MCID: NRM006
MIFTS: 38

Neuromuscular Junction Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Neuromuscular Junction Disease

MalaCards integrated aliases for Neuromuscular Junction Disease:

Name: Neuromuscular Junction Disease 12 58 15
Neuromuscular Junction Diseases 43 71

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:439
MeSH 43 D020511
MESH via Orphanet 44 D020511
ICD10 via Orphanet 33 G70.0 G70.1 G70.2 more
UMLS via Orphanet 72 C0751950
Orphanet 58 ORPHA98491
UMLS 71 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 myasthenia gravis. An important gene associated with Neuromuscular Junction Disease is ICOSLG (Inducible T Cell Costimulator Ligand), and among its related pathways/superpathways are Postsynaptic nicotinic acetylcholine receptors and Innate Lymphoid Cell Differentiation Pathways. The drugs Rocuronium and Neuromuscular Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, thymus and lung, and related phenotypes are mortality/aging and nervous system

Wikipedia : 74 Neuromuscular junction disease is a medical condition where the normal conduction through the... more...

Related Diseases for Neuromuscular Junction Disease

Diseases in the Neuromuscular Junction Disease family:

Acquired Neuromuscular Junction Disease

Diseases related to Neuromuscular Junction Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 296)
# Related Disease Score Top Affiliating Genes
1 congenital myasthenic syndrome 31.4 TTN SERPINA3 RAPSN MUSK LRP4 DOK7
2 myasthenia gravis 30.7 TTN RAPSN MUSK LRP4 CHRNE CHRNA1
3 immune-mediated acquired neuromuscular junction disease 12.5
4 acquired neuromuscular junction disease 12.5
5 genetic neuromuscular junction disease 12.5
6 lambert-eaton myasthenic syndrome 11.6
7 sclerosteosis 2 10.7 RAPSN LRP4 DOK7
8 mikulicz disease 10.7 ICOSLG CD4 CCR6
9 chronic conjunctivitis 10.7 ICOSLG CD4 CCR6
10 acute proliferative glomerulonephritis 10.7 ICOSLG CD4 CCR6
11 nut allergy 10.7 ICOSLG CD4 CCR6
12 protoporphyria, erythropoietic, 1 10.7 RAPSN MUSK DOK7
13 cork-handlers' disease 10.7 CD8A CD4
14 igg4-related disease 10.7 ICOSLG CD4 CCR6
15 fetal akinesia deformation sequence 1 10.7 RAPSN MUSK DOK7
16 myasthenic syndrome, congenital, 19 10.7 CHRNE CHRND CHRNB1
17 syphilitic meningitis 10.7 CD8A CD4
18 gastric squamous cell carcinoma 10.7 SERPINA3 CCR6
19 multiple pterygium syndrome, lethal type 10.7 RAPSN CHRND CHRNA1
20 ventilation pneumonitis 10.7 CD8A CD4
21 bullous skin disease 10.7 ICOSLG CD4 CCR6
22 autoimmune vasculitis 10.7 H2AC18 CD4 CCR6
23 myasthenic syndrome, congenital, 21, presynaptic 10.7 DOK7 COLQ
24 diffuse infiltrative lymphocytosis syndrome 10.7 CD8A CD4
25 autoimmune lymphoproliferative syndrome, type iia 10.7 CD8A CD4
26 spongiotic dermatitis 10.7 CD8A CD4 CCR6
27 thrombocytopenic purpura, autoimmune 10.7 ICOSLG CD4 CCR6
28 common cold 10.7 ICOSLG CD4 CCR6
29 autoimmune neuropathy 10.7 ICOSLG DDX41 CD4
30 neonatal myasthenia gravis 10.7 MUSK LRP4 COLQ AGRN
31 dendritic cell thymoma 10.7 TTN CHRNA1 CD4
32 esophageal candidiasis 10.7 CD8A CD4 CCR6
33 pneumonic tularemia 10.7 CD8A CD4 CCR6
34 blastomycosis 10.7 CD8A CD4 CCR6
35 immune-complex glomerulonephritis 10.7 ICOSLG H2AC18 CD4
36 chromosome 14q11-q22 deletion syndrome 10.7 CD8A CD4
37 immunodeficiency with hyper-igm, type 3 10.7 ICOSLG CD8A CD4
38 diabetes mellitus, insulin-dependent, 23 10.7 CD8A CD4
39 cecal disease 10.7 SERPINA3 H2AC18 CCR6
40 t-cell adult acute lymphocytic leukemia 10.7 CD8A CD4 CCR6
41 adult acute lymphocytic leukemia 10.7 CD8A CD4 CCR6
42 primary systemic mycosis 10.7 CD8A CD4 CCR6
43 bird fancier's lung 10.7 CD8A CD4
44 pneumocystosis 10.7 CD8A CD4 CCR6
45 early yaws 10.7 CD8A CD4
46 plasma protein metabolism disease 10.7 SERPINA3 CD4 CCR6
47 blepharitis 10.7 CD8A CD4 CCR6
48 functional colonic disease 10.7 BCHE ACHE
49 latent syphilis 10.7 DDX41 CD4
50 gingival disease 10.7 SERPINA3 CD4 CCR6

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



Diseases related to Neuromuscular Junction Disease

Symptoms & Phenotypes for Neuromuscular Junction Disease

MGI Mouse Phenotypes related to Neuromuscular Junction Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 ACHE AGRN BCHE CD4 CD8A CHRNA1
2 nervous system MP:0003631 9.4 ACHE AGRN CCR6 CD4 CD8A CHRNA1

Drugs & Therapeutics for Neuromuscular Junction Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved 119302-91-9, 143558-00-3 441290
2 Neuromuscular Agents
3 Neuromuscular Blocking Agents
4 Neuromuscular Nondepolarizing Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Type II Diabetes Mellitus With Neuropathy on the Clinical Use of Rocuronium: A Pharmacodynamic Modelling Study Recruiting NCT03737942
2 The Impact of Myasthenia Gravis in the Real World Not yet recruiting NCT04176211

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:

40
Skin, Thymus, Lung, T Cells, B Cells, Eye, Bone

Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

(show all 29)
# Title Authors PMID Year
1
Use of sugammadex in patients with neuromuscular disorders: a systematic review of case reports. 61
31744470 2019
2
Paraneoplastic Syndromes in Neuro-ophthalmology. 61
31584543 2019
3
Clinical neurophysiology of neuromuscular junction disease. 61
31307607 2019
4
Single fiber electromyography. 61
31277856 2019
5
Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. 61
29879051 2018
6
Myasthenia Gravis and Crisis: Evaluation and Management in the Emergency Department. 61
28916122 2017
7
An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission. 61
28940165 2017
8
Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis. 61
28012741 2017
9
Acute lower motor neuron tetraparesis. 61
25441630 2014
10
Technical tips: methods of warming and maintaining limb temperature during nerve conduction studies. 61
24046972 2013
11
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy. 61
24021317 2013
12
Myasthenia gravis in the elderly: a rare cause of undernutrition. 61
23238315 2012
13
[The pathophysiology and treatment of autoimmune neuromuscular junction diseases]. 61
22277398 2011
14
Motor neuron, nerve, and neuromuscular junction disease. 61
21825986 2011
15
Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus. 61
21427136 2011
16
Thymoma in myasthenia gravis: from diagnosis to treatment. 61
21860784 2011
17
Neuromuscular junction disease or neuropathic disorder? 61
20581646 2010
18
Research advancement in immunopathogenesis of myasthenia gravis. 61
20101276 2010
19
Lambert-eaton myasthenic syndrome. 61
19210909 2009
20
[Misleading presentation of rhombencephalitis due to Listeria monocytogenes]. 61
16317592 2005
21
Advances in the diagnosis of neuromuscular junction disorders. 61
16034233 2005
22
The value of basic science in clinical diagnosis: creating coherence among signs and symptoms. 61
15612907 2005
23
The role of readthrough acetylcholinesterase in the pathophysiology of myasthenia gravis. 61
12554700 2003
24
Myasthenia gravis and lymphoblastic lymphoma involving the thymus: a rare association. 61
11699420 2001
25
[Electrodiagnosis of neuromuscular junction diseases]. 61
10693265 2000
26
Organ-specific autoantibodies with muscle weakness. 61
10551672 1999
27
Binocular vertical diplopia. 61
9443680 1998
28
Neurological manifestations of the post-polio syndrome. 61
3315237 1987
29
Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. 61
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:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.36 RAPSN MUSK LRP4 ICOSLG DOK7 DDX41
2 plasma membrane GO:0005886 10.28 RAPSN MUSK LRP4 ICOSLG DOK7 COLQ
3 integral component of plasma membrane GO:0005887 10.03 MUSK CHRNE CHRND CHRNB1 CHRNA1 CD8A
4 postsynaptic membrane GO:0045211 9.85 RAPSN MUSK CHRNE CHRND CHRNB1 CHRNA1
5 cell junction GO:0030054 9.85 RAPSN MUSK DOK7 COLQ CHRNE CHRND
6 basement membrane GO:0005604 9.65 COLQ AGRN ACHE
7 synapse GO:0045202 9.65 RAPSN MUSK DOK7 COLQ CHRNE CHRND
8 integral component of postsynaptic specialization membrane GO:0099060 9.62 CHRNE CHRND CHRNB1 CHRNA1
9 acetylcholine-gated channel complex GO:0005892 9.56 CHRNE CHRND CHRNB1 CHRNA1
10 neuromuscular junction GO:0031594 9.28 RAPSN MUSK LRP4 COLQ CHRNE CHRND

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.88 RAPSN CHRNE CHRND CHRNB1 CHRNA1
2 muscle contraction GO:0006936 9.83 TTN CHRNE CHRND CHRNB1
3 regulation of membrane potential GO:0042391 9.81 CHRNE CHRND CHRNB1 CHRNA1
4 cation transport GO:0006812 9.75 CHRND CHRNB1 CHRNA1
5 T cell activation GO:0042110 9.73 ICOSLG CD8A CD4
6 excitatory postsynaptic potential GO:0060079 9.73 CHRNE CHRND CHRNB1 CHRNA1
7 neuromuscular junction development GO:0007528 9.72 MUSK CHRNA1 AGRN
8 regulation of postsynaptic membrane potential GO:0060078 9.71 CHRNE CHRND CHRNB1 CHRNA1
9 skeletal muscle contraction GO:0003009 9.67 CHRND CHRNB1 CHRNA1
10 nervous system process GO:0050877 9.67 CHRNE CHRND CHRNB1 CHRNA1
11 response to nicotine GO:0035094 9.62 CHRNE CHRND CHRNB1 CHRNA1
12 neurotransmitter catabolic process GO:0042135 9.58 COLQ ACHE
13 musculoskeletal movement GO:0050881 9.57 CHRND CHRNA1
14 skeletal muscle tissue growth GO:0048630 9.54 CHRND CHRNA1
15 acetylcholine catabolic process in synaptic cleft GO:0001507 9.46 COLQ ACHE
16 neuromuscular synaptic transmission GO:0007274 9.46 CHRNE CHRND CHRNB1 CHRNA1
17 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.43 MUSK LRP4 COLQ
18 regulation of synaptic growth at neuromuscular junction GO:0008582 9.13 MUSK COLQ AGRN
19 synaptic transmission, cholinergic GO:0007271 9.02 RAPSN CHRNE CHRND CHRNB1 CHRNA1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.76 CHRND CHRNB1 CHRNA1 CD4
2 ion channel activity GO:0005216 9.73 CHRNE CHRND CHRNB1 CHRNA1
3 extracellular ligand-gated ion channel activity GO:0005230 9.62 CHRNE CHRND CHRNB1 CHRNA1
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.56 CHRNE CHRND CHRNB1 CHRNA1
5 acetylcholine-gated cation-selective channel activity GO:0022848 9.46 CHRNE CHRND CHRNB1 CHRNA1
6 cholinesterase activity GO:0004104 9.4 BCHE ACHE
7 acetylcholinesterase activity GO:0003990 9.37 BCHE ACHE
8 acetylcholine receptor activity GO:0015464 9.26 CHRNE CHRND CHRNB1 CHRNA1
9 acetylcholine binding GO:0042166 9.02 CHRNE CHRND CHRNB1 CHRNA1 ACHE

Sources for Neuromuscular Junction Disease

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
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