MCID: MYH011

Myh7-Related Myosin Storage Myopathy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

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 24
Myopathy, Myosin Storage 24 12
 
Hyaline Body Myopathy, Autosomal Dominant 24

Classifications:



Summaries for Myh7-Related Myosin Storage Myopathy

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MalaCards based summary: Myh7-Related Myosin Storage Myopathy, also known as myopathy, myosin storage, is related to myopathy, myosin storage, autosomal recessive and myopathy, myosin storage, autosomal dominant. An important gene associated with Myh7-Related Myosin Storage Myopathy is MYH7 (Myosin Heavy Chain 7).

Related Diseases for Myh7-Related Myosin Storage Myopathy

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Diseases in the Myosin Storage Myopathy family:

Myopathy, Myosin Storage, Autosomal Dominant 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 recessive12.4
2myopathy, myosin storage, autosomal dominant11.2

Symptoms & Phenotypes 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 Myopathy24 MYH7

Anatomical Context for Myh7-Related Myosin Storage Myopathy

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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.5533C> T (p.Arg1845Trp)SNVPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
2MYH7NM_000257.3(MYH7): c.5378T> C (p.Leu1793Pro)SNVLikely pathogenic, Pathogenicrs121913654GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet