SPMD
MCID: MYH003
MIFTS: 21

Myh7-Related Scapuloperoneal Myopathy (SPMD) malady

Genetic diseases, Rare diseases, Muscle diseases categories
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Summaries for Myh7-Related Scapuloperoneal Myopathy

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NIH Rare Diseases:42 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 based summary: Myh7-Related Scapuloperoneal Myopathy, also known as scapuloperoneal myopathy, myh7-related, is related to emery-dreifuss muscular dystrophy and muscular dystrophy, and has symptoms including An important gene associated with Myh7-Related Scapuloperoneal Myopathy is MYH7 (myosin, heavy chain 7, cardiac muscle, beta).

Description from OMIM:46 181430

Aliases & Classifications for Myh7-Related Scapuloperoneal Myopathy

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Myh7-Related Scapuloperoneal Myopathy, Aliases & Descriptions:

Name: Myh7-Related Scapuloperoneal Myopathy 42
Scapuloperoneal Myopathy, Myh7-Related 42 20 22 62
Scapuloperoneal Syndrome, Myopathic Type 42 46
X-Linked Emery-Dreifuss Muscular Dystrophy 62
 
Scapuloperoneal Muscular Dystrophy 42
Spmm 42
Spmd 42


Classifications:

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


Related Diseases for Myh7-Related Scapuloperoneal Myopathy

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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
1emery-dreifuss muscular dystrophy10.5
2muscular dystrophy10.5
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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Symptoms by clinical synopsis from OMIM:

181430

Clinical features from OMIM:

181430

HPO human phenotypes related to Myh7-Related Scapuloperoneal Myopathy:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of metabolism/homeostasis HP:0001939
3 myopathy HP:0003198
4 slow progression HP:0003677
5 scapuloperoneal myopathy HP:0009054

Drugs & Therapeutics for Myh7-Related Scapuloperoneal Myopathy

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Drug clinical trials:

Search ClinicalTrials for Myh7-Related Scapuloperoneal Myopathy

Search NIH Clinical Center for Myh7-Related Scapuloperoneal Myopathy

Genetic Tests for Myh7-Related Scapuloperoneal Myopathy

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Genetic tests related to Myh7-Related Scapuloperoneal Myopathy:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, Myh7-Related20 22 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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UniProtKB/Swiss-Prot genetic disease variations for Myh7-Related Scapuloperoneal Myopathy:

64
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098

Clinvar genetic disease variations for Myh7-Related Scapuloperoneal Myopathy:

6
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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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

Sources for Myh7-Related Scapuloperoneal Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet