MCID: MYP004
MIFTS: 58

Myopathy malady

Summaries for Myopathy

About this section
Sources:
8Disease Ontology, 43NINDS, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 22GTR, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM
See all sources

Aliases & Descriptions:

myopathy 8 22 43 10 44 60


Related Diseases for Myopathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Myopathy

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
22GTR
See all sources

Genetic tests related to Myopathy:

id Genetic test Affiliating Genes
1 Myopathy22

Anatomical Context for Myopathy

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Myopathy:

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

Animal Models for Myopathy or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Myopathy:

(show top 50)    (show all 2479)
idTitleAuthorsYear
1
Successful treatment of refractory anti-signal recognition particle myopathy using abatacept. (23920268)
2014
2
Chronic vitamin E deficiency promotes vitamin C deficiency in zebrafish leading to degenerative myopathy and impaired swimming behavior. (23570751)
2013
3
Pathophysiology of human heart failure: importance of skeletal muscle myopathy and reflexes. (24293507)
2013
4
Surgical treatment of severe blepharoptosis and facial palsy caused by oculopharyngodistal myopathy. (23602269)
2013
5
Acquired myopathy/dystrophies. (23584160)
2013
6
Is vitamin D deficiency a confounder in alcoholic skeletal muscle myopathy? (23240627)
2013
7
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate. (24082934)
2013
8
Recent advances in nemaline myopathy. (23995272)
2013
9
Intranuclear rods myopathy with autonomic dysfunction. (23102861)
2013
10
Diabetic myopathy: impact of diabetes mellitus on skeletal muscle progenitor cells. (24391596)
2013
11
A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. (22504945)
2012
12
Inflammatory changes in infantile-onset LMNA-associated myopathy. (21632249)
2011
13
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). (19944167)
2010
14
DOK7 mutations presenting as a proximal myopathy in French Canadians. (20610155)
2010
15
Confirmation that abnormal desmin accumulation and migration are due to a desmin gene mutation in a familial cardiomyopathy and distal myopathy. (19716701)
2009
16
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. (20008564)
2009
17
Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure. (19208402)
2009
18
Chronic intestinal pseudo-obstruction caused by an intestinal inflammatory myopathy: case report and review of the literature. (18004985)
2008
19
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. (18553514)
2008
20
Distal inflammatory myopathy: unusual presentation of polymyositis or new entity? (18534849)
2008
21
Case of LGMD2A (calpainopathy) clinically presenting as Miyoshi distal myopathy]. (19048948)
2008
22
Nemaline myopathy caused by absence of alpha-skeletal muscle actin. (17187373)
2007
23
X-linked myotubular myopathy: report of a case with novel mutation. (17621527)
2007
24
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy. (16419137)
2006
25
Flaccid quadriplegia due to necrotizing myopathy following lung transplantation. (15621161)
2004
26
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. (14666402)
2004
27
A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. (12719381)
2003
28
Nebulin mutations in autosomal recessive nemaline myopathy: an update. (12207938)
2002
29
Inclusion-body myositis and myopathies: different etiologies, possibly similar pathogenic mechanisms. (12351995)
2002
30
Defective mitochondrial oxidative phosphorylation in myopathies with tubular aggregates originating from sarcoplasmic reticulum. (11706933)
2001
31
Successful botulinum toxin treatment of dysphagia in a young child with nemaline myopathy. (11453573)
2001
32
X-linked vacuolated myopathy : TNF-alpha and IFN-gamma expression in muscle fibers with MHC class I on sarcolemma. (11159171)
2001
33
High bone mass and hypocalcaemic myopathy in a patient with idiopathic hypoparathyroidism. (10752503)
2000
34
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. (10873395)
2000
35
Ketoacidosis accompanied by epileptic seizures in a patient with diabetes mellitus and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). (11119021)
2000
36
Muscular dystrophy in adult and aged anti-NGF transgenic mice resembles an inclusion body myopathy. (10679795)
2000
37
Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes. (10737122)
1998
38
Nemaline myopathy with intranuclear rods--intranuclear rod myopathy. (9132135)
1997
39
Adult-onset nemaline myopathy: a case report and review of the literature. (9372751)
1997
40
Acute quadriplegic myopathy: analysis of myosin isoforms and evidence for calpain-mediated proteolysis. (9052810)
1997
41
Siblings with rigid spine syndrome and nemaline rod myopathy, a unique association. (7580249)
1995
42
Intranuclear rods in severe congenital nemaline myopathy. (8232959)
1993
43
Dystrophin deficiency in a case of congenital myopathy. (1552307)
1992
44
Dominantly inherited tubular aggregate myopathy. (1484321)
1992
45
Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage. (1647283)
1991
46
Two cases of X-linked ichthyosis associated with myopathies]. (2253421)
1990
47
Congenital nemaline myopathy. A clinical follow-up of twelve patients. (2926439)
1989
48
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. (2840818)
1988
49
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. (2427665)
1986
50
The rigid spine syndrome--a myopathy of uncertain nosological position. (4045483)
1985

Genetic Variations for Myopathy

About this section

Expression for genes affiliated with Myopathy

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG
See all sources

Compounds for genes affiliated with Myopathy

About this section
Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myopathy

About this section
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