MCID: MYS032
MIFTS: 38

Myosin Storage Myopathy malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Myosin Storage Myopathy

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21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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:47 255160,608358

Aliases & Classifications for Myosin Storage Myopathy

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21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 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 21
hyaline body myopathy 49 47
autosomal dominant hyaline body myopathy 21
myopathy, myosin storage 47


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ICD10 via Orphanet26 G71.2

Related Diseases for Myosin Storage Myopathy

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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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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52PubMed
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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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myosin Storage Myopathy:

64
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, 15Gene 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:
50PathCards, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 60Thomson 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 motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
9.0MYH6, MYH7
89.0MYH6, MYH7
9
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
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:
45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 51PharmGKB
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Compounds related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1phosphocreatine45 2410.6MYH7, DNAH8
2actomyosin459.6DNAH8, MYH7
3glycerol45 24 1111.4MYH7, DNAH8
4succinate459.4DNAH8, MYH6
5(+-)-blebbistatin619.4MYH6, MYH7
6(s)-(-)-blebbistatin619.4MYH7, MYH6
7bts619.3MYH6, MYH7
8(r)-(+)-blebbistatin619.3MYH6, MYH7
9carnitine459.3DNAH8, MYH6
10creatinine459.3MYH7, DNAH8
11thyroxine45 2410.3DNAH8, MYH6
12ryanodine45 29 6111.3MYH7, MYH6
13isoproterenol45 1110.2MYH7, MYH6
14norepinephrine45 24 1111.1DNAH8, MYH6
15polyacrylamide459.1MYH6, MYH7
16glutamine459.0DNAH8, MYH7
17chloramphenicol45 3 51 1111.8DNAH8, MYH7, MYH6
18arginine458.8MYH6, DNAH8, MYH7
19atp45 299.7DNAH8, MYH6, MYH7
20calcium45 51 24 1111.4MYH7, DNAH8, MYH6

GO Terms for genes affiliated with Myosin Storage Myopathy

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet