MCID: MSC033
MIFTS: 43

Muscle Disorders malady

Genetic diseases (common), Neuronal diseases categories

Aliases & Classifications for Muscle Disorders

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Summaries for Muscle Disorders

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MedlinePlus:32 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, also known as myopathy, 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.

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 Suite gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease30.2GAA
2nemaline myopathy30.1RYR1, TPM3
3myopathy congenital30.0GAA, RYR1
4muscular dystrophy30.0COL6A3, COL6A1
5central core disease29.8RYR1, GAA, RYR2
6dermatomyositis29.5CHKA, GAA
7myositis29.4RYR1, MAPT, CHKA
8myopathy28.5RYR1, CLCN1, CHKA, COL6A1, COL6A3, COL6A2
9rippling muscle disease10.5CAV3
10central core myopathy10.4RYR2
11catecholaminergic polymorphic ventricular tachycardia10.4RYR2
12neuroleptic malignant syndrome10.3CHKA
13myopathy, congenital, with fiber-type disproportion10.3RYR1, TPM3
14hypokalemic periodic paralysis, type 110.3CLCN1, RYR1
15limb-girdle muscular dystrophy10.3GAA, CAV3
16hypertrophic cardiomyopathy10.2GAA, TPM3
17long qt syndrome10.2CAV3, RYR2
18arrhythmogenic right ventricular cardiomyopathy10.2RYR1, RYR2
19malignant hyperthermia10.1RYR2, RYR1
20sudden cardiac death multi-gene panels10.1RYR1, RYR2
21respiratory failure10.1GAA, RYR1
22neuromuscular disease10.1CAV3, RYR1, GAA
23neuropathy10.1RYR1, CAV3, COL6A2
24duchenne muscular dystrophy10.1CAV3, GAA
25collagen type vi-related disorders10.1COL6A1, COL6A2, COL6A3
26bethlem myopathy10.1COL6A3, COL6A1, COL6A2
27ullrich congenital muscular dystrophy10.1COL6A1, COL6A3, COL6A2
28congenital heart disease10.1COL6A1, RYR2
29lambert-eaton myasthenic syndrome10.0
30polymyositis10.0CHKA, GAA
31distal muscular dystrophy10.0GAA, MAPT, CAV3
32miyoshi muscular dystrophy 110.0
33multifocal motor neuropathy10.0
34noonan syndrome 19.9RYR2, RYR1, CAV3, GAA
35motor neuron disease9.9GAA, MAPT, RYR1
36thyrotoxic periodic paralysis 19.8
37muscular dystrophy, limb-girdle, type 2b9.8
38nemaline myopathy 99.8
39neutral lipid storage disease with myopathy9.8
40stormorken syndrome9.8
41muscular dystrophy, limb-girdle, type 2c9.8
42oculopharyngeal muscular dystrophy9.8
43mucolipidosis iv9.8
44nemaline myopathy 8, autosomal recessive9.8
45myotonia congenita, recessive9.8
46myotonia congenita, dominant9.8
47laing distal myopathy9.8
48nemaline myopathy 6, autosomal dominant9.8
49malignant hyperthermia susceptibility 19.8
50hepatitis9.8

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
Data from LifeMap, the Embryonic Development and Stem Cells Database
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:

31
Skeletal muscle, Smooth muscle, Brain, Heart

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

35
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 Suite gene sharing:

(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 adhesion36
Focal Adhesion36
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:
43Novoseek, 28IUPHAR, 12DrugBank, 49PharmGKB, 24HMDB
See all sources

Compounds related to Muscle Disorders according to GeneCards Suite gene sharing:

(show all 29)
idCompoundScoreTop Affiliating Genes
1niflumic acid43 28 1212.1RYR1, CLCN1
24-chloro-m-cresol439.8RYR1, RYR2
3cyclic adp-ribose439.8RYR1, RYR2
4procaine43 28 1211.8RYR2, RYR1
5dantrolene28 43 1211.8RYR2, RYR1
6ruthenium red289.8RYR2, RYR1
7mg2+289.7RYR1, RYR2
8ruthenium439.7RYR1, RYR2
9carvedilol43 49 28 1212.6RYR1, RYR2
10maltose43 1210.5GAA, PRG2
11ca2+289.5RYR2, RYR1
12sucrose43 24 1211.5GAA, CAV3, CHKA
13estramustine phosphate439.5MAPT, PRG2
14estramustine43 1210.4PRG2, MAPT
15chloride439.4CLCN1, RYR2, RYR1
16lactate439.1ENO3, GAA, MAPT, CHKA
17doxorubicin43 49 1211.0RYR1, MAPT, CHKA
18isoproterenol43 1210.0MAPT, CAV3, RYR2, RYR1
19glycogen43 249.9CHKA, MAPT, CAV3, GAA, ENO3
20glucose438.7CHKA, MAPT, CAV3, GAA, RYR1
21acetylcholine43 49 28 24 1212.6CHKA, PRG2, MAPT, RYR1
22magnesium43 24 1210.5PRG2, ENO3, RYR2, RYR1
23creatinine438.5RYR1, ENO3, GAA, CAV3, MAPT, CHKA
24arginine438.4RYR1, GAA, MAPT, PRG2
25nitric oxide43 24 1210.2PRG2, CAV3, RYR2, RYR1
26glutamate438.1RYR1, RYR2, MAPT, CHKA
27cysteine437.9CHKA, PRG2, COL6A1, COL6A2, MAPT, RYR1
28lipid437.8CHKA, PRG2, CAV3, GAA, RYR2, RYR1
29calcium43 49 24 1210.7TPM3, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type VIGO:00055899.9COL6A3, COL6A1
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:00165299.3RYR1, RYR2
8sarcolemmaGO:00423839.0CAV3, COL6A2, COL6A3, COL6A1, CLCN1
9protein complexGO:00432348.9COL6A2, COL6A1, RYR2
10extracellular vesicular exosomeGO:00700628.5RYR1, GAA, COL6A2, COL6A3, COL6A1, TPM3

Biological processes related to Muscle Disorders according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1protein heterotrimerizationGO:007020810.1COL6A1, COL6A2
2muscle cell cellular homeostasisGO:004671610.0CAV3, GAA
3positive regulation of microtubule polymerizationGO:00311169.9MAPT, CAV3
4muscle contractionGO:00069369.8TPM3, CLCN1, RYR1
5regulation of cardiac muscle contractionGO:00551179.8CAV3, RYR2
6release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.8RYR2, RYR1
7cellular response to caffeineGO:00713139.8RYR2, RYR1
8ventricular cardiac muscle cell action potentialGO:00860059.7CAV3, RYR2
9response to caffeineGO:00310009.7RYR2, RYR1
10collagen catabolic processGO:00305749.7COL6A2, COL6A1, COL6A3
11muscle organ developmentGO:00075179.7CAV3, GAA, COL6A3
12extracellular matrix disassemblyGO:00226179.6COL6A1, COL6A3, COL6A2
13cytosolic calcium ion homeostasisGO:00514809.6RYR1, RYR2
14regulation of heart rateGO:00020279.6RYR2, CAV3
15release of sequestered calcium ion into cytosolGO:00512099.5RYR1, RYR2
16cardiac muscle contractionGO:00600489.4GAA, RYR2
17axon guidanceGO:00074119.4COL6A2, COL6A1, COL6A3
18ion transmembrane transportGO:00342209.3CLCN1, RYR1, RYR2
19extracellular matrix organizationGO:00301989.1COL6A1, COL6A3, COL6A2

Molecular functions related to Muscle Disorders according to GeneCards Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet