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 46 24
Myopathy, Myosin Storage 25 66
Hyaline Body Myopathy 46 52
 
Autosomal Dominant Hyaline Body Myopathy 24
Myopathy, Hyaline Body 12

Classifications:



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Orphanet52 ORPHA53698
ICD10 via Orphanet29 G71.2

Summaries for Myosin Storage Myopathy

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NIH Rare Diseases:46 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, 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 Hypertrophic cardiomyopathy (HCM) and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases.

Genetics Home Reference:24 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 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 Myopathy25

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 12)
idTitleAuthorsYear
1
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy. (25666907)
2015
2
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. (21288719)
2011
3
Scoliosis surgery in a patient with "de novo" myosin storage myopathy. (21723124)
2011
4
Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. (20376763)
2010
5
Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. (19138847)
2009
6
Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. (19336582)
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.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
2MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantLikely pathogenic, Pathogenicrs121913654GRCh37Chr 14, 23884385: 23884385

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:

(show all 11)
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
6
Show member pathways
9.1MYH6, MYH7
79.1MYH6, MYH7
8
Show member pathways
9.1MYH6, MYH7
99.1MYH6, MYH7
109.1MYH6, MYH7
119.1MYH6, 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
1myosin filamentGO:00329829.7MYH6, MYH7
2muscle myosin complexGO:00058599.6MYH6, MYH7
3sarcomereGO:00300179.4MYH6, MYH7
4myosin complexGO:00164599.4MYH6, MYH7
5stress fiberGO:00017259.2MYH6, MYH7
6myofibrilGO:00300169.1MYH6, MYH7
7Z discGO:00300188.8MYH6, MYH7

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle hypertrophy in response to stressGO:00148989.6MYH6, MYH7
2striated muscle contractionGO:00069419.5MYH6, MYH7
3adult heart developmentGO:00075129.4MYH6, MYH7
4ventricular cardiac muscle tissue morphogenesisGO:00550109.4MYH6, MYH7
5regulation of the force of heart contractionGO:00020269.4MYH6, MYH7
6ATP metabolic processGO:00460349.3MYH6, MYH7
7muscle filament slidingGO:00300499.2MYH6, MYH7
8cardiac muscle contractionGO:00600489.1MYH6, MYH7
9regulation of heart rateGO:00020279.1MYH6, MYH7
10muscle contractionGO:00069368.8MYH6, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1microfilament motor activityGO:00001469.8MYH6, MYH7
2actin-dependent ATPase activityGO:00308989.8MYH6, MYH7
3calmodulin bindingGO:00055169.5MYH6, MYH7
4ATPase activityGO:00168879.1MYH6, MYH7
5actin bindingGO:00037799.0MYH6, MYH7

Sources for Myosin Storage Myopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet