MCID: SKL032
MIFTS: 30

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 59 6

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 D009135
UMLS via Orphanet 73 C1533847
Orphanet 59 ORPHA98472

Summaries for Skeletal Muscle Disease

MalaCards based summary : Skeletal Muscle Disease is related to muscular dystrophy and myopathy. An important gene associated with Skeletal Muscle Disease is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways is Myometrial Relaxation and Contraction Pathways. The drugs Spironolactone and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotype is muscle.

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 43)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy 29.8 RYR1 CASQ1
2 myopathy 29.7 RYR1 CFL2
3 muscular disease 29.1 RYR1 CASQ1
4 congenital fiber-type disproportion 28.9 RYR1 CFL2
5 acquired skeletal muscle disease 12.3
6 genetic skeletal muscle disease 12.3
7 muscular dystrophy, congenital, megaconial type 10.9
8 myositis 10.0
9 scleroderma, familial progressive 10.0
10 nemaline myopathy 10.0
11 neuromuscular disease 10.0
12 cap myopathy 10.0
13 polymyositis 10.0
14 myopathy, congenital 9.9
15 muscular dystrophy, duchenne type 9.9
16 alkuraya-kucinskas syndrome 9.9
17 distal arthrogryposis 9.9
18 systemic scleroderma 9.9
19 muscular atrophy 9.9
20 myocarditis 9.9
21 congenital amyoplasia 9.9
22 malignant hyperthermia 9.8 RYR1 CASQ1
23 malignant hyperthermia susceptibility 9.7 RYR1 CASQ1
24 alcohol dependence 9.7
25 atrial standstill 1 9.7
26 cardiac arrhythmia 9.7
27 inclusion body myositis 9.7
28 hypermetabolism due to defect in mitochondria 9.7
29 myopathy, congenital, with fiber-type disproportion 9.7
30 multiple pterygium syndrome, escobar variant 9.7
31 insulin-like growth factor i 9.7
32 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.7
33 tendinitis 9.7
34 dermatomyositis 9.7
35 emery-dreifuss muscular dystrophy 9.7
36 alcohol use disorder 9.7
37 hyperinsulinism 9.7
38 acute myocarditis 9.7
39 acute myocardial infarction 9.7
40 intranuclear rod myopathy 9.7
41 laminopathy 9.7
42 myopathy, tubular aggregate, 1 9.7 RYR1 CASQ1
43 congenital structural myopathy 9.5 RYR1 CFL2

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 CASQ1 CFL2 RYR1

Drugs & Therapeutics for Skeletal Muscle Disease

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
2
Eplerenone Approved Phase 3 107724-20-9 150310 443872
3 Antihypertensive Agents Phase 3
4 Sodium Channel Blockers Phase 3
5 Hormones Phase 3
6 Diuretics, Potassium Sparing Phase 3
7 Mineralocorticoid Receptor Antagonists Phase 3
8 diuretics Phase 3
9 Natriuretic Agents Phase 3
10 Mineralocorticoids Phase 3
11 Hormone Antagonists Phase 3
12 Hormones, Hormone Substitutes, and Hormone Antagonists 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:

41
Skeletal Muscle, Heart, Testes, Liver

Publications for Skeletal Muscle Disease

Articles related to Skeletal Muscle Disease:

(show top 50) (show all 196)
# Title Authors PMID Year
1
Immunohistochemical and ultrastructural analysis of sporadic inclusion body myositis: a case series. 38
30535925 2019
2
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1. 38
31270709 2019
3
Cardiac Muscle Membrane Stabilization in Myocardial Reperfusion Injury. 38
31061929 2019
4
A graphene oxide/gold nanoparticle-based amplification method for SERS immunoassay of cardiac troponin I. 38
30666995 2019
5
Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies. 38
30148687 2019
6
Presumptive vertical transmission of Neospora caninum in related Bernese Mountain dogs. 38
31014740 2018
7
Integrative effects of dystrophin loss on metabolic function of the mdx mouse. 38
30206270 2018
8
Ryanodine receptor Ca2+ release channel post-translational modification: Central player in cardiac and skeletal muscle disease. 38
29775742 2018
9
Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member. 38
29946036 2018
10
NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers. 38
29991727 2018
11
Feasibility of peripheral nerve MR neurography using diffusion tensor imaging adapted to skeletal muscle disease. 38
28795588 2018
12
AIIMDs: An Integrated Framework of Automatic Idiopathic Inflammatory Myopathy Diagnosis for Muscle. 38
28422672 2018
13
Elevated Cardiac Troponin T in Patients With Skeletal Myopathies. 38
29622161 2018
14
Low-symptomatic skeletal muscle disease in patients with a cardiac disease - Diagnostic approach in skeletal muscle laminopathies. 38
28987496 2018
15
Inflammatory myopathy associated with anti-mitochondrial antibodies: A distinct phenotype with cardiac involvement. 38
28893408 2018
16
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice. 38
29293963 2018
17
The Multifunctional Protein BAG3: A Novel Therapeutic Target in Cardiovascular Disease. 38
29938246 2018
18
The Importance of Biophysical and Biochemical Stimuli in Dynamic Skeletal Muscle Models. 38
30246791 2018
19
"What Did Maxwell's Equations Really Have to Do With Edison's Invention?": Addressing the Complexity of Developing Clinical Interventions for Skeletal Muscle Disease. 38
29304996 2018
20
ATP Citrate Lyase Regulates Myofiber Differentiation and Increases Regeneration by Altering Histone Acetylation. 38
29241530 2017
21
Creatine kinase: how an obsolete test for skeletal muscle disease became a risk factor for hypertension. 38
29144261 2017
22
Leucine Differentially Regulates Gene-Specific Translation in Mouse Skeletal Muscle. 38
28615380 2017
23
Extraocular Muscle Repair and Regeneration. 38
29109908 2017
24
Targeted Next Generation Sequencing in patients with Myotonia Congenita. 38
28427807 2017
25
Skeletal muscle wasting: new role of nonclassical renin-angiotensin system. 38
28207424 2017
26
Myo18b is essential for sarcomere assembly in fast skeletal muscle. 38
28104788 2017
27
miR-127 enhances myogenic cell differentiation by targeting S1PR3. 38
28358363 2017
28
The challenge of frailty and sarcopenia in heart failure with preserved ejection fraction. 38
27940967 2017
29
Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy. 38
27916343 2017
30
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. 38
28017374 2017
31
Fabrication of Micromolded Gelatin Hydrogels for Long-Term Culture of Aligned Skeletal Myotubes. 38
28842908 2017
32
Characterization and isolation of highly purified porcine satellite cells. 38
28417015 2017
33
Quantitative Magnetic Resonance Imaging of Skeletal Muscle Disease. 38
28060254 2016
34
G9a inhibits MEF2C activity to control sarcomere assembly. 38
27667720 2016
35
Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne muscular dystrophy. 38
26672735 2016
36
Magnetic resonance imaging of skeletal muscle disease. 38
27430444 2016
37
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. 38
27196359 2016
38
Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. 38
26702077 2015
39
HIF modulation of Wnt signaling regulates skeletal myogenesis in vivo. 38
26153230 2015
40
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. 38
25732174 2015
41
Combinations of Kinase Inhibitors Protecting Myoblasts against Hypoxia. 38
26042811 2015
42
The Murphy Roths Large (MRL) mouse strain is naturally resistant to high fat diet-induced hyperglycemia. 38
25308446 2014
43
MicroRNAs differentially regulated in cardiac and skeletal muscle in health and disease: potential drug targets? 38
25115402 2014
44
Tissue triage and freezing for models of skeletal muscle disease. 38
25078247 2014
45
Long-term administration of the TNF blocking drug Remicade (cV1q) to mdx mice reduces skeletal and cardiac muscle fibrosis, but negatively impacts cardiac function. 38
24844454 2014
46
[Sporadic inclusion body myositis and amyloid]. 38
24998819 2014
47
[Recent progress in diagnosis and pathomechanism of inclusion body myositis]. 38
25672724 2014
48
A mathematical model of skeletal muscle disease and immune response in the mdx mouse. 38
25013809 2014
49
Mechanical and non-mechanical functions of Dystrophin can prevent cardiac abnormalities in Drosophila. 38
24231130 2014
50
Kelch proteins: emerging roles in skeletal muscle development and diseases. 38
24959344 2014

Variations for Skeletal Muscle Disease

ClinVar genetic disease variations for Skeletal Muscle Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1): c.14524G> A (p.Val4842Met) single nucleotide variant Conflicting interpretations of pathogenicity rs193922879 19:39071022-39071022 19:38580382-38580382
2 RYR1 NM_000540.2(RYR1): c.11315G> A (p.Arg3772Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922839 19:39025415-39025415 19:38534775-38534775

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
11.11 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 sarcolemma GO:0042383 9.43 RYR1 CASQ1
2 sarcoplasmic reticulum GO:0016529 9.4 RYR1 CASQ1
3 T-tubule GO:0030315 9.37 RYR1 CASQ1
4 Z disc GO:0030018 9.33 RYR1 CFL2 CASQ1
5 sarcoplasmic reticulum membrane GO:0033017 9.32 RYR1 CASQ1
6 smooth endoplasmic reticulum GO:0005790 9.26 RYR1 CASQ1
7 terminal cisterna GO:0014802 8.96 RYR1 CASQ1
8 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 9.26 RYR1 CASQ1
2 skeletal muscle tissue development GO:0007519 9.16 CFL2 CASQ1
3 sarcomere organization GO:0045214 8.96 CFL2 CASQ1
4 regulation of cardiac conduction GO:1903779 8.62 RYR1 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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