MCID: MYP004
MIFTS: 58

Myopathy malady

Summaries for Myopathy

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8Disease Ontology, 43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 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 Striated Muscle Contraction and Rho Family GTPases. The compounds calcium and creatinine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and skin, and related mouse phenotypes are behavior/neurological and muscle.

Disease Ontology:8 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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8Disease Ontology, 22GTR, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM
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Aliases & Descriptions:

myopathy 8 22 43 10 44 60


Related Diseases for Myopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Myopathy family:

Gne-Related Myopathy Myopathy Congenital
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 610)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy31.4TNNT1, KBTBD13, NEB, CFL2, ACTA1, TPM2
2centronuclear myopathy31.2RYR1, DES, MTM1
3bethlem myopathy30.9COL6A2, COL6A3
4myofibrillar myopathy30.9CRYAB, DES
5muscular dystrophy30.9COL6A2, GNE, DYSF, NEB, DES, MYOT
6myositis30.8RYR1, NEB, DYSF
7congenital fiber-type disproportion30.7RYR1, ACTA1
8central core myopathy30.6NEB, DES, MYOT, RYR1
9neuropathy30.5COL6A2, GNE, DYSF, NEB, MTM1, MYOT
10limb-girdle muscular dystrophy30.5MYOT, DYSF
11myopathy congenital30.5DYSF, NEB, MTM1, DES, MYH7, RYR1
12myotonic dystrophy30.4CRYAB, MTM1, MYH7, RYR1
13hypertrophic cardiomyopathy30.4MYH7, TPM3
14spheroid body myopathy30.4DES, MYOT
15dilated cardiomyopathy30.4RYR1, MYH7, DES, CRYAB
16distal muscular dystrophy30.3MATR3, DYSF
17ullrich congenital muscular dystrophy30.2COL6A3, COL6A2
18distal arthrogryposis29.9TPM3, TPM2, CFL2
19calpainopathy29.9DYSF, MYOT
20polymyositis29.9DYSF
21familial hypertrophic cardiomyopathy29.7MYH7
22neuromuscular disease29.5GNE, DYSF, CRYAB, MTM1, DES, MYOT
23noonan syndrome29.5DYSF, CRYAB, DES, MYOT, MYH7, RYR1
24limb-girdle muscular dystrophy, type 1a29.5DYSF, MYOT
25inclusion body myositis10.6
26lactic acidosis10.6
27polyneuropathy10.5
28laing distal myopathy10.5
29critical illness polyneuropathy10.4
30hereditary myopathy with early respiratory failure10.4
31x-linked centronuclear myopathy10.4
32ophthalmoplegia10.4
33dementia10.4
34frontotemporal dementia10.4
35inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.4
36myopathy with deficiency of iron-sulfur cluster assembly enzyme10.4
37idiopathic myopathy10.3
38neutral lipid storage disease with myopathy10.3
39dermatomyositis10.3
40respiratory failure10.3
41cap myopathy10.3
42x-linked myopathy with excessive autophagy10.3
43mitochondrial disorders10.3
44distal myopathy with vocal cord weakness10.3
45brody myopathy10.3
46melas syndrome10.3
47malignant hyperthermia10.3
48hypothyroidism10.3
49salih myopathy10.3
50welander distal myopathy, swedish type10.3

Graphical network of the top 20 diseases related to Myopathy:



Diseases related to myopathy

Clinical Features for Myopathy

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Drugs & Therapeutics for Myopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
22GTR
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Genetic tests related to Myopathy:

id Genetic test Affiliating Genes
1 Myopathy22

Anatomical Context for Myopathy

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Sources:
32MalaCards
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MalaCards organs/tissues related to Myopathy:

32
Skeletal muscle, Bone, Skin, Brain, Heart, Lung, Testes, Liver, T cells, Smooth muscle, Endothelial, Thyroid, Monocytes, B cells, Retina, Eye, Colon, Small intestine, Pituitary, Myeloid, Pancreas

Animal Models for Myopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538611.8DYSF, CRYAB, NEB, MTM1, DES, RYR1
2MP:000536911.5ACTA1, GNE, DYSF, CRYAB, NEB, MTM1

Publications for Myopathy

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50PubMed
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Articles related to Myopathy:

(show top 50)    (show all 2479)
idTitleAuthorsYear
1
Pipestem capillaries in necrotizing myopathy revisited. (23102899)
2013
2
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. (23338057)
2013
3
Myopathy as paraneoplastic syndrome of colon malignancy in an elderly patient. (23739910)
2013
4
Mitochondrial myopathy: a rare cause of early-onset vocal fold atrophy. (23577570)
2013
5
Seasonal pasture myopathy/atypical myopathy in North America associated with ingestion of hypoglycin A within seeds of the box elder tree. (23167695)
2013
6
Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy. (23656990)
2013
7
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. (23462291)
2013
8
Electronic Health Records For Biological Sample Collection: Feasibility Study Of Statin-Induced Myopathy Using The Clinical Practice Research Datalink. (24308359)
2013
9
Visceral myopathy presenting as acute appendicitis and ogilvie syndrome. (23738185)
2013
10
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
11
The multifaceted character of lymphotoxin I^ in inflammatory myopathies and muscular dystrophies. (22652080)
2012
12
Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene. (22632780)
2012
13
A myopathy-related actin mutation increases contractile function. (22358459)
2012
14
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. (21496625)
2011
15
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. (20308477)
2010
16
Gene expression of proteolytic systems and growth regulators of skeletal muscle in horses with myopathy associated with pituitary pars intermedia dysfunction. (20513182)
2010
17
Scleromyxedema with myopathy was successfully treated by thalidomide. (18435730)
2009
18
Expression of the CD85j (leukocyte Ig-like receptor 1, Ig-like transcript 2) receptor for class I major histocompatibility complex molecules in idiopathic inflammatory myopathies. (18821690)
2008
19
Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. (18565829)
2008
20
Tumour necrosis factor-alpha single nucleotide polymorphisms are not independent of HLA class I in UK Caucasians with adult onset idiopathic inflammatory myopathies. (17586554)
2007
21
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. (17483490)
2007
22
Danon disease as a cause of autophagic vacuolar myopathy. (18377432)
2007
23
Critical illness myopathy: what is happening? (16778569)
2006
24
A case of hereditary inclusion body myopathy: 1 patient, 2 novel mutations. (19078806)
2006
25
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. (15917273)
2005
26
Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. (15894869)
2005
27
Molecular pathomechanism of distal myopathy with rimmed vacuoles. (16550921)
2005
28
Novel dysferlin mutations and characteristic muscle atrophy in late- onset Miyoshi myopathy. (15116377)
2004
29
A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy. (14659412)
2004
30
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha- actin gene mutations. (15236405)
2004
31
Anti-aminoacyl tRNA synthetase immune responses: insights into the pathogenesis of the idiopathic inflammatory myopathies. (14569199)
2003
32
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. (12884002)
2003
33
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. (12899872)
2003
34
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. (11733541)
2002
35
Genotype-phenotype correlations in X-linked myotubular myopathy. (12467749)
2002
36
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. (12391347)
2002
37
Bethlem myopathy in a Taiwanese family. (11480253)
2001
38
Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy. (10981652)
2000
39
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. (10655510)
2000
40
Cytochrome c oxidase deficiency in the muscle of patients with zidovudine myopathy is segmental and affects both mitochondrial DNA- and nuclear DNA-encoded subunits. (10912924)
2000
41
Leucocyte/endothelial cell adhesion receptors in muscle biopsies from patients with idiopathic inflammatory myopathies (IIM). (9099932)
1996
42
Congenital myopathy with ringlike distribution of myonuclei and mitochondria and accumulation of nemaline rods. A variant of centronuclear myopathy? (7546014)
1995
43
HMG-CoA reductase inhibitors, gemfibrozil, and myopathy. (7717303)
1995
44
Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings. (8140891)
1994
45
Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. (1347195)
1992
46
Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. (1822797)
1991
47
Nemaline myopathy. Evidence of dipeptidyl peptidase I deficiency. (3942512)
1986
48
Familial centronuclear myopathy: a haploid DNA disease? (463498)
1979
49
Nemaline myopathy. A fatal case. (4378108)
1967
50
VACUOLAR MYOPATHY. A CLINICAL AND ELECTRON MICROSCOPIC STUDY. (14272234)
1963

Genetic Variations for Myopathy

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Expression for genes affiliated with Myopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myopathy

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Pathways for genes affiliated with Myopathy

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37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Myopathy

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 49 11 2414.9DYSF, TNNT1, CRYAB, NEB, DES, MYH7
2creatinine4411.2ACTA1, RYR1, MYH7, DES, DYSF
3ryanodine44 28 5913.1RYR1, MYH7, DES, NEB
4actomyosin4410.8TNNT1, NEB, MYH7
5polyacrylamide4410.8CRYAB, NEB, DES, MYH7

GO Terms for genes affiliated with Myopathy

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16Gene Ontology
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Cellular components related to Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582911.5GNE, TNNT1, CRYAB, NEB, MTM1, DES
2Z discGO:03001811.3MYH7, MYOT, DES, NEB, CRYAB
3actin cytoskeletonGO:01562911.3TPM3, ACTA1, CFL2, MYOT, NEB
4sarcolemmaGO:04238311.2COL6A2, COL6A3, DES, MYOT
5stress fiberGO:00172510.8TPM3, ACTA1, MYH7
6muscle thin filament tropomyosinGO:00586210.8TPM2, TPM3
7I bandGO:03167410.8RYR1, MTM1

Biological processes related to Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00693611.5CRYAB, DES, MYOT, MYH7, RYR1, ACTA1
2muscle filament slidingGO:03004911.5TPM3, TNNT1, NEB, DES, MYH7, ACTA1
3skeletal muscle fiber developmentGO:04874110.8ACTA1, RYR1
4muscle organ developmentGO:00751710.6NEB, CRYAB, COL6A3

Molecular functions related to Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551512.2DYSF, CRYAB, NEB, MTM1, DES, MATR3
2actin bindingGO:00377911.0NEB, MYOT, MYH7, CFL2, TPM2, TPM3
3structural constituent of muscleGO:00830711.0TPM2, MYH7, MYOT, NEB

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet