Neuromuscular Junction Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Myasthenia gravis and other myoneural disorders

Congenital and developmental myasthenia

Myasthenia gravis

Myoneural disorder, unspecified

Other specified myoneural disorders

Toxic myoneural disorders

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

Sources

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...

Sources

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:

Sources

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

Sources

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

Synonyms:

(2beta,3alpha,5alpha,16beta,17beta)-17-acetoxy-16-(1-allylpyrrolidinium-1-yl)-3-hydroxy-2-(morpholin-4-yl)androstane

[(2S,3S,5S,8R,9S,10S,13S,14S,16S,17R)-3-hydroxy-10,13-dimethyl-2-morpholin-4-yl-16-(1-prop-2-enylpyrrolidin-1-ium-1-yl)-2,3,4,5,6,7,8,9,11,12,14,15,16,17-tetradecahydro-1H-cyclopenta[a]phenanthren-17-yl] acetate

1-(17-(Acetoyl)-3-hydroxy-2-(4-morpholinyl)androstan-16-yl)-1-(2-propenyl)pyrrolidinium

143558-00-3

AC1L9AWM

BIDD:GT0360

C07556

CHEBI:8884

CID441290

DB00728

Esmeron

Esmerone

HMS2090E03

NCGC00167433-01

Pyrrolidinium, 1-((2beta,3alpha,5alpha,16beta,17beta)-17-(acetyloxy)-3-hydroxy-2-(4-morpholinyl)androstan-16-yl)-1-(2-propenyl)-, bromide

Rocuronio

Rocuronium

Rocuronium bromide

Zemuron

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

Sources

Genetic Tests for Neuromuscular Junction Disease

Sources

Anatomical Context for Neuromuscular Junction Disease

MalaCards organs/tissues related to Neuromuscular Junction Disease:

⁴¹

Thymus, Lung

Sources

Publications for Neuromuscular Junction Disease

Articles related to Neuromuscular Junction Disease:

(show all 27)

#	Title	Authors	PMID	Year
1	Single fiber electromyography. ³⁸	Juel VC	31277856	2019
2	Clinical neurophysiology of neuromuscular junction disease. ³⁸	Juel VC	31307607	2019
3	Coexistence of myasthenia gravis and Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient: A case report. ³⁸	Jia R...Zhao Z	29879051	2018
4	Myasthenia Gravis and Crisis: Evaluation and Management in the Emergency Department. ³⁸	Roper J...Koyfman A	28916122	2017
5	An investigation on the effects of carbamazepine and sodium valproate on neuromuscular transmission. ³⁸	Ay H...Ethemoglu O	28940165	2017
6	Analysis of TNF-related apoptosis-inducing ligand and receptors and implications in thymus biology and myasthenia gravis. ³⁸	Kanatli I...Sanlioglu AD	28012741	2017
7	Acute lower motor neuron tetraparesis. ³⁸	Anor S	25441630	2014
8	Technical tips: methods of warming and maintaining limb temperature during nerve conduction studies. ³⁸	Morris J	24046972	2013
9	Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy. ³⁸	Eymard B...Stojkovic T	24021317	2013
10	Myasthenia gravis in the elderly: a rare cause of undernutrition. ³⁸	Petit A...Hommet C	23238315	2012
11	[The pathophysiology and treatment of autoimmune neuromuscular junction diseases]. ³⁸	Motomura M	22277398	2011
12	Motor neuron, nerve, and neuromuscular junction disease. ³⁸	Finsterer J...Auer-Grumbach M	21825986	2011
13	Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus. ³⁸	Pasqualoni E...Papo T	21427136	2011
14	Thymoma in myasthenia gravis: from diagnosis to treatment. ³⁸	Romi F	21860784	2011
15	Neuromuscular junction disease or neuropathic disorder? ³⁸	Messerli B...Robinson L	20581646	2010
16	Research advancement in immunopathogenesis of myasthenia gravis. ³⁸	Huang S...Tan LM	20101276	2010
17	Lambert-eaton myasthenic syndrome. ³⁸	Weimer MB...Wong J	19210909	2009
18	[Misleading presentation of rhombencephalitis due to Listeria monocytogenes]. ³⁸	Gutierrez-Gutierrez G...Marti Masso JF	16317592	2005
19	Advances in the diagnosis of neuromuscular junction disorders. ³⁸	Meriggioli MN...Sanders DB	16034233	2005
20	The value of basic science in clinical diagnosis: creating coherence among signs and symptoms. ³⁸	Woods NN...Norman GR	15612907	2005
21	The role of readthrough acetylcholinesterase in the pathophysiology of myasthenia gravis. ³⁸	Brenner T...Soreq H	12554700	2003
22	Myasthenia gravis and lymphoblastic lymphoma involving the thymus: a rare association. ³⁸	Uner AH...Guler N	11699420	2001
23	[Electrodiagnosis of neuromuscular junction diseases]. ³⁸	Chauplannaz G...Vial C	10693265	2000
24	Organ-specific autoantibodies with muscle weakness. ³⁸	Al-Lozi M...Pestronk A	10551672	1999
25	Binocular vertical diplopia. ³⁸	Brazis PW...Lee AG	9443680	1998
26	Neurological manifestations of the post-polio syndrome. ³⁸	Jubelt B...Cashman NR	3315237	1987
27	Electrophysiology of neuromuscular junction disease: an appreciation of the contributions of Edward H. Lambert. ³⁸	Simpson JA	6302497	1982

Sources

Genes for Neuromuscular Junction Disease

Genes related to Neuromuscular Junction Disease (0 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MUSK	Muscle Associated Receptor Tyrosine Kinase	Protein Coding	19.89	DISEASES inferred ¹⁵
2	RAPSN	Receptor Associated Protein Of The Synapse	Protein Coding	18.54	DISEASES inferred ¹⁵
3	DOK7	Docking Protein 7	Protein Coding	18.47	DISEASES inferred ¹⁵
4	COLQ	Collagen Like Tail Subunit Of Asymmetric Acetylcholinesterase	Protein Coding	18.45	DISEASES inferred ¹⁵
5	AGRN	Agrin	Protein Coding	18.15	DISEASES inferred ¹⁵
6	CHRNE	Cholinergic Receptor Nicotinic Epsilon Subunit	Protein Coding	18.13	DISEASES inferred ¹⁵
7	CHRNA1	Cholinergic Receptor Nicotinic Alpha 1 Subunit	Protein Coding	17.72	DISEASES inferred ¹⁵
8	LRP4	LDL Receptor Related Protein 4	Protein Coding	17.62	DISEASES inferred ¹⁵
9	TTN	Titin	Protein Coding	17.6	DISEASES inferred ¹⁵
10	CHRNB1	Cholinergic Receptor Nicotinic Beta 1 Subunit	Protein Coding	17.3	DISEASES inferred ¹⁵
11	OMG	Oligodendrocyte Myelin Glycoprotein	Protein Coding	17.19	DISEASES inferred ¹⁵
12	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	Protein Coding	17.17	DISEASES inferred ¹⁵
13	ACHE	Acetylcholinesterase (Cartwright Blood Group)	Protein Coding	17.07	DISEASES inferred ¹⁵
14	CD4	CD4 Molecule	Protein Coding	16.9	DISEASES inferred ¹⁵
15	DDX41	DEAD-Box Helicase 41	Protein Coding	16.81	DISEASES inferred ¹⁵
16	KCNH1	Potassium Voltage-Gated Channel Subfamily H Member 1	Protein Coding	16.81	DISEASES inferred ¹⁵
17	GFPT1	Glutamine--Fructose-6-Phosphate Transaminase 1	Protein Coding	16.75	DISEASES inferred ¹⁵
18	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	16.46	DISEASES inferred ¹⁵
19	GMPPB	GDP-Mannose Pyrophosphorylase B	Protein Coding	16.4	DISEASES inferred ¹⁵
20	BCHE	Butyrylcholinesterase	Protein Coding	16.28	DISEASES inferred ¹⁵
21	IQGAP1	IQ Motif Containing GTPase Activating Protein 1	Protein Coding	6.25	DISEASES inferred ¹⁵

Sources

Variations for Neuromuscular Junction Disease

Sources

Expression for Neuromuscular Junction Disease

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

Sources

Pathways for Neuromuscular Junction Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.59	KCNH1 CHRNE CHRND CHRNA1 BCHE ACHE
2	Postsynaptic nicotinic acetylcholine receptors ⁶⁶ Show member pathways Acetylcholine Binding And Downstream Events ⁶⁶ Activation of Nicotinic Acetylcholine Receptors ⁶⁶ Highly calcium permeable nicotinic acetylcholine receptors ⁶⁶ Highly calcium permeable postsynaptic nicotinic acetylcholine receptors ⁶⁶ Highly sodium permeable acetylcholine nicotinic receptors ⁶⁶ Presynaptic nicotinic acetylcholine receptors ⁶⁶	11.41	CHRNE CHRND CHRNA1
3	ECM proteoglycans ⁶⁶	11.09	MUSK LRP4 AGRN
4	Agrin Interactions at Neuromuscular Junction ⁶⁴	11.01	RAPSN MUSK CHRNA1 AGRN
5	Neurotransmitter Clearance In The Synaptic Cleft ⁶⁶ Show member pathways Dopamine clearance from the synaptic cleft ⁶⁶ Enzymatic degradation of dopamine by COMT ⁶⁶ Enzymatic degradation of Dopamine by monoamine oxidase ⁶⁶ L-dopa degradation ¹ Metabolism of serotonin ⁶⁶ Serotonin clearance from the synaptic cleft ⁶⁶	10.78	BCHE ACHE
6	Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	10.1	CHRNE CHRND CHRNB1 CHRNA1 BCHE

Sources

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

Sources for Neuromuscular Junction Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia