SPMM
MCID: SCP008
MIFTS: 29

Scapuloperoneal Syndrome, Myopathic Type (SPMM) 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 52 48 12
Scapuloperoneal Myopathy, Myh7-Related 52 48 24
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 48 54
Myh7-Related Late-Onset Scapuloperoneal Syndrome 48 54
Scapuloperoneal Myopathy Myh7-Related 70 27
Scapuloperoneal Muscular Dystrophy 48 24
Myh7-Related Late-Onset Spmd 48 54
 
Spmm 48 70
X-Linked Emery-Dreifuss Muscular Dystrophy 68
Scapuloperoneal Syndrome, Myopathyic Type 24
Scapuloperoneal Syndrome Myopathic Type 70
Myh7-Related Scapuloperoneal Myopathy 48
Spmd 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
scapuloperoneal syndrome, myopathic type:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM52 181430
Orphanet54 ORPHA437572
ICD10 via Orphanet31 G71.0

Summaries for Scapuloperoneal Syndrome, Myopathic Type

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NIH Rare Diseases:48 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 Dilated cardiomyopathy.

UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Scapuloperoneal Syndrome, Myopathic Type

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Symptoms by clinical synopsis from OMIM:

181430

Clinical features from OMIM:

181430

Human phenotypes related to Scapuloperoneal Syndrome, Myopathic Type:

 64
id Description HPO Frequency HPO Source Accession
1 emg64 HP:0003458
2 scapuloperoneal myopathy64 HP:0009054
3 weakness of facial musculature64 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-Related27 24 MYH7

Anatomical Context for Scapuloperoneal Syndrome, Myopathic Type

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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:

70
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)SNVPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
2MYH7NM_ 000257.3(MYH7): c.1544T> C (p.Met515Thr)SNVLikely pathogenicrs863224900GRCh37Chr 14, 23897743: 23897743
3MYH7NM_ 000257.3(MYH7): c.1988G> A (p.Arg663His)SNVPathogenicrs371898076GRCh37Chr 14, 23896042: 23896042

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet