MCID: MYH011
MIFTS: 16

Myh7-Related Myosin Storage Myopathy malady

Genetic diseases (common) category

Aliases & Classifications for Myh7-Related Myosin Storage Myopathy

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Aliases & Descriptions for Myh7-Related Myosin Storage Myopathy:

Name: Myh7-Related Myosin Storage Myopathy 22
Myosin Storage Myopathy 23 24
Hyaline Body Myopathy, Autosomal Dominant 22
 
Autosomal Dominant Hyaline Body Myopathy 23
Myopathy, Myosin Storage 22


Classifications:



Summaries for Myh7-Related Myosin Storage Myopathy

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Genetics Home Reference:23 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: Myh7-Related Myosin Storage Myopathy, also known as myosin storage myopathy, is related to myopathy, myosin storage, autosomal recessive and myopathy. An important gene associated with Myh7-Related Myosin Storage Myopathy is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta).

Related Diseases for Myh7-Related Myosin Storage Myopathy

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Diseases in the Myopathy, Myosin Storage, Autosomal Dominant family:

Myopathy, Myosin Storage, Autosomal Recessive myh7-related myosin storage myopathy

Diseases related to Myh7-Related Myosin Storage Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myopathy, myosin storage, autosomal recessive10.6
2myopathy10.5
3cardiomyopathy10.5
4myopathy, myosin storage, autosomal dominant10.4
5hyaline body myopathy10.4
6dilated cardiomyopathy10.3
7scoliosis10.3
8congenital fiber-type disproportion10.3

Graphical network of diseases related to Myh7-Related Myosin Storage Myopathy:



Diseases related to myh7-related myosin storage myopathy

Symptoms for Myh7-Related Myosin Storage Myopathy

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Drugs & Therapeutics for Myh7-Related Myosin Storage Myopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myh7-Related Myosin Storage Myopathy

Genetic Tests for Myh7-Related Myosin Storage Myopathy

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Genetic tests related to Myh7-Related Myosin Storage Myopathy:

id Genetic test Affiliating Genes
1 Myh7-Related Myosin Storage Myopathy22 MYH7
2 Myopathy, Myosin Storage24

Anatomical Context for Myh7-Related Myosin Storage Myopathy

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Animal Models for Myh7-Related Myosin Storage Myopathy or affiliated genes

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Publications for Myh7-Related Myosin Storage Myopathy

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Variations for Myh7-Related Myosin Storage Myopathy

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Clinvar genetic disease variations for Myh7-Related Myosin Storage Myopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)single nucleotide variantPathogenicrs121913654GRCh37Chr 14, 23884385: 23884385

Expression for genes affiliated with Myh7-Related Myosin Storage Myopathy

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Search GEO for disease gene expression data for Myh7-Related Myosin Storage Myopathy.

Pathways for genes affiliated with Myh7-Related Myosin Storage Myopathy

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GO Terms for genes affiliated with Myh7-Related Myosin Storage Myopathy

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Sources for Myh7-Related Myosin Storage Myopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet