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

Aliases & Descriptions for Scapuloperoneal Syndrome, Myopathic Type:

Name: Scapuloperoneal Syndrome, Myopathic Type 54 50 13
Scapuloperoneal Myopathy, Myh7-Related 54 50 24
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 50 56
Myh7-Related Late-Onset Scapuloperoneal Syndrome 50 56
Scapuloperoneal Myopathy Myh7-Related 66 29
Scapuloperoneal Muscular Dystrophy 50 24
Myh7-Related Late-Onset Spmd 50 56
Spmm 50 66
X-Linked Emery-Dreifuss Muscular Dystrophy 69
Scapuloperoneal Syndrome, Myopathyic Type 24
Scapuloperoneal Syndrome Myopathic Type 66
Myh7-Related Scapuloperoneal Myopathy 50
Spmd 50

Characteristics:

Orphanet epidemiological data:

56
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:

32
scapuloperoneal syndrome, myopathic type:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 181430
Orphanet 56 ORPHA437572
ICD10 via Orphanet 34 G71.0

Summaries for Scapuloperoneal Syndrome, Myopathic Type

NIH Rare Diseases : 50 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), and among its related pathways/superpathways is Dilated cardiomyopathy.

UniProtKB/Swiss-Prot : 66 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: 181430

Related Diseases for Scapuloperoneal Syndrome, Myopathic Type

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

(show all 14)
id Related Disease Score Top Affiliating Genes
1 scapuloperoneal myopathy, x-linked dominant 11.0
2 emery-dreifuss muscular dystrophy 11.0
3 muscular dystrophy 10.2
4 telangiectasis 9.9
5 retinitis 9.9
6 myopathy 9.9
7 dowling-degos disease 9.9 EMD MYH7
8 mosaic trisomy 1 9.9 EMD MYH7
9 retinitis pigmentosa 18 9.9 EMD MYH7
10 microcephaly and chorioretinopathy 2 9.8 EMD MYH7
11 emery-dreifuss muscular dystrophy, dominant type 9.8 EMD MYH7
12 spindle cell sarcoma 9.8 EMD MYH7
13 cdkl5-related angelman-like syndrome 9.7 EMD MYH7
14 glomerulosclerosis, focal segmental, 5 9.7 EMD MYH7 SPPM

Graphical network of the top 20 diseases related to Scapuloperoneal Syndrome, Myopathic Type:



Diseases related to Scapuloperoneal Syndrome, Myopathic Type

Symptoms & Phenotypes for Scapuloperoneal Syndrome, Myopathic Type

Symptoms by clinical synopsis from OMIM:

181430

Clinical features from OMIM:

181430

Human phenotypes related to Scapuloperoneal Syndrome, Myopathic Type:

32
id Description HPO Frequency HPO Source Accession
1 emg 32 HP:0003458
2 scapuloperoneal myopathy 32 HP:0009054
3 weakness of facial musculature 32 HP:0030319

UMLS symptoms related to Scapuloperoneal Syndrome, Myopathic Type:


waddling gait

Drugs & Therapeutics for Scapuloperoneal Syndrome, Myopathic Type

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

Genetic Tests for Scapuloperoneal Syndrome, Myopathic Type

Genetic tests related to Scapuloperoneal Syndrome, Myopathic Type:

id Genetic test Affiliating Genes
1 Scapuloperoneal Myopathy, Myh7-Related 29 24 MYH7

Anatomical Context for Scapuloperoneal Syndrome, Myopathic Type

Publications for Scapuloperoneal Syndrome, Myopathic Type

Variations for Scapuloperoneal Syndrome, Myopathic Type

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

66
id Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1845Trp VAR_017754 rs28933098

ClinVar genetic disease variations for Scapuloperoneal Syndrome, Myopathic Type:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh37 Chromosome 14, 23884230: 23884230
2 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
3 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743

Expression for Scapuloperoneal Syndrome, Myopathic Type

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

Pathways for Scapuloperoneal Syndrome, Myopathic Type

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.86 EMD MYH7

GO Terms for Scapuloperoneal Syndrome, Myopathic Type

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

id Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 8.62 EMD MYH7

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

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 8.62 EMD MYH7

Sources for Scapuloperoneal Syndrome, Myopathic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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