MCID: MYP004
MIFTS: 53

Myopathy malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Myopathy

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NINDS:42 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 based summary: Myopathy is related to congenital fiber-type disproportion and muscular dystrophy. 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:63 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, 42NINDS, 11DISEASES, 43Novoseek, 22GTR, 60UMLS, 55SNOMED-CT, 27ICD9CM, 33MeSH
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Myopathy, Aliases & Descriptions:

Name: Myopathy 9 42 11 43 22 60


Classifications:

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


Related Diseases for Myopathy

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Diseases in the Myopathy family:

Gne-Related Myopathy Benign Autosomal Dominant Myopathy
Myopathy Congenital Myopathy Due to Calsequestrin and Serca1 Protein Overload

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

(show top 50)    (show all 700)
idRelated DiseaseScoreTop Affiliating Genes
1congenital fiber-type disproportion31.5ACTA1
2muscular dystrophy31.4COL6A3
3myofibrillar myopathy31.4DES, CRYAB
4nemaline myopathy31.3RYR1, ACTA1, NEB, TPM3, TPM2, TNNT1
5ophthalmoplegia31.3MYH2
6myopathy, centronuclear31.1RYR1, MTM1, DES
7myositis31.1RYR1, DYSF, NEB
8respiratory failure31.0RYR1, ACTA1
9limb-girdle muscular dystrophy30.9DYSF, MTM1, NEB
10central core disease30.9DES, NEB, RYR1
11hypertrophic cardiomyopathy30.6MYH7, TPM3
12myotonic dystrophy30.5RYR1, CRYAB, MTM1, MYH7
13dilated cardiomyopathy30.5DES, MYH7, CRYAB, RYR1
14myopathy, congenital, with fiber-type disproportion30.5RYR1, ACTA1, TPM3
15neuropathy30.5GNE, NEB, MTM1, DYSF, RYR1
16distal muscular dystrophy30.4DYSF, MATR3
17familial restrictive cardiomyopathy30.3MYH7, DES
18distal arthrogryposis30.2CFL2, TPM2, TPM3, MYH2
19myopathy congenital30.2MYH7, DES, NEB, MTM1, ACTA1, DYSF
20neuromuscular disease29.0DES, GNE, MTM1, ACTA1, DYSF, CRYAB
21inclusion body myositis10.7
22bethlem myopathy10.7
23vacuolar myopathy10.7
24lactic acidosis10.6
25neutral lipid storage disease with myopathy10.5
26polyneuropathy10.5
27laing distal myopathy10.5
28visceral myopathy10.5
29myotubular myopathy, x-linked10.5
30critical illness polyneuropathy10.5
31cap myopathy10.5
32reducing body myopathy10.4
33dementia10.4
34idiopathic myopathy10.4
35mitochondrial myopathy and sideroblastic anemia 110.4
36inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.4
37myopathy, tubular aggregate, 110.4
38miyoshi muscular dystrophy 110.4
39nemaline myopathy 3, autosomal dominant or recessive10.4
40malignant hyperthermia10.4
41polymyositis10.4
42myopathy, x-linked, with excessive autophagy10.4
43dermatomyositis10.4
44actin-accumulation myopathy10.4
45intranuclear rod myopathy10.4
46native american myopathy10.4
47brody myopathy10.4
48minicore myopathy with external ophthalmoplegia10.4
49myopathy, proximal, with early respiratory muscle involvement10.4
50cytoplasmic body myopathy10.4

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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Drug clinical trials:

Search ClinicalTrials for Myopathy

Search NIH Clinical Center for Myopathy

Genetic Tests for Myopathy

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Genetic tests related to Myopathy:

id Genetic test Affiliating Genes
1 Myopathy22

Anatomical Context for Myopathy

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MalaCards organs/tissues related to Myopathy:

31
Skeletal muscle, Bone, Skin, Brain, Heart, Lung, Testes, Liver, Smooth muscle, T cells, Thyroid, Eye, Retina, Monocytes, B cells, Endothelial, Pancreas, Thymus, Small intestine, Colon, Myeloid, Pituitary, Neutrophil

Animal Models for Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Myopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5NEB, MTM1, ACTA1, COL6A3, CRYAB, RYR1
2MP:00053788.3GNE, NEB, MTM1, ACTA1, COL6A3, CRYAB
3MP:00107687.9DES, CFL2, GNE, TPM3, NEB, MTM1
4MP:00053867.8DES, CFL2, GNE, NEB, MTM1, ACTA1
5MP:00053697.2RYR1, DES, CFL2, GNE, TPM3, NEB

Publications for Myopathy

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Articles related to Myopathy:

(show top 50)    (show all 2647)
idTitleAuthorsYear
1
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. (25749816)
2015
2
Identifying statin-associated autoimmune necrotizing myopathy. (25452351)
2014
3
Fatal Hepatic Hemorrhage from Peliosis Hepatis with X-linked Myotubular Myopathy: A Case Report. (24172586)
2013
4
Titin and centronuclear myopathy: The tip of the iceberg for TTN-ic mutations? (23975873)
2013
5
No effect of combined coenzyme Q10 and selenium supplementation on atorvastatin-induced myopathy. (23301875)
2013
6
The nemaline myopathy-causing E117K mutation in I^-tropomyosin reduces thin filament activation. (23689010)
2013
7
Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia. (23140793)
2013
8
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (24268661)
2013
9
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
10
Characterization of the Asian myopathy patients with VCP mutations. (22040362)
2012
11
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. (20151463)
2010
12
Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. (20358595)
2010
13
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. (21109227)
2010
14
Genetic involvement in statins induced myopathy. Preliminary data from an observational case-control study. (20347093)
2010
15
A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation. (20457903)
2010
16
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. (17889967)
2009
17
Metabolic myopathies: update 2009. (19258857)
2009
18
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. (19197364)
2009
19
The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family. (18503509)
2008
20
Nemaline rod myopathy: a rare form of myopathy. (17272906)
2007
21
Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. (17410322)
2007
22
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
23
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. (16967490)
2007
24
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
2007
25
Dermatomyositis, lobar panniculitis and inflammatory myopathy with abundant macrophages. (16809038)
2006
26
Adult-onset nemaline myopathy and monoclonal gammopathy. (16401746)
2006
27
X-linked myotubular and centronuclear myopathies. (16042307)
2005
28
Congenital myopathies]. (14593641)
2003
29
Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities. (14638363)
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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Search GEO for disease gene expression data for Myopathy.

Pathways for genes affiliated with Myopathy

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Pathways related to Myopathy according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CFL2, ACTA1
2
Show member pathways
9.9ACTA1, MYH2, MYH7
3
Show member pathways
9.8MYH2, MYH7, CFL2
49.7TPM2, TPM3, MYH7
59.7TPM2, TPM3, MYH7
6
Show member pathways
9.7ACTA1, MYH2, MYH7, CFL2
7
Show member pathways
9.7ACTA1, MYH2, MYH7, CFL2
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.7CFL2, MYH7, MYH2, ACTA1
9
Show member pathways
9.7CFL2, MYH7, MYH2, ACTA1
10
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.5DES, TPM2, TPM3, MYH7
11
Show member pathways
9.4CFL2, MYH7, MYH2, ACTA1, COL6A3
12
Show member pathways
9.1ACTA1, NEB, TPM3, TPM2, TNNT1, DES
13
Show member pathways
9.1DES, CFL2, MYH7, MYH2, ACTA1, COL6A3

Compounds for genes affiliated with Myopathy

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Compounds related to Myopathy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1(r)-(+)-blebbistatin5910.1MYH7, MYH2
2bts5910.0MYH7, MYH2
3phalloidin4310.0NEB, DES
4(s)-(-)-blebbistatin599.9MYH7, MYH2
5actomyosin439.9TNNT1, MYH7, MYH2, NEB
6(+-)-blebbistatin599.7MYH7, MYH2
7ryanodine43 28 5911.6RYR1, NEB, MYH7, DES
8polyacrylamide439.5DES, MYH7, NEB, CRYAB
9creatinine439.1DES, MYH7, ACTA1, DYSF, RYR1
10calcium43 49 24 1210.6RYR1, DES, TNNT1, TPM2, TPM3, MYH7

GO Terms for genes affiliated with Myopathy

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Cellular components related to Myopathy according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1muscle thin filament tropomyosinGO:000586210.1TPM2, TPM3
2sarcomereGO:003001710.1MYH7, MYH2, ACTA1
3muscle myosin complexGO:000585910.0MYH2, MYH7
4A bandGO:003167210.0MYH2, KLHL40
5stress fiberGO:000172510.0ACTA1, MYH7, TPM3
6I bandGO:003167410.0CFL2, MTM1, RYR1
7myosin filamentGO:00329829.9MYH2, MYH7
8actin cytoskeletonGO:00156299.7CFL2, NEB, ACTA1
9Z discGO:00300189.6CRYAB, NEB, MYH7, DES
10T-tubuleGO:00303159.6RYR1, DYSF
11sarcolemmaGO:00423839.5DYSF, COL6A3, DES
12extracellular vesicular exosomeGO:00700628.3TPM3, NEB, ACTA1, COL6A3, DYSF, CRYAB
13cytosolGO:00058298.2CRYAB, DES, GNE, TNNT1, TPM2, TPM3

Biological processes related to Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1skeletal muscle fiber developmentGO:00487419.9RYR1, ACTA1
2plasma membrane repairGO:00017789.6MYH2, DYSF
3muscle organ developmentGO:00075179.2CRYAB, COL6A3, NEB
4muscle filament slidingGO:00300498.7DES, TNNT1, TPM2, TPM3, MYH7, MYH2
5muscle contractionGO:00069368.3RYR1, DES, TPM2, TPM3, MYH7, MYH2

Molecular functions related to Myopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:000830710.1NEB, TPM2
2microfilament motor activityGO:00001469.9MYH7, MYH2
3calmodulin bindingGO:00055169.4RYR1, MYH2, MYH7
4actin bindingGO:00037799.2NEB, CFL2, TPM2, TPM3, MYH7, MYH2
5protein bindingGO:00055157.4DES, CFL2, MYH7, MYH2, NEB, MTM1

Products for genes affiliated with Myopathy

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Sources for Myopathy

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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