MCID: MYP004
MIFTS: 52

Myopathy malady

Summaries for Myopathy

Sources:
8Disease Ontology, 44NINDS, 64Wikipedia, 33MalaCards
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NINDS:44 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. 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:64 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

Sources:
8Disease Ontology, 22GTR, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM
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Aliases & Descriptions:

myopathy 8 22 44 10 45 61


Related Diseases for Myopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the myopathy with postural muscle atrophy, x-linked family:

myopathy myopathy congenital
familial visceral myopathy with external ophthalmoplegia myopathy with lysis of myofibrils
myopathy, congenital, with fiber-type disproportion 1 congenital myopathy with excess of muscle spindles
myopathy, congenital, with fiber-type disproportion, x-linked myopathy with hexagonally cross-linked tubular arrays
inflammatory myopathy with abundant macrophages 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 602)
idRelated DiseaseScoreTop Affiliating Genes
1nemaline myopathy31.5TNNT1, DES, MYOT, RYR1, ACTA1, TPM2
2centronuclear myopathy31.2MTM1, DES, RYR1
3myopathy congenital31.2ACTA1, RYR1, MYH7, DES, MTM1, NEB
4bethlem myopathy31.0COL6A3, COL6A2
5myofibrillar myopathy30.9CRYAB, DES
6congenital fiber-type disproportion30.7RYR1, ACTA1
7central core myopathy30.6MYOT, DES, NEB, RYR1
8limb-girdle muscular dystrophy30.5MYOT, DYSF
9polymyositis30.5DYSF
10spheroid body myopathy30.5DES, MYOT
11hypertrophic cardiomyopathy30.4MYH7, TPM3
12distal muscular dystrophy30.3MATR3, DYSF
13ullrich congenital muscular dystrophy30.2COL6A2, COL6A3
14distal arthrogryposis29.9TPM2, CFL2, TPM3
15calpainopathy29.9MYOT, DYSF
16familial restrictive cardiomyopathy29.8MYH7, DES
17noonan syndrome29.5RYR1, MYH7, CRYAB, DES, MYOT, DYSF
18limb-girdle muscular dystrophy, type 1a29.5MYOT, DYSF
19familial hypertrophic cardiomyopathy29.5MYH7
20myotilinopathy29.5MYOT
21inclusion body myositis10.7
22vacuolar myopathy10.6
23idiopathic myopathy10.6
24miyoshi myopathy10.6
25laing distal myopathy10.5
26critical illness polyneuropathy10.5
27x-linked centronuclear myopathy10.4
28cap myopathy10.4
29rod myopathy10.4
30myosin storage myopathy10.4
31frontotemporal dementia10.4
32inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.4
33tubular aggregate myopathy10.4
34myopathy with deficiency of iron-sulfur cluster assembly enzyme10.4
35n syndrome10.4
36neutral lipid storage disease with myopathy10.4
37cytoplasmic body myopathy10.3
38distal myopathy with vocal cord weakness10.3
39adult-onset nemaline myopathy10.3
40oculopharyngodistal myopathy10.3
41hereditary myopathy with early respiratory failure10.3
42intranuclear rod myopathy10.3
43myopathy - thyrotoxic10.3
44brody myopathy10.3
45melas syndrome10.3
46malignant hyperthermia10.3
47salih myopathy10.3
48x-linked myopathy with excessive autophagy10.3
49mitochondrial disorders10.3
50native american myopathy10.3

Graphical network of the top 20 diseases related to Myopathy:



Diseases related to myopathy

Clinical Features for Myopathy

Drugs & Therapeutics for Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
22GTR
See all sources

Genetic tests related to Myopathy:

id Genetic test Affiliating Genes
1 Myopathy22

Anatomical Context for Myopathy

Animal Models for Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538611.8GNE, DYSF, CRYAB, NEB, MTM1, DES
2MP:000536911.5GNE, DYSF, CRYAB, NEB, MTM1, DES

Publications for Myopathy

Sources:
51PubMed
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Articles related to Myopathy:

(show top 50)    (show all 2186)
idTitleAuthorsYear
1
Interleukin-1I+ Reversibly Inhibits Skeletal Muscle Ryanodine Receptor: A Novel Mechanism for Critical Illness Myopathy? (24400695)
2014
2
Undiagnosed myopathy before surgery and safe anaesthesia table. (24399867)
2013
3
Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. (23338057)
2013
4
Hereditary inclusion body myopathy in Persian Jews: a case report from Iran. (23841835)
2013
5
Major histocompatibility complex class I and II expression in idiopathic inflammatory myopathy. (23343957)
2013
6
Becker Muscular Dystrophy-Like Myopathy Regarded as So-Called "Fatty Muscular Dystrophy" in a Pig: A Case Report and Its Diagnostic Method. (24162004)
2013
7
Acquired myopathy/dystrophies. (23584160)
2013
8
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients. (23437777)
2013
9
Ischemic stroke and intestinal bleeding under dabigatran in metabolic myopathy. (24279385)
2013
10
Hereditary myopathy with early respiratory failure: occurrence in various populations. (23606733)
2013
11
Myopathy after switching from brand to generic atorvastatin. (24329838)
2013
12
Maximizing functional independence in sporadic late onset nemaline myopathy. (23245665)
2012
13
Altered sodium channel-protein associations in critical illness myopathy. (22935229)
2012
14
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis. (22527239)
2012
15
Fat-corrected T2 measurement as a marker of active muscle disease in inflammatory myopathy. (22528929)
2012
16
Increased frequency of DRB1*11:01 in anti-hydroxymethylglutaryl-coenzyme A reductase-associated autoimmune myopathy. (22422616)
2012
17
Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case. (23287327)
2012
18
Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery. (22232594)
2012
19
Mucosal necrosis of the small intestine in myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome. (23139618)
2012
20
Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. (21850008)
2011
21
SLCO1B1 rs4149056 polymorphism associated with statin-induced myopathy is differently distributed according to ethnicity in the Brazilian general population: Amerindians as a high risk ethnic group. (21992719)
2011
22
Phenotype variability and histopathological findings in centronuclear myopathy due to DNM2 mutations. (21221624)
2011
23
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. (20192704)
2010
24
Incontinetia pigmenti-related myopathy or unsolved "double trouble"? (20064724)
2010
25
A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families. (19645060)
2009
26
Nemaline rod myopathy: a rare form of myopathy. (17272906)
2007
27
A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy. (18006961)
2007
28
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. (17005396)
2006
29
Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. (15894869)
2005
30
Inflammatory myopathy in a patient with cutaneous findings of pityriasis rubra pilaris: a case of Wong's dermatomyositis. (14749988)
2004
31
Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant. (12812987)
2003
32
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. (12493767)
2003
33
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. (11941538)
2002
34
Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. (11552027)
2001
35
PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness. (9829272)
1998
36
Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. (9673986)
1998
37
Acute quadriplegic myopathy: analysis of myosin isoforms and evidence for calpain-mediated proteolysis. (9052810)
1997
38
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (8640223)
1996
39
Neonatal centronuclear myopathy with N-CAM decorated myotubes. (7969799)
1994
40
Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome. (8320628)
1993
41
Acute myopathy associated with chronic licorice ingestion: reversible loss of myoadenylate deaminase activity. (1440976)
1992
42
Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). (1877612)
1991
43
Cardiac arrest during anesthesia induction with halothane and succinylcholine in an infant. Massive hyperkalemia and rhabdomyolysis in suspected myopathy and/or malignant hyperthermia]. (1952045)
1991
44
Myopathy with altered mitochondria due to a triosephosphate isomerase (TPI) deficiency. (2339591)
1990
45
Pathology of congenital nemaline myopathy. A follow-up study. (3356991)
1988
46
Fast to slow change of myosin in nemaline rod myopathy. (6684269)
1983
47
Infantile centronuclear myopathy. Evidence suggesting incomplete innervation. (6875615)
1983
48
Neuropathy in myotubular or centronuclear myopathy. (1147795)
1975
49
Fingerprint body myopathy, a newly recognized congenital muscle disease. (4339422)
1972
50
NEMALINE MYOPATHY; A SECOND CASE. (14147679)
1964

Genetic Variations for Myopathy

Expression for genes affiliated with Myopathy

Sources:
1BioGPS, 15Gene 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

Sources:
38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 30KEGG
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Compounds for genes affiliated with Myopathy

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Myopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 50 11 2414.9DYSF, TNNT1, CRYAB, NEB, DES, MYH7
2creatinine4511.2ACTA1, RYR1, MYH7, DES, DYSF
3ryanodine45 29 6013.1RYR1, MYH7, DES, NEB
4actomyosin4510.8TNNT1, NEB, MYH7
5polyacrylamide4510.8CRYAB, NEB, DES, MYH7

GO Terms for genes affiliated with Myopathy

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

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

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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  • Antibodies

Sources for Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet