MCID: MSC033
MIFTS: 48

Muscle Disorders malady

Genetic diseases (common), Neuronal diseases categories

Summaries for Muscle Disorders

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MedlinePlus:34 Your muscles help you move and help your body work. different types of muscles have different jobs. there are many problems that can affect muscles. muscle disorders can cause weakness, pain or even paralysis. causes of muscle disorders include injury or overuse, such as sprains or strains, cramps or tendinitis a genetic disorder, such as muscular dystrophy some cancers inflammation, such as myositis diseases of nerves that affect muscles infections certain medicines sometimes the cause is not known.

MalaCards based summary: Muscle Disorders is related to glycogen storage disease and nemaline myopathy. An important gene associated with Muscle Disorders is CLCN1 (chloride channel, voltage-sensitive 1), and among its related pathways are Netrin Signaling and Collagen biosynthesis and modifying enzymes. The compounds niflumic acid and 4-chloro-m-cresol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, smooth muscle and brain, and related mouse phenotypes are no phenotypic analysis and muscle.

Aliases & Classifications for Muscle Disorders

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Related Diseases for Muscle Disorders

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Diseases in the Muscle Disorders family:

Ano5-Related Muscle Diseases Pomgnt1-Related Muscle Diseases
Fkrp-Related Muscle Diseases Large-Related Muscle Diseases
Pomt1-Related Muscle Diseases Pomt2-Related Muscle Diseases
Fktn-Related Muscle Diseases Lmna-Related Muscle Diseases
Chkb-Related Muscle Diseases Ispd-Related Muscle Diseases
Dag1-Related Muscle Diseases

Diseases related to Muscle Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease29.8GAA
2nemaline myopathy29.8RYR1, TPM3
3myopathy congenital29.7GAA, RYR1
4muscular dystrophy29.7COL6A3, COL6A1
5central core disease29.7GAA, RYR2, RYR1
6dermatomyositis29.7GAA, CHKA
7myositis29.7CHKA, MAPT, RYR1
8myopathy29.6RYR1, CLCN1, CHKA, COL6A1, COL6A3, COL6A2
9rippling muscle disease10.1CAV3
10lambert-eaton myasthenic syndrome10.1
11central core myopathy10.0RYR2
12catecholaminergic polymorphic ventricular tachycardia10.0RYR2
13neuroleptic malignant syndrome10.0CHKA
14myopathy, congenital, with fiber-type disproportion10.0RYR1, TPM3
15hypokalemic periodic paralysis, type 110.0CLCN1, RYR1
16limb-girdle muscular dystrophy10.0GAA, CAV3
17hypertrophic cardiomyopathy10.0GAA, TPM3
18long qt syndrome10.0RYR2, CAV3
19arrhythmogenic right ventricular cardiomyopathy10.0RYR1, RYR2
20malignant hyperthermia10.0RYR2, RYR1
21sudden cardiac death multi-gene panels10.0RYR1, RYR2
22respiratory failure10.0RYR1, GAA
23neuromuscular disease10.0RYR1, GAA, CAV3
24neuropathy10.0COL6A2, CAV3, RYR1
25duchenne muscular dystrophy10.0CAV3, GAA
26collagen type vi-related disorders10.0COL6A2, COL6A3, COL6A1
27bethlem myopathy10.0COL6A1, COL6A3, COL6A2
28ullrich congenital muscular dystrophy10.0COL6A1, COL6A3, COL6A2
29congenital heart disease10.0RYR2, COL6A1
30polymyositis10.0GAA, CHKA
31distal muscular dystrophy10.0MAPT, CAV3, GAA
32noonan syndrome 110.0CAV3, GAA, RYR2, RYR1
33motor neuron disease10.0MAPT, GAA, RYR1
34myotonic dystrophy10.0CLCN1, MAPT, GAA, RYR1
35miyoshi muscular dystrophy 110.0
36multifocal motor neuropathy10.0
37down syndrome10.0MAPT, COL6A2, COL6A3, COL6A1
38alzheimer disease9.9CHKA, MAPT, CAV3, RYR1
39thyrotoxic periodic paralysis 19.8
40muscular dystrophy, limb-girdle, type 2b9.8
41nemaline myopathy 99.8
42neutral lipid storage disease with myopathy9.8
43stormorken syndrome9.8
44muscular dystrophy, limb-girdle, type 2c9.8
45oculopharyngeal muscular dystrophy9.8
46mucolipidosis iv9.8
47nemaline myopathy 8, autosomal recessive9.8
48myotonia congenita, recessive9.8
49myotonia congenita, dominant9.8
50laing distal myopathy9.8

Graphical network of the top 20 diseases related to Muscle Disorders:



Diseases related to muscle disorders

Symptoms for Muscle Disorders

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Drugs & Therapeutics for Muscle Disorders

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Drug clinical trials:

Search ClinicalTrials for Muscle Disorders

Search NIH Clinical Center for Muscle Disorders

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Muscle Disorders cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Muscle Disorders:
PLX, placental-derived mesenchymal-like stromal cells for muscle disorders
Embryonic/Adult Cultured Cells Related to Muscle Disorders:
Placenta-derived adherent stromal cell (PLX), PMIDs: 18154467, 19478280

Genetic Tests for Muscle Disorders

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Anatomical Context for Muscle Disorders

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MalaCards organs/tissues related to Muscle Disorders:

33
Skeletal muscle, Smooth muscle, Brain, Heart

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Muscle Disorders:
id TissueAnatomical CompartmentCell Relevance
1 PlacentaChorionic VillusChorionic Mesenchymal Stromal Cells Potential therapeutic candidate

Animal Models for Muscle Disorders or affiliated genes

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MGI Mouse Phenotypes related to Muscle Disorders:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5RYR2, MAPT, COL6A1, CLCN1, TPM3
2MP:00053696.7RYR1, TPM3, CLCN1, COL6A1, COL6A3, MAPT

Publications for Muscle Disorders

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Articles related to Muscle Disorders:

(show all 38)
idTitleAuthorsYear
1
Congenital muscular dystrophies: New evidence-based guidelines for the diagnosis and management of this evolving group of muscle disorders. (25900129)
2015
2
Regulating PPARI' Signaling as a Potential Therapeutic Strategy for Skeletal Muscle Disorders in Heart Failure. (25770240)
2015
3
203rd ENMC international workshop: Respiratory pathophysiology in congenital muscle disorders: Implications for pro-active care and clinical research 13-15 December, 2013, Naarden, The Netherlands. (25613806)
2015
4
Incidence of skeletal muscle disorders after statins' treatment: consequences in clinical and EMG picture. (24878976)
2014
5
K(V)7 potassium channels: a new therapeutic target in smooth muscle disorders. (24333708)
2014
6
The Genetics of Skeletal Muscle Disorders in Horses. (25387114)
2014
7
Issues & Opinions - The potential of psychological interventions to improve quality of life and mood in muscle disorders. (25297932)
2014
8
Human skeletal muscle xenograft as a new preclinical model for muscle disorders. (24452336)
2014
9
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. (24336167)
2014
10
Reining in nuclear factor-kappaB in skeletal muscle disorders. (23493016)
2013
11
Nemaline myopathy in a newborn infant: a rare muscle disorder. (24166571)
2013
12
Creatine for treating muscle disorders. (23740606)
2013
13
Muscle disorders: the latest investigations. (24004391)
2013
14
Quetiapine and cardiac muscle disorders. (23951594)
2013
15
One man's side effect is another man's therapeutic opportunity: targeting Kv7 channels in smooth muscle disorders. (22880633)
2013
16
Proteomic identification of biomarkers of skeletal muscle disorders. (23387498)
2013
17
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases. (22065858)
2012
18
Masticatory muscle disorders diagnostic criteria: the American Academy of Orofacial Pain versus the research diagnostic criteria/temporomandibular disorders (RDC/TMD). (22882635)
2012
19
Stem cell therapies for muscle disorders. (22918488)
2012
20
Growing muscle has different sarcolemmal properties from adult muscle: a proposal with scientific and clinical implications: reasons to reassess skeletal muscle molecular dynamics, cellular responses and suitability of experimental models of muscle disorders. (21500235)
2011
21
Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician. (21542919)
2011
22
Creatine for treating muscle disorders. (21328269)
2011
23
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. (21496630)
2011
24
Eosinophilia-associated muscle disorders: an immunohistological study with tissue localisation of major basic protein in distinct clinicopathological forms. (19139036)
2009
25
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. (18313359)
2008
26
A psychological study on patients with masticatory muscle disorder and sleep bruxism. (16933460)
2006
27
Collagen VI related muscle disorders. (16141002)
2005
28
Comparison of reports from patients and health professionals: statins and muscle disorders]. (16128275)
2005
29
Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. (16075044)
2005
30
Severe muscle disorders associated with statins: analysis of cases notified in France up to the end of February 2002 and data concerning the risk profile of cerivastatin]. (16128274)
2005
31
A close look at autoimmune muscle disorders: association of Lambert-Eaton myasthenic syndrome with dermatomyositis. (15370725)
2004
32
Skeletal muscle disorders associated with selenium deficiency in humans. (12766976)
2003
33
Metabolic and drug-induced muscle disorders. (12351996)
2002
34
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. (10430861)
1999
35
Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. (9196905)
1997
36
Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders. (7518193)
1994
37
Respiratory involvement in primary muscle disorders: assessment and management. (8483991)
1993
38
A muscle disorder as presenting symptom in a child with mucolipidosis IV. (6877526)
1983

Variations for Muscle Disorders

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Expression for genes affiliated with Muscle Disorders

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Search GEO for disease gene expression data for Muscle Disorders.

Pathways for genes affiliated with Muscle Disorders

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Pathways related to Muscle Disorders according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4RYR1, RYR2
2
Show member pathways
9.4COL6A2, COL6A3, COL6A1
3
Show member pathways
9.4COL6A2, COL6A3, COL6A1
49.4COL6A2, COL6A3, COL6A1
5
Show member pathways
9.4COL6A2, COL6A3, COL6A1
69.4COL6A1, COL6A3, COL6A2
7
Show member pathways
9.2CLCN1, RYR2, RYR1
8
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1CAV3, COL6A2, COL6A3, COL6A1
9
Show member pathways
8.9MAPT, RYR2, RYR1
10
Show member pathways
8.5COL6A2, COL6A3, COL6A1, PRG2
11
Show member pathways
8.5COL6A2, COL6A3, COL6A1, PRG2

Compounds for genes affiliated with Muscle Disorders

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Sources:
45Novoseek, 30IUPHAR, 13DrugBank, 51PharmGKB, 26HMDB
See all sources

Compounds related to Muscle Disorders according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1niflumic acid45 30 1312.1RYR1, CLCN1
24-chloro-m-cresol459.8RYR1, RYR2
3cyclic adp-ribose459.8RYR1, RYR2
4procaine45 30 1311.8RYR2, RYR1
5dantrolene30 45 1311.8RYR2, RYR1
6ruthenium red309.8RYR2, RYR1
7mg2+309.7RYR1, RYR2
8ruthenium459.7RYR1, RYR2
9carvedilol45 51 30 1312.6RYR1, RYR2
10maltose45 1310.5GAA, PRG2
11ca2+309.5RYR2, RYR1
12sucrose45 26 1311.5GAA, CAV3, CHKA
13estramustine phosphate459.5MAPT, PRG2
14estramustine45 1310.4PRG2, MAPT
15chloride459.4CLCN1, RYR2, RYR1
16lactate459.1ENO3, GAA, MAPT, CHKA
17doxorubicin45 51 1311.0RYR1, MAPT, CHKA
18isoproterenol45 1310.0MAPT, CAV3, RYR2, RYR1
19glycogen45 269.9CHKA, MAPT, CAV3, GAA, ENO3
20glucose458.7CHKA, MAPT, CAV3, GAA, RYR1
21acetylcholine45 51 30 26 1312.6CHKA, PRG2, MAPT, RYR1
22magnesium45 26 1310.5PRG2, ENO3, RYR2, RYR1
23creatinine458.5RYR1, ENO3, GAA, CAV3, MAPT, CHKA
24arginine458.4RYR1, GAA, MAPT, PRG2
25nitric oxide45 26 1310.2PRG2, CAV3, RYR2, RYR1
26glutamate458.1RYR1, RYR2, MAPT, CHKA
27cysteine457.9CHKA, PRG2, COL6A1, COL6A2, MAPT, RYR1
28lipid457.8CHKA, PRG2, CAV3, GAA, RYR2, RYR1
29calcium45 51 26 1310.7TPM3, CHKA, PRG2, CAV3, RYR2, RYR1

GO Terms for genes affiliated with Muscle Disorders

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Cellular components related to Muscle Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:00055899.9COL6A1, COL6A3
2T-tubuleGO:00303159.8RYR1, CAV3
3junctional sarcoplasmic reticulum membraneGO:00147019.6RYR1, RYR2
4extracellular matrixGO:00310129.5COL6A1, COL6A3, COL6A2
5sarcoplasmic reticulum membraneGO:00330179.4RYR2, RYR1
6endoplasmic reticulum lumenGO:00057889.4COL6A2, COL6A3, COL6A1
7sarcoplasmic reticulumGO:00165299.3RYR2, RYR1
8sarcolemmaGO:00423839.0CAV3, COL6A2, COL6A3, COL6A1, CLCN1
9protein complexGO:00432348.9RYR2, COL6A2, COL6A1
10extracellular vesicular exosomeGO:00700628.5TPM3, COL6A1, COL6A3, COL6A2, GAA, RYR1

Biological processes related to Muscle Disorders according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:007020810.0COL6A2, COL6A1
2muscle cell cellular homeostasisGO:004671610.0GAA, CAV3
3positive regulation of microtubule polymerizationGO:00311169.9CAV3, MAPT
4muscle contractionGO:00069369.8TPM3, CLCN1, RYR1
5regulation of cardiac muscle contractionGO:00551179.8CAV3, RYR2
6release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.8RYR1, RYR2
7cellular response to caffeineGO:00713139.8RYR2, RYR1
8ventricular cardiac muscle cell action potentialGO:00860059.7RYR2, CAV3
9response to caffeineGO:00310009.7RYR1, RYR2
10collagen catabolic processGO:00305749.7COL6A2, COL6A3, COL6A1
11muscle organ developmentGO:00075179.7GAA, CAV3, COL6A3
12extracellular matrix disassemblyGO:00226179.6COL6A1, COL6A3, COL6A2
13cytosolic calcium ion homeostasisGO:00514809.6RYR2, RYR1
14regulation of heart rateGO:00020279.6RYR2, CAV3
15release of sequestered calcium ion into cytosolGO:00512099.5RYR2, RYR1
16cardiac muscle contractionGO:00600489.4RYR2, GAA
17axon guidanceGO:00074119.4COL6A2, COL6A3, COL6A1
18ion transmembrane transportGO:00342209.3RYR1, RYR2, CLCN1
19extracellular matrix organizationGO:00301989.1COL6A1, COL6A3, COL6A2

Molecular functions related to Muscle Disorders according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:00052629.4RYR1, RYR2
2ryanodine-sensitive calcium-release channel activityGO:00052199.3RYR1, RYR2
3calcium-release channel activityGO:00152789.1RYR1, RYR2

Products for genes affiliated with Muscle Disorders

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Sources for Muscle Disorders

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet