SPMD
MCID: MYH003
MIFTS: 21

Myh7-Related Scapuloperoneal Myopathy (SPMD) malady

Genetic diseases, Rare diseases, Muscle diseases categories

Summaries for Myh7-Related Scapuloperoneal Myopathy

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Myh7-related scapuloperoneal myopathy is an inherited muscular dystrophy characterized by weakness and wasting of the muscles in the lower legs and the area of the shoulder blades. in some individuals, facial muscles may also be affected. while the progression varies from case to case, it tends to be relatively slow. some cases of scapuloperoneal myopathy are caused by mutations in the myh7 gene. autosomal dominant inheritance is suggested in these cases. treatment is symptomatic and supportive.   last updated: 8/9/2012

MalaCards: Myh7-Related Scapuloperoneal Myopathy, also known as scapuloperoneal myopathy, myh7-related, is related to muscular dystrophy and emery-dreifuss muscular dystrophy. An important gene associated with Myh7-Related Scapuloperoneal Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta).

Description from OMIM:48 181430

Aliases & Classifications for Myh7-Related Scapuloperoneal Myopathy

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


Aliases & Descriptions:

myh7-related scapuloperoneal myopathy 44
scapuloperoneal myopathy, myh7-related 44 21 23
scapuloperoneal syndrome, myopathic type 44 48
x-linked emery-dreifuss muscular dystrophy 63
scapuloperoneal muscular dystrophy 44
spmm 44
spmd 44


Related Diseases for Myh7-Related Scapuloperoneal Myopathy

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Myh7-Related Scapuloperoneal Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.4
2emery-dreifuss muscular dystrophy10.3
3myopathy10.3
4retinitis10.3
5telangiectasis10.3

Graphical network of diseases related to Myh7-Related Scapuloperoneal Myopathy:



Diseases related to myh7-related scapuloperoneal myopathy

Symptoms for Myh7-Related Scapuloperoneal Myopathy

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48OMIM
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Symptoms by clinical synopsis from OMIM:

181430

Clinical features from OMIM:

181430

Drugs & Therapeutics for Myh7-Related Scapuloperoneal Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Myh7-Related Scapuloperoneal Myopathy

Drug clinical trials:

Search ClinicalTrials for Myh7-Related Scapuloperoneal Myopathy

Search NIH Clinical Center for Myh7-Related Scapuloperoneal Myopathy

Search CenterWatch for Myh7-Related Scapuloperoneal Myopathy

Genetic Tests for Myh7-Related Scapuloperoneal Myopathy

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21GeneTests, 23GTR
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Genetic tests related to Myh7-Related Scapuloperoneal Myopathy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, Myh7-Related21 23 MYH7

Anatomical Context for Myh7-Related Scapuloperoneal Myopathy

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Animal Models for Myh7-Related Scapuloperoneal Myopathy or affiliated genes

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Publications for Myh7-Related Scapuloperoneal Myopathy

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Variations for Myh7-Related Scapuloperoneal Myopathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Myh7-Related Scapuloperoneal Myopathy:

65
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098

Clinvar genetic disease variations for Myh7-Related Scapuloperoneal Myopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230

Expression for genes affiliated with Myh7-Related Scapuloperoneal Myopathy

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myh7-Related Scapuloperoneal Myopathy

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

Pathways for genes affiliated with Myh7-Related Scapuloperoneal Myopathy

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Compounds for genes affiliated with Myh7-Related Scapuloperoneal Myopathy

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GO Terms for genes affiliated with Myh7-Related Scapuloperoneal Myopathy

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Products for genes affiliated with Myh7-Related Scapuloperoneal Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myh7-Related Scapuloperoneal Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet