MCID: SKL032
MIFTS: 29

Skeletal Muscle Disease

Categories: Bone diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Skeletal Muscle Disease

MalaCards integrated aliases for Skeletal Muscle Disease:

Name: Skeletal Muscle Disease 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 44 D009135
UMLS via Orphanet 72 C1533847
Orphanet 58 ORPHA98472

Summaries for Skeletal Muscle Disease

MalaCards based summary : Skeletal Muscle Disease is related to congenital fiber-type disproportion and distal arthrogryposis. An important gene associated with Skeletal Muscle Disease is DAG1 (Dystroglycan 1), and among its related pathways/superpathways is Calcium signaling pathway. The drugs Eplerenone and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and heart, and related phenotypes are behavior/neurological and muscle

Wikipedia : 74 Skeletal muscle is one of three major muscle types, the others being cardiac muscle and smooth muscle.... more...

Related Diseases for Skeletal Muscle Disease

Diseases in the Skeletal Muscle Disease family:

Acquired Skeletal Muscle Disease

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 congenital fiber-type disproportion 29.6 RYR1 CFL2
2 distal arthrogryposis 29.3 RYR1 CFL2
3 myopathy 29.3 RYR1 CFL2 CASQ1
4 neuromuscular disease 29.1 RYR1 DAG1
5 muscular dystrophy 29.1 RYR1 DAG1 CASQ1
6 muscular disease 28.3 RYR1 DAG1 CFL2 CASQ1
7 acquired skeletal muscle disease 12.3
8 genetic skeletal muscle disease 12.3
9 muscular dystrophy, congenital, megaconial type 10.9
10 scleroderma, familial progressive 10.0
11 muscular dystrophy, duchenne type 10.0
12 nemaline myopathy 10.0
13 cap myopathy 10.0
14 polymyositis 10.0
15 bethlem myopathy 1 9.9 RYR1 DAG1
16 myositis 9.9
17 myopathy, congenital 9.9
18 alkuraya-kucinskas syndrome 9.9
19 systemic scleroderma 9.9
20 muscular atrophy 9.9
21 myocarditis 9.9
22 congenital amyoplasia 9.9
23 congenital structural myopathy 9.8 RYR1 CFL2
24 muscle tissue disease 9.8 RYR1 DAG1
25 alcohol dependence 9.7
26 atrial standstill 1 9.7
27 cardiac arrhythmia 9.7
28 inclusion body myositis 9.7
29 hypermetabolism due to defect in mitochondria 9.7
30 myopathy, congenital, with fiber-type disproportion 9.7
31 multiple pterygium syndrome, escobar variant 9.7
32 insulin-like growth factor i 9.7
33 myocardial infarction 9.7
34 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.7
35 tendinitis 9.7
36 dermatomyositis 9.7
37 emery-dreifuss muscular dystrophy 9.7
38 alcohol use disorder 9.7
39 acute myocarditis 9.7
40 acute myocardial infarction 9.7
41 intranuclear rod myopathy 9.7
42 laminopathy 9.7
43 muscular dystrophy, congenital, lmna-related 9.7 RYR1 DAG1
44 malignant hyperthermia 9.7 RYR1 CASQ1
45 malignant hyperthermia susceptibility 9.7 RYR1 CASQ1
46 central core myopathy 9.7 RYR1 CASQ1
47 myopathy, tubular aggregate, 1 9.7 RYR1 CASQ1
48 congenital myasthenic syndrome 9.6 RYR1 DAG1
49 catecholaminergic polymorphic ventricular tachycardia 9.6 RYR1 CASQ1

Graphical network of the top 20 diseases related to Skeletal Muscle Disease:



Diseases related to Skeletal Muscle Disease

Symptoms & Phenotypes for Skeletal Muscle Disease

MGI Mouse Phenotypes related to Skeletal Muscle Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 CASQ1 CFL2 DAG1 RYR1
2 muscle MP:0005369 8.92 CASQ1 CFL2 DAG1 RYR1

Drugs & Therapeutics for Skeletal Muscle Disease

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 3 107724-20-9 150310 443872
2
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
3 Antihypertensive Agents Phase 3
4 Sodium Channel Blockers Phase 3
5 Hormone Antagonists Phase 3
6 Mineralocorticoids Phase 3
7 Natriuretic Agents Phase 3
8 Mineralocorticoid Receptor Antagonists Phase 3
9 diuretics Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Hormones Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
2 Heart&Muscle Study Recruiting NCT03660969

Search NIH Clinical Center for Skeletal Muscle Disease

Genetic Tests for Skeletal Muscle Disease

Anatomical Context for Skeletal Muscle Disease

MalaCards organs/tissues related to Skeletal Muscle Disease:

40
Skeletal Muscle, Bone, Heart, Smooth Muscle, Testes, Liver

Publications for Skeletal Muscle Disease

Articles related to Skeletal Muscle Disease:

(show top 50) (show all 199)
# Title Authors PMID Year
1
LIM and cysteine-rich domains 1 (LMCD1) regulates skeletal muscle hypertrophy, calcium handling, and force. 61
31666122 2019
2
Drosophila emerins control LINC complex localization and transcription to regulate myonuclear position. 61
31548202 2019
3
Immunohistochemical and ultrastructural analysis of sporadic inclusion body myositis: a case series. 61
30535925 2019
4
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1. 61
31270709 2019
5
Cardiac Muscle Membrane Stabilization in Myocardial Reperfusion Injury. 61
31061929 2019
6
A graphene oxide/gold nanoparticle-based amplification method for SERS immunoassay of cardiac troponin I. 61
30666995 2019
7
Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies. 61
30148687 2019
8
Presumptive vertical transmission of Neospora caninum in related Bernese Mountain dogs. 61
31014740 2018
9
Integrative effects of dystrophin loss on metabolic function of the mdx mouse. 61
30206270 2018
10
Ryanodine receptor Ca2+ release channel post-translational modification: Central player in cardiac and skeletal muscle disease. 61
29775742 2018
11
Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member. 61
29946036 2018
12
NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers. 61
29991727 2018
13
AIIMDs: An Integrated Framework of Automatic Idiopathic Inflammatory Myopathy Diagnosis for Muscle. 61
28422672 2018
14
Feasibility of peripheral nerve MR neurography using diffusion tensor imaging adapted to skeletal muscle disease. 61
28795588 2018
15
Elevated Cardiac Troponin T in Patients With Skeletal Myopathies. 61
29622161 2018
16
Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies. 61
28987496 2018
17
Inflammatory myopathy associated with anti-mitochondrial antibodies: A distinct phenotype with cardiac involvement. 61
28893408 2018
18
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. 61
29293963 2018
19
The Multifunctional Protein BAG3: A Novel Therapeutic Target in Cardiovascular Disease. 61
29938246 2018
20
The Importance of Biophysical and Biochemical Stimuli in Dynamic Skeletal Muscle Models. 61
30246791 2018
21
"What Did Maxwell's Equations Really Have to Do With Edison's Invention?": Addressing the Complexity of Developing Clinical Interventions for Skeletal Muscle Disease. 61
29304996 2018
22
ATP Citrate Lyase Regulates Myofiber Differentiation and Increases Regeneration by Altering Histone Acetylation. 61
29241530 2017
23
Creatine kinase: how an obsolete test for skeletal muscle disease became a risk factor for hypertension. 61
29144261 2017
24
Leucine Differentially Regulates Gene-Specific Translation in Mouse Skeletal Muscle. 61
28615380 2017
25
Extraocular Muscle Repair and Regeneration. 61
29109908 2017
26
Targeted Next Generation Sequencing in patients with Myotonia Congenita. 61
28427807 2017
27
Focal myositis: a rare case report. 61
31453449 2017
28
Skeletal muscle wasting: new role of nonclassical renin-angiotensin system. 61
28207424 2017
29
miR-127 enhances myogenic cell differentiation by targeting S1PR3. 61
28358363 2017
30
Myo18b is essential for sarcomere assembly in fast skeletal muscle. 61
28104788 2017
31
The challenge of frailty and sarcopenia in heart failure with preserved ejection fraction. 61
27940967 2017
32
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy. 61
27916343 2017
33
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. 61
28017374 2017
34
Characterization and isolation of highly purified porcine satellite cells. 61
28417015 2017
35
Fabrication of Micromolded Gelatin Hydrogels for Long-Term Culture of Aligned Skeletal Myotubes. 61
28842908 2017
36
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease. 61
28060254 2016
37
G9a inhibits MEF2C activity to control sarcomere assembly. 61
27667720 2016
38
Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne muscular dystrophy. 61
26672735 2016
39
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. 61
27196359 2016
40
Magnetic resonance imaging of skeletal muscle disease. 61
27430444 2016
41
Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. 61
26702077 2015
42
HIF modulation of Wnt signaling regulates skeletal myogenesis in vivo. 61
26153230 2015
43
Cardiac troponin testing in idiopathic inflammatory myopathies and systemic sclerosis-spectrum disorders: biomarkers to distinguish between primary cardiac involvement and low-grade skeletal muscle disease activity. 61
25732174 2015
44
Combinations of Kinase Inhibitors Protecting Myoblasts against Hypoxia. 61
26042811 2015
45
The Murphy Roths Large (MRL) mouse strain is naturally resistant to high fat diet-induced hyperglycemia. 61
25308446 2014
46
MicroRNAs differentially regulated in cardiac and skeletal muscle in health and disease: potential drug targets? 61
25115402 2014
47
Long-term administration of the TNF blocking drug Remicade (cV1q) to mdx mice reduces skeletal and cardiac muscle fibrosis, but negatively impacts cardiac function. 61
24844454 2014
48
[Sporadic inclusion body myositis and amyloid]. 61
24998819 2014
49
Tissue triage and freezing for models of skeletal muscle disease. 61
25078247 2014
50
Kelch proteins: emerging roles in skeletal muscle development and diseases. 61
24959344 2014

Variations for Skeletal Muscle Disease

Expression for Skeletal Muscle Disease

Search GEO for disease gene expression data for Skeletal Muscle Disease.

Pathways for Skeletal Muscle Disease

Pathways related to Skeletal Muscle Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.92 RYR1 CASQ1

GO Terms for Skeletal Muscle Disease

Cellular components related to Skeletal Muscle Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.62 RYR1 DAG1 CFL2 CASQ1
2 sarcoplasmic reticulum GO:0016529 9.46 RYR1 CASQ1
3 T-tubule GO:0030315 9.43 RYR1 CASQ1
4 Z disc GO:0030018 9.43 RYR1 CFL2 CASQ1
5 sarcoplasmic reticulum membrane GO:0033017 9.4 RYR1 CASQ1
6 smooth endoplasmic reticulum GO:0005790 9.37 RYR1 CASQ1
7 sarcolemma GO:0042383 9.33 RYR1 DAG1 CASQ1
8 terminal cisterna GO:0014802 8.96 RYR1 CASQ1
9 I band GO:0031674 8.8 RYR1 CFL2 CASQ1

Biological processes related to Skeletal Muscle Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.32 RYR1 CASQ1
2 regulation of cardiac conduction GO:1903779 9.26 RYR1 CASQ1
3 skeletal muscle tissue development GO:0007519 9.16 CFL2 CASQ1
4 sarcomere organization GO:0045214 8.96 CFL2 CASQ1
5 response to denervation involved in regulation of muscle adaptation GO:0014894 8.62 DAG1 CASQ1

Molecular functions related to Skeletal Muscle Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 8.8 RYR1 DAG1 CASQ1

Sources for Skeletal Muscle 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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