MCID: MYS032
MIFTS: 38

Myosin Storage Myopathy malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Myosin Storage Myopathy

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Myosin Storage Myopathy, also known as hyaline body myopathy, is related to myopathy and myh7-related myosin storage myopathy. An important gene associated with Myosin Storage Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Actin Nucleation by ARP-WASP Complex and Allograft rejection. The compounds phosphocreatine and actomyosin have been mentioned in the context of this disorder.

Description from OMIM:48 255160,608358

Aliases & Classifications for Myosin Storage Myopathy

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22Genetics Home Reference, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

myosin storage myopathy 22
hyaline body myopathy 50 48
autosomal dominant hyaline body myopathy 22
myopathy, myosin storage 48


External Ids:

ICD10 via Orphanet27 G71.2

Related Diseases for Myosin Storage Myopathy

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Myosin Storage Myopathy:



Diseases related to myosin storage myopathy

Symptoms for Myosin Storage Myopathy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

255160

Clinical features from OMIM:

255160,608358

Drugs & Therapeutics for Myosin Storage Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Myosin Storage Myopathy

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Anatomical Context for Myosin Storage Myopathy

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Animal Models for Myosin Storage Myopathy or affiliated genes

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Publications for Myosin Storage Myopathy

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53PubMed
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Articles related to Myosin Storage Myopathy:

idTitleAuthorsYear
1
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
2
Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. (20376763)
2010
3
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. (19336582)
2009
4
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. (19138847)
2009
5
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. (17336526)
2007
6
Myosin storage myopathy with cardiomyopathy. (17588755)
2007
7
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. (17372140)
2007
8
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. (15699387)
2005
9
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. (14520662)
2003

Variations for Myosin Storage Myopathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myosin Storage Myopathy:

65
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098
2MYH7p.His1901LeuVAR_042840

Clinvar genetic disease variations for Myosin Storage Myopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
2MYH7NM_000257.3(MYH7): c.5702A> T (p.His1901Leu)single nucleotide variantPathogenicrs121913649GRCh37Chr 14, 23883056: 23883056
3MYH7NM_000257.3(MYH7): c.5647G> A (p.Glu1883Lys)single nucleotide variantPathogenicrs121913652GRCh37Chr 14, 23883224: 23883224
4MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385

Expression for genes affiliated with Myosin Storage Myopathy

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myosin Storage Myopathy

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Pathways for genes affiliated with Myosin Storage Myopathy

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Sources:
51PathCards, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 61Thomson Reuters
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Pathways related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0MYH6, MYH7
2
Show member pathways
9.0MYH7, MYH6
3
Show member pathways
9.0MYH6, MYH7
4
Show member pathways
9.0MYH7, MYH6
5
Show member pathways
9.0MYH7, MYH6
6
Show member pathways
9.0MYH6, MYH7
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.0MYH6, MYH7
89.0MYH6, MYH7
9
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
9.0MYH7, MYH6
10
Show member pathways
9.0MYH6, MYH7
119.0MYH6, MYH7
12
Show member pathways
9.0MYH6, MYH7
139.0MYH7, MYH6

Compounds for genes affiliated with Myosin Storage Myopathy

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Sources:
46Novoseek, 25HMDB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 52PharmGKB
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Compounds related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1phosphocreatine46 2510.6MYH7, DNAH8
2actomyosin469.6DNAH8, MYH7
3glycerol46 25 1211.4MYH7, DNAH8
4succinate469.4DNAH8, MYH6
5(+-)-blebbistatin629.4MYH6, MYH7
6(s)-(-)-blebbistatin629.4MYH7, MYH6
7bts629.3MYH6, MYH7
8(r)-(+)-blebbistatin629.3MYH6, MYH7
9carnitine469.3DNAH8, MYH6
10creatinine469.3MYH7, DNAH8
11thyroxine46 2510.3DNAH8, MYH6
12ryanodine46 30 6211.3MYH7, MYH6
13isoproterenol46 1210.2MYH7, MYH6
14norepinephrine46 25 1211.1DNAH8, MYH6
15polyacrylamide469.1MYH6, MYH7
16glutamine469.0DNAH8, MYH7
17chloramphenicol46 3 52 1211.8DNAH8, MYH7, MYH6
18arginine468.8MYH6, DNAH8, MYH7
19atp46 309.7DNAH8, MYH6, MYH7
20calcium46 52 25 1211.4MYH7, DNAH8, MYH6

GO Terms for genes affiliated with Myosin Storage Myopathy

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17Gene Ontology
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Cellular components related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:0329829.2MYH7, MYH6
2muscle myosin complexGO:0058599.1MYH6, MYH7
3myosin complexGO:0164599.1MYH7, MYH6
4sarcomereGO:0300179.0MYH6, MYH7
5focal adhesionGO:0059259.0MYH7, MYH6
6stress fiberGO:0017258.9MYH7, MYH6
7Z discGO:0300188.7MYH6, MYH7

Biological processes related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:0075129.2MYH7, MYH6
2striated muscle contractionGO:0069419.2MYH6, MYH7
3regulation of the force of heart contractionGO:0020269.1MYH6, MYH7
4ventricular cardiac muscle tissue morphogenesisGO:0550109.1MYH7, MYH6
5regulation of heart rateGO:0020279.0MYH6, MYH7
6ATP catabolic processGO:0062009.0MYH6, MYH7
7muscle filament slidingGO:0300498.9MYH6, MYH7
8muscle contractionGO:0069368.7MYH7, MYH6

Molecular functions related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:0308989.1MYH7, MYH6
2microfilament motor activityGO:0001469.0MYH6, MYH7
3actin bindingGO:0037799.0MYH7, MYH6
4calmodulin bindingGO:0055168.7MYH7, MYH6
5ATPase activityGO:0168878.6MYH7, MYH6, DNAH8
6ATP bindingGO:0055248.4DNAH8, MYH7, MYH6

Products for genes affiliated with Myosin Storage Myopathy

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Sources for Myosin Storage Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet