MCID: LMB002
MIFTS: 57

Lambert-Eaton Myasthenic Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Lambert-Eaton Myasthenic Syndrome

MalaCards integrated aliases for Lambert-Eaton Myasthenic Syndrome:

Name: Lambert-Eaton Myasthenic Syndrome 12 54 59 37 55 44 15 73
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
Lambert-Eaton 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
ICD10 33 G70.80 G73.1
ICD9CM 35 358.3
MeSH 44 D015624
NCIt 50 C3155
SNOMED-CT 68 230688006 56989000
Orphanet 59 ORPHA43393
MESH via Orphanet 45 D015624
UMLS via Orphanet 74 C0022972
ICD10 via Orphanet 34 G73.1
KEGG 37 H01596
UMLS 73 C0022972

Summaries for Lambert-Eaton Myasthenic Syndrome

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.

MalaCards based summary : Lambert-Eaton Myasthenic Syndrome, also known as lems, is related to paraneoplastic cerebellar degeneration and congenital myasthenic syndrome. 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 Transmission across Chemical Synapses and BMP Pathway. The drugs 4-Aminopyridine and 3,4-diaminopyridine have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and prostate, and related phenotypes are xerostomia and reduced tendon reflexes

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.

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.

Wikipedia : 76 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 84)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic cerebellar degeneration 30.1 CACNA1A ENO2
2 congenital myasthenic syndrome 28.7 CACNA1A MUSK SYT2
3 paraneoplastic syndromes 11.8
4 myasthenic syndrome, congenital, 7, presynaptic 11.4
5 paraneoplastic neurologic disorders 11.4
6 tularemia 10.9
7 lung cancer 10.9
8 lambert syndrome 10.9
9 myasthenia gravis 10.9
10 myasthenia gravis congenital 10.9
11 small cell cancer of the lung 10.9
12 cerebellar degeneration 10.7
13 small cell carcinoma 10.6
14 respiratory failure 10.6
15 adenocarcinoma 10.5
16 neuronitis 10.5
17 subacute cerebellar degeneration 10.5
18 lupus erythematosus 10.4
19 systemic lupus erythematosus 10.4
20 aceruloplasminemia 10.4
21 lung cancer susceptibility 3 10.4
22 ataxia-oculomotor apraxia 3 10.4
23 polyglucosan body myopathy 1 with or without immunodeficiency 10.4
24 arthritis 10.4
25 dermatomyositis 10.4
26 merkel cell carcinoma 10.4
27 mediastinitis 10.4
28 neuropathy 10.4
29 encephalitis 10.4
30 autonomic dysfunction 10.4
31 rheumatoid arthritis 10.3
32 neuroblastoma 10.3
33 leukemia 10.3
34 prostatitis 10.3
35 transitional cell carcinoma 10.3
36 limbic encephalitis 10.3
37 autoimmune disease 10.1
38 leiomyoma, uterine 10.1
39 strabismus 10.1
40 thrombocytopenic purpura, autoimmune 10.1
41 suppression of tumorigenicity 12 10.1
42 wilms tumor 5 10.1
43 panbronchiolitis, diffuse 10.1
44 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 10.1
45 psoriatic arthritis 10.1
46 autoimmune disease 1 10.1
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
48 autoimmune lymphoproliferative syndrome, type v 10.1
49 wilms tumor 6 10.1
50 glomerulonephritis 10.1

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 16)
# 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 dysautonomia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002459
4 progressive proximal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0009073
5 calcium channel antibody positivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0030209
6 impotence 59 32 frequent (33%) Frequent (79-30%) HP:0000802
7 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
8 bulbar signs 59 32 frequent (33%) Frequent (79-30%) HP:0002483
9 small cell lung carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0030357
10 hypohidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000966
11 keratoconjunctivitis sicca 59 32 occasional (7.5%) Occasional (29-5%) HP:0001097
12 orthostatic hypotension due to autonomic dysfunction 59 32 occasional (7.5%) Occasional (29-5%) HP:0004926
13 emg: decremental response of compound muscle action potential to repetitive nerve stimulation 59 Very frequent (99-80%)
14 emg: repetitive nerve stimulation abnormality 59 Very frequent (99-80%)
15 abnormality of the orbital region 59 Frequent (79-30%)
16 emg 32 hallmark (90%) HP:0003403

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 9.97 CACNA1A CACNA1B ENO2 MUSK SOX2 SOX3
2 growth/size/body region MP:0005378 9.91 CACNA1A CACNA1B CACNB2 ENO2 MUSK SOX2
3 homeostasis/metabolism MP:0005376 9.76 CACNA1A CACNA1B CACNB2 ERC1 MUSK SOX2
4 craniofacial MP:0005382 9.72 SOX3 TTN CACNB2 ENO2 SOX2
5 mortality/aging MP:0010768 9.61 SYT2 TTN CACNA1A CACNA1B CACNB2 ERC1
6 nervous system MP:0003631 9.23 CACNA1A CACNA1B CACNB2 ENO2 MUSK SOX2

Drugs & Therapeutics for Lambert-Eaton Myasthenic Syndrome

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
4-Aminopyridine Approved Phase 3,Phase 2,Not Applicable 504-24-5 1727
2 3,4-diaminopyridine Phase 3,Phase 2,Not Applicable
3 Potassium Channel Blockers Phase 3,Phase 2,Not Applicable
4
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
5
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
6 Adrenergic Agents Phase 1, Phase 2
7 Anti-Asthmatic Agents Phase 1, Phase 2
8 Autonomic Agents Phase 1, Phase 2
9 Bronchodilator Agents Phase 1, Phase 2
10 Central Nervous System Stimulants Phase 1, Phase 2
11 Nasal Decongestants Phase 1, Phase 2
12 Neurotransmitter Agents Phase 1, Phase 2
13 Peripheral Nervous System Agents Phase 1, Phase 2
14 Respiratory System Agents Phase 1, Phase 2
15 Vasoconstrictor Agents Phase 1, Phase 2
16 Adrenergic Agonists Phase 1
17 Adrenergic beta-2 Receptor Agonists Phase 1
18 Adrenergic beta-Agonists Phase 1
19 Albuterol Phase 1
20 Tocolytic Agents Phase 1
21
nivolumab Approved 946414-94-4

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Study of Amifampridine Phosphate in Patients With Lambert Eaton Myasthenic Syndrome (LEMS) Completed NCT01377922 Phase 3 Amifampridine Phosphate;Placebo
2 Phase 3 Study to Evaluate Efficacy of Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS) Completed NCT02970162 Phase 3 Amifampridine Phosphate;Placebo Oral Tablet
3 Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes Recruiting NCT02562066 Phase 3 amifampridine phosphate;Placebo
4 Long-term Safety and Efficacy Extension Study for Participants With Advanced Tumors Who Are Currently on Treatment or in Follow-up in a Pembrolizumab (MK-3475) Study (MK-3475-587/KEYNOTE-587) Not yet recruiting NCT03486873 Phase 3 Standard of Care (SOC)
5 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2 Ephedrine
6 Effectiveness of 3,4-Diaminopyridine in Lambert-Eaton Myasthenic Syndrome Completed NCT01511978 Phase 2 Continuous 3,4-DAP;Taper 3,4-DAP to Placebo
7 Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes Completed NCT01203592 Phase 1 Albuterol
8 Randomized Study of 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome Completed NCT00004832 Not Applicable 3,4-diaminopyridine
9 Pregnancy Outcomes in Congenital Myasthenie Syndrome Completed NCT01474980
10 3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS) Recruiting NCT00872950 Not Applicable 3,4-DIAMINOPYRIDINE;3,4-Diaminopyridine
11 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
12 National Registry for Egyptian Pediatric Neuromuscular Diseases Recruiting NCT02124616
13 Pattern of Use and Safety/Effectiveness of Nivolumab in Routine Oncology Practice Recruiting NCT02847728
14 Observational Study of Nivolumab in Patients in Germany With Squamous Cell Carcinoma of the Head and Neck Progressing on or After Platinum-Based Therapy Recruiting NCT03114163
15 Treatment of Lambert-Eaton Syndrome With 3,4 Diaminopyridine Available NCT00994916 3,4 diaminopyridine
16 Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome Available NCT03062631 3,4-Diaminopyridine
17 Treatment of Lambert-Eaton Syndrome With 3,4 DAP Available NCT00704925 3, 4 DAP
18 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM) Available NCT02012933 3,4-diaminopyridine
19 Use of 3,4-Diaminopyridine in the Treatment of Lambert-Eaton Syndrome Available NCT01825395 3, 4-Diaminopyridine
20 Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus Patients Available NCT02189720 Amifampridine Phosphate
21 Treatment Use of 3,4-Diaminopyridine Available NCT01765140 3,4-diaminopyridine;3,4-diaminopyridine
22 Controlled Trial of 3,4-Diaminopyridine (3-4DAP) in Lambert-Eaton Myasthenic Syndrome (LEMS) Enrolling by invitation NCT02090725 Not Applicable 3-4 Diaminopyridine
23 Use Of 3,4-Diaminopyridine (3,4-DAP) In The Treatment Of Lambert Eaton Myasthenic Syndrome No longer available NCT01373333 3,4 DAP
24 Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAP No longer available NCT01378546 3,4-diaminopyridine

Search NIH Clinical Center for Lambert-Eaton Myasthenic Syndrome

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, Prostate, B Cells, Pituitary, T Cells, Cervix

Publications for Lambert-Eaton Myasthenic Syndrome

Articles related to Lambert-Eaton Myasthenic Syndrome:

(show top 50) (show all 399)
# Title Authors Year
1
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. ( 29742721 )
2018
2
Lambert Eaton Myasthenic Syndrome ( 29939668 )
2018
3
Paraneoplastic Cerebellar Degeneration and Lambert-Eaton Myasthenic Syndrome Associated with Neuroendocrine Carcinoma of the Oropharynx. ( 29093415 )
2018
4
3,4-Diaminopyridine for the treatment of myasthenia gravis with electrophysiological patterns of Lambert-Eaton myasthenic syndrome. ( 29402568 )
2018
5
Lambert-Eaton myasthenic syndrome: the 60th anniversary of Eaton and Lambert's pioneering article. ( 29489969 )
2018
6
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features. ( 29696584 )
2018
7
Lambert-Eaton Myasthenic Syndrome. ( 29655456 )
2018
8
Lambert-Eaton Myasthenic Syndrome Associated with Synchronous Double Cancer: A Combination of Small Cell Carcinoma of the Cervix and Breast Carcinoma. ( 29526952 )
2018
9
3,4-diaminopyridine in Lambert-Eaton myasthenic syndrome: Concerns regarding presentation of previous studies. ( 29406572 )
2018
10
Lambert-Eaton myasthenic syndrome and cerebellar ataxia: Is response to immunotherapy a clue to pathogenesis? ( 29365352 )
2018
11
The possibility of obtaining marketing authorization of orphan pharmaceutical compounding preparations: 3,4-DAP for Lambert-Eaton Myasthenic Syndrome. ( 29191521 )
2018
12
Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. ( 29879051 )
2018
13
Lambert-Eaton myasthenic syndrome: mouse passive-transfer model illuminates disease pathology and facilitates testing therapeutic leads. ( 29125190 )
2018
14
Lambert-Eaton Myasthenic Syndrome with A Twenty-Three-Year Delay in Diagnosis. ( 28680320 )
2017
15
Pure Ocular Weakness as the Initial Manifestation of Lambert-Eaton Myasthenic Syndrome. ( 29507855 )
2017
16
Long-term survival in paraneoplastic Lambert-Eaton myasthenic syndrome. ( 28251917 )
2017
17
Adenocarcinoma of Lung Presenting as Lambert-Eaton Myasthenic Syndrome. ( 28785598 )
2017
18
Pediatric Lambert-Eaton Myasthenic Syndrome. ( 28178777 )
2017
19
Distinguishing Features of the Repetitive Nerve Stimulation Test Between Lambert-Eaton Myasthenic Syndrome and Myasthenia Gravis, 50-Year Reappraisal. ( 29189551 )
2017
20
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer. ( 28608304 )
2017
21
Paraneoplastic Lambert-Eaton Myasthenic Syndrome With Limbic Encephalitis: Clinical Correlation With the Coexistence of Anti-VGCC and Anti-GABAB Receptor Antibodies. ( 29189554 )
2017
22
Lambert-Eaton myasthenic syndrome with anti-acetylcholine receptor antibody and anterior mediastinal tumor. ( 29264043 )
2017
23
Ophthalmoplegia associated with lung adenocarcinoma in a patient with the Lambert-Eaton myasthenic syndrome: A case report. ( 28562525 )
2017
24
Lambert-Eaton myasthenic syndrome (LEMS): Epidemiology and therapeutic response in the national Veterans Affairs (VA) population. ( 27997683 )
2016
25
Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome. ( 27922503 )
2016
26
Relapse of both small cell lung cancer and Lambert-Eaton myasthenic syndrome after a 13-year disease-free survival period. ( 27370896 )
2016
27
Modelling the response to low-frequency repetitive nerve stimulation of myasthenia gravis and Lambert-Eaton myasthenic syndrome. ( 27016366 )
2016
28
Successful treatment of Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient using 3,4-diaminopyridine: A case report. ( 26998103 )
2016
29
Palliative care for a patient with Lambert-Eaton myasthenic syndrome: role of 3,4-diaminopyridine. ( 27506750 )
2016
30
Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome. ( 27816328 )
2016
31
Lambert-Eaton myasthenic syndrome in a patient with small-cell lung cancer: A case report. ( 26622673 )
2015
32
Lambert-Eaton myasthenic syndrome associated with thymic neuroendocrine carcinoma. ( 25702627 )
2015
33
Lambert-Eaton myasthenic syndrome and Merkel cell carcinoma. ( 26452332 )
2015
34
Mediastinal small cell cancer associated with Lambert-Eaton myasthenic syndrome: A case report. ( 26170921 )
2015
35
Lambert-Eaton Myasthenic Syndrome: Ocular Signs and Symptoms. ( 25993122 )
2015
36
Lambert-Eaton myasthenic syndrome and prostatic adenocarcinoma. ( 26143177 )
2015
37
Repetitive nerve stimulation and single-fiber electromyography in the evaluation of patients with suspected myasthenia gravis or Lambert-Eaton myasthenic syndrome: Review of recent literature. ( 26109387 )
2015
38
Efficacy of intravenous immunoglobulin for treatment of Lambert-Eaton myasthenic syndrome without anti-presynaptic P/Q-type voltage-gated calcium channel antibodies: a case report. ( 25444432 )
2015
39
Lambert-Eaton myasthenic syndrome in patients with small cell lung cancer: Report of five cases. ( 26323934 )
2015
40
Presynaptic Disorders: Lambert-Eaton Myasthenic Syndrome and Botulism. ( 26502758 )
2015
41
Lambert-Eaton myasthenic syndrome associated to Merkel cell carcinoma: report of a case. ( 25698125 )
2015
42
Long-term observation of incremental response and antibodies to voltage-gated calcium channels in patients with Lambert-Eaton myasthenic syndrome: two case reports. ( 25885033 )
2015
43
Lambert-Eaton myasthenic syndrome during anesthesia: a report of 37 patients. ( 25468580 )
2014
44
Surgery results in complete cure of Lambert-Eaton myasthenic syndrome in a patient with metastatic Merkel cell carcinoma. ( 24704152 )
2014
45
Lung squamous carcinoma with two paraneoplastic syndromes -Dermatomyositis and Lambert-Eaton myasthenic syndrome. ( 25335449 )
2014
46
Proteasome inhibitors for malignancy-related Lambert-Eaton myasthenic syndrome. ( 24464710 )
2014
47
Limbic encephalitis and Lambert Eaton myasthenic syndrome - An immunological profile of a new syndrome. ( 24269050 )
2014
48
Conjoint occurrence of GABAB receptor antibodies in Lambert-Eaton myasthenic syndrome with antibodies to the voltage gated calcium channel. ( 24929678 )
2014
49
The exhaustibility of Lambert-Eaton myasthenic syndrome. ( 24125855 )
2014
50
Synaptic Pathophysiology and Treatment of Lambert-Eaton Myasthenic Syndrome. ( 25195700 )
2014

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 CACNA1A CACNA1B CACNB2 SYT2
2
Show member pathways
12.16 CACNA1A CACNA1B CACNB2
3
Show member pathways
12.06 CACNA1A CACNA1B CACNB2
4 11.96 CACNA1A CACNA1B CACNB2
5
Show member pathways
11.9 CACNA1A CACNA1B CACNB2
6 11.65 CACNA1A CACNA1B CACNB2
7
Show member pathways
11.55 CACNA1A CACNA1B CACNB2
8 11.14 SOX2 SOX3
9 11.06 CACNA1A CACNA1B
10 10.9 CACNA1A CACNA1B CACNB2
11 10.73 CACNA1A CACNA1B
12 10.49 CACNA1A CACNA1B CACNB2
13 10.23 CACNA1A CACNA1B

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 synapse GO:0045202 9.35 CACNA1A CACNA1B ERC1 MUSK SYT2
2 voltage-gated calcium channel complex GO:0005891 8.8 CACNA1A CACNA1B CACNB2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.69 CACNA1A CACNA1B CACNB2
2 negative regulation of neuron differentiation GO:0045665 9.54 SOX2 SOX3
3 neurotransmitter secretion GO:0007269 9.52 CACNA1B SYT2
4 regulation of ion transmembrane transport GO:0034765 9.5 CACNA1A CACNA1B CACNB2
5 calcium ion-regulated exocytosis of neurotransmitter GO:0048791 9.49 CACNA1A SYT2
6 regulation of calcium ion-dependent exocytosis GO:0017158 9.48 CACNA1A SYT2
7 neuromuscular junction development GO:0007528 9.46 CACNB2 MUSK
8 membrane depolarization during action potential GO:0086010 9.43 CACNA1A CACNA1B
9 pituitary gland development GO:0021983 9.4 SOX2 SOX3
10 membrane depolarization GO:0051899 9.37 CACNA1A CACNA1B
11 calcium ion transport GO:0006816 9.33 CACNA1A CACNA1B CACNB2
12 response to pain GO:0048265 9.26 CACNA1A CACNA1B
13 calcium ion transmembrane transport GO:0070588 9.13 CACNA1A CACNA1B CACNB2
14 calcium ion import GO:0070509 8.8 CACNA1A CACNA1B CACNB2

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 9.33 CACNA1A CACNA1B CACNB2
2 cation channel activity GO:0005261 9.26 CACNA1A CACNA1B
3 voltage-gated calcium channel activity GO:0005245 9.13 CACNA1A CACNA1B CACNB2
4 high voltage-gated calcium channel activity GO:0008331 8.8 CACNA1A CACNA1B CACNB2

Sources for Lambert-Eaton Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....