MCID: SCP008
MIFTS: 28

Scapuloperoneal Syndrome, Myopathic Type malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Scapuloperoneal Syndrome, Myopathic Type

About this section

Aliases & Descriptions for Scapuloperoneal Syndrome, Myopathic Type:

Name: Scapuloperoneal Syndrome, Myopathic Type 49 11 45
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 45 51
Myh7-Related Late-Onset Scapuloperoneal Syndrome 45 51
Scapuloperoneal Myopathy, Myh7-Related 45 22
Scapuloperoneal Myopathy Myh7-Related 67 24
Scapuloperoneal Muscular Dystrophy 45 22
Myh7-Related Late-Onset Spmd 45 51
 
Spmm 45 67
X-Linked Emery-Dreifuss Muscular Dystrophy 65
Scapuloperoneal Syndrome, Myopathyic Type 22
Scapuloperoneal Syndrome Myopathic Type 67
Myh7-Related Scapuloperoneal Myopathy 45
Spmd 45

Characteristics:

HPO:

61
scapuloperoneal syndrome, myopathic type:
Onset and clinical course: slow progression
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 181430
Orphanet51 437572
ICD10 via Orphanet28 G71.0
UMLS65 C0751337

Summaries for Scapuloperoneal Syndrome, Myopathic Type

About this section
NIH Rare Diseases:45 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 late-onset scapuloperoneal muscular dystrophy, is related to x-linked scapuloperoneal muscular dystrophy and emery-dreifuss muscular dystrophy, and has symptoms including weakness of facial musculature, scapuloperoneal myopathy and emg. An important gene associated with Scapuloperoneal Syndrome, Myopathic Type is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta), and among its related pathways is Hypertrophic cardiomyopathy (HCM).

UniProtKB/Swiss-Prot:67 Scapuloperoneal myopathy MYH7-related: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.

Description from OMIM:49 181430

Related Diseases for Scapuloperoneal Syndrome, Myopathic Type

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1x-linked scapuloperoneal muscular dystrophy12.5
2emery-dreifuss muscular dystrophy11.5
3keratitis10.3
4bruxism10.3
5acute myocarditis10.3
6myocarditis10.3
7acanthamoeba keratitis10.3
8cardiomyopathy with or without skeletal myopathy9.7EMD, MYH7
9drug-induced hepatitis9.5EMD, MYH7
10myeloproliferative neoplasms, familial9.2EMD, MYH7, SPPM

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



Diseases related to scapuloperoneal syndrome, myopathic type

Symptoms for Scapuloperoneal Syndrome, Myopathic Type

About this section

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 weakness of facial musculature HP:0030319
2 scapuloperoneal myopathy HP:0009054
3 emg HP:0003458

Drugs & Therapeutics for Scapuloperoneal Syndrome, Myopathic Type

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scapuloperoneal Syndrome, Myopathic Type

Genetic Tests for Scapuloperoneal Syndrome, Myopathic Type

About this section

Genetic tests related to Scapuloperoneal Syndrome, Myopathic Type:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, Myh7-Related22 MYH7

Anatomical Context for Scapuloperoneal Syndrome, Myopathic Type

About this section

Animal Models for Scapuloperoneal Syndrome, Myopathic Type or affiliated genes

About this section

Publications for Scapuloperoneal Syndrome, Myopathic Type

About this section

Variations for Scapuloperoneal Syndrome, Myopathic Type

About this section

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

67
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
1EMDNM_000117.2(EMD): c.130C> T (p.Gln44Ter)single nucleotide variantPathogenicrs132630262GRCh37Chr X, 153608097: 153608097
2MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230

Expression for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

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

Pathways for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

About this section

Pathways related to Scapuloperoneal Syndrome, Myopathic Type according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.0EMD, MYH7

GO Terms for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

About this section

Sources for Scapuloperoneal Syndrome, Myopathic Type

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet