MCID: MYP004
MIFTS: 62

Myopathy malady

Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases categories

Summaries for Myopathy

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9Disease Ontology, 45NINDS, 66Wikipedia, 34MalaCards
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NINDS:45 The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows:: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth: characterized by progressive weakness in voluntary muscles; sometimes evident at birth: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases: an inflammatory myopathy of skin and muscle: characterized by bone growing in muscle tissue: characterized by episodes of weakness in the arms and legs: inflammatory myopathies of skeletal muscle: characterized by alternating episodes of twitching and stiffness; and

MalaCards: Myopathy is related to nemaline myopathy and centronuclear myopathy. An important gene associated with Myopathy is ACTA1 (actin, alpha 1, skeletal muscle), and among its related pathways are EphrinA-EphR Signaling and RhoGDI Pathway. The compounds (r)-(+)-blebbistatin and bts have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and skin, and related mouse phenotypes are skeleton and growth/size/body.

Disease Ontology:9 A muscular disease in which the muscle fibers do not function resulting in muscular weakness.

Wikipedia:66 In medicine, a myopathy is a muscular disease in which the muscle fibers do not function for any one of... more...

Aliases & Classifications for Myopathy

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Sources:
9Disease Ontology, 23GTR, 45NINDS, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH, 28ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases, Neuronal diseases


Aliases & Descriptions:

myopathy 9 23 45 11 46 63


Related Diseases for Myopathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Myopathy Congenital family:

myopathy Gne-Related Myopathy
Sepn1-Related Myopathy Myopathy Due to Calsequestrin and Serca1 Protein Overload

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

(show top 50)    (show all 688)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy31.5KBTBD13, ACTA1, NEB, TPM3, TPM2, TNNT1
2centronuclear myopathy31.3DES, RYR1, MTM1
3myofibrillar myopathy31.1DES, CRYAB
4muscular dystrophy31.1COL6A3
5myositis30.9NEB, DYSF, RYR1
6congenital fiber-type disproportion30.8RYR1, ACTA1, TPM3
7central core myopathy30.7NEB, DES, RYR1
8limb-girdle muscular dystrophy30.7MTM1, NEB, DYSF
9respiratory failure30.6ACTA1, RYR1
10neuropathy30.6GNE, NEB, DYSF, RYR1, MTM1
11myopathy congenital30.5RYR1, DYSF, ACTA1, DES, MYH7, NEB
12hypertrophic cardiomyopathy30.5TPM3, MYH7
13myotonic dystrophy30.5CRYAB, MYH7, RYR1, MTM1
14dilated cardiomyopathy30.4CRYAB, RYR1, MYH7, DES
15kearns-sayre syndrome30.4MYH2
16distal muscular dystrophy30.1DYSF, MATR3
17distal arthrogryposis30.0MYH2, TPM3, TPM2, CFL2
18familial restrictive cardiomyopathy29.9MYH7, DES
19neuromuscular disease29.4RYR1, CRYAB, DYSF, ACTA1, MTM1, GNE
20inclusion body myositis10.7
21bethlem myopathy10.7
22vacuolar myopathy10.6
23lactic acidosis10.6
24miyoshi myopathy10.6
25polyneuropathy10.5
26x-linked centronuclear myopathy10.5
27critical illness polyneuropathy10.5
28laing distal myopathy10.5
29hereditary myopathy with early respiratory failure10.4
30neutral lipid storage disease with myopathy10.4
31ophthalmoplegia10.4
32dementia10.4
33frontotemporal dementia10.4
34cap myopathy10.4
35inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.4
36myosin storage myopathy10.4
37polymyositis10.4
38myopathy with deficiency of iron-sulfur cluster assembly enzyme10.4
39visceral myopathy10.4
40dermatomyositis10.4
41oculopharyngodistal myopathy10.4
42x-linked myopathy with excessive autophagy10.4
43idiopathic myopathy10.4
44cytoplasmic body myopathy10.3
45tubular aggregate myopathy10.3
46malignant hyperthermia10.3
47reducing body myopathy10.3
48rigid spine syndrome10.3
49spheroid body myopathy10.3
50brody myopathy10.3

Graphical network of the top 20 diseases related to Myopathy:



Diseases related to myopathy

Symptoms for Myopathy

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Drugs & Therapeutics for Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Myopathy

Drug clinical trials:

Search ClinicalTrials for Myopathy

Search NIH Clinical Center for Myopathy

Search CenterWatch for Myopathy

Genetic Tests for Myopathy

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Sources:
23GTR
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Genetic tests related to Myopathy:

id Genetic test Affiliating Genes
1 Myopathy23

Anatomical Context for Myopathy

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Sources:
34MalaCards
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MalaCards organs/tissues related to Myopathy:

34
Skeletal muscle, Bone, Skin, Brain, Heart, Lung, Testes, Liver, T cells, Smooth muscle, Endothelial, Thyroid, B cells, Monocytes, Retina, Eye, Small intestine, Pancreas, Myeloid, Colon, Pituitary

Animal Models for Myopathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5CRYAB, COL6A3, NEB, ACTA1, MTM1, RYR1
2MP:00053788.3GNE, RYR1, COL6A3, ACTA1, MTM1, NEB
3MP:00107687.9DES, CFL2, GNE, TPM3, MTM1, ACTA1
4MP:00053867.8RYR1, CRYAB, DES, DYSF, CFL2, GNE
5MP:00053697.2MTM1, COL6A3, CFL2, GNE, TPM3, RYR1

Publications for Myopathy

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Sources:
53PubMed
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Articles related to Myopathy:

(show top 50)    (show all 2460)
idTitleAuthorsYear
1
Fatal Hepatic Hemorrhage from Peliosis Hepatis with X-linked Myotubular Myopathy: A Case Report. (24172586)
2013
2
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? (23975873)
2013
3
No effect of combined coenzyme Q10 and selenium supplementation on atorvastatin-induced myopathy. (23301875)
2013
4
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
5
Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia. (23140793)
2013
6
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene. (23146629)
2013
7
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
8
Characterization of the Asian myopathy patients with VCP mutations. (22040362)
2012
9
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy. (21350120)
2011
10
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. (20151463)
2010
11
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595)
2010
12
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
13
Genetic involvement in statins induced myopathy. Preliminary data from an observational case-control study. (20347093)
2010
14
A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation. (20457903)
2010
15
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. (17889967)
2009
16
Metabolic myopathies: update 2009. (19258857)
2009
17
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. (19197364)
2009
18
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. (18503509)
2008
19
Nemaline rod myopathy: a rare form of myopathy. (17272906)
2007
20
Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. (17410322)
2007
21
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
22
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
23
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
2007
24
Dermatomyositis, lobar panniculitis and inflammatory myopathy with abundant macrophages. (16809038)
2006
25
Skeletal muscle repair in a mouse model of nemaline myopathy. (16877500)
2006
26
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
27
X-linked myotubular and centronuclear myopathies. (16042307)
2005
28
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. (16087914)
2005
29
Congenital myopathies]. (14593641)
2003
30
Clinical course correlates poorly with muscle pathology in nemaline myopathy. (12601110)
2003
31
Anti-aminoacyl tRNA synthetase immune responses: insights into the pathogenesis of the idiopathic inflammatory myopathies. (14569199)
2003
32
Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins. (12006676)
2002
33
Differences in idiopathic inflammatory myopathy phenotypes and genotypes between Mesoamerican Mestizos and North American Caucasians: ethnogeographic influences in the genetics and clinical expression of myositis. (12124873)
2002
34
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. (12473753)
2002
35
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. (11687801)
2001
36
Defective mitochondrial oxidative phosphorylation in myopathies with tubular aggregates originating from sarcoplasmic reticulum. (11706933)
2001
37
Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy. (10981652)
2000
38
Centronuclear myopathy--morphological relation to developing human skeletal muscle: a clinicopathological evaluation. (10751809)
2000
39
High bone mass and hypocalcaemic myopathy in a patient with idiopathic hypoparathyroidism. (10752503)
2000
40
Expression of adhesion molecules in idiopathic inflammatory myopathies. Immunohistochemical study of 17 cases]. (10320905)
1999
41
Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy. (10451074)
1999
42
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. (9855517)
1998
43
Cytoplasmic body myopathy: familial cases with accumulation of desmin and dystrophin. An immunohistochemical, immunoelectron microscopic and biochemical study. (7484090)
1995
44
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. (7663526)
1995
45
Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. (7935525)
1994
46
Expression of cell surface and cytoskeleton developmentally regulated proteins in adult centronuclear myopathies. (1517767)
1992
47
Centronuclear myopathy. (469562)
1979
48
Nemaline myopathy. (506794)
1979
49
Familial centronuclear myopathy associated with 'cardiomyopathy'. (131568)
1976
50
Glycogenic myopathy. A case of skeletal muscle-glycogenosis in twins. (4232619)
1965

Variations for Myopathy

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Expression for genes affiliated with Myopathy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy

Search GEO for disease gene expression data for Myopathy.

Pathways for genes affiliated with Myopathy

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Sources:
51PathCards, 54QIAGEN, 61Thomson Reuters, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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Pathways related to Myopathy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1ACTA1, CFL2
2
Show member pathways
9.9MYH2, ACTA1, MYH7
3
Show member pathways
9.8MYH7, MYH2, CFL2
49.7TPM3, MYH7, TPM2
59.7MYH7, TPM3, TPM2
6
Show member pathways
9.7MYH7, MYH2, ACTA1, CFL2
7
Show member pathways
9.7MYH2, MYH7, CFL2, ACTA1
8
Show member pathways
9.7CFL2, MYH7, MYH2, ACTA1
9
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.7CFL2, MYH7, MYH2, ACTA1
10
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.5MYH7, DES, TPM3, TPM2
11
Show member pathways
9.4COL6A3, ACTA1, CFL2, MYH7, MYH2
12
Show member pathways
9.1ACTA1, DES, NEB, TPM3, TPM2, TNNT1
13
Show member pathways
9.1CFL2, DES, MYH7, MYH2, ACTA1, COL6A3

Compounds for genes affiliated with Myopathy

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Sources:
62Tocris Bioscience, 46Novoseek, 30IUPHAR, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin6210.1MYH7, MYH2
2bts6210.0MYH7, MYH2
3phalloidin4610.0NEB, DES
4(s)-(-)-blebbistatin629.9MYH7, MYH2
5actomyosin469.9TNNT1, MYH7, MYH2, NEB
6(+-)-blebbistatin629.7MYH7, MYH2
7ryanodine46 30 6211.6RYR1, NEB, MYH7, DES
8polyacrylamide469.5DES, MYH7, NEB, CRYAB
9creatinine469.1DES, MYH7, ACTA1, DYSF, RYR1
10calcium46 52 25 1210.6RYR1, DES, TNNT1, TPM2, TPM3, MYH7

GO Terms for genes affiliated with Myopathy

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17Gene Ontology
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Cellular components related to Myopathy according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1muscle thin filament tropomyosinGO:00586210.1TPM2, TPM3
2sarcomereGO:03001710.1MYH7, MYH2, ACTA1
3muscle myosin complexGO:00585910.0MYH2, MYH7
4A bandGO:03167210.0MYH2, KLHL40
5stress fiberGO:00172510.0ACTA1, MYH7, TPM3
6I bandGO:03167410.0CFL2, MTM1, RYR1
7myosin filamentGO:0329829.9MYH2, MYH7
8actin cytoskeletonGO:0156299.7CFL2, NEB, ACTA1
9Z discGO:0300189.6CRYAB, NEB, MYH7, DES
10T-tubuleGO:0303159.6RYR1, DYSF
11sarcolemmaGO:0423839.5DYSF, COL6A3, DES
12extracellular vesicular exosomeGO:0700628.3TPM3, NEB, ACTA1, COL6A3, DYSF, CRYAB
13cytosolGO:0058298.2CRYAB, DES, GNE, TNNT1, TPM2, TPM3

Biological processes related to Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:0487419.9RYR1, ACTA1
2plasma membrane repairGO:0017789.6MYH2, DYSF
3muscle organ developmentGO:0075179.2CRYAB, COL6A3, NEB
4muscle filament slidingGO:0300498.7DES, TNNT1, TPM2, TPM3, MYH7, MYH2
5muscle contractionGO:0069368.3RYR1, DES, TPM2, TPM3, MYH7, MYH2

Molecular functions related to Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00830710.1NEB, TPM2
2microfilament motor activityGO:0001469.9MYH2, MYH7
3calmodulin bindingGO:0055169.4RYR1, MYH2, MYH7
4actin bindingGO:0037799.2TPM3, NEB, MYH2, MYH7, TPM2, CFL2
5protein bindingGO:0055157.4MTM1, NEB, ACTA1, MYH2, CFL2, MATR3

Products for genes affiliated with Myopathy

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Sources for Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet