Muscular Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Muscular Disease

MalaCards integrated aliases for Muscular Disease:

Name: Muscular Disease 12 15 17
Muscular Abnormality 6


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, also known as muscular abnormality, is related to neuromuscular disease and myositis. 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 Atorvastatin and Hydroxymethylglutaryl-CoA Reductase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, colon and bone marrow.

Wikipedia : 73 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 324)
# Related Disease Score Top Affiliating Genes
1 neuromuscular disease 30.6 SMN2 SERPINA3 RYR1 MYOG MYOD1 H2AC18
2 myositis 30.4 SERPINA3 RYR1 ICOSLG DMD
3 muscular dystrophy, congenital, lmna-related 30.4 RYR1 MYOG MYOD1 DMD B3GNT2
4 inclusion body myositis 30.4 SERPINA3 MIR21 ICOSLG
5 distal arthrogryposis 30.3 SERPINA3 RYR1 MYOD1 H2AC18
6 atrophic muscular disease 11.1
7 myopathy 10.8
8 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.8
9 muscular dystrophy-dystroglycanopathy , type c, 8 10.8
10 diaphragm disease 10.8
11 muscular dystrophy-dystroglycanopathy 10.7 POMGNT2 DMD B3GNT2
12 bacterial infectious disease 10.7 SERPINA3 ICOSLG H2AC18 CCR6
13 congenital muscular dystrophy-dystroglycanopathy type a 10.6 RNU4ATAC POMGNT2 DMD B3GNT2
14 autoimmune disease of cardiovascular system 10.6 SERPINA3 ICOSLG H2AC18 CCR6
15 mast cell neoplasm 10.6 U2AF1 SERPINA3 ICOSLG H2AC18
16 autoimmune disease of skin and connective tissue 10.6 SERPINA3 ICOSLG H2AC18 CCR6
17 muscular dystrophy-dystroglycanopathy , type a, 4 10.6 RNU4ATAC POMGNT2 DMD B3GNT2
18 hypersensitivity reaction type iv disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
19 commensal bacterial infectious disease 10.6 SERPINA3 ICOSLG H2AC18 CCR6
20 salivary gland disease 10.6 SERPINA3 RNU4ATAC ICOSLG H2AC18 CCR6
21 oropharynx cancer 10.6 SERPINA3 MIR9-1 MIR199A1 H2AC18
22 herpangina 10.6 RNU4ATAC ICOSLG H2AC18 CCR6
23 undifferentiated embryonal sarcoma of the liver 10.6 SERPINA3 MYOG MYOD1
24 hair disease 10.6 SERPINA3 RNU4ATAC ICOSLG H2AC18 CCR6
25 embryonal sarcoma 10.6 SERPINA3 MYOG MYOD1
26 histiocytosis 10.6 U2AF1 SERPINA3 CCR6
27 testicular disease 10.6 SERPINA3 MIR199A1 H2AC18 CCR6
28 cerebral degeneration 10.6 SERPINA3 H2AC18 EPRS1 CRYAA CCR6 B3GNT2
29 autoimmune disease of endocrine system 10.6 MIR142 ICOSLG H2AC18 CCR6
30 acute cystitis 10.6 SERPINA3 H2AC18 EPRS1 CCR6
31 bone resorption disease 10.6 SERPINA3 MIR199A1 MIR142 H2AC18 CCR6
32 chromosomal duplication syndrome 10.6 U2AF1 SERPINA3 MIR9-1 H2AC18 EPRS1 CRYAA
33 parasitic helminthiasis infectious disease 10.6 SERPINA3 MIR21 ICOSLG H2AC18 CCR6
34 bone remodeling disease 10.6 SERPINA3 MIR199A1 MIR142 H2AC18 CCR6
35 bacterial pneumonia 10.6 SERPINA3 ICOSLG H2AC18 CCR6
36 spinal cord disease 10.6 MIR142 ICOSLG H2AC18 CCR6
37 cranial nerve disease 10.6 SERPINA3 ICOSLG CRYAA CCR6
38 autoimmune disease of gastrointestinal tract 10.6 SERPINA3 MIR199A1 MIR142 ICOSLG H2AC18 CCR6
39 corneal disease 10.6 SERPINA3 H2AC18 CRYAA CCR6
40 progressive relapsing multiple sclerosis 10.6 SERPINA3 H2AC18 CCR6
41 gas gangrene 10.6 SERPINA3 MYOG MYOD1 DMD
42 pre-malignant neoplasm 10.6 SERPINA3 MIR142 H2AC18 CCR6
43 amino acid metabolic disorder 10.6 SERPINA3 H2AC18 EPRS1 CRYAA
44 chediak-higashi syndrome 10.6 SERPINA3 ICOSLG H2AC18 CCR6
45 blood platelet disease 10.6 U2AF1 SERPINA3 ICOSLG H2AC18 CCR6
46 mature t-cell and nk-cell lymphoma 10.6 MIR199A1 ICOSLG H2AC18 CCR6
47 autoimmune disease of urogenital tract 10.6 ICOSLG H2AC18 CCR6
48 thyroid gland disease 10.6 SERPINA3 MIR9-1 MIR199A1 MIR142 ICOSLG H2AC18
49 chromosomal deletion syndrome 10.6 MIR9-1 MIR142 ICOSLG H2AC18 CCR6
50 autoimmune disease of central nervous system 10.6 U2AF1 SERPINA3 MIR9-1 MIR142 ICOSLG H2AC18

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 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Atorvastatin Approved Phase 4 134523-00-5 60823
2 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
3 Anticholesteremic Agents Phase 4
4 Antimetabolites Phase 4
5 Lipid Regulating Agents Phase 4
6 Hypolipidemic Agents Phase 4

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Investigations on Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
2 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
3 The Evaluation of Therapeutic Riding in Children and Adolescent With Kinetic Deficits Because of Neuromuscular Disease. Completed NCT01621984 Phase 1
4 Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica Unknown status NCT02708784
5 Non-invasive Molecular Imaging to Determine Hemoglobin and Collagen Levels in Muscles Before and After Exercise, and Over Time Completed NCT03979157
6 Observational Study Into the Effect on Muscle Wasting and Multiple Organ Function of Ischaemia-reperfusion Injury After Major Aortic Surgery Completed NCT03354767
7 New Imaging Biomarkers for Muscular Diseases - Multispectral Optoacoustic Imaging in Spinal Muscular Atrophy Completed NCT04115475
8 Effectiveness Analysis of Active Stretching Versus Active Stretching With Low Frequency Currents Completed NCT02100241
9 Development of a New Scale of Quality of Life, Specific of Neuro Muscular Diseases and More Specifically of Steinert Disease, by the Rasch Model Methods. Completed NCT02895763
10 Evaluation of Therapeutic Response in Spinal Muscular Atrophy Using Multispectral Optoacoustic Tomography (MSOT) and Magnetic Resonance Imaging (MRI) Recruiting NCT04262570

Search NIH Clinical Center for Muscular Disease

Genetic Tests for Muscular Disease

Anatomical Context for Muscular Disease

MalaCards organs/tissues related to Muscular Disease:

Skeletal Muscle, Colon, Bone Marrow, Bone, Liver, Retina, Thyroid

Publications for Muscular Disease

Articles related to Muscular Disease:

(show top 50) (show all 342)
# Title Authors PMID Year
Importance of plasma ghrelin levels with special reference to nutritional metabolism and energy expenditure in pediatric patients with severe motor and intellectual disabilities. 61
33745575 2021
Reliability, Validity and Responsiveness of Physical Activity Monitors in Patients with Inflammatory Myopathy. 61
33714992 2021
Establishment of a Robust Platform for Induced Pluripotent Stem Cell Research Using Maholo LabDroid. 61
33775154 2021
Defects of full-length dystrophin trigger retinal neuron damage and synapse alterations by disrupting functional autophagy. 61
32749504 2021
Enhanced cell survival and therapeutic benefits of IL-10-expressing multipotent mesenchymal stromal cells for muscular dystrophy. 61
33541428 2021
MOTS-c promotes phosphorodiamidate morpholino oligomer uptake and efficacy in dystrophic mice. 61
33337582 2021
Prospective, double-blind, randomized, placebo-controlled phase III study evaluating efficacy and safety of octagam 10% in patients with dermatomyositis ("ProDERM Study"). 61
33429735 2021
Fully automated 3D segmentation of MR-imaged calf muscle compartments: Neighborhood relationship enhanced fully convolutional network. 61
33373972 2021
Quantitative Estimation of Passive Elastic Properties of Individual Skeletal Muscle in Vivo Using Normalized Elastic Modulus-Length Curve. 61
32286954 2020
Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp, DMD_OuMen_PhyMedEXp (INSRMi008-A, INSRMi009-A and INSRMi010-A). 61
33246213 2020
Generation of three Duchenne muscular dystrophy patient-derived induced pluripotent stem cell (iPSC) lines ICGi002-A, ICGi002-B and ICGi002-C. 61
32777771 2020
Viral vectors for gene delivery to the inner ear. 61
32199720 2020
Calcium entry units (CEUs): perspectives in skeletal muscle function and disease. 61
32812118 2020
Five transcriptional factors reprogram fibroblast into myogenic lineage cells via paraxial mesoderm stage. 61
32579865 2020
DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation. 61
32731450 2020
Urinary Dimethylamine (DMA) and Its Precursor Asymmetric Dimethylarginine (ADMA) in Clinical Medicine, in the Context of Nitric Oxide (NO) and Beyond. 61
32545708 2020
The effect of endurance training on levels of LINC complex proteins in skeletal muscle fibers of STZ-induced diabetic rats. 61
32457392 2020
Mortality and Cause of Death in Patients With Vertebral Fractures: A Longitudinal Follow-Up Study Using a National Sample Cohort. 61
31568093 2020
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation. 61
31691999 2020
Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy. 61
31957953 2020
Dystrophin Is Required for the Proper Timing in Retinal Histogenesis: A Thorough Investigation on the mdx Mouse Model of Duchenne Muscular Dystrophy. 61
32982660 2020
Myositis Induced by Isotretinoin: A Case Report and Literature Review. 61
31958335 2020
Lameness, generalised myopathy and myalgia in an adult cat with toxoplasmosis. 61
32206329 2020
Deep Learning Technique for Musculoskeletal Analysis. 61
32030670 2020
Macrophagic myofasciitis: an atypical presentation for a rare disease with a challenging approach. 61
32684650 2020
Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle. 61
33469430 2020
Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy. 61
31853262 2019
Transcriptomic Analysis Reveals Involvement of the Macrophage Migration Inhibitory Factor Gene Network in Duchenne Muscular Dystrophy. 61
31752120 2019
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice. 61
31479430 2019
[Elevated liver enzyme levels; not exclusive to liver disease]. 61
32073783 2019
Interobserver reliability of Diméglio and Pirani score and their subcomponents in the evaluation of idiopathic clubfoot in a clinical setting: a need for improved scoring systems. 61
31695815 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. 61
31601707 2019
Serum lactate dehydrogenase activity and its isoenzyme patterns in patients with pectus excavatum. 61
31737320 2019
Blockade of TRPV2 is a Novel Therapy for Cardiomyopathy in Muscular Dystrophy. 61
31394715 2019
Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy. 61
31188496 2019
[Nutritional problematic related to frailty and sarcopenia in older]. 61
31368339 2019
Expression of myxovirus-resistance protein A: a possible marker of muscle disease activity and autoantibody specificities in juvenile dermatomyositis. 61
29770465 2019
Microfluidic devices for disease modeling in muscle tissue. 61
30193908 2019
Interferon Chemokine Score and Other Cytokine Measures Track With Changes in Disease Activity in Patients With Juvenile and Adult Dermatomyositis. 61
31777784 2019
Heart Transplantation Ameliorates Ambulation Capacity in Patients With Muscular Dystrophy - An Analysis of 9 Cases. 61
30686808 2019
A nationwide survey on tracheostomy for very-low-birth-weight infants in Japan. 61
30525314 2019
Musculoskeletal Manifestations of Sarcoidosis: A Review Article. 61
29692254 2019
Muscle endurance deficits in myositis patients despite normal manual muscle testing scores. 61
30028529 2019
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. 61
30342904 2018
Comparison of Dimeglio and Pirani score in predicting number of casts and need for tenotomy in clubfoot correction using the Ponseti method. 61
29594373 2018
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
Immunophenotyping lymphocyte and acute phase proteins in canine X-linked muscular dystrophy. 61
30304229 2018
Prevalence and Risk Factors for Musculoskeletal Pain in Keyboard Musicians: A Systematic Review. 61
29705171 2018
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. 61
30191544 2018
Pathological manifestations of Farber disease in a new mouse model. 61
29908121 2018

Variations for Muscular Disease

ClinVar genetic disease variations for Muscular Disease:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC2A1 NM_006516.3(SLC2A1):c.1407G>C (p.Gln469His) SNV Uncertain significance 374095 rs201748668 GRCh37: 1:43392784-43392784
GRCh38: 1:42927113-42927113

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 10.38 MYOD1 MIR9-1 MIR199A1

GO Terms for Muscular Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.88 MIR9-1 MIR675 MIR21 MIR199A1 MIR142
2 muscle organ development GO:0007517 9.67 MYOG MYOD1 DMD
3 skeletal muscle tissue development GO:0007519 9.5 DMD MYOD1 MYOG
4 myotube differentiation GO:0014902 9.46 MYOG MYOD1
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 DMD MYOG
6 positive regulation of skeletal muscle fiber development GO:0048743 9.4 MYOD1 MYOG
7 muscle cell fate commitment GO:0042693 9.37 MYOD1 MYOG
8 myotube cell development GO:0014904 9.26 DMD MYOD1
9 negative regulation of superoxide dismutase activity GO:1901670 9.16 MIR21 MIR675
10 skeletal muscle tissue regeneration GO:0043403 9.13 DMD MYOD1 MYOG
11 skeletal muscle fiber development GO:0048741 8.8 MYOD1 MYOG RYR1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.26 MIR9-1 MIR675 MIR21 MIR142
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.02 MIR9-1 MIR675 MIR21 MIR199A1 MIR142

Sources for Muscular Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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