MCID: MYS032
MIFTS: 34

Myosin Storage Myopathy

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Myosin Storage Myopathy

MalaCards integrated aliases for Myosin Storage Myopathy:

Name: Myosin Storage Myopathy 50 25 29
Hyaline Body Myopathy 50 56
Autosomal Dominant Hyaline Body Myopathy 25
Myopathy, Myosin Storage 69
Myopathy, Hyaline Body 13

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA53698
ICD10 via Orphanet 34 G71.2

Summaries for Myosin Storage Myopathy

NIH Rare Diseases : 50 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 hyaline body myopathy, is related to myh7-related myosin storage myopathy and myopathy, myosin storage, autosomal dominant, and has symptoms including waddling gait An important gene associated with Myosin Storage Myopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Sertoli-Sertoli Cell Junction Dynamics.

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

Graphical network of the top 20 diseases related to Myosin Storage Myopathy:



Diseases related to Myosin Storage Myopathy

Symptoms & Phenotypes for Myosin Storage Myopathy

UMLS symptoms related to Myosin Storage Myopathy:


waddling gait

Drugs & Therapeutics for Myosin Storage Myopathy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Myosin Storage Myopathy

Genetic Tests for Myosin Storage Myopathy

Genetic tests related to Myosin Storage Myopathy:

id Genetic test Affiliating Genes
1 Myosin Storage Myopathy 29

Anatomical Context for Myosin Storage Myopathy

Publications for Myosin Storage Myopathy

Articles related to Myosin Storage Myopathy:

(show all 13)
id Title Authors Year
1
Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells. ( 28125727 )
2017
2
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy. ( 25666907 )
2015
3
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. ( 21723124 )
2011
4
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. ( 21288719 )
2011
5
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. ( 20376763 )
2010
6
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. ( 19336582 )
2009
7
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. ( 19138847 )
2009
8
Myosin storage myopathy with cardiomyopathy. ( 17588755 )
2007
9
Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. ( 17372140 )
2007
10
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. ( 17336526 )
2007
11
Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. ( 16684601 )
2006
12
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. ( 15699387 )
2005
13
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. ( 14520662 )
2003

Variations for Myosin Storage Myopathy

ClinVar genetic disease variations for Myosin Storage Myopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh37 Chromosome 14, 23884230: 23884230
2 MYH7 NM_000257.3(MYH7): c.5702A> T (p.His1901Leu) single nucleotide variant Pathogenic rs121913649 GRCh37 Chromosome 14, 23883056: 23883056
3 MYH7 NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913654 GRCh37 Chromosome 14, 23884385: 23884385
4 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042

Expression for Myosin Storage Myopathy

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

Pathways for Myosin Storage Myopathy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 MYH6 MYH7
2
Show member pathways
12.22 MYH6 MYH7
3
Show member pathways
12.17 MYH6 MYH7
4
Show member pathways
12.11 MYH6 MYH7
5
Show member pathways
11.88 MYH6 MYH7
6
Show member pathways
11.64 MYH6 MYH7
7
Show member pathways
11.5 MYH6 MYH7
8 10.85 MYH6 MYH7
9 10.42 MYH6 MYH7

GO Terms for Myosin Storage Myopathy

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

id Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 9.32 MYH6 MYH7
2 sarcomere GO:0030017 9.26 MYH6 MYH7
3 myofibril GO:0030016 9.16 MYH6 MYH7
4 muscle myosin complex GO:0005859 8.96 MYH6 MYH7
5 myosin filament GO:0032982 8.62 MYH6 MYH7

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.46 MYH6 MYH7
2 cardiac muscle contraction GO:0060048 9.43 MYH6 MYH7
3 ATP metabolic process GO:0046034 9.4 MYH6 MYH7
4 muscle filament sliding GO:0030049 9.37 MYH6 MYH7
5 regulation of heart rate GO:0002027 9.32 MYH6 MYH7
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.26 MYH6 MYH7
7 striated muscle contraction GO:0006941 9.16 MYH6 MYH7
8 regulation of the force of heart contraction GO:0002026 8.96 MYH6 MYH7
9 adult heart development GO:0007512 8.62 MYH6 MYH7

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

id Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.4 MYH6 MYH7
2 actin binding GO:0003779 9.37 MYH6 MYH7
3 ATPase activity GO:0016887 9.32 MYH6 MYH7
4 calmodulin binding GO:0005516 9.26 MYH6 MYH7
5 motor activity GO:0003774 9.16 MYH6 MYH7
6 microfilament motor activity GO:0000146 8.96 MYH6 MYH7
7 actin-dependent ATPase activity GO:0030898 8.62 MYH6 MYH7

Sources for Myosin Storage Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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