MCID: NRM006
MIFTS: 38

Neuromuscular Junction Disease

Categories: Neuronal diseases

Aliases & Classifications for Neuromuscular Junction Disease

MalaCards integrated aliases for Neuromuscular Junction Disease:

Name: Neuromuscular Junction Disease 12 15
Neuromuscular Junction Diseases 45 74

Classifications:



External Ids:

Disease Ontology 12 DOID:439
MeSH 45 D020511
UMLS 74 C0751950

Summaries for Neuromuscular Junction Disease

Disease Ontology : 12 A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction.

MalaCards based summary : Neuromuscular Junction Disease, also known as neuromuscular junction diseases, is related to congenital myasthenic syndrome and lambert-eaton myasthenic syndrome. An important gene associated with Neuromuscular Junction Disease is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways are Transmission across Chemical Synapses and ECM proteoglycans. The drugs Azathioprine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include testes and thymus, and related phenotypes are Increased vaccinia virus (VACV) infection and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 77 Neuromuscular junction disease is a medical condition where the normal conduction through the... more...

Related Diseases for Neuromuscular Junction Disease

Graphical network of the top 20 diseases related to Neuromuscular Junction Disease:



Diseases related to Neuromuscular Junction Disease

Symptoms & Phenotypes for Neuromuscular Junction Disease

GenomeRNAi Phenotypes related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.6 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.5 TMPO
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.5 TMPO
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.5 CHRNA1 RAPSN TMPO
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.5 TMPO
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.5 TMPO

MGI Mouse Phenotypes related to Neuromuscular Junction Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.07 ACHE AGRN BCHE CHRNA1 CHRNE DDX41
2 behavior/neurological MP:0005386 10.02 ACHE AGRN CHRNA1 CHRNE DOK7 KCNA4
3 muscle MP:0005369 9.7 ACHE AGRN CHRNE DOK7 MUSK RAPSN
4 nervous system MP:0003631 9.7 ACHE AGRN CHRNA1 CHRNB1 CHRNE DOK7
5 respiratory system MP:0005388 9.17 ACHE AGRN CHRNE DOK7 LRP4 MUSK

Drugs & Therapeutics for Neuromuscular Junction Disease

Drugs for Neuromuscular Junction Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4,Phase 3,Not Applicable 446-86-6 2265
2
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 1 53-03-2 5865
3 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
4 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
5 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Not Applicable
6 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
7 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
8 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Antitoxins Phase 4,Phase 1
10 Botulinum Toxins Phase 4,Phase 1
11 Botulinum Antitoxin Phase 4,Phase 1
12 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2,Not Applicable
13 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 gamma-Globulins Phase 4,Phase 3,Phase 2,Not Applicable
15 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2,Not Applicable
16 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 1
18 glucocorticoids Phase 4,Phase 3,Phase 1
19 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 1
20 Hormones Phase 4,Phase 3,Phase 1
21 Hormone Antagonists Phase 4,Phase 3,Phase 1
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1
23 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Bromides Phase 4,Phase 3
25 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 1
26 Pyridostigmine Bromide Phase 4,Phase 3 101-26-8
27
Mycophenolic acid Approved Phase 3,Not Applicable 24280-93-1 446541
28
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643 439492
29
Amifampridine Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 54-96-6
30
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
31
tannic acid Approved Phase 3 1401-55-4
32
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
33
Methylprednisolone hemisuccinate Approved Phase 3,Phase 1 2921-57-5
34
Prednisolone phosphate Approved, Vet_approved Phase 3,Phase 1 302-25-0
35
Prednisolone Approved, Vet_approved Phase 3,Phase 1 50-24-8 5755
36
Methylprednisolone Approved, Vet_approved Phase 3,Phase 1 83-43-2 6741
37
Acetylcholine Approved, Investigational Phase 3,Phase 1,Phase 2 51-84-3 187
38
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
39
Aluminum hydroxide Approved, Investigational Phase 2, Phase 3,Phase 1 21645-51-2
40
Leflunomide Approved, Investigational Phase 3 75706-12-6 3899
41
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
42
Tyrosine Approved, Investigational, Nutraceutical Phase 3 60-18-4 6057
43
Prednisolone hemisuccinate Experimental Phase 3,Phase 1 2920-86-7
44 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
45 Antitubercular Agents Phase 3,Not Applicable
46 Antibiotics, Antitubercular Phase 3,Not Applicable
47 Anti-Bacterial Agents Phase 3,Not Applicable
48 Anti-Infective Agents Phase 3,Not Applicable
49 Autonomic Agents Phase 2, Phase 3,Phase 1
50 Anti-Asthmatic Agents Phase 2, Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 119)
# Name Status NCT ID Phase Drugs
1 BT-011 Pharmacokinetics of Botulism Antitoxin Heptavalent in Pediatric Patients Completed NCT02051062 Phase 4
2 Intravenous Immunoglobulin and Plasma Exchange in Myasthenia Gravis Completed NCT01179893 Phase 4
3 Study Comparing Two Tapering Strategies of Prednisone in Myasthenia Gravis Completed NCT00987116 Phase 4 Prednisone - Azathioprine
4 Effect of Pyridostigmine (Mestinon) on Muscle Strength in Myasthenia Gravis Recruiting NCT03510546 Phase 4 Pyridostigmine;Placebo oral capsule
5 An Open Study for Steroid Resistant, Non-Thymectomized MG Patients Completed NCT00309101 Phase 3 tacrolimus
6 Pilot Study on the Usefulness of 3,4-diaminopyridine in the Treatment of Botulism Completed NCT01441557 Phase 2, Phase 3 3,4-diaminopyridine
7 Phase 3 Study to Evaluate Efficacy of Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS) Completed NCT02970162 Phase 3 Amifampridine Phosphate;Placebo Oral Tablet
8 A Study to Assess the Efficacy and Safety of IGIV-C in Patients With Myasthenia Gravis Exacerbations Completed NCT02413580 Phase 3
9 Safety and Efficacy of Eculizumab in Refractory Generalized Myasthenia Gravis (REGAIN Study) Completed NCT01997229 Phase 3 Placebo
10 A Phase 3 Study of Amifampridine Phosphate in Patients With Lambert Eaton Myasthenic Syndrome (LEMS) Completed NCT01377922 Phase 3 Amifampridine Phosphate;Placebo
11 A Study to Compare the Efficacy and Safety of Tacrolimus Capsules in Patient With Myasthenia Gravis Completed NCT01325571 Phase 3 Tacrolimus capsule;Placebo
12 A Study to Assess the Effect of CellCept (Mycophenolate Mofetil) and Reduced Corticosteroids in Controlling Symptoms of Myasthenia Gravis Completed NCT00683969 Phase 3 mycophenolate mofetil (CellCept);placebo
13 Efficacy and Safety Study of GB-0998 for Treatment of Generalized Myasthenia Gravis Completed NCT00515450 Phase 3
14 A Continuation Study to Assess the Effect of CellCept in Patients With Myasthenia Gravis. Completed NCT00408213 Phase 3 mycophenolate mofetil [CellCept];Placebo
15 FK506 Phase 3 Study: a Study for Steroid Non-resistant Myasthenia Gravis (MG) Patients Completed NCT00309088 Phase 3 tacrolimus;placebo
16 Intravenous Immune Globulin Treatment Compared to Placebo in Patients With Myasthenia Gravis Completed NCT00306033 Phase 3 Intravenous ImmuneGlobulin
17 Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone Therapy Completed NCT00294658 Phase 3 prednisone alone
18 Mycophenolate Mofetil in Myasthenia Gravis Completed NCT00285350 Phase 3 mycophenolate mofetil
19 Study to Evaluate Amifampridine Phosphate in Patients With MuSK-MG Recruiting NCT03304054 Phase 3 Amifampridine Phosphate;Placebo Oral Tablet
20 A Pilot Trial To Assess The Feasibility And Efficacy Of SCIG In Patients With MG Exacerbation (SCIG-MG) Recruiting NCT02774239 Phase 3 Human normal immunoglobulin G (IgG)
21 The Efficacy and Safety of Leflunomide or Azathioprine Therapy in Myasthenia Gravis Patients After Expand Thymectomy Recruiting NCT01727193 Phase 3 Azathioprine;Leflunomide
22 Safety and Efficacy Study of Ravulizumab in Adults With Generalized Myasthenia Gravis Recruiting NCT03920293 Phase 3 Placebo
23 Beta-agonist Efficacy and Tolerability as Adjuvant Therapy in Myasthenia Gravis Recruiting NCT03914638 Phase 2, Phase 3 Salbutamol 4Mg Tablet;Placebo oral capsule
24 A Safety and Tolerability Study of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness. Recruiting NCT03770403 Phase 3
25 A Phase 3 Open-Label Study of Eculizumab in Pediatric Participants With Refractory Generalized Myasthenia Gravis (gMG) Recruiting NCT03759366 Phase 3 Eculizumab
26 An Efficacy and Safety Study of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness Recruiting NCT03669588 Phase 3
27 Long Term Safety Study of Amifampridine Phosphate in MuSK-MG (Muscle Specific Tyrosine Kinase Myasthenia Gravis) Recruiting NCT03579966 Phase 3 Amifampridine Phosphate
28 A Study Evaluating the Safety and Efficacy of Rituximab in Patients With Myasthenia Gravis Recruiting NCT02950155 Phase 3 Rituximab;Sodium Chloride solution
29 Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes Recruiting NCT02562066 Phase 3 amifampridine phosphate;Placebo
30 ECU-MG-302: An Extension Trial of ECU-MG-301 to Evaluate Safety and Efficacy of Eculizumab in Refractory Generalized Myasthenia Gravis Active, not recruiting NCT02301624 Phase 3
31 Efficacy of Prednisone In the Treatment of Ocular Myasthenia Terminated NCT00995722 Phase 3 Prednisone;Placebo
32 Phase 3, Randomized, Safety, Lot Consistency and Clinical Benefit Study of Recombinant Botulinum Vaccine A/B Withdrawn NCT01940315 Phase 3
33 A Study to Evaluate the Efficacy of CV-MG01 (Myasterix) in Myasthenia Gravis Withdrawn NCT03165435 Phase 2, Phase 3
34 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2 Ephedrine
35 The Evaluation of Belimumab in Myasthenia Gravis (MG) Completed NCT01480596 Phase 2
36 Safety, Tolerability, and Immunogenicity Study of Investigational Recombinant Botulinum Vaccine A/B (rBV A/B) in Volunteers Previously Immunized With Investigational Pentavalent Botulinum Toxoid Completed NCT01701999 Phase 2
37 Study to Test the Safety, Tolerability and Efficacy of UCB7665 in Subjects With Moderate to Severe Myasthenia Gravis. Completed NCT03052751 Phase 2 UCB7665
38 A Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of ARGX-113 in Patients With Myasthenia Gravis Who Have Generalized Muscle Weakness Completed NCT02965573 Phase 2 Placebo
39 Safety, Tolerability and Immunogenic Response of CV-MG01 in Patients With Myasthenia Gravis Completed NCT02609022 Phase 1, Phase 2
40 Safety,Tolerability,Pharmacokinetics and Efficacy of CFZ533 in Moderate to Severe Myasthenia Gravis Completed NCT02565576 Phase 2 Placebo;CFZ533
41 Efficacy and Safety of IGIV-C in Corticosteroid Dependent Patients With Generalized Myasthenia Gravis Completed NCT02473965 Phase 2 IGIV-C;Placebo
42 A Study to Evaluate the Efficacy and Safety of IGIV-C in Symptomatic Subjects With Generalized Myasthenia Gravis Completed NCT02473952 Phase 2 IGIV-C;Placebo
43 Double Blind, Safety and Immunogenicity Study of Recombinant Botulinum Vaccine A/B Completed NCT00764634 Phase 2
44 BeatMG: Phase II Trial of Rituximab In Myasthenia Gravis Completed NCT02110706 Phase 2 Rituximab;Placebo
45 Effectiveness of 3,4-Diaminopyridine in Lambert-Eaton Myasthenic Syndrome Completed NCT01511978 Phase 2 Continuous 3,4-DAP;Taper 3,4-DAP to Placebo
46 Efficacy of Methotrexate in Myasthenia Gravis Completed NCT00814138 Phase 2 Methotrexate
47 Rituximab for the Treatment of Refractory Inflammatory Myopathies and Refractory Myasthenia Gravis Completed NCT00774462 Phase 2 Rituximab
48 A Pilot Trial of Rituxan in Refractory Myasthenia Gravis Completed NCT00619671 Phase 1, Phase 2 Rituximab (Rituxan)
49 The Safety and Efficacy of "3-Hole" Subxiphorid Approach in the Treatment of Anterior Mediastinal Tumor Recruiting NCT02317224 Phase 2
50 Tolerability and Immunogenicity of rBV A/B for the Production of BabyBIG® Recruiting NCT03676634 Phase 2

Search NIH Clinical Center for Neuromuscular Junction Disease

Cochrane evidence based reviews: neuromuscular junction diseases

Genetic Tests for Neuromuscular Junction Disease

Anatomical Context for Neuromuscular Junction Disease

MalaCards organs/tissues related to Neuromuscular Junction Disease:

42
Testes, Thymus

Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

# Title Authors Year
1
Motor neuron, nerve, and neuromuscular junction disease. ( 21825986 )
2011
2
Neuromuscular junction disease or neuropathic disorder? ( 20581646 )
2010
3
Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. ( 6302497 )
1982

Variations for Neuromuscular Junction Disease

Expression for Neuromuscular Junction Disease

Search GEO for disease gene expression data for Neuromuscular Junction Disease.

Pathways for Neuromuscular Junction Disease

GO Terms for Neuromuscular Junction Disease

Cellular components related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.9 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
2 neuron projection GO:0043005 9.88 CHRNA1 CHRNB1 CHRND CHRNE IQGAP1
3 postsynaptic membrane GO:0045211 9.8 CHRNA1 CHRNB1 CHRND CHRNE KCNH1 MUSK
4 synapse GO:0045202 9.7 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
5 basement membrane GO:0005604 9.67 ACHE AGRN COLQ
6 acetylcholine-gated channel complex GO:0005892 9.62 CHRNA1 CHRNB1 CHRND CHRNE
7 integral component of postsynaptic specialization membrane GO:0099060 9.61 CHRNA1 CHRNB1 CHRND
8 synaptic cleft GO:0043083 9.51 ACHE COLQ
9 neuromuscular junction GO:0031594 9.28 ACHE CHRNA1 CHRNB1 CHRND CHRNE COLQ
10 membrane GO:0016020 10.36 ACHE AGRN BCHE CHRNA1 CHRNB1 CHRND
11 plasma membrane GO:0005886 10.27 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
12 integral component of plasma membrane GO:0005887 10.06 CHRNA1 CHRNB1 CHRND CHRNE KCNA4 KCNH1

Biological processes related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.93 CHRNA1 CHRNB1 CHRND CHRNE KCNH1
2 chemical synaptic transmission GO:0007268 9.91 CHRNA1 CHRNB1 CHRND CHRNE RAPSN
3 muscle contraction GO:0006936 9.83 CHRNB1 CHRND CHRNE TTN
4 cation transport GO:0006812 9.76 CHRNA1 CHRNB1 CHRND
5 excitatory postsynaptic potential GO:0060079 9.76 CHRNA1 CHRNB1 CHRND CHRNE
6 nervous system process GO:0050877 9.73 CHRNA1 CHRNB1 CHRND CHRNE
7 regulation of membrane potential GO:0042391 9.72 CHRNA1 CHRNB1 CHRND CHRNE KCNH1
8 regulation of postsynaptic membrane potential GO:0060078 9.71 CHRNA1 CHRNB1 CHRND CHRNE
9 skeletal muscle contraction GO:0003009 9.65 CHRNA1 CHRNB1 CHRND
10 negative regulation of axonogenesis GO:0050771 9.59 LRP4 OMG
11 neurotransmitter catabolic process GO:0042135 9.58 ACHE COLQ
12 musculoskeletal movement GO:0050881 9.56 CHRNA1 CHRND
13 response to nicotine GO:0035094 9.56 CHRNA1 CHRNB1 CHRND CHRNE
14 skeletal muscle tissue growth GO:0048630 9.55 CHRNA1 CHRND
15 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.54 COLQ LRP4 MUSK
16 acetylcholine catabolic process in synaptic cleft GO:0001507 9.49 ACHE COLQ
17 neuromuscular synaptic transmission GO:0007274 9.46 CHRNA1 CHRNB1 CHRND CHRNE
18 regulation of synaptic growth at neuromuscular junction GO:0008582 9.13 AGRN COLQ MUSK
19 synaptic transmission, cholinergic GO:0007271 9.02 CHRNA1 CHRNB1 CHRND CHRNE RAPSN
20 ion transport GO:0006811 10.04 CHRNA1 CHRNB1 CHRND CHRNE KCNA4 KCNH1

Molecular functions related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.8 CHRNA1 CHRNB1 CHRND CHRNE KCNH1
2 extracellular ligand-gated ion channel activity GO:0005230 9.67 CHRNA1 CHRNB1 CHRND CHRNE
3 transmembrane signaling receptor activity GO:0004888 9.65 CHRNA1 CHRNB1 CHRND
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.56 CHRNA1 CHRNB1 CHRND CHRNE
5 laminin binding GO:0043236 9.49 ACHE AGRN
6 cholinesterase activity GO:0004104 9.46 ACHE BCHE
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.46 CHRNA1 CHRNB1 CHRND CHRNE
8 acetylcholinesterase activity GO:0003990 9.43 ACHE BCHE
9 ligand-gated ion channel activity GO:0015276 9.32 CHRNB1 CHRND
10 acetylcholine receptor activity GO:0015464 9.26 CHRNA1 CHRNB1 CHRND CHRNE
11 acetylcholine binding GO:0042166 9.02 ACHE CHRNA1 CHRNB1 CHRND CHRNE

Sources for Neuromuscular Junction Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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