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MCID: NRM005
MIFTS: 62

Neuromuscular Disease

Categories: Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Neuromuscular Disease

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MalaCards integrated aliases for Neuromuscular Disease:

Name: Neuromuscular Disease 12 58 29 6 15 17
Neuromuscular Diseases 54 44 15 70
Neuromuscular Disorders 42
Neuromuscular Disorder 39

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:440
ICD9CM 34 358
MeSH 44 D009468
SNOMED-CT 67 1664005
ICD10 32 G70.9
MESH via Orphanet 45 D009468
UMLS via Orphanet 71 C0027868
Orphanet 58 ORPHA68381
UMLS 70 C0027868
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Summaries for Neuromuscular Disease

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MedlinePlus : 42 Neuromuscular disorders affect your neuromuscular system. They can cause problems with The nerves that control your muscles Your muscles Communication between your nerves and muscles These disorders can cause your muscles to become weak and waste away. You may also have symptoms such as spasms, twitching, and pain. Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Muscular dystrophy Myasthenia gravis Spinal muscular atrophy There can be different causes for these diseases. Many of them are genetic.This means they are inherited (run in families) or are caused by a new mutation in your genes. Some neuromuscular disorders are autoimmune diseases. Sometimes the cause is unknown. Many neuromuscular diseases have no cure. But treatments may improve symptoms, increase mobility, and lengthen life.

MalaCards based summary : Neuromuscular Disease, also known as neuromuscular diseases, is related to spinal muscular atrophy and central core disease of muscle, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Neuromuscular Disease is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Arrhythmogenic right ventricular cardiomyopathy. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, spinal cord and bone, and related phenotypes are behavior/neurological and homeostasis/metabolism

Disease Ontology : 12 A neuropathy that affect the nerves that control the voluntary muscles.

Wikipedia : 73 Neuromuscular disease is a broad term that encompasses many diseases and ailments that impair the... more...

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Related Diseases for Neuromuscular Disease

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

(show top 50) (show all 756)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 32.9 TRPV4 SMN2 SMN1 RYR1 LMNA DMD
2 central core disease of muscle 32.8 RYR1 DES
3 myopathy, myofibrillar, 1 32.8 TTN SYNC LMNA LDB3 DMD DES
4 myopathy 32.7 UTRN TTN-AS1 TTN SYNC SMN1 SGCD
5 muscular dystrophy 32.6 UTRN TTN-AS1 TTN SYNC SGCD RYR1
6 myofibrillar myopathy 32.6 TTN-AS1 TTN SYNC MYH7 LOC110121486 LMNA
7 charcot-marie-tooth disease 32.5 TRPV4 SMN2 LMNA EMD DCTN1
8 emery-dreifuss muscular dystrophy 1, x-linked 32.5 LMNA EMD
9 myopathy, myofibrillar, 3 32.5 TTN SYNC LDB3 DMD
10 isolated elevated serum creatine phosphokinase levels 32.4 TTN RYR1 LMNA DMD
11 myopathy, myofibrillar, 5 32.4 TTN SYNC LDB3 DMD
12 scapuloperoneal myopathy 32.4 MYH7 MHRT ACTA1
13 myopathy, myofibrillar, 4 32.4 TTN LOC110121486 LDB3
14 spinal muscular atrophy, distal, autosomal recessive, 4 32.4 SMN2 SMN1 DCTN1
15 neuronopathy, distal hereditary motor, type va 32.3 SMN2 SMN1 DCTN1
16 respiratory failure 32.2 TTN-AS1 TTN RYR1 MYH7 DMD DCTN1
17 spinal muscular atrophy, x-linked 2 32.1 SMN2 SMN1
18 muscular atrophy 32.1 TTN TRPV4 SMN2 SMN1 RYR1 LMNA
19 myopathy, myofibrillar, 2 32.1 SYNC LDB3
20 anterior horn cell disease 32.0 SMN2 SMN1
21 muscular dystrophy, duchenne type 31.9 UTRN TTN SGCD DMD
22 batten-turner congenital myopathy 31.7 TTN-AS1 TTN RYR1 MYH7 LDB3 DMD
23 scoliosis 31.6 TTN-AS1 TTN TRPV4 RYR1 DMD
24 limb-girdle muscular dystrophy 31.5 TTN-AS1 TTN SGCD LMNA
25 congenital myasthenic syndrome 31.5 UTRN TTN SMN2 SMN1 RYR1 MYH7
26 motor neuron disease 31.5 TRPV4 SMN2 SMN1 DCTN1
27 muscular dystrophy, congenital, lmna-related 31.4 TTN-AS1 TTN RYR1 MYH7 LMNA LDB3
28 muscular dystrophy, becker type 31.4 UTRN SYNC SGCD DMD
29 left ventricular noncompaction 31.4 UTRN TTN-AS1 TTN MYH7 MHRT LOC110121486
30 hypertrophic cardiomyopathy 31.2 TTN-AS1 TTN SGCD MYH7 MHRT LMNA
31 dilated cardiomyopathy 31.2 TTN-AS1 TTN SGCD MYH7 MHRT LOC110121486
32 congenital fiber-type disproportion 31.2 TTN RYR1 MYH7 MHRT LMNA EMD
33 centronuclear myopathy 31.2 TTN-AS1 TTN RYR1 DMD DES ACTA1
34 muscular disease 31.2 UTRN TTN SMN2 SMN1 SGCD RYR1
35 malignant hyperthermia 31.1 RYR1 MYH7 DMD
36 dystrophinopathies 31.1 UTRN DMD
37 peripheral nervous system disease 31.1 TRPV4 SMN2 SMN1 RYR1 LMNA DMD
38 atrial standstill 1 31.1 TTN-AS1 TTN MYH7 MHRT LMNA EMD
39 emery-dreifuss muscular dystrophy 31.0 TTN LMNA LDB3 EMD DMD DES
40 muscular dystrophy, limb-girdle, autosomal recessive 2 31.0 TTN SGCD LMNA DMD DES
41 barth syndrome 30.9 TTN MYH7 LDB3
42 arrhythmogenic right ventricular cardiomyopathy 30.9 TTN SGCD RYR1 MYH7 LMNA LDB3
43 restrictive cardiomyopathy 30.9 TTN-AS1 TTN MYH7 MHRT LMNA LDB3
44 multiminicore disease 30.9 TTN-AS1 TTN RYR1
45 familial isolated dilated cardiomyopathy 30.9 TTN-AS1 TTN SGCD MYH7 LOC110121486 LMNA
46 rigid spine muscular dystrophy 1 30.8 TTN RYR1 MYH7 LMNA LDB3 EMD
47 autosomal recessive limb-girdle muscular dystrophy 30.8 UTRN TTN-AS1 TTN SGCD LMNA DMD
48 foot drop 30.8 TTN ACTA1
49 bethlem myopathy 1 30.8 SGCD RYR1 MYH7 LMNA EMD DMD
50 cardiomyopathy, familial hypertrophic, 1 30.8 TTN MYH7 MHRT LMNA DMD DES

Comorbidity relations with Neuromuscular Disease via Phenotypic Disease Network (PDN):


Acute Cystitis Heart Disease
Swallowing Disorders

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



Diseases related to Neuromuscular Disease
Sources

Symptoms & Phenotypes for Neuromuscular Disease

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UMLS symptoms related to Neuromuscular Disease:


seizures; tremor; myoclonus; back pain; headache; torticollis; syncope; athetosis; pain; chronic pain; sciatica; vertigo/dizziness; sleeplessness; muscle cramp; muscle spasticity

MGI Mouse Phenotypes related to Neuromuscular Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ACTA1 DCTN1 DES DMD EMD LDB3
2 homeostasis/metabolism MP:0005376 10.16 ACTA1 DCTN1 DES DMD EMD LDB3
3 cardiovascular system MP:0005385 10.13 DES DMD EMD LDB3 LMNA MYH7
4 mortality/aging MP:0010768 9.97 ACTA1 DCTN1 DES DMD LDB3 LMNA
5 muscle MP:0005369 9.86 ACTA1 DCTN1 DES DMD EMD LDB3
6 respiratory system MP:0005388 9.17 DMD LDB3 LMNA RYR1 SMN2 TRPV4
Sources

Drugs & Therapeutics for Neuromuscular Disease

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Edaravone Approved, Investigational Phase 2, Phase 3 89-25-8 70335
4
Riluzole Approved, Investigational Phase 2, Phase 3 1744-22-5 5070
5
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
6
Deflazacort Approved, Investigational Phase 3 14484-47-0
7
Cyclobenzaprine Approved Phase 3 303-53-7 2895
8
Tauroursodeoxycholic acid Experimental, Investigational Phase 2, Phase 3 14605-22-2 12443252
9 Neurotransmitter Agents Phase 2, Phase 3
10 Excitatory Amino Acid Antagonists Phase 2, Phase 3
11 Neuroprotective Agents Phase 2, Phase 3
12 Anticonvulsants Phase 2, Phase 3
13 Hormones Phase 3
14 Immunosuppressive Agents Phase 3
15 Hormone Antagonists Phase 3
16 glucocorticoids Phase 3
17 Antineoplastic Agents, Hormonal Phase 3
18 4-phenylbutyric acid Phase 2, Phase 3
19 Psychotropic Drugs Phase 3
20 Antidepressive Agents Phase 3
21 Antidepressive Agents, Tricyclic Phase 3
22
Catechin Approved, Withdrawn Phase 1, Phase 2 154-23-4 9064
23
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
24
Guaifenesin Approved, Investigational, Vet_approved Phase 2 93-14-1 3516
25
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 2 14838-15-4 26934
26
Epicatechin Investigational Phase 1, Phase 2 490-46-0 72276
27
Tocopherylquinone Experimental, Investigational Phase 2 7559-04-8 24205
28 Tea Phase 1, Phase 2
29 Anti-Infective Agents Phase 1, Phase 2
30 Antiviral Agents Phase 1, Phase 2
31 Respiratory System Agents Phase 1, Phase 2
32 Antidotes Phase 1, Phase 2
33 Expectorants Phase 1, Phase 2
34 N-monoacetylcystine Phase 1, Phase 2
35 Mitogens Phase 2
36 Immunoglobulin G Phase 2
37 Immunoglobulins Phase 2
38 Immunoglobulins, Intravenous Phase 2
39 Antibodies Phase 2
40 Antibodies, Monoclonal Phase 2
41 Antioxidants Phase 2
42 Protective Agents Phase 2
43 Anticoagulants Phase 2
44 Chlorpheniramine, phenylpropanolamine drug combination Phase 2
45 Antihypertensive Agents Phase 2
46
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
47 Hypoglycemic Agents Phase 1
48
Iron Approved 7439-89-6 23925 29936
49
Zidovudine Approved 30516-87-1 35370
50
Oseltamivir Approved 196618-13-0, 204255-11-8 65028

Interventional clinical trials:

(show top 50) (show all 191)
# Name Status NCT ID Phase Drugs
1 A Pilot Study: Comparing Physiological Parameters and Outcome Variables Using Pressure Support Ventilation Versus Pressure Controlled Ventilation in Patients With Chronic Respiratory Failure Unknown status NCT00994552 Phase 4
2 Non-Invasive Positive Pressure Mask Ventilation vs Extrathoracic Biphasic Cuirass Ventilation in Patients With Acute Respiratory Failure: A Randomized Prospective Study. Unknown status NCT00331656 Phase 4
3 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
4 A Randomized Trial to Compare the Effectiveness of Hospital or Ambulatory Approach for Adaptation to Non-Invasive Mechanical Ventilation in Patients With Chronic Respiratory Failure Secondary to Neuromuscular Diseases or Thoracic Cage Alterations Completed NCT00698958 Phase 4
5 Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS) in a Representative Iranian Population Unknown status NCT03272802 Phase 2, Phase 3 Edaravone;Riluzole
6 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
7 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
8 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia Completed NCT02436096 Phase 3 TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
9 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
10 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
11 Evaluation of the Safety, Tolerability, Efficacy and Activity of AMX0035, a Fixed Combination of Phenylbutyrate (PB) and Tauroursodeoxycholic Acid (TUDCA), for the Treatment of ALS Completed NCT03127514 Phase 2, Phase 3 AMX0035
12 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Active, not recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
13 Evaluation of a Mechanical Insufflation-exsufflation Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders: a Prospective, Randomized, Controlled, Multicenter Study Terminated NCT00839033 Phase 3
14 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study To Evaluate The EFFIcacy and Safety of TNX-102 SL Tablets Taken Daily At Bedtime In Patients With FibRoMyalgia Terminated NCT02829814 Phase 3 TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
15 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
16 An Open-label Pilot Study of Purified Tea-derived Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy. Completed NCT01856868 Phase 1, Phase 2 (-)-epicatechin
17 UCD0115B: An Open-label Extension Study of Purified Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy Completed NCT03236662 Phase 2 (-)-Epicatechin
18 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
19 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Safety and Efficacy of Intravenous Delivery of Allogeneic Cardiosphere-Derived Cells in Subjects With Duchenne Muscular Dystrophy Completed NCT03406780 Phase 2 Placebo
20 A Clinical Trial to Optimise Patient-ventilator Interaction in Patients With Chronic Respiratory Failure Completed NCT01371149 Phase 2
21 P300 Brain Computer Interface Keyboard to Operate Assistive Technology Completed NCT00860951 Phase 1, Phase 2
22 Phase 2 Active Treatment Study to Evaluate the Efficacy and Safety of SRK-015 in Patients With Later-Onset Spinal Muscular Atrophy (TOPAZ) Active, not recruiting NCT03921528 Phase 2
23 Measurement of Assisted Vital Capacity to Appreciate the Level of Recruitment in Neuromuscular Diseases Terminated NCT02022072 Phase 2
24 A Phase 2a, Double Blind, Randomized, Placebo-controlled, 28 Day, Two-arm, Parallel Group Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation and Evidence of Impaired Mitochondrial Function Terminated NCT01074359 Phase 2 A0001 (alpha-tocopherolquinone);Placebo
25 Randomized Trial Comparing Telemedicine Monitoring and Titration in Patients Initiating Non-invasive Ventilation With Usual Care (TELEMOTINIV Study) Unknown status NCT01560741 Phase 1
26 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
27 The Evaluation of Therapeutic Riding in Children and Adolescent With Kinetic Deficits Because of Neuromuscular Disease. Completed NCT01621984 Phase 1
28 An Open-Label Pilot Study of Pioglitazone in Sporadic Inclusion Body Myositis Completed NCT03440034 Phase 1 Pioglitazone
29 Crossover Trial of VPAP (Variable Positive Airway Pressure) Ventilation Versus AutoVPAP in Neuromuscular and Chest Wall Disease: Effects on Nocturnal Hypoventilation, Sleep Quality and Tolerance Completed NCT00252252 Phase 1
30 An Open-label, Phase 1 Trial for Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell("HYNR-CS-Allo Inj") Treatment in Amyotrophic Lateral Sclerosis(ALS) Completed NCT01758510 Phase 1
31 Multimodal Measurement of Respiratory Muscle Strength and Function: Validation of Volitional and Non-volitional Tests With Regard to Nocturnal Hypoventilation in Patients With Neuromuscular Disorders and Chronic Obstructive Pulmonary Disease Unknown status NCT03032562
32 A Study to Evaluate the Sensitivity, Specificity, and Overall Accuracy of an Amyotrophic Lateral Sclerosis Diagnostic Test Developed by Iron Horse Diagnostics Unknown status NCT02759913
33 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705
34 Validation of a German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders Unknown status NCT02833168
35 Response to NonInvasive Mechanical Ventilation According to the Breathing Pattern Unknown status NCT01991535
36 Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment Unknown status NCT02789059
37 Non-Invasive Respiratory Monitor Unknown status NCT02851043
38 Investigating The Effects of Fear of Falling on Physical Performance and Quality of Life in Children With Duchenne Muscular Dystrophy Unknown status NCT03507530
39 Neuropsychological and Psychosocial Follow up of Children and Adolescents With Neuromuscular Disease Unknown status NCT02253290
40 Effect of Functional Massage in Gastrocnemious Muscles Neuromuscular Response Unknown status NCT03964961
41 Installation of Non-invasive Ventilation at Home Using Telemedicine : a Pilot Study on Feasibility and Impact on Ventilation Compliance Unknown status NCT02103790
42 Prospective Evaluation of Bulbar Function in Neuromuscular Patients Unknown status NCT02097368
43 Implementation and Evaluation of Solution Focused Coaching Strategy Within a Paediatric Multidisciplinary Neuromuscular Clinic Unknown status NCT02997514
44 Effects of Pre-event Massage Over the Neuromuscular Response of Gastrocnemius Muscles Unknown status NCT03941067
45 Efficacy of Surgical Treatment by Different Pedicle Screw Systems in Pediatric Neuromuscular Spinal Deformity Unknown status NCT03863496
46 Effectiveness Monitoring of Home Non-invasive Mechanical Ventilation by Pressure and Flow-time Signals Analysis Integrated on Digital Diagnosis Platform. Unknown status NCT03085537
47 MR in Patients With Neuromuscular Diseases Unknown status NCT03693898
48 National Registry for Egyptian Pediatric Neuromuscular Diseases Unknown status NCT02124616
49 A Pilot Study to Investigate the Physiological and Clinical Effects of Heated Humidification During Non-Invasive Ventilation Unknown status NCT01372072
50 Prospective Cohort Follow-up of French Patients With Profound and Multiple Disabilities: Healthcare Pathways and Quality of Life Among Patients and Their Families Unknown status NCT02400528

Search NIH Clinical Center for Neuromuscular Disease

Cochrane evidence based reviews: neuromuscular diseases

Sources

Genetic Tests for Neuromuscular Disease

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Genetic tests related to Neuromuscular Disease:

# Genetic test Affiliating Genes
1 Neuromuscular Disease 29
Sources

Anatomical Context for Neuromuscular Disease

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MalaCards organs/tissues related to Neuromuscular Disease:

40
Skeletal Muscle, Spinal Cord, Bone, Heart, Kidney, Lung, Eye
Sources

Publications for Neuromuscular Disease

About this section

Articles related to Neuromuscular Disease:

(show top 50) (show all 6315)
# Title Authors PMID Year
1
Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. 61 6
1178008 1975
2
Novel Genetic Triggers and Genotype-Phenotype Correlations in Patients With Left Ventricular Noncompaction. 6
28798025 2017
3
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. 6
28679633 2017
4
Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G-Actin. 6
28349680 2017
5
Mitochondrial dysfunction in myofibrillar myopathy. 6
27618136 2016
6
Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 6
25637381 2015
7
Structure of the F-actin-tropomyosin complex. 6
25470062 2015
8
A rare mutation in MYH7 gene occurs with overlapping phenotype. 6
25576864 2015
9
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
10
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. 6
25476234 2014
11
Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories. 6
24915601 2014
12
RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. 6
24951453 2014
13
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 6
24664454 2014
14
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. 6
24668811 2014
15
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 6
24627108 2014
16
ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle. 6
24647531 2014
17
Using exome data to identify malignant hyperthermia susceptibility mutations. 6
24195946 2013
18
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 6
23975875 2013
19
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. 6
23553787 2013
20
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. 6
23815709 2013
21
Myosinopathies: pathology and mechanisms. 6
22918376 2013
22
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 6
22473935 2012
23
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. 6
21395566 2012
24
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. 6
22153487 2012
25
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. 6
21455645 2011
26
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. 6
20696008 2011
27
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. 6
21062345 2011
28
RYR1 mutations are a common cause of congenital myopathies with central nuclei. 6
20839240 2010
29
MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. 6
20733148 2010
30
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 6
20080402 2010
31
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. 6
19716701 2009
32
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. 6
19446900 2009
33
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. 6
19645060 2009
34
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 6
19562689 2009
35
Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. 6
19377068 2009
36
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 6
19587455 2009
37
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 6
19477645 2009
38
Distinct muscle imaging patterns in myofibrillar myopathies. 6
18765652 2008
39
A novel mutation in a large French-Canadian family with LGMD1B. 6
18714801 2008
40
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. 6
18253926 2008
41
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 6
18646565 2007
42
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 6
17377071 2007
43
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. 6
17483490 2007
44
Zaspopathy in a large classic late-onset distal myopathy family. 6
17337483 2007
45
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. 6
17355552 2007
46
Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes. 6
17227580 2007
47
Mutations in ZASP define a novel form of muscular dystrophy in humans. 6
15668942 2005
48
[Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]. 6
15678000 2005
49
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). 6
15322983 2004
50
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 6
15226407 2004
Sources

Variations for Neuromuscular Disease

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ClinVar genetic disease variations for Neuromuscular Disease:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV4 NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) SNV Pathogenic 30472 rs387906904 GRCh37: 12:110240814-110240814
GRCh38: 12:109803009-109803009
2 TRPV4 NM_021625.4(TRPV4):c.232G>T (p.Gly78Trp) SNV Pathogenic 30474 rs397514474 GRCh37: 12:110252370-110252370
GRCh38: 12:109814565-109814565
3 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 GRCh37: 12:110238470-110238470
GRCh38: 12:109800665-109800665
4 TRPV4 NM_021625.4(TRPV4):c.947G>A (p.Arg316His) SNV Pathogenic 30473 rs387906905 GRCh37: 12:110236624-110236624
GRCh38: 12:109798819-109798819
5 TRPV4 NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) SNV Pathogenic 39419 rs397514494 GRCh37: 12:110246103-110246103
GRCh38: 12:109808298-109808298
6 TRPV4 NM_021625.4(TRPV4):c.1772A>G (p.Tyr591Cys) SNV Pathogenic 126467 rs515726157 GRCh37: 12:110230509-110230509
GRCh38: 12:109792704-109792704
7 TRPV4 NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) SNV Pathogenic 126480 rs187864727 GRCh37: 12:110240859-110240859
GRCh38: 12:109803054-109803054
8 TRPV4 NM_021625.4(TRPV4):c.1625C>A (p.Ser542Tyr) SNV Pathogenic 30469 rs387906902 GRCh37: 12:110231365-110231365
GRCh38: 12:109793560-109793560
9 TRPV4 NM_021625.4(TRPV4):c.2396C>G (p.Pro799Arg) SNV Pathogenic 18432 rs121912637 GRCh37: 12:110222183-110222183
GRCh38: 12:109784378-109784378
10 TRPV4 NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) SNV Pathogenic 4999 rs267607143 GRCh37: 12:110236628-110236628
GRCh38: 12:109798823-109798823
11 TRPV4 NM_021625.4(TRPV4):c.826A>G (p.Lys276Glu) SNV Pathogenic 30476 rs387906907 GRCh37: 12:110238450-110238450
GRCh38: 12:109800645-109800645
12 TRPV4 NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) SNV Pathogenic 4993 rs121912633 GRCh37: 12:110230201-110230201
GRCh38: 12:109792396-109792396
13 TRPV4 NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) SNV Pathogenic 5002 rs267607146 GRCh37: 12:110238471-110238471
GRCh38: 12:109800666-109800666
14 TRPV4 NM_021625.4(TRPV4):c.2219C>T (p.Thr740Ile) SNV Pathogenic 30475 rs387906906 GRCh37: 12:110224632-110224632
GRCh38: 12:109786827-109786827
15 TRPV4 NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) SNV Pathogenic 4994 rs77975504 GRCh37: 12:110230500-110230500
GRCh38: 12:109792695-109792695
16 TRPV4 NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) SNV Pathogenic 5001 rs267607145 GRCh37: 12:110236625-110236625
GRCh38: 12:109798820-109798820
17 TRPV4 NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) SNV Pathogenic 18434 rs267607148 GRCh37: 12:110238444-110238444
GRCh38: 12:109800639-109800639
18 TRPV4 NM_021625.4(TRPV4):c.2389G>A (p.Glu797Lys) SNV Pathogenic 18435 rs267607149 GRCh37: 12:110222190-110222190
GRCh38: 12:109784385-109784385
19 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic 159856 rs200563280 GRCh37: 19:38987106-38987106
GRCh38: 19:38496466-38496466
20 MYH7 , MHRT NM_000257.4(MYH7):c.5177_5179AGA[3] (p.Lys1729del) Microsatellite Pathogenic 42096 rs367543052 GRCh37: 14:23884685-23884687
GRCh38: 14:23415476-23415478
21 ACTA1 NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) SNV Pathogenic 228243 rs121909525 GRCh37: 1:229567741-229567741
GRCh38: 1:229431994-229431994
22 EMD NM_000117.3(EMD):c.266-2A>G SNV Pathogenic 163403 rs727503036 GRCh37: X:153608592-153608592
GRCh38: X:154380232-154380232
23 LMNA NM_170707.4(LMNA):c.1608+1G>A SNV Pathogenic 66853 rs267607592 GRCh37: 1:156107024-156107024
GRCh38: 1:156137233-156137233
24 TRPV4 NM_021625.4(TRPV4):c.2396_2412del (p.Pro799fs) Deletion Pathogenic 126478 rs515726166 GRCh37: 12:110222167-110222183
GRCh38: 12:109784362-109784378
25 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) SNV Pathogenic 133012 rs193922839 GRCh37: 19:39025415-39025415
GRCh38: 19:38534775-38534775
26 LDB3 , LOC110121486 NM_007078.3(LDB3):c.690-4678C>T SNV Pathogenic 4728 rs121908334 GRCh37: 10:88446975-88446975
GRCh38: 10:86687218-86687218
27 MYH7 NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) SNV Pathogenic 43069 rs397516248 GRCh37: 14:23884362-23884362
GRCh38: 14:23415153-23415153
28 EMD NM_000117.2(EMD):c.650_654dupTGGGC Microsatellite Pathogenic 179133 rs730880352 GRCh37: X:153609432-153609433
GRCh38: X:154381072-154381073
29 EMD NM_000117.3(EMD):c.83-2A>G SNV Likely pathogenic 179496 rs727504901 GRCh37: X:153608048-153608048
GRCh38: X:154379688-154379688
30 DES NM_001927.4(DES):c.1360C>T (p.Arg454Trp) SNV Likely pathogenic 66402 rs267607490 GRCh37: 2:220290456-220290456
GRCh38: 2:219425734-219425734
31 LMNA NM_170707.4(LMNA):c.1146C>T (p.Gly382=) SNV Likely pathogenic 48032 rs57508089 GRCh37: 1:156105901-156105901
GRCh38: 1:156136110-156136110
32 LMNA NM_170707.4(LMNA):c.1609-3C>G SNV Likely pathogenic 66856 rs267607581 GRCh37: 1:156107442-156107442
GRCh38: 1:156137651-156137651
33 DES NM_001927.4(DES):c.1285C>T (p.Arg429Ter) SNV Likely pathogenic 177872 rs150974575 GRCh37: 2:220288539-220288539
GRCh38: 2:219423817-219423817
34 DES NM_001927.4(DES):c.35C>T (p.Ser12Phe) SNV Likely pathogenic 66412 rs267607495 GRCh37: 2:220283219-220283219
GRCh38: 2:219418497-219418497
35 DES NM_001927.4(DES):c.600del (p.Lys201fs) Deletion Likely pathogenic 178660 rs727504448 GRCh37: 2:220284838-220284838
GRCh38: 2:219420116-219420116
36 RYR1 NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) SNV Likely pathogenic 133075 rs193922879 GRCh37: 19:39071022-39071022
GRCh38: 19:38580382-38580382
37 SGCD NM_000337.5(SGCD):c.294+1G>A SNV Likely pathogenic 165232 rs727503422 GRCh37: 5:155935713-155935713
GRCh38: 5:156508703-156508703
38 TTN-AS1 , TTN NM_001267550.2(TTN):c.76389_76392AACA[1] (p.Thr25464_Asn25465insTer) Microsatellite Likely pathogenic 178839 rs727504483 GRCh37: 2:179434463-179434466
GRCh38: 2:178569736-178569739
39 SGCD NM_000337.5(SGCD):c.390del (p.Ala131fs) Deletion Likely pathogenic 48118 rs397517921 GRCh37: 5:156021946-156021946
GRCh38: 5:156594936-156594936
40 TTN NM_001267550.2(TTN):c.15496+1G>A SNV Likely pathogenic 46601 rs397517481 GRCh37: 2:179599054-179599054
GRCh38: 2:178734327-178734327
41 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain significance 370045 rs1057516057 GRCh37: MT:3275-3275
GRCh38: MT:3275-3275
Sources

Expression for Neuromuscular Disease

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

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

# Super pathways Score Top Affiliating Genes
1
Cytoskeletal Signaling 4
12.14 LMNA EMD DES DCTN1 ACTA1
2
Arrhythmogenic right ventricular cardiomyopathy 36 1
11.54 SGCD LMNA EMD DMD DES
3
Dilated cardiomyopathy 36
Show member pathways
 11.44 TTN SGCD MYH7 LMNA EMD DMD
4
Striated Muscle Contraction 1 65
11.31 TTN DMD DES ACTA1
5
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.6 DMD ACTA1
Sources

GO Terms for Neuromuscular Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.2 UTRN TTN SYNC SMN2 SMN1 SGCD
2 cytoskeleton GO:0005856 10.04 UTRN SGCD LDB3 DMD DES DCTN1
3 neuromuscular junction GO:0031594 9.58 UTRN SYNC DES
4 filopodium GO:0030175 9.56 UTRN TRPV4 DMD ACTA1
5 stress fiber GO:0001725 9.54 MYH7 LDB3 ACTA1
6 SMN-Sm protein complex GO:0034719 9.52 SMN2 SMN1
7 filopodium membrane GO:0031527 9.51 UTRN DMD
8 Gemini of coiled bodies GO:0097504 9.48 SMN2 SMN1
9 SMN complex GO:0032797 9.46 SMN2 SMN1
10 striated muscle thin filament GO:0005865 9.43 TTN ACTA1
11 sarcolemma GO:0042383 9.43 UTRN SYNC SGCD RYR1 DMD DES
12 dystrophin-associated glycoprotein complex GO:0016010 9.33 UTRN SGCD DMD
13 Z disc GO:0030018 9.28 TTN SYNC SMN2 SMN1 RYR1 MYH7

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.55 UTRN SGCD LMNA EMD DMD
2 striated muscle contraction GO:0006941 9.46 TTN MYH7
3 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 UTRN DMD
4 cardiac muscle contraction GO:0060048 9.43 TTN MYH7 DMD
5 DNA-templated transcription, termination GO:0006353 9.4 SMN2 SMN1
6 mitotic nuclear envelope reassembly GO:0007084 9.37 LMNA EMD
7 muscle filament sliding GO:0030049 9.35 TTN MYH7 DMD DES ACTA1
8 skeletal muscle thin filament assembly GO:0030240 9.32 TTN ACTA1
9 muscle contraction GO:0006936 9.23 UTRN TTN RYR1 PABPN1 MYH7 EMD

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.54 DMD DES ACTA1
2 calmodulin binding GO:0005516 9.46 TTN TRPV4 RYR1 MYH7
3 actin filament binding GO:0051015 9.35 UTRN TTN TRPV4 MYH7 DMD
4 muscle alpha-actinin binding GO:0051371 9.32 TTN LDB3
5 vinculin binding GO:0017166 9.26 UTRN DMD
6 actin binding GO:0003779 9.1 UTRN TRPV4 MYH7 LDB3 EMD DMD
Sources

Sources for Neuromuscular Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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