MCID: MSC033
MIFTS: 49

Muscle Disorders malady

Genetic diseases (common), Neuronal diseases categories
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Summaries for Muscle Disorders

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MedlinePlus:33 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 central core myopathy and myopathy congenital. 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 heart, skeletal muscle and smooth muscle, and related mouse phenotypes are no phenotypic analysis and muscle.

Wikipedia:65 Muscle is a soft tissue found in most animals. Muscle cells contain protein filaments of actin and... more...

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 61)
idRelated DiseaseScoreTop Affiliating Genes
1central core myopathy30.3RYR2
2myopathy congenital30.3GAA, RYR1
3glycogen storage disease30.2GAA
4congenital fiber-type disproportion30.2RYR1, TPM3
5nemaline myopathy30.2RYR1, TPM3
6hypokalemic periodic paralysis30.2CLCN1, RYR1
7dermatomyositis29.6CHKA, GAA
8myositis29.4RYR1, MAPT, CHKA
9myopathy28.6RYR1, CLCN1, CHKA, COL6A1, COL6A3, COL6A2
10rippling muscle disease10.5CAV3
11catecholaminergic polymorphic ventricular tachycardia10.4RYR2
12neuroleptic malignant syndrome10.3CHKA
13limb-girdle muscular dystrophy10.3GAA, CAV3
14hypertrophic cardiomyopathy10.2GAA, TPM3
15long qt syndrome10.2CAV3, RYR2
16muscular dystrophy10.2COL6A3, COL6A1
17arrhythmogenic right ventricular cardiomyopathy10.2RYR1, RYR2
18malignant hyperthermia10.2RYR2, RYR1
19sudden cardiac death multi-gene panels10.1RYR1, RYR2
20respiratory failure10.1GAA, RYR1
21neuromuscular disease10.1CAV3, RYR1, GAA
22neuropathy10.1RYR1, CAV3, COL6A2
23duchenne muscular dystrophy10.1CAV3, GAA
24collagen type vi-related disorders10.1COL6A1, COL6A2, COL6A3
25bethlem myopathy10.1COL6A3, COL6A1, COL6A2
26ullrich congenital muscular dystrophy10.1COL6A1, COL6A3, COL6A2
27congenital heart disease10.1COL6A1, RYR2
28lambert-eaton myasthenic syndrome10.1
29polymyositis10.0CHKA, GAA
30distal muscular dystrophy10.0GAA, MAPT, CAV3
31multifocal motor neuropathy10.0
32noonan syndrome9.9RYR2, RYR1, CAV3, GAA
33motor neuron disease9.9GAA, MAPT, RYR1
34hepatitis9.8
35limb-girdle muscular dystrophy, type 2b9.8
36bruxism9.8
37oculopharyngeal muscular dystrophy9.8
38mucolipidosis9.8
39skeletal muscle regeneration9.8
40caveolinopathies9.8
41laing distal myopathy9.8
42mucolipidosis iv9.8
43limb-girdle muscular dystrophy, type 2c9.8
44malignant hyperthermia susceptibility type 19.8
45miyoshi myopathy9.8
46neutral lipid storage disease with myopathy9.8
47normokalemic periodic paralysis9.8
48stormorken syndrome9.8
49foot drop9.8
50erythrocyte lactate transporter defect9.8

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:

32
Heart, Skeletal muscle, Smooth muscle, Brain

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:

36
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 36)
idTitleAuthorsYear
1
Incidence of skeletal muscle disorders after statins' treatment: consequences in clinical and EMG picture. (24878976)
2014
2
K(V)7 potassium channels: a new therapeutic target in smooth muscle disorders. (24333708)
2014
3
The Genetics of Skeletal Muscle Disorders in Horses. (25387114)
2014
4
Issues & Opinions - The potential of psychological interventions to improve quality of life and mood in muscle disorders. (25297932)
2014
5
Human skeletal muscle xenograft as a new preclinical model for muscle disorders. (24452336)
2014
6
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. (24336167)
2014
7
Reining in nuclear factor-kappaB in skeletal muscle disorders. (23493016)
2013
8
Nemaline myopathy in a newborn infant: a rare muscle disorder. (24166571)
2013
9
Creatine for treating muscle disorders. (23740606)
2013
10
Muscle disorders: the latest investigations. (24004391)
2013
11
Quetiapine and cardiac muscle disorders. (23951594)
2013
12
One man's side effect is another man's therapeutic opportunity: targeting Kv7 channels in smooth muscle disorders. (22880633)
2013
13
Proteomic identification of biomarkers of skeletal muscle disorders. (23387498)
2013
14
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
15
Masticatory muscle disorders diagnostic criteria: the American Academy of Orofacial Pain versus the research diagnostic criteria/temporomandibular disorders (RDC/TMD). (22882635)
2012
16
Stem cell therapies for muscle disorders. (22918488)
2012
17
Genetic variability of transcript abundance in pig peri-mortem skeletal muscle: eQTL localized genes involved in stress response, cell death, muscle disorders and metabolism. (22053791)
2011
18
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
19
Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician. (21542919)
2011
20
Creatine for treating muscle disorders. (21328269)
2011
21
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. (21496630)
2011
22
An internet-based system for home monitoring of respiratory muscle disorders. (21096291)
2010
23
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. (18313359)
2008
24
A psychological study on patients with masticatory muscle disorder and sleep bruxism. (16933460)
2006
25
Collagen VI related muscle disorders. (16141002)
2005
26
Comparison of reports from patients and health professionals: statins and muscle disorders]. (16128275)
2005
27
Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. (16075044)
2005
28
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
29
A close look at autoimmune muscle disorders: association of Lambert-Eaton myasthenic syndrome with dermatomyositis. (15370725)
2004
30
Skeletal muscle disorders associated with selenium deficiency in humans. (12766976)
2003
31
Metabolic and drug-induced muscle disorders. (12351996)
2002
32
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
33
Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. (9196905)
1997
34
Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders. (7518193)
1994
35
Respiratory involvement in primary muscle disorders: assessment and management. (8483991)
1993
36
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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Expression patterns in normal tissues for genes affiliated with Muscle Disorders

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
19.4RYR2, RYR1
2
Show member pathways
9.4COL6A1, COL6A3, COL6A2
3
Show member pathways
9.4COL6A3, COL6A1, COL6A2
49.4COL6A1, COL6A3, COL6A2
5
Show member pathways
9.4COL6A1, COL6A3, COL6A2
69.4COL6A1, COL6A2, COL6A3
7
Show member pathways
9.2CLCN1, RYR2, RYR1
8
Show member pathways
Integrin-mediated cell adhesion37
Focal Adhesion37
9.1COL6A2, CAV3, COL6A3, COL6A1
9
Show member pathways
8.9RYR2, MAPT, RYR1
10
Show member pathways
8.5COL6A3, COL6A2, COL6A1, PRG2
11
Show member pathways
8.5COL6A1, PRG2, COL6A2, COL6A3

Compounds for genes affiliated with Muscle Disorders

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB
See all sources

Compounds related to Muscle Disorders according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1niflumic acid44 28 1112.1RYR1, CLCN1
24-chloro-m-cresol449.8RYR1, RYR2
3cyclic adp-ribose449.8RYR1, RYR2
4procaine44 28 1111.8RYR2, RYR1
5dantrolene28 44 1111.8RYR2, RYR1
6ruthenium red289.8RYR2, RYR1
7mg2+289.7RYR1, RYR2
8ruthenium449.7RYR1, RYR2
9carvedilol44 50 28 1112.6RYR1, RYR2
10maltose44 1110.5GAA, PRG2
11ca2+289.5RYR2, RYR1
12sucrose44 24 1111.5GAA, CAV3, CHKA
13estramustine phosphate449.5MAPT, PRG2
14estramustine44 1110.4PRG2, MAPT
15chloride449.4CLCN1, RYR2, RYR1
16lactate449.1ENO3, GAA, MAPT, CHKA
17doxorubicin44 50 1111.0RYR1, MAPT, CHKA
18isoproterenol44 1110.0MAPT, CAV3, RYR2, RYR1
19glycogen44 249.9CHKA, MAPT, CAV3, GAA, ENO3
20glucose448.7CHKA, MAPT, CAV3, GAA, RYR1
21acetylcholine44 50 28 24 1112.6CHKA, PRG2, MAPT, RYR1
22magnesium44 24 1110.5PRG2, ENO3, RYR2, RYR1
23creatinine448.5RYR1, ENO3, GAA, CAV3, MAPT, CHKA
24arginine448.4RYR1, GAA, MAPT, PRG2
25nitric oxide44 24 1110.2PRG2, CAV3, RYR2, RYR1
26glutamate448.1RYR1, RYR2, MAPT, CHKA
27cysteine447.9CHKA, PRG2, COL6A1, COL6A2, MAPT, RYR1
28lipid447.8CHKA, PRG2, CAV3, GAA, RYR2, RYR1
29calcium44 50 24 1110.7TPM3, 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:0055899.9COL6A3, COL6A1
2T-tubuleGO:0303159.8RYR1, CAV3
3junctional sarcoplasmic reticulum membraneGO:0147019.6RYR1, RYR2
4extracellular matrixGO:0310129.5COL6A1, COL6A3, COL6A2
5sarcoplasmic reticulum membraneGO:0330179.4RYR2, RYR1
6endoplasmic reticulum lumenGO:0057889.4COL6A2, COL6A3, COL6A1
7sarcoplasmic reticulumGO:0165299.3RYR1, RYR2
8sarcolemmaGO:0423839.0CAV3, COL6A2, COL6A3, COL6A1, CLCN1
9protein complexGO:0432348.9COL6A2, COL6A1, RYR2
10extracellular vesicular exosomeGO:0700628.5RYR1, GAA, COL6A2, COL6A3, COL6A1, TPM3

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:07020810.1COL6A1, COL6A2
2muscle cell cellular homeostasisGO:04671610.0CAV3, GAA
3positive regulation of microtubule polymerizationGO:0311169.9MAPT, CAV3
4muscle contractionGO:0069369.8TPM3, CLCN1, RYR1
5regulation of cardiac muscle contractionGO:0551179.8CAV3, RYR2
6release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148089.8RYR2, RYR1
7cellular response to caffeineGO:0713139.8RYR2, RYR1
8ventricular cardiac muscle cell action potentialGO:0860059.7CAV3, RYR2
9response to caffeineGO:0310009.7RYR2, RYR1
10collagen catabolic processGO:0305749.7COL6A2, COL6A1, COL6A3
11muscle organ developmentGO:0075179.7CAV3, GAA, COL6A3
12extracellular matrix disassemblyGO:0226179.6COL6A1, COL6A3, COL6A2
13cytosolic calcium ion homeostasisGO:0514809.6RYR1, RYR2
14regulation of heart rateGO:0020279.6RYR2, CAV3
15release of sequestered calcium ion into cytosolGO:0512099.5RYR1, RYR2
16cardiac muscle contractionGO:0600489.4GAA, RYR2
17axon guidanceGO:0074119.4COL6A2, COL6A1, COL6A3
18ion transmembrane transportGO:0342209.3CLCN1, RYR1, RYR2
19extracellular matrix organizationGO:0301989.1COL6A1, COL6A3, COL6A2

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

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:0052629.4RYR1, RYR2
2ryanodine-sensitive calcium-release channel activityGO:0052199.3RYR1, RYR2
3calcium-release channel activityGO:0152789.1RYR1, RYR2

Products for genes affiliated with Muscle Disorders

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscle Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet