LEMS
MCID: LMB002
MIFTS: 55

Lambert-Eaton Myasthenic Syndrome (LEMS)

Categories: Cancer diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Lambert-Eaton Myasthenic Syndrome

MalaCards integrated aliases for Lambert-Eaton Myasthenic Syndrome:

Name: Lambert-Eaton Myasthenic Syndrome 12 75 54 59 37 55 44 15 72
Lambert-Eaton Syndrome 12 75 33
Lems 12 53
Myasthenic-Myopathic Syndrome of Lambert-Eaton 53
Myasthenic Syndrome of Lambert-Eaton 53
Lambert Eaton Myasthenic Syndrome 53
Eaton-Lambert Syndrome 12
Eaton Lambert Syndrome 53
Lambert Eaton Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
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:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050214
KEGG 37 H01596
ICD9CM 35 358.3
MeSH 44 D015624
NCIt 50 C3155
SNOMED-CT 68 56989000
ICD10 33 G70.80 G73.1
MESH via Orphanet 45 D015624
ICD10 via Orphanet 34 G73.1
UMLS via Orphanet 73 C0022972
Orphanet 59 ORPHA43393
UMLS 72 C0022972

Summaries for Lambert-Eaton Myasthenic Syndrome

KEGG : 37
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 paraneoplastic cerebellar degeneration and neuromuscular junction disease. 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 CREB Pathway. The drugs Amifampridine and Neuromuscular Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and spinal cord, 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 : 53 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 : 54 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 : 75 Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness... more...

Related Diseases for Lambert-Eaton Myasthenic Syndrome

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

(show top 50) (show all 245)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 31.1 ENO2 CACNA1A
2 neuromuscular junction disease 30.4 TTN MUSK
3 congenital myasthenic syndrome 29.4 SYT2 MUSK CACNA1A
4 paraneoplastic syndromes 12.1
5 myasthenic syndrome, congenital, 7, presynaptic 12.0
6 paraneoplastic neurologic disorders 12.0
7 tularemia 11.6
8 myasthenia gravis 11.3
9 autoimmune disease 11.1
10 small cell cancer of the lung 11.1
11 autonomic dysfunction 11.1
12 small cell carcinoma 11.1
13 cerebellar degeneration 11.0
14 ptosis 10.9
15 ataxia and polyneuropathy, adult-onset 10.9
16 respiratory failure 10.9
17 aceruloplasminemia 10.8
18 lung cancer 10.8
19 neuromuscular disease 10.8
20 subacute cerebellar degeneration 10.8
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
22 impotence 10.7
23 polyneuropathy 10.7
24 constipation 10.7
25 myopathy 10.7
26 neuroblastoma 1 10.7
27 thymoma, familial 10.7
28 adenocarcinoma 10.7
29 thymoma 10.7
30 dysautonomia 10.7
31 dysphagia 10.7
32 kearns-sayre syndrome 10.6
33 dermatomyositis 10.6
34 merkel cell carcinoma 10.6
35 neuropathy 10.6
36 lupus erythematosus 10.6
37 encephalitis 10.6
38 paresthesia 10.6
39 amyotrophic lateral sclerosis 1 10.6
40 systemic lupus erythematosus 10.6
41 lung cancer susceptibility 3 10.6
42 autonomic neuropathy 10.6
43 neuroendocrine carcinoma 10.6
44 lateral sclerosis 10.6
45 lung oat cell carcinoma 10.6
46 limbic encephalitis 10.6
47 syndrome of inappropriate antidiuretic hormone 10.6
48 bartter disease 10.5
49 breast cancer 10.5
50 myositis 10.5

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



Diseases related to Lambert-Eaton Myasthenic Syndrome

Symptoms & Phenotypes for Lambert-Eaton Myasthenic Syndrome

Human phenotypes related to Lambert-Eaton Myasthenic Syndrome:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 xerostomia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000217
2 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
3 progressive proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009073
4 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003403
5 emg: repetitive nerve stimulation abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0030000
6 calcium channel antibody positivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0030209
7 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
8 bulbar signs 59 32 frequent (33%) Frequent (79-30%) HP:0002483
9 impotence 59 32 frequent (33%) Frequent (79-30%) HP:0000802
10 small cell lung carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0030357
11 hypohidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000966
12 keratoconjunctivitis sicca 59 32 occasional (7.5%) Occasional (29-5%) HP:0001097
13 orthostatic hypotension due to autonomic dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0004926
14 dysautonomia 59 Very frequent (99-80%)
15 abnormality of the orbital region 59 Frequent (79-30%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.53 MUSK
2 Decreased viability GR00173-A 9.53 MUSK
3 Decreased viability GR00221-A-1 9.53 MUSK SOX2
4 Decreased viability GR00221-A-2 9.53 TTN
5 Decreased viability GR00221-A-4 9.53 MUSK SOX2 SYT2 TTN
6 Decreased viability GR00342-S-1 9.53 TTN
7 Decreased viability GR00342-S-3 9.53 TTN
8 Decreased viability GR00381-A-1 9.53 SYT2
9 Decreased viability GR00402-S-2 9.53 MUSK SOX2 SYT2 TTN

MGI Mouse Phenotypes related to Lambert-Eaton Myasthenic Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 CACNA1A CACNA1B CACNB3 ENO2 MUSK SOX2
2 growth/size/body region MP:0005378 9.97 CACNA1A CACNA1B CACNB2 ENO2 MUSK SOX2
3 homeostasis/metabolism MP:0005376 9.91 CACNA1A CACNA1B CACNB2 CACNB3 ERC1 MUSK
4 mortality/aging MP:0010768 9.81 CACNA1A CACNA1B CACNB2 ERC1 MUSK SOX2
5 craniofacial MP:0005382 9.77 CACNB2 ENO2 SOX2 SOX3 TTN
6 muscle MP:0005369 9.35 CACNA1A CACNB3 MUSK SOX2 TTN
7 nervous system MP:0003631 9.28 CACNA1A CACNA1B CACNB2 CACNB3 ENO2 MUSK

Drugs & Therapeutics for Lambert-Eaton Myasthenic Syndrome

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Amifampridine Amifampridine is indicated for the symptomatic treatment of Lambert-Eaton myasthenic syndrome (LEMS) in adults[F272] and in patients aged 6 to less than 17 years of age.[F4609,L6250] Nevertheless, it is important to note that at the current time only the Firdapse brand of amifampridine is indicated for the treatment of LEMS in adults[F272] and the Ruzurgi brand of amifampridine is indicated for the treatment of LEMS in patients aged 6 to less than 17 years.[F4609,L6250] DB11640

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

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amifampridine Approved, Investigational Phase 3 54-96-6
2 Neuromuscular Agents Phase 3
3 Peripheral Nervous System Agents Phase 3
4
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
5
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
6
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
7
Ethanol Approved Phase 2 64-17-5 702
8
4-Aminopyridine Approved Phase 1, Phase 2 504-24-5 1727
9 Sympathomimetics Phase 1, Phase 2
10 Central Nervous System Stimulants Phase 1, Phase 2
11 Nasal Decongestants Phase 1, Phase 2
12 Vasoconstrictor Agents Phase 1, Phase 2
13 Acetylcholine Release Inhibitors Phase 2
14 abobotulinumtoxinA Phase 2
15 Cholinergic Agents Phase 2
16 Botulinum Toxins Phase 2
17 Botulinum Toxins, Type A Phase 2
18 Pharmaceutical Solutions Phase 2
19 insulin Phase 2
20 Insulin, Globin Zinc Phase 2
21 Potassium Channel Blockers Phase 1, Phase 2
22
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
23
Mannitol Approved, Investigational Phase 1 69-65-8 453 6251
24
Levodopa Approved Phase 1 59-92-7 6047
25
Carbidopa Approved Phase 1 28860-95-9 34359
26
Buspirone Approved, Investigational Phase 1 36505-84-7 2477
27 Adrenergic Agents Phase 1
28 Respiratory System Agents Phase 1
29 Anti-Asthmatic Agents Phase 1
30 Autonomic Agents Phase 1
31 Bronchodilator Agents Phase 1
32 Adrenergic Agonists Phase 1
33 Adrenergic beta-Agonists Phase 1
34 Tocolytic Agents Phase 1
35 Adrenergic beta-2 Receptor Agonists Phase 1
36 Albuterol Phase 1
37 Neurotransmitter Agents Phase 1
38 Immunologic Factors Phase 1
39 Serotonin Receptor Agonists Phase 1
40 Tranquilizing Agents Phase 1
41 Dopamine Agents Phase 1
42 Anti-Anxiety Agents Phase 1
43 Adjuvants, Immunologic Phase 1
44 Antiparkinson Agents Phase 1
45 Serotonin Agents Phase 1
46 Central Nervous System Depressants Phase 1
47 Dopamine agonists Phase 1
48 Psychotropic Drugs Phase 1
49 Aromatic Amino Acid Decarboxylase Inhibitors Phase 1
50 Carbidopa, levodopa drug combination Phase 1

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) Recruiting 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 Randomized Study of 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome Completed NCT00004832 3,4-diaminopyridine
13 Retrospective Study :Describe the Changes of the Disease in Many Cases Likely to Aggravate. Completed NCT01474980
14 Which One is Effective in Treatment of Bruxism? Occlusal Splints or Botulinum Toxin Completed NCT03891121 Botulinum toxin type A
15 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
16 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
17 National Registry for Egyptian Pediatric Neuromuscular Diseases Recruiting NCT02124616
18 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Recruiting NCT01403402
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 Available NCT00704925 3, 4 DAP
23 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenia Available NCT02012933 3,4-diaminopyridine
24 An Open-Label, Expanded Access Protocol for Amifampridine Phosphate Treatment in Patients With Congenital Myasthenic Syndrome (CMS) Available NCT02189720 Amifampridine Phosphate
25 Treatment of Lambert-Eaton Syndrome With 3,4 Diaminopyridine No longer available NCT00994916 3,4 diaminopyridine
26 Treatment of Lambert-Eaton Myasthenic Syndrome and Congenital Myasthenic Syndromes With 3, 4-Diaminopyridine No longer available NCT01378546 3,4-diaminopyridine
27 Use Of 3,4-Diaminopyridine (3,4-DAP) In The Treatment Of Lambert Eaton Myasthenic Syndrome No longer available NCT01373333 3,4 DAP
28 Treatment Use of 3,4-Diaminopyridine in Lambert-Eaton Myasthenia and Congenital Myasthenia Gravis No longer available NCT01765140 3,4-diaminopyridine;3,4-diaminopyridine

Search NIH Clinical Center for Lambert-Eaton Myasthenic Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Amifampridine

Cochrane evidence based reviews: lambert-eaton myasthenic syndrome

Genetic Tests for Lambert-Eaton Myasthenic Syndrome

Anatomical Context for Lambert-Eaton Myasthenic Syndrome

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

41
Lung, Testes, Spinal Cord, Breast, Ovary, Brain, Prostate

Publications for Lambert-Eaton Myasthenic Syndrome

Articles related to Lambert-Eaton Myasthenic Syndrome:

(show top 50) (show all 920)
# Title Authors PMID Year
1
The emerging diversity of neuromuscular junction disorders. 9 38
17915563 2007
2
Immunogenicity of P/Q-type calcium channel in small cell lung cancer: investigation of alpha1 subunit polyglutamine expansion. 9 38
10674974 1999
3
Immunoassays fail to detect antibodies against neuronal calcium channels in amyotrophic lateral sclerosis serum. 9 38
8957009 1996
4
Validation of the triple timed up-and-go test in Lambert-Eaton myasthenia. 38
31269226 2019
5
Pharmacokinetics and Tissue Distribution of 3,4-Diaminopyridine in Rats. 38
31419315 2019
6
GRP78 antibodies damage the blood-brain barrier and relate to cerebellar degeneration in Lambert-Eaton myasthenic syndrome. 38
31236596 2019
7
Clinical characteristics and long term follow-up of Lambert-Eaton myasthenia syndrome in patients with and without small cell lung cancer. 38
31072737 2019
8
Amifampridine for the Management of Lambert-Eaton Myasthenic Syndrome: A New Take on an Old Drug. 38
31319693 2019
9
Cerebellar Ataxia With Extreme Photophobia Associated With Anti-SOX1 Antibodies. 38
31244974 2019
10
A rare case of long-term paraesthesia diagnosed as a paraneoplastic syndrome by anti-SOX1 antibody determination. 38
31315840 2019
11
Repetitive nerve stimulation test in myasthenic crisis. 38
30488463 2019
12
Lambert-Eaton myasthenic syndrome and merkel cell carcinoma. 38
31233589 2019
13
Incidence and Ocular Features of Pediatric Myasthenias. 38
30653958 2019
14
Amifampridine Phosphate (Firdapse) Is Effective in a Confirmatory Phase 3 Clinical Trial in LEMS. 38
30801481 2019
15
Pembrolizumab plus trastuzumab in trastuzumab-resistant, advanced, HER2-positive breast cancer (PANACEA): a single-arm, multicentre, phase 1b-2 trial. 38
30765258 2019
16
[Paraneoplastic Cerebellar Degeneration with Lambert-Eaton Myasthenic Syndrome: A Report of an Effectively Treated Case and Systematic Review of Japanese Cases]. 38
30718446 2019
17
Autoimmune Channelopathies at Neuromuscular Junction. 38
31156543 2019
18
Neuronal Antibodies and Associated Syndromes. 38
31380113 2019
19
Lambert-Eaton Myasthenic syndrome: early diagnosis is key. 38
31191084 2019
20
Lambert-Eaton Myasthenic Syndrome Secondary to Nivolumab and Ipilimumab in a Patient with Small-Cell Lung Cancer. 38
31355029 2019
21
Lambert-Eaton myasthenic syndrome associated with alemtuzumab administration. 38
30384197 2019
22
Paraneoplastic Lambert-Eaton syndrome in a patient with disseminated metastatic cancer. 38
30951047 2019
23
The utility of anti-SOX2 antibodies for cancer prediction in patients with paraneoplastic neurological disorders. 38
30445363 2019
24
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. 38
30533528 2018
25
Lambert-Eaton myasthenic syndrome developing post-diagnosis of small-cell lung cancer. 38
30518000 2018
26
What is in the Neuromuscular Junction Literature? 38
30439753 2018
27
Autoimmune encephalitis with elevated N-type calcium channel antibodies as a multiple sclerosis mimic. 38
30268041 2018
28
Retrospective study of paraneoplastic neurological syndromes in a Chinese Han population from Shandong, East China. 38
29355452 2018
29
Lambert-Eaton Myasthenic Syndrome Associated With Extrapulmonary Small Cell Cancer Detected by 18F-FDG PET/CT. 38
30080186 2018
30
Lambert-Eaton Myasthenic Syndrome Caused by Nivolumab in a Patient with Squamous Cell Lung Cancer. 38
30627102 2018
31
Low specificity of voltage-gated calcium channel antibodies in Lambert-Eaton myasthenic syndrome: a call for caution. 38
29987589 2018
32
Lambert-Eaton Myasthenic Syndrome Associated with Synchronous Double Cancer: A Combination of Small Cell Carcinoma of the Cervix and Breast Carcinoma. 38
29526952 2018
33
Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. 38
29879051 2018
34
Pathogenic Mechanisms and Clinical Correlations in Autoimmune Myasthenic Syndromes. 38
30011414 2018
35
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features. 38
29696584 2018
36
Coexistence of Lambert-Eaton myasthenic syndrome and autoimmune encephalitis with anti-CRMP5/CV2 and anti-GABAB receptor antibodies in small cell lung cancer: A case report. 38
29742721 2018
37
3,4-diaminopyridine in Lambert-Eaton myasthenic syndrome: Concerns regarding presentation of previous studies. 38
29406572 2018
38
Lambert-Eaton Myasthenic Syndrome. 38
29655456 2018
39
3,4-Diaminopyridine for the treatment of myasthenia gravis with electrophysiological patterns of Lambert-Eaton myasthenic syndrome. 38
29402568 2018
40
[P/Q-type Calcium Channel Antibodies in Lambert-Eaton Myasthenic Syndrome]. 38
29632282 2018
41
The possibility of obtaining marketing authorization of orphan pharmaceutical compounding preparations: 3,4-DAP for Lambert-Eaton Myasthenic Syndrome. 38
29191521 2018
42
Lambert-Eaton myasthenic syndrome: the 60th anniversary of Eaton and Lambert's pioneering article. 38
29489969 2018
43
Paraneoplastic Cerebellar Degeneration and Lambert-Eaton Myasthenic Syndrome Associated with Neuroendocrine Carcinoma of the Oropharynx. 38
29093415 2018
44
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. 38
29377152 2018
45
[A retrospective study of the effects of 3,4-diaminopyridine treatment in Lambert-Eaton myasthenic syndrome]. 38
29386498 2018
46
Lambert-Eaton myasthenic syndrome and cerebellar ataxia: is Response to immunotherapy a clue to pathogenesis? 38
29365352 2018
47
Lambert-Eaton myasthenic syndrome: mouse passive-transfer model illuminates disease pathology and facilitates testing therapeutic leads. 38
29125190 2018
48
Myasthenia gravis seronegative for acetylcholine receptor antibodies in South Korea: Autoantibody profiles and clinical features. 38
29518096 2018
49
Stimulated single-fiber electromyography (sSFEMG) in Lambert-Eaton syndrome. 38
30215026 2018
50
Paraneoplastic Lambert-Eaton syndrome in a patient with disseminated metastatic cancer. 38
29681644 2018

Variations for Lambert-Eaton Myasthenic Syndrome

Expression for Lambert-Eaton Myasthenic Syndrome

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

Pathways for Lambert-Eaton Myasthenic Syndrome

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

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 SOX3 SOX2 MUSK CACNB3 CACNB2 CACNA1B
2
Show member pathways
13.07 MUSK CACNB3 CACNB2 CACNA1B CACNA1A
3
Show member pathways
12.82 CACNB3 CACNB2 CACNA1B CACNA1A
4
Show member pathways
12.8 CACNB3 CACNB2 CACNA1B CACNA1A
5
Show member pathways
12.76 SYT2 CACNB3 CACNB2 CACNA1B CACNA1A
6
Show member pathways
12.68 CACNB3 CACNB2 CACNA1B CACNA1A
7
Show member pathways
12.64 CACNB3 CACNB2 CACNA1B CACNA1A
8
Show member pathways
12.62 CACNB3 CACNB2 CACNA1B CACNA1A
9 12.5 CACNB3 CACNB2 CACNA1B CACNA1A
10
Show member pathways
12.37 CACNB3 CACNB2 CACNA1B CACNA1A
11
Show member pathways
12.32 CACNB3 CACNB2 CACNA1B
12
Show member pathways
12.3 CACNB3 CACNA1B CACNA1A
13
Show member pathways
12.14 CACNB3 CACNB2 CACNA1A
14 12.06 CACNB3 CACNB2 CACNA1B CACNA1A
15
Show member pathways
12 TTN CACNB3 CACNB2
16
Show member pathways
11.99 CACNB3 CACNB2 CACNA1B CACNA1A
17
Show member pathways
11.92 CACNB3 CACNB2 CACNA1B CACNA1A
18 11.71 CACNB3 CACNB2 CACNA1B CACNA1A
19
Show member pathways
11.57 CACNB3 CACNB2 CACNA1B CACNA1A
20 11.49 CACNB3 CACNB2 CACNA1B CACNA1A
21 11.26 SOX3 SOX2
22 11.22 CACNA1B CACNA1A
23 11.22 CACNB3 CACNB2 CACNA1B CACNA1A
24 11.18 CACNB3 CACNB2
25 11.14 CACNB3 CACNB2 CACNA1B CACNA1A
26 11.02 CACNB3 CACNB2 CACNA1B CACNA1A
27 10.91 CACNA1B CACNA1A
28 10.61 CACNB3 CACNB2 CACNA1B CACNA1A
29 10.6 CACNA1B CACNA1A

GO Terms for Lambert-Eaton Myasthenic Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 9.16 SOX3 SOX2
2 L-type voltage-gated calcium channel complex GO:1990454 8.96 CACNB3 CACNB2
3 voltage-gated calcium channel complex GO:0005891 8.92 CACNB3 CACNB2 CACNA1B CACNA1A

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 ion transport GO:0006811 9.85 CACNB3 CACNB2 CACNA1B CACNA1A
2 chemical synaptic transmission GO:0007268 9.73 CACNB3 CACNB2 CACNA1B CACNA1A
3 regulation of ion transmembrane transport GO:0034765 9.67 CACNB3 CACNB2 CACNA1B CACNA1A
4 calcium ion transport GO:0006816 9.62 CACNB3 CACNB2 CACNA1B CACNA1A
5 neurotransmitter secretion GO:0007269 9.54 SYT2 CACNA1B
6 pituitary gland development GO:0021983 9.52 SOX3 SOX2
7 calcium ion regulated exocytosis GO:0017156 9.51 SYT2 CACNA1A
8 response to pain GO:0048265 9.49 CACNA1B CACNA1A
9 calcium ion-regulated exocytosis of neurotransmitter GO:0048791 9.48 SYT2 CACNA1A
10 regulation of voltage-gated calcium channel activity GO:1901385 9.46 CACNB3 CACNB2
11 calcium ion transmembrane transport GO:0070588 9.46 CACNB3 CACNB2 CACNA1B CACNA1A
12 neuromuscular junction development GO:0007528 9.43 MUSK CACNB3 CACNB2
13 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.4 CACNB3 CACNB2
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 for Lambert-Eaton Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....