MCID: MYS032
MIFTS: 34

Myosin Storage Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myosin Storage Myopathy

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Aliases & Descriptions for Myosin Storage Myopathy:

Name: Myosin Storage Myopathy 48 25
Myopathy, Myosin Storage 27 68
Hyaline Body Myopathy 48 54
 
Autosomal Dominant Hyaline Body Myopathy 25
Myopathy, Hyaline Body 12

Classifications:



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ICD10 via Orphanet31 G71.2

Summaries for Myosin Storage Myopathy

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NIH Rare Diseases:48 Myosin storage myopathy is an inherited condition that affects the muscles. signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. myosin storage myopathy is primarily characterized by muscle weakness with minimal or very slow progression. as a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. myosin storage myopathy is caused by changes (mutations) in the myh7 gene and is typically inherited in an autosomal dominant manner. treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy. last updated: 2/8/2016

MalaCards based summary: Myosin Storage Myopathy, also known as myopathy, myosin storage, is related to myh7-related myosin storage myopathy and myopathy, myosin storage, autosomal dominant, and has symptoms including waddling gait and waddling gait. An important gene associated with Myosin Storage Myopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways are Allograft rejection and Vascular smooth muscle contraction.

Genetics Home Reference:25 Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.

Related Diseases for Myosin Storage Myopathy

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Graphical network of diseases related to Myosin Storage Myopathy:



Diseases related to myosin storage myopathy

Symptoms & Phenotypes for Myosin Storage Myopathy

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UMLS symptoms related to Myosin Storage Myopathy:


waddling gait

Drugs & Therapeutics for Myosin Storage Myopathy

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Myosin Storage Myopathy

Genetic Tests for Myosin Storage Myopathy

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Genetic tests related to Myosin Storage Myopathy:

id Genetic test Affiliating Genes
1 Myosin Storage Myopathy27

Anatomical Context for Myosin Storage Myopathy

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Publications for Myosin Storage Myopathy

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Articles related to Myosin Storage Myopathy:

(show all 12)
idTitleAuthorsYear
1
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy. (25666907)
2015
2
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. (21723124)
2011
3
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
4
Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. (20376763)
2010
5
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. (19336582)
2009
6
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. (19138847)
2009
7
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. (17336526)
2007
8
Myosin storage myopathy with cardiomyopathy. (17588755)
2007
9
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. (17372140)
2007
10
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. (16684601)
2006
11
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. (15699387)
2005
12
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. (14520662)
2003

Variations for Myosin Storage Myopathy

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Clinvar genetic disease variations for Myosin Storage Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_ 000257.3(MYH7): c.1988G> A (p.Arg663His)SNVPathogenicrs371898076GRCh37Chr 14, 23896042: 23896042

Expression for genes affiliated with Myosin Storage Myopathy

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Search GEO for disease gene expression data for Myosin Storage Myopathy.

Pathways for genes affiliated with Myosin Storage Myopathy

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Pathways related to Myosin Storage Myopathy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1MYH6, MYH7
2
Show member pathways
9.1MYH6, MYH7
3
Show member pathways
9.1MYH6, MYH7
4
Show member pathways
9.1MYH6, MYH7
5
Show member pathways
9.1MYH6, MYH7
69.1MYH6, MYH7
7
Show member pathways
9.1MYH6, MYH7
8
Show member pathways
9.1MYH6, MYH7
99.1MYH6, MYH7

GO Terms for genes affiliated with Myosin Storage Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1muscle myosin complexGO:00058599.8MYH6, MYH7
2myofibrilGO:00300169.7MYH6, MYH7
3myosin complexGO:00164599.7MYH6, MYH7
4myosin filamentGO:00329829.7MYH6, MYH7
5sarcomereGO:00300179.7MYH6, MYH7
6stress fiberGO:00017259.7MYH6, MYH7
7Z discGO:00300189.1MYH6, MYH7

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:00075129.8MYH6, MYH7
2ATP metabolic processGO:00460349.7MYH6, MYH7
3cardiac muscle contractionGO:00600489.7MYH6, MYH7
4cardiac muscle hypertrophy in response to stressGO:00148989.7MYH6, MYH7
5muscle contractionGO:00069369.7MYH6, MYH7
6muscle filament slidingGO:00300499.7MYH6, MYH7
7regulation of heart rateGO:00020279.6MYH6, MYH7
8regulation of the force of heart contractionGO:00020269.6MYH6, MYH7
9striated muscle contractionGO:00069419.5MYH6, MYH7
10ventricular cardiac muscle tissue morphogenesisGO:00550109.1MYH6, MYH7

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.8MYH6, MYH7
2actin-dependent ATPase activityGO:00308989.8MYH6, MYH7
3ATPase activityGO:00168879.8MYH6, MYH7
4calmodulin bindingGO:00055169.8MYH6, MYH7
5microfilament motor activityGO:00001469.8MYH6, MYH7
6motor activityGO:00037749.8MYH6, MYH7
7nucleotide bindingGO:00001669.1MYH6, MYH7

Sources for Myosin Storage Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet