MCID: SCP008
MIFTS: 23

Scapuloperoneal Syndrome, Myopathic Type malady

Genetic diseases, Rare diseases, Muscle diseases categories

Aliases & Classifications for Scapuloperoneal Syndrome, Myopathic Type

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Aliases & Descriptions for Scapuloperoneal Syndrome, Myopathic Type:

Name: Scapuloperoneal Syndrome, Myopathic Type 46 9 42
Myh7-Related Scapuloperoneal Myopathy 42 20 22
Scapuloperoneal Myopathy, Myh7-Related 46 42
X-Linked Emery-Dreifuss Muscular Dystrophy 61
 
Scapuloperoneal Muscular Dystrophy 42
Spmd 42
Spmm 42


Classifications:



External Ids:

OMIM46 181430

Summaries for Scapuloperoneal Syndrome, Myopathic Type

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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: Scapuloperoneal Syndrome, Myopathic Type, also known as myh7-related scapuloperoneal myopathy, is related to muscular dystrophy and emery-dreifuss muscular dystrophy, and has symptoms including autosomal dominant inheritance, abnormality of metabolism/homeostasis and myopathy. An important gene associated with Scapuloperoneal Syndrome, Myopathic Type is MYH7 (myosin, heavy chain 7, cardiac muscle, beta).

Description from OMIM:46 181430

Related Diseases for Scapuloperoneal Syndrome, Myopathic Type

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Diseases related to Scapuloperoneal Syndrome, Myopathic Type via text searches within MalaCards or GeneCards Suite gene sharing:

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

Graphical network of diseases related to Scapuloperoneal Syndrome, Myopathic Type:



Diseases related to scapuloperoneal syndrome, myopathic type

Symptoms for Scapuloperoneal Syndrome, Myopathic Type

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Symptoms by clinical synopsis from OMIM:

181430

Clinical features from OMIM:

181430

HPO human phenotypes related to Scapuloperoneal Syndrome, Myopathic Type:

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 Scapuloperoneal Syndrome, Myopathic Type

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Drug clinical trials:

Search ClinicalTrials for Scapuloperoneal Syndrome, Myopathic Type

Search NIH Clinical Center for Scapuloperoneal Syndrome, Myopathic Type

Genetic Tests for Scapuloperoneal Syndrome, Myopathic Type

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Genetic tests related to Scapuloperoneal Syndrome, Myopathic Type:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, Myh7-Related20 22 MYH7

Anatomical Context for Scapuloperoneal Syndrome, Myopathic Type

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Animal Models for Scapuloperoneal Syndrome, Myopathic Type or affiliated genes

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Publications for Scapuloperoneal Syndrome, Myopathic Type

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Variations for Scapuloperoneal Syndrome, Myopathic Type

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UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Syndrome, Myopathic Type:

63
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098

Clinvar genetic disease variations for Scapuloperoneal Syndrome, Myopathic Type:

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

Expression for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

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Search GEO for disease gene expression data for Scapuloperoneal Syndrome, Myopathic Type.

Pathways for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

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Compounds for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

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GO Terms for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

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Sources for Scapuloperoneal Syndrome, Myopathic Type

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet