MCID: MYH011
MIFTS: 9

Myh7-Related Myosin Storage Myopathy

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Myh7-Related Myosin Storage Myopathy

MalaCards integrated aliases for Myh7-Related Myosin Storage Myopathy:

Name: Myh7-Related Myosin Storage Myopathy 24
Myopathy, Myosin Storage 24 13
Hyaline Body Myopathy, Autosomal Dominant 24

Classifications:



Summaries for Myh7-Related Myosin Storage Myopathy

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

Related Diseases for Myh7-Related Myosin Storage Myopathy

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:

id Related Disease Score Top Affiliating Genes
1 myopathy, myosin storage, autosomal recessive 12.4
2 myosin storage myopathy 11.2
3 myopathy, myosin storage, autosomal dominant 11.2

Symptoms & Phenotypes for Myh7-Related Myosin Storage Myopathy

Drugs & Therapeutics for Myh7-Related Myosin Storage Myopathy

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

Genetic Tests for Myh7-Related Myosin Storage Myopathy

Genetic tests related to Myh7-Related Myosin Storage Myopathy:

id Genetic test Affiliating Genes
1 Myh7-Related Myosin Storage Myopathy 24 MYH7

Anatomical Context for Myh7-Related Myosin Storage Myopathy

Publications for Myh7-Related Myosin Storage Myopathy

Variations for Myh7-Related Myosin Storage Myopathy

ClinVar genetic disease variations for Myh7-Related 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 Myh7-Related Myosin Storage Myopathy

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

Pathways for Myh7-Related Myosin Storage Myopathy

GO Terms for Myh7-Related Myosin Storage Myopathy

Sources for Myh7-Related 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
46 NCI
47 NCIt
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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