MCID: SCP008
MIFTS: 29

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 51 47 12
Scapuloperoneal Myopathy, Myh7-Related 51 47 24
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 47 53
Myh7-Related Late-Onset Scapuloperoneal Syndrome 47 53
Scapuloperoneal Myopathy Myh7-Related 69 26
Scapuloperoneal Muscular Dystrophy 47 24
Myh7-Related Late-Onset Spmd 47 53
 
Spmm 47 69
X-Linked Emery-Dreifuss Muscular Dystrophy 67
Scapuloperoneal Syndrome, Myopathyic Type 24
Scapuloperoneal Syndrome Myopathic Type 69
Myh7-Related Scapuloperoneal Myopathy 47
Spmd 47

Characteristics:

Orphanet epidemiological data:

53
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:

63
scapuloperoneal syndrome, myopathic type:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression

Classifications:



External Ids:

OMIM51 181430
Orphanet53 ORPHA437572
ICD10 via Orphanet30 G71.0

Summaries for Scapuloperoneal Syndrome, Myopathic Type

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NIH Rare Diseases:47 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 emg, scapuloperoneal myopathy and weakness of facial musculature. An important gene associated with Scapuloperoneal Syndrome, Myopathic Type is MYH7 (Myosin Heavy Chain 7).

UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Scapuloperoneal Syndrome, Myopathic Type:

 63
id Description HPO Frequency HPO Source Accession
1 emg63 HP:0003458
2 scapuloperoneal myopathy63 HP:0009054
3 weakness of facial musculature63 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-Related26 24 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:

69
id Symbol AA change Variation ID SNP ID
1MYH7p.Arg1845TrpVAR_017754rs28933098

Clinvar genetic disease variations for Scapuloperoneal Syndrome, Myopathic Type:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1EMDEMD, 2-BP DEL, NT564deletionPathogenicChr na, -1: -1
2EMDNM_000117.2(EMD): c.1A> G (p.Met1Val)SNVPathogenicrs267606782GRCh37Chr X, 153607845: 153607845
3EMDEMD, 29-BP DEL, NT113deletionPathogenicChr na, -1: -1
4EMDEMD, 2-BP INS, NT198insertionPathogenicChr na, -1: -1
5EMDEMD, IVSAS, A-G, -3, 214-BP INSinsertionPathogenicChr na, -1: -1
6EMDNM_000117.2(EMD): c.130C> T (p.Gln44Ter)SNVPathogenicrs132630262GRCh37Chr X, 153608097: 153608097
7EMDEMD, 1-BP DEL, FS236TERdeletionPathogenicChr na, -1: -1
8EMDNM_000117.2(EMD): c.548C> A (p.Pro183His)SNVPathogenicrs104894805GRCh37Chr X, 153609340: 153609340
9EMDNM_000117.2(EMD): c.547C> A (p.Pro183Thr)SNVPathogenicrs104894806GRCh37Chr X, 153609339: 153609339
10EMDEMD, 5-BP DEL, NT631deletionPathogenicChr na, -1: -1
11MYH7NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp)SNVPathogenicrs28933098GRCh37Chr 14, 23884230: 23884230
12EMDNM_000117.2(EMD): c.266-2A> GSNVPathogenicrs727503036GRCh37Chr X, 153608592: 153608592
13EMDNM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs)duplicationPathogenicrs730880352GRCh37Chr X, 153609442: 153609446
14MYH7NM_000257.3(MYH7): c.1544T> C (p.Met515Thr)SNVLikely pathogenicrs863224900GRCh37Chr 14, 23897743: 23897743

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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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:00069369.0EMD, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:00037799.0EMD, MYH7

Sources for Scapuloperoneal Syndrome, Myopathic Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet