MCID: MSC190
MIFTS: 37

Muscular Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Muscular Disease

MalaCards integrated aliases for Muscular Disease:

Name: Muscular Disease 12 15 17

Classifications:



External Ids:

Disease Ontology 12 DOID:0080000

Summaries for Muscular Disease

Disease Ontology : 12 A musculoskeletal system disease that affects the muscles.

MalaCards based summary : Muscular Disease is related to myopathy and muscular dystrophy. An important gene associated with Muscular Disease is POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)), and among its related pathways/superpathways is Cell Differentiation - Index. The drugs Infliximab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and bone.

Wikipedia : 74 In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly.... more...

Related Diseases for Muscular Disease

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

(show top 50) (show all 349)
# Related Disease Score Top Affiliating Genes
1 myopathy 33.9 UTRN SERPINA3 RYR1 MYOG MYOD1 EPRS1
2 muscular dystrophy 31.7 UTRN RYR1 POMGNT2 MYOD1 DMD B3GNT2
3 neuromuscular disease 31.3 UTRN SERPINA3 RYR1 MYOG MYOD1 H2AC18
4 myositis 31.3 SERPINA3 RYR1 ICOSLG DMD
5 muscular dystrophy, duchenne type 31.3 UTRN MYOD1 MIR675 MIR221 DMD
6 muscular dystrophy, becker type 31.0 UTRN MYOD1 MIR221 DMD B3GNT2
7 collagen disease 30.8 SERPINA3 H2AC18 CCR6
8 amyotrophic lateral sclerosis 1 30.8 UTRN U2AF1 SERPINA3 MIR9-1 MIR142 H2AC18
9 muscular dystrophy, congenital, lmna-related 30.8 MYOG MYOD1 DMD B3GNT2
10 inclusion body myositis 30.7 SERPINA3 MIR221 ICOSLG
11 muscular dystrophy-dystroglycanopathy , type a, 4 30.7 RNU4ATAC POMGNT2 DMD B3GNT2
12 myopathy, congenital 30.7 RYR1 MYOG DMD
13 systemic scleroderma 30.6 MIR142 ICOSLG H2AC18 CCR6
14 facioscapulohumeral muscular dystrophy 1 30.6 MYOG MYOD1 MIR221 DMD
15 histiocytosis 30.6 U2AF1 SERPINA3 CCR6
16 distal arthrogryposis 30.5 SERPINA3 RYR1 MYOD1 H2AC18
17 atrophic muscular disease 12.1
18 muscular dystrophy-dystroglycanopathy 10.9 POMGNT2 DMD B3GNT2
19 congenital muscular dystrophy-dystroglycanopathy type a 10.9 RNU4ATAC POMGNT2 DMD B3GNT2
20 cerebral degeneration 10.9 SERPINA3 H2AC18 EPRS1 CRYAA CCR6 B3GNT2
21 bacterial infectious disease 10.9 SERPINA3 ICOSLG H2AC18 CCR6
22 blood coagulation disease 10.9 U2AF1 SERPINA3 ICOSLG H2AC18 CCR6
23 mast cell neoplasm 10.9 U2AF1 SERPINA3 ICOSLG H2AC18
24 prion disease 10.9 SERPINA3 MIR9-1 MIR142 H2AC18 CRYAA
25 cervix carcinoma 10.9 U2AF1 SERPINA3 MIR199A1 H2AC18 CCR6
26 hypersensitivity reaction type iv disease 10.9 SERPINA3 ICOSLG H2AC18 CCR6
27 congenital nervous system abnormality 10.9 RNU4ATAC MIR9-1 H2AC18 EPRS1 CRYAA B3GNT2
28 ovary epithelial cancer 10.9 U2AF1 SERPINA3 MIR9-1 MIR199A1 ICOSLG H2AC18
29 oropharynx cancer 10.9 SERPINA3 MIR9-1 MIR199A1 H2AC18
30 malignant ovarian surface epithelial-stromal neoplasm 10.9 U2AF1 SERPINA3 MIR9-1 MIR199A1 ICOSLG H2AC18
31 parasitic protozoa infectious disease 10.9 SERPINA3 ICOSLG H2AC18 EPRS1 CCR6
32 autoimmune disease of central nervous system 10.9 U2AF1 SERPINA3 MIR9-1 MIR142 ICOSLG H2AC18
33 salivary gland disease 10.9 SERPINA3 ICOSLG H2AC18 CCR6
34 physical disorder 10.9 RNU4ATAC MIR9-1 H2AC18 EPRS1 CRYAA B3GNT2
35 intestinal benign neoplasm 10.9 SERPINA3 MIR199A1 MIR142 H2AC18 CCR6
36 parasitic helminthiasis infectious disease 10.9 SERPINA3 ICOSLG H2AC18 CCR6
37 extrinsic cardiomyopathy 10.9 SERPINA3 MIR199A1 MIR142 ICOSLG H2AC18 CCR6
38 commensal bacterial infectious disease 10.9 SERPINA3 ICOSLG H2AC18 CCR6
39 bile duct adenocarcinoma 10.9 SERPINA3 MIR9-1 MIR199A1 MIR142 H2AC18 CCR6
40 acute cystitis 10.9 SERPINA3 H2AC18 EPRS1 CCR6
41 bone resorption disease 10.9 SERPINA3 MIR199A1 MIR142 H2AC18 CCR6
42 autoimmune disease of musculoskeletal system 10.9 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
43 uveal disease 10.9 U2AF1 SERPINA3 MIR9-1 MIR199A1 MIR142 ICOSLG
44 gastrointestinal system benign neoplasm 10.9 SERPINA3 MIR199A1 MIR142 H2AC18 CCR6
45 amino acid metabolic disorder 10.9 SERPINA3 H2AC18 EPRS1 CRYAA
46 chromosomal disease 10.9 U2AF1 SERPINA3 MIR9-1 MIR142 H2AC18 EPRS1
47 specific developmental disorder 10.9 U2AF1 SERPINA3 RNU4ATAC MIR9-1 H2AC18 EPRS1
48 bronchial disease 10.9 SERPINA3 MIR142 ICOSLG H2AC18 CCR6
49 pharynx cancer 10.9 SERPINA3 MIR9-1 MIR199A1 MIR142 H2AC18 CCR6
50 cranial nerve disease 10.9 SERPINA3 ICOSLG CRYAA CCR6

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



Diseases related to Muscular Disease

Symptoms & Phenotypes for Muscular Disease

Drugs & Therapeutics for Muscular Disease

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Infliximab Approved Phase 2, Phase 3 170277-31-3
2 Dermatologic Agents Phase 2, Phase 3
3 Gastrointestinal Agents Phase 2, Phase 3
4 Antirheumatic Agents Phase 2, Phase 3
5 Antimetabolites Phase 2
6 Hypolipidemic Agents Phase 2
7 Anticholesteremic Agents Phase 2
8 Lipid Regulating Agents Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 Anti-Retroviral Agents Phase 2
11 Rosuvastatin Calcium Phase 2 147098-20-2
12 Calcium, Dietary Phase 2
13
Calcium Nutraceutical Phase 2 7440-70-2 271
14
Colchicine Approved Phase 1 64-86-8 2833 6167
15
Tacrolimus Approved, Investigational Phase 1 104987-11-3 445643 439492 6473866
16
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
17
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
18 Anti-Infective Agents Phase 1
19 Immunosuppressive Agents Phase 1
20 Cyclosporins Phase 1
21 Antifungal Agents Phase 1
22 Immunologic Factors Phase 1
23 Calcineurin Inhibitors Phase 1
24 Tubulin Modulators Phase 1
25 Antimitotic Agents Phase 1
26
leucovorin Approved 58-05-9 6006 143
27
Methotrexate Approved 59-05-2, 1959-05-2 126941
28
Prednisone Approved, Vet_approved 53-03-2 5865
29
Azathioprine Approved 446-86-6 2265
30
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
31 Immunoglobulins
32 Antibodies
33 Rho(D) Immune Globulin
34 Immunoglobulins, Intravenous
35 gamma-Globulins
36 Hormones
37 Vitamin B Complex
38 Hormone Antagonists
39 glucocorticoids
40 Folic Acid Antagonists
41 Antineoplastic Agents, Hormonal
42 Folate
43 Vitamin B9
44 Anti-Inflammatory Agents
45 Tea
46 Pharmaceutical Solutions
47 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 An Open Trial With TNF Blockade With Infliximab (Remicade®), in Patients With Chronic Inflammatory Myopathies Completed NCT00443222 Phase 2, Phase 3 Infliximab
2 Pilot Study of the Impact of Rosuvastatin Administration on Residual Chronic Immune Activation Under Antiretroviral Therapy: CESAR (Crestor En Sus Des AntiRétroviraux) Unknown status NCT01874743 Phase 2 Rosuvastatin 20 mg/day
3 Feasibility and Impact of Qigong as Compared to Aerobic Exercise in the Treatment of Childhood Chronic Musculoskeletal Pain: A Pilot Randomized Controlled Trial. Completed NCT00312234 Phase 2
4 An Open Non Randomized Comparative Study Exploring Drug Interaction Between Colchicine and Calcineurin Inhibitors in 2 Groups (Ciclosporin Group and Tacrolimus Group) of Renal Graft Recipients Completed NCT01160276 Phase 1 cyclosporine+colchicine;tacrolimus
5 The Evaluation of Therapeutic Riding in Children and Adolescent With Kinetic Deficits Because of Neuromuscular Disease. Completed NCT01621984 Phase 1
6 Prognstic Factors Affecting Duchenne Muscular Dystrophy Unknown status NCT03372655
7 Identification of the Mechanisms of Action of Intravenous Immunoglobulins in CIDP by Analysis of the Genetic Expression Profile in Blood Mononuclear Cells Unknown status NCT02404298 IVIg
8 Characterization of Skeletal Muscle Using Magnetic Resonance Elastography (MRE) Completed NCT00588432
9 Pre-frailty Status Increases the Risk of Rehospitalization and Mortality in Patients After Cardiac Surgery Without Complications Completed NCT03949439
10 High Intensity Interval Training in Patients With Facioscapulohumeral Muscular Dystrophy Completed NCT02159963
11 Outcome of Muscle Function and Disease Activity in Patients With Recent Onset Polymyositis and Dermatomyositis - a 1-year Follow-up Register Study Completed NCT01813617 Immunosuppressive Agents
12 Can Secondary Total Elbow Arthroplasty After Failed Internal Fixation or Non-operative Treatment of Distal Humeral Fractures Achieve Equal Results as Primary Arthroplasty? Completed NCT03302533
13 Effect of EPA and HMB on Diaphragm and Limb Muscle Strength in Mechanically Ventilated Patients Completed NCT01270516 HMB, hydroxymethylbutyrate;EPA, eicosapentaenoic acid;Saline
14 Tactile Sensitivity of the Oral Tissues and Chewing Efficiency Are Impaired in Stroke Patients Completed NCT02822391
15 Non-invasive Molecular Imaging to Determine Hemoglobin and Collagen Levels in Muscles Before and After Exercise, and Over Time Active, not recruiting NCT03979157
16 PReventing EXtubation FAILure by Cough Assistance and NIV in a Population Selected on Cough Peak Flow Not yet recruiting NCT03562000
17 Post Market Study of the Electrophysiological Course of Low Back Pain Using CERSR Technology Terminated NCT01403870
18 Quantitative Assessment of Train of Four Device for Patients Receiving Neuromuscular Blockade Withdrawn NCT02591108

Search NIH Clinical Center for Muscular Disease

Genetic Tests for Muscular Disease

Anatomical Context for Muscular Disease

MalaCards organs/tissues related to Muscular Disease:

40
Brain, Skeletal Muscle, Bone, Heart, Testes, Bone Marrow, Liver

Publications for Muscular Disease

Articles related to Muscular Disease:

(show top 50) (show all 296)
# Title Authors PMID Year
1
Urinary Dimethylamine (DMA) and Its Precursor Asymmetric Dimethylarginine (ADMA) in Clinical Medicine, in the Context of Nitric Oxide (NO) and Beyond. 61
32545708 2020
2
Quantitative Estimation of Passive Elastic Properties of Individual Skeletal Muscle in Vivo Using Normalized Elastic Modulus-Length Curve. 61
32286954 2020
3
Mortality and Cause of Death in Patients With Vertebral Fractures: A Longitudinal Follow-Up Study Using a National Sample Cohort. 61
31568093 2020
4
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation. 61
31691999 2020
5
Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy. 61
31957953 2020
6
Viral vectors for gene delivery to the inner ear. 61
32199720 2020
7
Myositis Induced by Isotretinoin: A Case Report and Literature Review. 61
31958335 2020
8
Deep Learning Technique for Musculoskeletal Analysis. 61
32030670 2020
9
Lameness, generalised myopathy and myalgia in an adult cat with toxoplasmosis. 61
32206329 2020
10
Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy. 61
31853262 2019
11
Transcriptomic Analysis Reveals Involvement of the Macrophage Migration Inhibitory Factor Gene Network in Duchenne Muscular Dystrophy. 61
31752120 2019
12
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice. 61
31479430 2019
13
[Elevated liver enzyme levels; not exclusive to liver disease]. 61
32073783 2019
14
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. 61
31601707 2019
15
Serum lactate dehydrogenase activity and its isoenzyme patterns in patients with pectus excavatum. 61
31737320 2019
16
Blockade of TRPV2 is a Novel Therapy for Cardiomyopathy in Muscular Dystrophy. 61
31394715 2019
17
Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy. 61
31188496 2019
18
[Nutritional problematic related to frailty and sarcopenia in older]. 61
31368339 2019
19
Expression of myxovirus-resistance protein A: a possible marker of muscle disease activity and autoantibody specificities in juvenile dermatomyositis. 61
29770465 2019
20
Microfluidic devices for disease modeling in muscle tissue. 61
30193908 2019
21
Interferon Chemokine Score and Other Cytokine Measures Track With Changes in Disease Activity in Patients With Juvenile and Adult Dermatomyositis. 61
31777784 2019
22
Heart Transplantation Ameliorates Ambulation Capacity in Patients With Muscular Dystrophy - An Analysis of 9 Cases. 61
30686808 2019
23
A nationwide survey on tracheostomy for very-low-birth-weight infants in Japan. 61
30525314 2019
24
Musculoskeletal Manifestations of Sarcoidosis: A Review Article. 61
29692254 2019
25
Muscle endurance deficits in myositis patients despite normal manual muscle testing scores. 61
30028529 2019
26
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. 61
30342904 2018
27
Cross-section and feasibility study on the non-invasive evaluation of muscle hemodynamic responses in Duchenne muscular dystrophy by using a near-infrared diffuse optical technique. 61
30319901 2018
28
Immunophenotyping lymphocyte and acute phase proteins in canine X-linked muscular dystrophy. 61
30304229 2018
29
Prevalence and Risk Factors for Musculoskeletal Pain in Keyboard Musicians: A Systematic Review. 61
29705171 2018
30
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. 61
30191544 2018
31
Pathological manifestations of Farber disease in a new mouse model. 61
29908121 2018
32
Characterization of miRNA transcriptome profiles related to breast muscle development and intramuscular fat deposition in chickens. 61
29737555 2018
33
Isometric Finger Pose Recognition with Sparse Channel SpatioTemporal EMG Imaging. 61
30441518 2018
34
Does muscle biopsy change the treatment of pediatric muscular disease? 61
29845315 2018
35
Feasibility of peripheral nerve MR neurography using diffusion tensor imaging adapted to skeletal muscle disease. 61
28795588 2018
36
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis. 61
29474663 2018
37
Energy expenditure, body composition, and prevalence of metabolic disorders in patients with Duchenne muscular dystrophy. 61
28869151 2018
38
Application of Quantitative Pharmacology Approaches in Bridging Pharmacokinetics and Pharmacodynamics of Domagrozumab From Adult Healthy Subjects to Pediatric Patients With Duchenne Muscular Disease. 61
29023829 2018
39
Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice. 61
29497113 2018
40
Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog. 61
29311426 2018
41
In Vitro Evaluation of Exon Skipping in Disease-Specific iPSC-Derived Myocytes. 61
30171542 2018
42
Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions. 61
29874176 2018
43
Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy. 61
28981141 2017
44
Anaesthetic management of patients with myopathies. 61
28719515 2017
45
Imaging of Myopathies. 61
28774448 2017
46
Polyurethane acrylates as effective substrates for sustained in vitro culture of human myotubes. 61
28435079 2017
47
Craniofacial Manifestations in Severe Nemaline Myopathy. 61
28468212 2017
48
Cutaneous manifestations in Steinert’s disease. Apropos of four clinical cases. 61
28702961 2017
49
The Use of Korean Medicine to Treat Patients with Spinobulbar Muscular Atrophy, Kennedy's Disease - A Case Study. 61
28392964 2017
50
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. 61
28069046 2017

Variations for Muscular Disease

Expression for Muscular Disease

Search GEO for disease gene expression data for Muscular Disease.

Pathways for Muscular Disease

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

# Super pathways Score Top Affiliating Genes
1 10.5 MYOD1 MIR9-1 MIR221 MIR199A1

GO Terms for Muscular Disease

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

# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.88 MIR9-1 MIR675 MIR221 MIR199A1 MIR142
2 skeletal muscle tissue development GO:0007519 9.54 MYOG MYOD1 DMD
3 negative regulation of osteoblast proliferation GO:0033689 9.46 MIR9-1 MIR675
4 myotube differentiation GO:0014902 9.43 MYOG MYOD1
5 positive regulation of skeletal muscle fiber development GO:0048743 9.4 MYOG MYOD1
6 skeletal muscle fiber development GO:0048741 9.33 RYR1 MYOG MYOD1
7 muscle cell fate commitment GO:0042693 9.32 MYOG MYOD1
8 myotube cell development GO:0014904 9.26 MYOD1 DMD
9 muscle organ development GO:0007517 9.26 UTRN MYOG MYOD1 DMD
10 response to denervation involved in regulation of muscle adaptation GO:0014894 8.8 UTRN MYOG DMD

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIR9-1 MIR675 MIR221 MIR199A1 MIR142
2 vinculin binding GO:0017166 8.96 UTRN DMD

Sources for Muscular 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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