10.6
38 merkel cell carcinoma 10.6
39 neuroblastoma 10.6
40 neuropathy 10.6
41 lupus erythematosus 10.6
42 encephalitis 10.6
43 amyotrophic lateral sclerosis 1 10.6
44 systemic lupus erythematosus 10.6
45 myositis 10.6
46 lung cancer susceptibility 3 10.6
47 foodborne botulism 10.6
48 autonomic neuropathy 10.6
49 neuroendocrine carcinoma 10.6
50 lateral sclerosis 10.6

Graphical network of the top 20 diseases related to Lambert-Eaton Myasthenic Syndrome:



Diseases related to Lambert-Eaton Myasthenic Syndrome
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Symptoms & Phenotypes for Lambert-Eaton Myasthenic Syndrome

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Human phenotypes related to Lambert-Eaton Myasthenic Syndrome:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 xerostomia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000217
2 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
3 progressive proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0009073
4 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003403
5 emg: repetitive nerve stimulation abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0030000
6 calcium channel antibody positivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0030209
7 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
8 bulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002483
9 impotence 58 31 frequent (33%) Frequent (79-30%) HP:0000802
10 small cell lung carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0030357
11 hypohidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000966
12 keratoconjunctivitis sicca 58 31 occasional (7.5%) Occasional (29-5%) HP:0001097
13 orthostatic hypotension due to autonomic dysfunction 58 31 occasional (7.5%) Occasional (29-5%) HP:0004926
14 dysautonomia 58 Very frequent (99-80%)
15 abnormality of the orbital region 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Lambert-Eaton Myasthenic Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 AMPH CACNA1A CACNA1B CACNB3 ELAVL3 ELAVL4
2 growth/size/body region MP:0005378 10.15 CACNA1A CACNA1B CACNB2 ENO2 IL10 MUSK
3 homeostasis/metabolism MP:0005376 10.13 CACNA1A CACNA1B CACNB2 CACNB3 ELAVL3 ELAVL4
4 mortality/aging MP:0010768 10.13 AMPH CACNA1A CACNA1B CACNB2 ELAVL3 ELAVL4
5 craniofacial MP:0005382 9.95 CACNB2 ENO2 IL10 SOX2 SOX3 TNF
6 nervous system MP:0003631 9.86 AMPH CACNA1A CACNA1B CACNB2 CACNB3 ELAVL3
7 muscle MP:0005369 9.76 CACNA1A CACNB3 IL10 MUSK SOX1 SOX2
8 no phenotypic analysis MP:0003012 9.17 CACNA1A ERC1 IL10 SOX1 SOX2 SOX3
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Drugs & Therapeutics for Lambert-Eaton Myasthenic Syndrome

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Drugs for Lambert-Eaton Myasthenic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amifampridine Approved, Investigational Phase 3 54-96-6 5918
2 Neuromuscular Agents Phase 3
3
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
4
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
5
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
6
Ethanol Approved Phase 2 64-17-5 702
7
4-Aminopyridine Approved Phase 1, Phase 2 504-24-5 1727
8 Sympathomimetics Phase 1, Phase 2
9 Central Nervous System Stimulants Phase 1, Phase 2
10 Vasoconstrictor Agents Phase 1, Phase 2
11 Nasal Decongestants Phase 1, Phase 2
12 Acetylcholine Release Inhibitors Phase 2
13 Botulinum Toxins Phase 2
14 abobotulinumtoxinA Phase 2
15 Cholinergic Agents Phase 2
16 Botulinum Toxins, Type A Phase 2
17 Pharmaceutical Solutions Phase 2
18 insulin Phase 2
19 Insulin, Globin Zinc Phase 2
20 Potassium Channel Blockers Phase 1, Phase 2
21
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
22
Levodopa Approved Phase 1 59-92-7 6047
23
Mannitol Approved, Investigational Phase 1 69-65-8 453 6251
24
Buspirone Approved, Investigational Phase 1 36505-84-7 2477
25
Carbidopa Approved Phase 1 28860-95-9 34359
26 Adrenergic Agents Phase 1
27 Anti-Asthmatic Agents Phase 1
28 Respiratory System Agents Phase 1
29 Autonomic Agents Phase 1
30 Bronchodilator Agents Phase 1
31 Adrenergic Agonists Phase 1
32 Adrenergic beta-Agonists Phase 1
33 Tocolytic Agents Phase 1
34 Albuterol Phase 1
35 Neurotransmitter Agents Phase 1
36 Immunologic Factors Phase 1
37 Tranquilizing Agents Phase 1
38 Anti-Anxiety Agents Phase 1
39 Dopamine Agents Phase 1
40 Dopamine agonists Phase 1
41 Psychotropic Drugs Phase 1
42 Antiparkinson Agents Phase 1
43 Aromatic Amino Acid Decarboxylase Inhibitors Phase 1
44 Serotonin Agents Phase 1
45 Adjuvants, Immunologic Phase 1
46 Carbidopa, levodopa drug combination Phase 1
47 Central Nervous System Depressants Phase 1
48 Serotonin Receptor Agonists Phase 1
49
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
50
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 A Phase 3, Double-blind, Placebo-controlled, Randomized Discontinuation Study Followed by Open-label Extension Evaluating Efficacy and Safety of Amifampridine Phosphate in Patients With Lambert-Eaton Myasthenic Syndrome (LEMS) Completed NCT01377922 Phase 3 Amifampridine Phosphate;Placebo
2 A Phase 3, Double-Blind, Placebo-controlled, Randomized, Parallel-Group Study to Evaluate the Efficacy and Safety of Amifampridine Phosphate in Patients With Lambert-Eaton Myasthenic Syndrome Completed NCT02970162 Phase 3 Amifampridine Phosphate;Placebo Oral Tablet
3 A Phase 3, Double-blind, Outpatient Crossover Study to Evaluate the Efficacy and Safety of Amifampridine Phosphate (3,4 Diaminopyridine Phosphate) in Patients With Congenital Myasthenic Syndromes (CMS) Completed NCT02562066 Phase 3 amifampridine phosphate;Placebo
4 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2 Ephedrine
5 Treatment of Temporo-Myofascial Disorder of Muscular Origin Using Botulinum Toxin: A Prospective Study Unknown status NCT02810015 Phase 2 Botulinum Toxin Type A
6 Inpatient Double-Blind Placebo-Controlled Withdrawal Study of 3,4-Diaminopyridine Base (3,4-DAP) in Subjects With Known Lambert-Eaton Myasthenic Syndrome Completed NCT01511978 Phase 2 Continuous 3,4-DAP;Taper 3,4-DAP to Placebo
7 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
8 Repetitive Transcranial Magnetic Stimulation Combined to Body Weight-support Treadmill Training in the Sensory-motor Recovery of Patients With Chronic Incomplete Spinal Cord Injury Not yet recruiting NCT03394560 Phase 2
9 Controlled Trial of 3,4-Diaminopyridine in LEMS Terminated NCT02090725 Phase 2 3-4 Diaminopyridine
10 Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes Completed NCT01203592 Phase 1 Albuterol
11 Acute Effects of Pharmacological Neuromodulation on Leg Motor Activity in Patients With Spinal Cord Injury Treated With Epidural Electrical Stimulation Not yet recruiting NCT04052776 Phase 1 Buspirone;Levodopa-Carbidopa;Buspirone + Levodopa-Carbidopa;Placebo oral tablet
12 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
13 Randomized Study of 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome Completed NCT00004832 3,4-diaminopyridine
14 Retrospective Study :Describe the Changes of the Disease in Many Cases Likely to Aggravate. Completed NCT01474980
15 Which One is Effective in Treatment of Bruxism? Occlusal Splints or Botulinum Toxin Completed NCT03891121 Botulinum toxin type A
16 A Prospective Study of The Prevalence and Significance of Paraneoplastic Autoantibodies in Small Cell Lung Cancer and Cancer of The Breast, Ovary, Hodgkin's Disease, Neuroblastoma and Other Cancers Completed NCT00608452
17 Open Label Trial Of 3,4-Diaminopyridine In Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenic Syndromes (CMS) Recruiting NCT00872950 3,4-DIAMINOPYRIDINE;3,4-Diaminopyridine
18 National Registry for Egyptian Pediatric Neuromuscular Diseases Recruiting NCT02124616
19 SDIM: Spinal Deformity Intraoperative Monitoring. Understanding and Managing Intraoperative Neuromonitoring Changes During Spinal Deformity Surgery: a Prospective Observational Study Recruiting NCT03880292
20 Use of 3,4-Diaminopyridine(3 4-DAP)in the Treatment of Lambert-Eaton Syndrome (LEMS) Available NCT01825395 3, 4-Diaminopyridine
21 Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome Available NCT03062631 3,4-Diaminopyridine
22 Treatment of Lambert-Eaton Syndrome With 3,4 Diaminopyridine No longer available NCT00994916 3,4 diaminopyridine
23 Treatment of Lambert-Eaton Syndrome With 3, 4-Diaminopyridine No longer available NCT00704925 3, 4 DAP
24 Treatment of Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenic Syndromes With 3, 4-Diaminopyridine No longer available NCT01378546 3,4-diaminopyridine
25 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenia No longer available NCT02012933 3,4-diaminopyridine
26 Use Of 3,4-Diaminopyridine (3,4-DAP) In The Treatment Of Lambert Eaton Myasthenic Syndrome No longer available NCT01373333 3,4 DAP
27 Treatment Use of 3,4-Diaminopyridine in Lambert-Eaton Myasthenia and Congenital Myasthenia Gravis No longer available NCT01765140 3,4-diaminopyridine;3,4-diaminopyridine
28 An Open-Label, Expanded Access Protocol for Amifampridine Phosphate Treatment in Patients With Congenital Myasthenic Syndrome (CMS) No longer available NCT02189720 Amifampridine Phosphate

Search NIH Clinical Center for Lambert-Eaton Myasthenic Syndrome

Cochrane evidence based reviews: lambert-eaton myasthenic syndrome

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Genetic Tests for Lambert-Eaton Myasthenic Syndrome

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Anatomical Context for Lambert-Eaton Myasthenic Syndrome

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MalaCards organs/tissues related to Lambert-Eaton Myasthenic Syndrome:

40
Lung, Testes, Breast, Spinal Cord, Prostate, Thymus, T Cells
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Publications for Lambert-Eaton Myasthenic Syndrome

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Articles related to Lambert-Eaton Myasthenic Syndrome:

(show top 50) (show all 935)
# Title Authors PMID Year
1
The emerging diversity of neuromuscular junction disorders. 54 61
17915563 2007
2
Immunogenicity of P/Q-type calcium channel in small cell lung cancer: investigation of alpha1 subunit polyglutamine expansion. 54 61
10674974 1999
3
Immunoassays fail to detect antibodies against neuronal calcium channels in amyotrophic lateral sclerosis serum. 54 61
8957009 1996
4
Neuronal antibody detection and improved lung cancer prediction in Lambert-Eaton myasthenic syndrome. 61
31951874 2020
5
Anti-SOX1 antibody-positive paraneoplastic neurological syndrome presenting with Lambert-Eaton myasthenic syndrome and small cell lung cancer: A case report. 61
31880403 2020
6
Long-term follow-up, quality of life, and survival of patients with Lambert-Eaton myasthenic syndrome. 61
31831596 2020
7
Amifampridine for the Management of Lambert-Eaton Myasthenic Syndrome: A New Take on an Old Drug. 61
31319693 2020
8
Trouble at the junction: When myopathy and myasthenia overlap. 61
31449669 2019
9
Lambert-Eaton Myasthenic Syndrome Plus. 61
31743258 2019
10
A Case of Triple-Negative Myasthenia Gravis Lambert-Eaton Overlap Syndrome With Negative Agrin and LRP-4 Antibodies. 61
31743253 2019
11
Lambert-Eaton Myasthenic Syndrome, Botulism, and Immune Checkpoint Inhibitor-Related Myasthenia Gravis. 61
31794471 2019
12
Worsening and newly diagnosed paraneoplastic syndromes following anti-PD-1 or anti-PD-L1 immunotherapies, a descriptive study. 61
31796119 2019
13
Amifampridine tablets for the treatment of Lambert-Eaton myasthenic syndrome. 61
31639317 2019
14
Inadequate secretion of anti-diuretic hormone and Lambert-Eaton myasthenic syndrome as presentation of small cell lung cancer. 61
31780213 2019
15
Non-small cell lung cancer associated with late-onset Lambert-Eaton myasthenic syndrome and paraneoplastic cerebellar degeneration. 61
31735997 2019
16
Amifampridine for the treatment of Lambert-Eaton myasthenic syndrome. 61
31533480 2019
17
Thymic small cell carcinoma associated with Lambert-Eaton myasthenic syndrome. 61
31586614 2019
18
Reversible tongue atrophy in Lambert-Eaton myasthenic syndrome. 61
31477611 2019
19
Validation of the triple timed up-and-go test in Lambert-Eaton myasthenia. 61
31269226 2019
20
Pharmacokinetics and tissue distribution of 3,4-diaminopyridine in rats. 61
31419315 2019
21
Recent Advances and Therapeutic Options in Lambert-Eaton Myasthenic Syndrome. 61
31637147 2019
22
GRP78 antibodies damage the blood-brain barrier and relate to cerebellar degeneration in Lambert-Eaton myasthenic syndrome. 61
31236596 2019
23
Clinical characteristics and long term follow-up of Lambert-Eaton myasthenia syndrome in patients with and without small cell lung cancer. 61
31072737 2019
24
Cerebellar Ataxia With Extreme Photophobia Associated With Anti-SOX1 Antibodies. 61
31244974 2019
25
A rare case of long-term paraesthesia diagnosed as a paraneoplastic syndrome by anti-SOX1 antibody determination. 61
31315840 2019
26
Repetitive nerve stimulation test in myasthenic crisis. 61
30488463 2019
27
Lambert-Eaton myasthenic syndrome and merkel cell carcinoma. 61
31233589 2019
28
Incidence and Ocular Features of Pediatric Myasthenias. 61
30653958 2019
29
Amifampridine Phosphate (Firdapse) Is Effective in a Confirmatory Phase 3 Clinical Trial in LEMS. 61
30801481 2019
30
Pembrolizumab plus trastuzumab in trastuzumab-resistant, advanced, HER2-positive breast cancer (PANACEA): a single-arm, multicentre, phase 1b-2 trial. 61
30765258 2019
31
[Paraneoplastic Cerebellar Degeneration with Lambert-Eaton Myasthenic Syndrome: A Report of an Effectively Treated Case and Systematic Review of Japanese Cases]. 61
30718446 2019
32
Autoimmune Channelopathies at Neuromuscular Junction. 61
31156543 2019
33
Neuronal Antibodies and Associated Syndromes. 61
31380113 2019
34
Lambert-Eaton Myasthenic syndrome: early diagnosis is key. 61
31191084 2019
35
Lambert-Eaton Myasthenic Syndrome Secondary to Nivolumab and Ipilimumab in a Patient with Small-Cell Lung Cancer. 61
31355029 2019
36
Lambert-Eaton myasthenic syndrome associated with alemtuzumab administration. 61
30384197 2019
37
The utility of anti-SOX2 antibodies for cancer prediction in patients with paraneoplastic neurological disorders. 61
30445363 2019
38
Paraneoplastic Lambert-Eaton syndrome in a patient with disseminated metastatic cancer. 61
30951047 2019
39
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. 61
30533528 2018
40
Lambert-Eaton myasthenic syndrome developing post-diagnosis of small-cell lung cancer. 61
30518000 2018
41
What is in the Neuromuscular Junction Literature? 61
30439753 2018
42
Autoimmune encephalitis with elevated N-type calcium channel antibodies as a multiple sclerosis mimic. 61
30268041 2018
43
Lambert-Eaton Myasthenic Syndrome Caused by Nivolumab in a Patient with Squamous Cell Lung Cancer. 61
30627102 2018
44
Lambert-Eaton Myasthenic Syndrome Associated With Extrapulmonary Small Cell Cancer Detected by 18F-FDG PET/CT. 61
30080186 2018
45
Retrospective study of paraneoplastic neurological syndromes in a Chinese Han population from Shandong, East China. 61
29355452 2018
46
Low specificity of voltage-gated calcium channel antibodies in Lambert-Eaton myasthenic syndrome: a call for caution. 61
29987589 2018
47
Lambert-Eaton Myasthenic Syndrome Associated with Synchronous Double Cancer: A Combination of Small Cell Carcinoma of the Cervix and Breast Carcinoma. 61
29526952 2018
48
Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. 61
29879051 2018
49
Pathogenic Mechanisms and Clinical Correlations in Autoimmune Myasthenic Syndromes. 61
30011414 2018
50
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features. 61
29696584 2018
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Variations for Lambert-Eaton Myasthenic Syndrome

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Expression for Lambert-Eaton Myasthenic Syndrome

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Search GEO for disease gene expression data for Lambert-Eaton Myasthenic Syndrome.
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Pathways for Lambert-Eaton Myasthenic Syndrome

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Pathways related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.37 TNF SOX3 SOX21 SOX2 SOX1 MUSK
2
MAPK signaling pathway 36 1
12.52 TNF CACNB3 CACNB2 CACNA1B CACNA1A
3
DREAM Repression and Dynorphin Expression 63
Show member pathways
 12.36 TNF CACNB3 CACNB2 CACNA1B CACNA1A
4
Dopamine-DARPP32 Feedback onto cAMP Pathway 63
12.13 CACNB3 CACNB2 CACNA1B CACNA1A
5
Development Ligand-independent activation of ESR1 and ESR2 22
Show member pathways
 12.06 CACNB3 CACNB2 CACNA1B CACNA1A
6
Dilated cardiomyopathy (DCM) 36
Show member pathways
 11.97 TTN TNF CACNB3 CACNB2
7
Presenilin-Mediated Signaling 63
11.77 CACNB3 CACNB2 CACNA1B CACNA1A
8
Type II diabetes mellitus 36 1
Show member pathways
 11.67 TNF CACNA1B CACNA1A
9
Fc-GammaR Pathway 63
Show member pathways
 11.67 CACNB3 CACNB2 CACNA1B CACNA1A
10
Celecoxib Pathway, Pharmacodynamics 60
11.02 CACNB3 CACNB2 CACNA1B CACNA1A
11
Netrin Signaling 63
10.61 CACNB3 CACNB2 CACNA1B CACNA1A
12
Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) 60
10.57 CACNA1B CACNA1A
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GO Terms for Lambert-Eaton Myasthenic Syndrome

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Cellular components related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.63 SYT2 MUSK ERC1 CACNB3 CACNA1A AMPH
2 L-type voltage-gated calcium channel complex GO:1990454 9.26 CACNB3 CACNB2
3 voltage-gated calcium channel complex GO:0005891 9.26 CACNB3 CACNB2 CACNA1B CACNA1A
4 nuclear transcription factor complex GO:0044798 8.92 SOX3 SOX21 SOX2 SOX1

Biological processes related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.98 SYT2 SOX3 SOX21 SOX2 SOX1 MUSK
2 regulation of ion transmembrane transport GO:0034765 9.76 CACNB3 CACNB2 CACNA1B CACNA1A
3 calcium ion transport GO:0006816 9.71 CACNB3 CACNB2 CACNA1B CACNA1A
4 calcium ion transmembrane transport GO:0070588 9.67 CACNB3 CACNB2 CACNA1B CACNA1A
5 response to amyloid-beta GO:1904645 9.55 CACNA1B CACNA1A
6 chemical synaptic transmission GO:0007268 9.55 CACNB3 CACNB2 CACNA1B CACNA1A AMPH
7 calcium ion-regulated exocytosis of neurotransmitter GO:0048791 9.54 SYT2 CACNA1A
8 regulation of voltage-gated calcium channel activity GO:1901385 9.52 CACNB3 CACNB2
9 endothelial cell apoptotic process GO:0072577 9.51 TNF IL10
10 neuromuscular junction development GO:0007528 9.5 MUSK CACNB3 CACNB2
11 negative regulation of cytokine secretion involved in immune response GO:0002740 9.49 TNF IL10
12 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.48 CACNB3 CACNB2
13 receptor biosynthetic process GO:0032800 9.26 TNF IL10
14 calcium ion import GO:0070509 9.13 CACNB2 CACNA1B CACNA1A
15 membrane depolarization GO:0051899 8.8 CACNB3 CACNA1B CACNA1A

Molecular functions related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.46 CACNB3 CACNB2 CACNA1B CACNA1A
2 voltage-gated calcium channel activity GO:0005245 9.26 CACNB3 CACNB2 CACNA1B CACNA1A
3 high voltage-gated calcium channel activity GO:0008331 8.92 CACNB3 CACNB2 CACNA1B CACNA1A
Sources

Sources for Lambert-Eaton Myasthenic Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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