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 23
Myopathy, Myosin Storage 23 12
 
Hyaline Body Myopathy, Autosomal Dominant 23

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 dominant11.3

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 Myopathy23 MYH7

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.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 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
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