MCID: MYS032
MIFTS: 41

Myosin Storage Myopathy malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Myosin Storage Myopathy

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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 based summary: Myosin Storage Myopathy, also known as autosomal dominant hyaline body myopathy, is related to myopathy and myh7-related myosin storage myopathy, and has symptoms including autosomal recessive inheritance, elevated serum creatine phosphokinase and emg. 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.

OMIM:46 Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the... (608358) more...

Description from OMIM:46 255160

Aliases & Classifications for Myosin Storage Myopathy

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Sources:
22Genetics Home Reference, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Myosin Storage Myopathy, Aliases & Descriptions:

Name: Myosin Storage Myopathy 22
Autosomal Dominant Hyaline Body Myopathy 22 61
 
Myopathy, Myosin Storage 46 61
Hyaline Body Myopathy 48 46


Classifications:

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


External Ids:

ICD10 via Orphanet27 G71.2

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 for Myosin Storage Myopathy

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Symptoms by clinical synopsis from OMIM:

255160

Clinical features from OMIM:

255160,608358

HPO human phenotypes related to Myosin Storage Myopathy:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 elevated serum creatine phosphokinase HP:0003236
3 emg HP:0003458
4 slow progression HP:0003677
5 centrally nucleated skeletal muscle fibers HP:0003687
6 scapuloperoneal amyotrophy HP:0003697
7 scapuloperoneal weakness HP:0003704
8 type 1 muscle fiber predominance HP:0003803
9 autosomal dominant inheritance HP:0000006
10 abnormality of the cardiovascular system HP:0001626
11 waddling gait HP:0002515
12 reduced vital capacity HP:0002792
13 generalized muscle weakness HP:0003324
14 onset HP:0003674
15 scapular winging HP:0003691
16 calf muscle pseudohypertrophy HP:0003707
17 generalized limb muscle atrophy HP:0009055

Drugs & Therapeutics for Myosin Storage Myopathy

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Drug clinical trials:

Search ClinicalTrials for Myosin Storage Myopathy

Search NIH Clinical Center for Myosin Storage Myopathy

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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Articles related to Myosin Storage Myopathy:

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

Variations for Myosin Storage Myopathy

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UniProtKB/Swiss-Prot genetic disease variations for Myosin Storage Myopathy:

63
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098
2MYH7p.His1901LeuVAR_042840

Clinvar genetic disease variations for Myosin Storage Myopathy:

7
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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Expression patterns in normal tissues for genes affiliated with Myosin Storage Myopathy

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/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0MYH7, MYH6
2
Show member pathways
9.0MYH6, MYH7
3
Show member pathways
9.0MYH6, MYH7
4
Show member pathways
9.0MYH6, MYH7
5
Show member pathways
9.0MYH6, MYH7
6
Show member pathways
9.0MYH6, MYH7
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
9.0MYH7, MYH6
89.0MYH6, MYH7
9
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
9.0MYH6, MYH7
10
Show member pathways
9.0MYH7, MYH6
119.0MYH6, MYH7
12
Show member pathways
9.0MYH6, MYH7
139.0MYH6, MYH7

Compounds for genes affiliated with Myosin Storage Myopathy

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Compounds related to Myosin Storage Myopathy according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1phosphocreatine44 2510.6MYH7, DNAH8
2actomyosin449.6DNAH8, MYH7
3glycerol44 25 1211.4DNAH8, MYH7
4succinate449.4DNAH8, MYH6
5(r)-(+)-blebbistatin609.4MYH7, MYH6
6bts609.4MYH7, MYH6
7(s)-(-)-blebbistatin609.3MYH7, MYH6
8(+-)-blebbistatin609.3MYH7, MYH6
9carnitine449.3DNAH8, MYH6
10creatinine449.3DNAH8, MYH7
11thyroxine44 2510.3DNAH8, MYH6
12ryanodine44 29 6011.3MYH6, MYH7
13isoproterenol44 1210.2MYH7, MYH6
14norepinephrine44 25 1211.1DNAH8, MYH6
15polyacrylamide449.1MYH7, MYH6
16glutamine449.0DNAH8, MYH7
17chloramphenicol44 3 50 1211.8DNAH8, MYH6, MYH7
18arginine448.8MYH7, MYH6, DNAH8
19atp44 299.7MYH7, MYH6, DNAH8
20calcium44 50 25 1211.4MYH7, MYH6, DNAH8

GO Terms for genes affiliated with Myosin Storage Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1muscle myosin complexGO:0058599.2MYH6, MYH7
2myosin filamentGO:0329829.1MYH6, MYH7
3myosin complexGO:0164599.1MYH6, MYH7
4sarcomereGO:0300179.0MYH7, MYH6
5focal adhesionGO:0059259.0MYH6, MYH7
6stress fiberGO:0017258.9MYH6, MYH7
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:0075129.2MYH6, MYH7
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:0020279.0MYH7, MYH6
6ATP catabolic processGO:0062009.0MYH6, MYH7
7muscle filament slidingGO:0300498.9MYH6, MYH7
8muscle contractionGO:0069368.7MYH6, MYH7

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

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

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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet