MCID: NRM006
MIFTS: 36

Neuromuscular Junction Disease

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Neuromuscular Junction Disease

MalaCards integrated aliases for Neuromuscular Junction Disease:

Name: Neuromuscular Junction Disease 11 58 14 75
Neuromuscular Junction Diseases 43 71

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:439
MeSH 43 D020511
SNOMED-CT 68 128213006
MESH via Orphanet 44 D020511
ICD10 via Orphanet 32 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: 11 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 lambert-eaton myasthenic syndrome and myasthenia gravis. An important gene associated with Neuromuscular Junction Disease is DOK7 (Docking Protein 7), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Transmission across Chemical Synapses. The drugs Sevoflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include thymus, and related phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system

Wikipedia: 75 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 69)
# Related Disease Score Top Affiliating Genes
1 lambert-eaton myasthenic syndrome 32.0 SYT2 SOX1 MUSK
2 myasthenia gravis 31.5 RAPSN MUSK LRP4 DOK7 CHRNG CHRNE
3 congenital myasthenic syndrome 30.1 SYT2 SCN4A RAPSN PREPL MUSK LRP4
4 amyotrophic lateral sclerosis 1 30.1 SCN4A MUSK DOK7 CHRND AGRN ACHE
5 foodborne botulism 11.4
6 immune-mediated acquired neuromuscular junction disease 11.3
7 acquired neuromuscular junction disease 11.3
8 genetic neuromuscular junction disease 11.3
9 intestinal botulism 11.1
10 wound botulism 11.1
11 infant botulism 11.1
12 adult intestinal botulism 11.1
13 inhalational botulism 11.1
14 iatrogenic botulism 11.1
15 toxin-mediated infectious botulism 11.1
16 brain angioma 10.3 CHRNE CHRND CHRNA1
17 myasthenic syndrome, congenital, 1b, fast-channel 10.3 CHRNE CHRND CHRNA1
18 congenital muscular dystrophy-dystroglycanopathy a14 10.3 GMPPB ALG14
19 cystic lymphangioma 10.2 RAPSN CHRNG CHRND
20 presynaptic congenital myasthenic syndromes 10.2 SYT2 AGRN
21 internuclear ophthalmoplegia 10.2 MUSK LRP4 COLQ
22 autoimmune disease of peripheral nervous system 10.2 SOX1 MUSK AGRN
23 polyhydramnios 10.2 RAPSN MUSK DOK7
24 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.2 RAPSN MUSK GFPT1 CHRNE
25 myasthenic syndrome, congenital, 4b, fast-channel 10.2 CHRNG CHRNE
26 myasthenic syndrome, congenital, 21, presynaptic 10.2 GFPT1 DPAGT1 DOK7 COLQ
27 thymus gland disease 10.2 MUSK LRP4 AGRN
28 thymus cancer 10.2 MUSK LRP4 AGRN
29 developmental and epileptic encephalopathy 47 10.2 PREPL ACHE
30 oligohydramnios 10.2 CHRNG CHRND CHRNA1
31 myasthenic syndrome, congenital, 15 10.2 DPAGT1 ALG14
32 myasthenic syndrome, congenital, 1a, slow-channel 10.2 CHRNB1 CHRNA1
33 myasthenic syndrome, congenital, 10 10.2 MUSK DOK7
34 ocular motility disease 10.2 RAPSN MUSK DOK7 COLQ CHRNE
35 multiple pterygium syndrome, lethal type 10.2 RAPSN CHRNG CHRND CHRNA1
36 congenital myasthenic syndromes with glycosylation defect 10.2 GMPPB GFPT1 DPAGT1 ALG14
37 myasthenic syndrome, congenital, 2a, slow-channel 10.2 COLQ CHRNE CHRND CHRNB1 CHRNA1
38 myasthenic syndrome, congenital, 6, presynaptic 10.1 RAPSN COLQ CHRNE CHRND ACHE
39 tobacco addiction 10.1 CHRNG CHRND CHRNB1 CHRNA1
40 sclerosteosis 2 10.1 RAPSN MUSK LRP4 DOK7 AGRN
41 myasthenic syndrome, congenital, 12 10.1 RAPSN GFPT1 DPAGT1 DOK7 ALG14
42 walker-warburg syndrome 10.1 GMPPB DPAGT1 ALG14 AGRN
43 paramyotonia congenita of von eulenburg 10.1 SCN4A CHRNE CHRND CHRNB1 CHRNA1
44 myasthenic syndrome, congenital, 14 10.1 DOK7 COLQ CHRNE CHRND CHRNB1 ALG14
45 hyperkalemic periodic paralysis 10.1 SCN4A RAPSN CHRNE CHRND CHRNB1 CHRNA1
46 lateral sclerosis 10.1
47 neonatal myasthenia gravis 10.0 RAPSN MUSK LRP4 COLQ CHRNG AGRN
48 cenani-lenz syndactyly syndrome 10.0 SCN4A RAPSN MUSK LRP4 DOK7 CHRNE
49 muscular dystrophy-dystroglycanopathy , type b, 1 10.0 GMPPB AGRN
50 congenital ptosis 10.0 RAPSN LRP4 COLQ CHRNG CHRND ACHE

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:

25 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.83 CHRNA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.83 PREPL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.83 CHRNA1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.83 MUSK
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.83 CHRNA1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-175 9.83 MUSK
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.83 PREPL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.83 CHRNG PREPL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.83 CHRNG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.83 MUSK
11 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.83 PREPL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.83 CHRNG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.83 PREPL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.83 MUSK
15 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.83 PREPL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.83 CHRNA1 CHRNG PREPL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.83 CHRNG
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.83 CHRNA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.83 PREPL
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.83 CHRNA1 MUSK
21 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.83 PREPL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.83 PREPL
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.83 CHRNA1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.83 CHRNA1 MUSK
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.83 CHRNA1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.83 PREPL
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.83 MUSK

MGI Mouse Phenotypes related to Neuromuscular Junction Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.24 ACHE AGRN CHRNA1 CHRNB1 CHRNE CHRNG
2 muscle MP:0005369 10.1 ACHE AGRN CHRNE CHRNG DOK7 GFPT1
3 growth/size/body region MP:0005378 10.1 ACHE AGRN CHRND CHRNE CHRNG COLQ
4 behavior/neurological MP:0005386 10 ACHE AGRN CHRNA1 CHRNE CHRNG COLQ
5 respiratory system MP:0005388 9.61 ACHE AGRN CHRNE CHRNG DOK7 LRP4
6 mortality/aging MP:0010768 9.58 ACHE AGRN ALG14 CHRNA1 CHRND CHRNE

Drugs & Therapeutics for Neuromuscular Junction Disease

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
2
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
3 Platelet Aggregation Inhibitors Phase 3
4 Anesthetics, Intravenous Phase 3
5 Anesthetics, Inhalation Phase 3
6 Anesthetics, General Phase 3
7 Anesthetics Phase 3
8 Hypnotics and Sedatives Phase 3
9
Rocuronium Approved 119302-91-9, 143558-00-3 441290

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Influence of Sevoflurane and Propofol on Maximum Muscular Strength, Speed of Contraction and Relaxation, in Humans: A Pilot Study Not yet recruiting NCT05615025 Phase 3 Sevoflurane;Propofol
2 Effect of Type II Diabetes Mellitus With Neuropathy on the Clinical Use of Rocuronium: A Pharmacodynamic Modelling Study Unknown status NCT03737942
3 Predictors and Prognostic Factors of Myasthenia Gravis Outcome Recruiting NCT05214612

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

Organs/tissues related to Neuromuscular Junction Disease:

MalaCards : Thymus

Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

(show all 26)
# Title Authors PMID Year
1
Seronegative Ocular Myasthenia Gravis in an Older Woman With Transient Dizziness and Diplopia. 62
36106280 2022
2
Age at sampling and sex distribution of AChRAb vs. MuSKAb myasthenia gravis in a large Greek population. 62
34343914 2021
3
Myasthenia Gravis-An Analysis of Multimodal Evoked Potentials. 62
34439676 2021
4
Dual attack: targeting the rare co-occurrence of myasthenia gravis and Graves' disease with radioactive iodine therapy. 62
34196278 2021
5
Acquired myasthenia gravis with concurrent polymyositis and myocarditis secondary to a thymoma in a dog. 62
34722208 2021
6
An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission. 62
28940165 2020
7
Paraneoplastic Syndromes in Neuro-ophthalmology. 62
31584543 2019
8
Clinical neurophysiology of neuromuscular junction disease. 62
31307607 2019
9
Single fiber electromyography. 62
31277856 2019
10
Clinical Image: Leriche Syndrome. 62
32995207 2018
11
Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis. 62
28012741 2017
12
Acute lower motor neuron tetraparesis. 62
25441630 2014
13
Technical tips: methods of warming and maintaining limb temperature during nerve conduction studies. 62
24046972 2013
14
Myasthenia gravis in the elderly: a rare cause of undernutrition. 62
23238315 2012
15
Motor neuron, nerve, and neuromuscular junction disease. 62
21825986 2011
16
Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus. 62
21427136 2011
17
Thymoma in myasthenia gravis: from diagnosis to treatment. 62
21860784 2011
18
Neuromuscular junction disease or neuropathic disorder? 62
20581646 2010
19
Research advancement in immunopathogenesis of myasthenia gravis. 62
20101276 2010
20
Lambert-eaton myasthenic syndrome. 62
19210909 2009
21
[Misleading presentation of rhombencephalitis due to Listeria monocytogenes]. 62
16317592 2005
22
Advances in the diagnosis of neuromuscular junction disorders. 62
16034233 2005
23
The value of basic science in clinical diagnosis: creating coherence among signs and symptoms. 62
15612907 2005
24
Myasthenia gravis and lymphoblastic lymphoma involving the thymus: a rare association. 62
11699420 2001
25
Binocular vertical diplopia. 62
9443680 1998
26
Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. 62
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

Pathways related to Neuromuscular Junction Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 MUSK CHRNG CHRNE CHRND CHRNB1 CHRNA1
2
Show member pathways
12.75 SYT2 CHRNG CHRNE CHRND CHRNA1 ACHE
3
Show member pathways
11.88 GMPPB GFPT1 DPAGT1 ALG14
4
Show member pathways
11.8 MUSK LRP4 AGRN
5
Show member pathways
11.3 CHRNG CHRNE CHRND CHRNA1
6 11.01 RAPSN MUSK CHRNA1 AGRN
7 10 CHRNE CHRND CHRNB1 CHRNA1

GO Terms for Neuromuscular Junction Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.58 SYT2 SCN4A MUSK LRP4 DPAGT1 CHRNG
2 membrane GO:0016021 10.58 SYT2 SCN4A MUSK LRP4 DPAGT1 CHRNG
3 plasma membrane GO:0005886 10.5 SCN4A MUSK CHRNG CHRNE CHRND CHRNB1
4 plasma membrane GO:0005887 10.5 SCN4A MUSK CHRNG CHRNE CHRND CHRNB1
5 neuron projection GO:0043005 10.19 CHRNG CHRNE CHRND CHRNB1 CHRNA1
6 synapse GO:0045202 9.96 ACHE AGRN CHRNA1 CHRNB1 CHRND CHRNE
7 postsynaptic membrane GO:0045211 9.93 CHRNA1 CHRNB1 CHRND CHRNE CHRNG MUSK
8 acetylcholine-gated channel complex GO:0005892 9.86 CHRNE CHRND CHRNB1 CHRNA1
9 anchoring junction GO:0070161 9.85 CHRNA1 CHRNB1 CHRND CHRNG MUSK
10 cellular anatomical entity GO:0110165 9.8 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
11 postsynaptic specialization membrane GO:0099634 9.72 RAPSN CHRND CHRNB1 CHRNA1
12 neuromuscular junction GO:0031594 9.58 RAPSN MUSK LRP4 COLQ CHRNE CHRND
13 obsolete integral component of postsynaptic specialization membrane GO:0099060 9.54 CHRND CHRNB1 CHRNA1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.23 RAPSN CHRNG CHRNE CHRND CHRNB1 CHRNA1
2 monoatomic ion transmembrane transport GO:0034220 10.19 CHRNG CHRNE CHRND CHRNB1 CHRNA1
3 regulation of membrane potential GO:0042391 10.13 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
4 monoatomic cation transport GO:0006812 10.05 CHRND CHRNB1 CHRNA1
5 excitatory postsynaptic potential GO:0060079 10.02 CHRNG CHRNE CHRND CHRNB1 CHRNA1
6 neuromuscular junction development GO:0007528 10.01 MUSK DOK7 CHRNA1 AGRN
7 monoatomic ion transport GO:0006811 10 SCN4A CHRNG CHRNE CHRND CHRNB1 CHRNA1
8 skeletal muscle contraction GO:0003009 9.99 CHRNA1 CHRNB1 CHRND
9 muscle contraction GO:0006936 9.96 CHRNB1 CHRND CHRNE CHRNG SCN4A
10 acetylcholine receptor signaling pathway GO:0095500 9.89 CHRND ACHE
11 musculoskeletal movement GO:0050881 9.87 CHRND CHRNA1
12 UDP-N-acetylglucosamine metabolic process GO:0006047 9.86 GFPT1 DPAGT1
13 regulation of synaptic assembly at neuromuscular junction GO:0008582 9.85 MUSK COLQ
14 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.85 MUSK LRP4 COLQ
15 nervous system process GO:0050877 9.85 CHRNG CHRNE CHRND CHRNB1 CHRNA1
16 skeletal muscle tissue growth GO:0048630 9.84 CHRND CHRNA1
17 acetylcholine catabolic process in synaptic cleft GO:0001507 9.78 COLQ ACHE
18 neurotransmitter catabolic process GO:0042135 9.58 COLQ ACHE
19 regulation of postsynaptic membrane potential GO:0060078 9.35 CHRNG CHRNE CHRND CHRNB1 CHRNA1
20 synaptic transmission, cholinergic GO:0007271 9.32 RAPSN CHRNG CHRNE CHRNB1 CHRNA1

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

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 10.13 CHRNG CHRNE CHRND CHRNB1 CHRNA1
2 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 10.1 CHRNG CHRNE CHRND CHRNB1 CHRNA1
3 excitatory extracellular ligand-gated monoatomic ion channel activity GO:0005231 10.02 CHRNA1 CHRNB1 CHRND CHRNE CHRNG
4 acetylcholine receptor activity GO:0015464 9.97 CHRNG CHRNE CHRNB1 CHRNA1
5 transmembrane signaling receptor activity GO:0004888 9.93 CHRNG CHRNE CHRND CHRNB1 CHRNA1
6 monoatomic ion channel activity GO:0005216 9.8 SCN4A CHRNG CHRNE CHRND CHRNB1 CHRNA1
7 acetylcholine binding GO:0042166 9.76 CHRND CHRNB1 CHRNA1 ACHE
8 extracellular ligand-gated monoatomic ion channel activity GO:0005230 9.35 CHRNG CHRNE CHRND CHRNB1 CHRNA1
9 acetylcholine-gated monoatomic cation-selective channel activity GO:0022848 9.32 CHRNG CHRNE CHRND CHRNB1 CHRNA1

Sources for Neuromuscular Junction Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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