MCID: SCP008
MIFTS: 31

Scapuloperoneal Syndrome, Myopathic Type malady

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

Aliases & Classifications for Scapuloperoneal Syndrome, Myopathic Type

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Aliases & Descriptions for Scapuloperoneal Syndrome, Myopathic Type:

Name: Scapuloperoneal Syndrome, Myopathic Type 50 46 12
Scapuloperoneal Myopathy, Myh7-Related 50 46 23
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 46 52
Myh7-Related Late-Onset Scapuloperoneal Syndrome 46 52
Scapuloperoneal Myopathy Myh7-Related 68 25
Scapuloperoneal Muscular Dystrophy 46 23
Myh7-Related Late-Onset Spmd 46 52
 
Spmm 46 68
X-Linked Emery-Dreifuss Muscular Dystrophy 66
Scapuloperoneal Syndrome, Myopathyic Type 23
Scapuloperoneal Syndrome Myopathic Type 68
Myh7-Related Scapuloperoneal Myopathy 46
Spmd 46

Characteristics:

Orphanet epidemiological data:

52
myh7-related late-onset scapuloperoneal muscular dystrophy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: Not yet documented

HPO:

62
scapuloperoneal syndrome, myopathic type:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression


Classifications:



External Ids:

OMIM50 181430
Orphanet52 ORPHA437572
ICD10 via Orphanet29 G71.0

Summaries for Scapuloperoneal Syndrome, Myopathic Type

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NIH Rare Diseases:46 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 scapuloperoneal myopathy, myh7-related, is related to scapuloperoneal myopathy, x-linked dominant and emery-dreifuss muscular dystrophy, and has symptoms including waddling gait, emg and scapuloperoneal myopathy. An important gene associated with Scapuloperoneal Syndrome, Myopathic Type is MYH7 (Myosin Heavy Chain 7), and among its related pathways is Hypertrophic cardiomyopathy (HCM).

UniProtKB/Swiss-Prot:68 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:50 181430

Related Diseases for Scapuloperoneal Syndrome, Myopathic Type

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

UMLS symptoms related to Scapuloperoneal Syndrome, Myopathic Type:


waddling gait

Drugs & Therapeutics for Scapuloperoneal Syndrome, Myopathic Type

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Interventional clinical trials:

Search ClinicalTrials, 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-Related25 23 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:

68
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098

Clinvar genetic disease variations for Scapuloperoneal Syndrome, Myopathic Type:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1EMDEMD, 2-BP DEL, NT564deletionPathogenic
2EMDNM_000117.2(EMD): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs267606782GRCh37Chr X, 153607845: 153607845
3EMDEMD, 29-BP DEL, NT113deletionPathogenic
4EMDEMD, 2-BP INS, NT198insertionPathogenic
5EMDEMD, IVSAS, A-G, -3, 214-BP INSinsertionPathogenic
6EMDNM_000117.2(EMD): c.130C> T (p.Gln44Ter)single nucleotide variantPathogenicrs132630262GRCh37Chr X, 153608097: 153608097
7EMDEMD, 1-BP DEL, FS236TERdeletionPathogenic
8EMDNM_000117.2(EMD): c.548C> A (p.Pro183His)single nucleotide variantPathogenicrs104894805GRCh37Chr X, 153609340: 153609340
9EMDNM_000117.2(EMD): c.547C> A (p.Pro183Thr)single nucleotide variantPathogenicrs104894806GRCh37Chr X, 153609339: 153609339
10EMDEMD, 5-BP DEL, NT631deletionPathogenic
11MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)single nucleotide variantPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
12EMDNM_000117.2(EMD): c.266-2A> Gsingle nucleotide variantPathogenicrs727503036GRCh37Chr X, 153608592: 153608592
13EMDNM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs)duplicationPathogenicrs730880352GRCh37Chr X, 153609442: 153609446

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3EMD, MYH7

GO Terms for genes affiliated with Scapuloperoneal Syndrome, Myopathic Type

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069369.3EMD, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.3EMD, MYH7

Sources for Scapuloperoneal Syndrome, Myopathic Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet