MCID: NRM006
MIFTS: 35

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 59 15
Neuromuscular Junction Diseases 44 72

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:439
MeSH 44 D020511
MESH via Orphanet 45 D020511
ICD10 via Orphanet 34 G70.0 G70.1 G70.2 more
UMLS via Orphanet 73 C0751950
Orphanet 59 ORPHA98491
UMLS 72 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 myasthenia gravis and congenital 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 Postsynaptic nicotinic acetylcholine receptors. The drugs Rocuronium and Neuromuscular Nondepolarizing Agents have been mentioned in the context of this disorder. Affiliated tissues include thymus and lung, and related phenotypes are mortality/aging and muscle

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 all 34)
# Related Disease Score Top Affiliating Genes
1 myasthenia gravis 29.4 TTN RAPSN MUSK CHRNE CHRNA1 AGRN
2 congenital myasthenic syndrome 27.8 RAPSN MUSK LRP4 KCNH1 GMPPB GFPT1
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 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 10.4 MUSK DOK7 CHRNE
8 myasthenic syndrome, congenital, 1b, fast-channel 10.4 CHRNE CHRNA1
9 congenital myasthenic syndrome associated with acetylcholine receptor deficiency 10.3 GFPT1 CHRNE
10 multiple pterygium syndrome, lethal type 10.3 RAPSN CHRND CHRNA1
11 multiple pterygium syndrome, escobar variant 10.2 CHRND CHRNB1 CHRNA1
12 cystic lymphangioma 10.2 DOK7 CHRND
13 thymus gland disease 10.1 TTN OMG MUSK LRP4
14 sclerosteosis 2 10.1 RAPSN MUSK LRP4 DOK7 AGRN
15 slow-channel congenital myasthenic syndrome 10.0 CHRNE CHRND CHRNB1 CHRNA1
16 myasthenic syndrome, congenital, 5 10.0 KCNH1 COLQ ACHE
17 amyotrophic lateral sclerosis 1 10.0
18 lateral sclerosis 10.0
19 congenital myasthenic syndromes with glycosylation defect 9.9 GMPPB GFPT1
20 autoimmune disease of musculoskeletal system 9.9 TNFRSF25 MUSK DDX41
21 autoimmune disease 9.8
22 spinal muscular atrophy 9.8
23 motor neuron disease 9.8
24 muscular atrophy 9.8
25 cerebellar degeneration 9.8
26 myasthenia gravis congenital 9.8
27 paraneoplastic cerebellar degeneration 9.8
28 cenani-lenz syndactyly syndrome 9.8 RAPSN MUSK LRP4 DOK7 AGRN ACHE
29 butyrylcholinesterase deficiency 9.7 BCHE ACHE
30 muscular disease 9.6 TTN GMPPB DOK7 AGRN
31 heart block, congenital 9.6 TNFRSF25 DDX41
32 ptosis 9.6 RAPSN MUSK DOK7 COLQ CHRNE CHRND
33 peripheral nervous system disease 9.4 TTN RAPSN MUSK DOK7 COLQ CHRNE
34 postsynaptic congenital myasthenic syndromes 9.2 RAPSN MUSK LRP4 DOK7 CHRNE CHRND

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.1 ACHE AGRN BCHE CD4 CHRNA1 CHRNE
2 muscle MP:0005369 9.7 ACHE AGRN CHRNE DOK7 MUSK RAPSN
3 nervous system MP:0003631 9.7 ACHE AGRN CD4 CHRNA1 CHRNB1 CHRNE
4 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):


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

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:

41
Thymus, Lung

Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

(show all 27)
# Title Authors PMID Year
1
Single fiber electromyography. 38
31277856 2019
2
Clinical neurophysiology of neuromuscular junction disease. 38
31307607 2019
3
Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. 38
29879051 2018
4
Myasthenia Gravis and Crisis: Evaluation and Management in the Emergency Department. 38
28916122 2017
5
An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission. 38
28940165 2017
6
Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis. 38
28012741 2017
7
Acute lower motor neuron tetraparesis. 38
25441630 2014
8
Technical tips: methods of warming and maintaining limb temperature during nerve conduction studies. 38
24046972 2013
9
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy. 38
24021317 2013
10
Myasthenia gravis in the elderly: a rare cause of undernutrition. 38
23238315 2012
11
[The pathophysiology and treatment of autoimmune neuromuscular junction diseases]. 38
22277398 2011
12
Motor neuron, nerve, and neuromuscular junction disease. 38
21825986 2011
13
Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus. 38
21427136 2011
14
Thymoma in myasthenia gravis: from diagnosis to treatment. 38
21860784 2011
15
Neuromuscular junction disease or neuropathic disorder? 38
20581646 2010
16
Research advancement in immunopathogenesis of myasthenia gravis. 38
20101276 2010
17
Lambert-eaton myasthenic syndrome. 38
19210909 2009
18
[Misleading presentation of rhombencephalitis due to Listeria monocytogenes]. 38
16317592 2005
19
Advances in the diagnosis of neuromuscular junction disorders. 38
16034233 2005
20
The value of basic science in clinical diagnosis: creating coherence among signs and symptoms. 38
15612907 2005
21
The role of readthrough acetylcholinesterase in the pathophysiology of myasthenia gravis. 38
12554700 2003
22
Myasthenia gravis and lymphoblastic lymphoma involving the thymus: a rare association. 38
11699420 2001
23
[Electrodiagnosis of neuromuscular junction diseases]. 38
10693265 2000
24
Organ-specific autoantibodies with muscle weakness. 38
10551672 1999
25
Binocular vertical diplopia. 38
9443680 1998
26
Neurological manifestations of the post-polio syndrome. 38
3315237 1987
27
Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. 38
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 RAPSN MUSK KCNH1 DOK7 COLQ CHRNE
2 cell surface GO:0009986 9.81 LRP4 CHRNA1 CD4 ACHE
3 postsynaptic membrane GO:0045211 9.8 RAPSN MUSK KCNH1 CHRNE CHRND CHRNB1
4 synapse GO:0045202 9.7 RAPSN MUSK KCNH1 DOK7 COLQ CHRNE
5 basement membrane GO:0005604 9.65 COLQ AGRN ACHE
6 acetylcholine-gated channel complex GO:0005892 9.62 CHRNE CHRND CHRNB1 CHRNA1
7 integral component of postsynaptic specialization membrane GO:0099060 9.58 CHRND CHRNB1 CHRNA1
8 synaptic cleft GO:0043083 9.49 COLQ ACHE
9 neuromuscular junction GO:0031594 9.28 RAPSN MUSK LRP4 COLQ CHRNE CHRND
10 membrane GO:0016020 10.36 TNFRSF25 RAPSN OMG MUSK LRP4 KCNH1
11 plasma membrane GO:0005886 10.24 TNFRSF25 RAPSN OMG MUSK LRP4 KCNH1
12 integral component of plasma membrane GO:0005887 10.03 TNFRSF25 MUSK KCNH1 CHRNE CHRND CHRNB1

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 transport GO:0006811 9.99 KCNH1 CHRNE CHRND CHRNB1 CHRNA1
2 ion transmembrane transport GO:0034220 9.93 KCNH1 CHRNE CHRND CHRNB1 CHRNA1
3 chemical synaptic transmission GO:0007268 9.91 RAPSN CHRNE CHRND CHRNB1 CHRNA1
4 muscle contraction GO:0006936 9.83 TTN CHRNE CHRND CHRNB1
5 excitatory postsynaptic potential GO:0060079 9.76 CHRNE CHRND CHRNB1 CHRNA1
6 cation transport GO:0006812 9.75 CHRND CHRNB1 CHRNA1
7 nervous system process GO:0050877 9.73 CHRNE CHRND CHRNB1 CHRNA1
8 regulation of membrane potential GO:0042391 9.72 KCNH1 CHRNE CHRND CHRNB1 CHRNA1
9 regulation of postsynaptic membrane potential GO:0060078 9.71 CHRNE CHRND CHRNB1 CHRNA1
10 skeletal muscle contraction GO:0003009 9.65 CHRND CHRNB1 CHRNA1
11 negative regulation of axonogenesis GO:0050771 9.58 OMG LRP4
12 neurotransmitter catabolic process GO:0042135 9.57 COLQ ACHE
13 musculoskeletal movement GO:0050881 9.56 CHRND CHRNA1
14 response to nicotine GO:0035094 9.56 CHRNE CHRND CHRNB1 CHRNA1
15 skeletal muscle tissue growth GO:0048630 9.55 CHRND CHRNA1
16 skeletal muscle acetylcholine-gated channel clustering GO:0071340 9.54 MUSK LRP4 COLQ
17 acetylcholine catabolic process in synaptic cleft GO:0001507 9.49 COLQ ACHE
18 neuromuscular synaptic transmission GO:0007274 9.46 CHRNE CHRND CHRNB1 CHRNA1
19 regulation of synaptic growth at neuromuscular junction GO:0008582 9.13 MUSK COLQ AGRN
20 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.73 CHRND CHRNB1 CHRNA1 CD4
2 ion channel activity GO:0005216 9.71 CHRNE CHRND CHRNB1 CHRNA1
3 extracellular matrix structural constituent GO:0005201 9.67 COLQ CD4 AGRN
4 extracellular ligand-gated ion channel activity GO:0005230 9.67 CHRNE CHRND CHRNB1 CHRNA1
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.56 CHRNE CHRND CHRNB1 CHRNA1
6 laminin binding GO:0043236 9.51 AGRN ACHE
7 cholinesterase activity GO:0004104 9.48 BCHE ACHE
8 acetylcholinesterase activity GO:0003990 9.46 BCHE ACHE
9 acetylcholine-gated cation-selective channel activity GO:0022848 9.46 CHRNE CHRND CHRNB1 CHRNA1
10 ligand-gated ion channel activity GO:0015276 9.32 CHRND CHRNB1
11 acetylcholine receptor activity GO:0015464 9.26 CHRNE CHRND CHRNB1 CHRNA1
12 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 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
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