MCID: SCP012
MIFTS: 25

Scapuloperoneal Myopathy, Myh7-Related

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

Aliases & Classifications for Scapuloperoneal Myopathy, Myh7-Related

MalaCards integrated aliases for Scapuloperoneal Myopathy, Myh7-Related:

Name: Scapuloperoneal Myopathy, Myh7-Related 57 53 29 6
Scapuloperoneal Syndrome, Myopathic Type 57 53 13
Spmm 57 53 75
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy 53 59
Myh7-Related Late-Onset Scapuloperoneal Syndrome 53 59
Scapuloperoneal Muscular Dystrophy 57 53
Myh7-Related Late-Onset Spmd 53 59
Spmd 57 53
X-Linked Emery-Dreifuss Muscular Dystrophy 73
Scapuloperoneal Muscular Dystrophy; Spmd 57
Scapuloperoneal Syndrome Myopathic Type 75
Myopathy, Scapuloperoneal, Myh7-Related 40
Myh7-Related Scapuloperoneal Myopathy 53
Scapuloperoneal Myopathy Myh7-Related 75

Characteristics:

Orphanet epidemiological data:

59
myh7-related late-onset scapuloperoneal muscular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: Not yet documented;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
scapuloperoneal myopathy, myh7-related:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 181430
Orphanet 59 ORPHA437572
ICD10 via Orphanet 34 G71.0
SNOMED-CT via HPO 69 263681008
UMLS 73 C0751337

Summaries for Scapuloperoneal Myopathy, Myh7-Related

NIH Rare Diseases : 53 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.  

MalaCards based summary : Scapuloperoneal Myopathy, Myh7-Related, also known as scapuloperoneal syndrome, myopathic type, is related to scapuloperoneal myopathy, x-linked dominant and emery-dreifuss muscular dystrophy, and has symptoms including waddling gait An important gene associated with Scapuloperoneal Myopathy, Myh7-Related is MYH7 (Myosin Heavy Chain 7). Related phenotypes are emg and scapuloperoneal myopathy

UniProtKB/Swiss-Prot : 75 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 Myopathy, Myh7-Related

Diseases in the Scapuloperoneal Myopathy family:

Scapuloperoneal Myopathy, Myh7-Related

Diseases related to Scapuloperoneal Myopathy, Myh7-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 scapuloperoneal myopathy, x-linked dominant 11.2
2 emery-dreifuss muscular dystrophy 11.2
3 muscular dystrophy 10.3
4 telangiectasis 10.0
5 retinitis 10.0
6 myopathy 10.0
7 camptocormism 9.6 MHRT MYH7
8 myopathy, myosin storage, autosomal recessive 9.5 MHRT MYH7
9 myopathy, distal, 1 9.5 MHRT MYH7
10 myosin storage myopathy 9.4 MHRT MYH7
11 scapuloperoneal myopathy 9.3 MHRT MYH7
12 left ventricular noncompaction 9.2 MHRT MYH7
13 heart disease 9.0 MHRT MYH7

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy, Myh7-Related:



Diseases related to Scapuloperoneal Myopathy, Myh7-Related

Symptoms & Phenotypes for Scapuloperoneal Myopathy, Myh7-Related

Symptoms via clinical synopsis from OMIM:

57
Muscle:
scapuloperoneal myopathy
facial myopathy

Lab:
myopathic electromyography and muscle biopsy

Misc:
slow progression


Clinical features from OMIM:

181430

Human phenotypes related to Scapuloperoneal Myopathy, Myh7-Related:

32
# 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 Myopathy, Myh7-Related:


waddling gait

Drugs & Therapeutics for Scapuloperoneal Myopathy, Myh7-Related

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy, Myh7-Related

Genetic Tests for Scapuloperoneal Myopathy, Myh7-Related

Genetic tests related to Scapuloperoneal Myopathy, Myh7-Related:

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

Anatomical Context for Scapuloperoneal Myopathy, Myh7-Related

Publications for Scapuloperoneal Myopathy, Myh7-Related

Articles related to Scapuloperoneal Myopathy, Myh7-Related:

# Title Authors Year
1
Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks. ( 25873785 )
2014
2
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite. ( 23142638 )
2013
3
Retinal telangiectasis in scapuloperoneal muscular dystrophy. ( 1882951 )
1991

Variations for Scapuloperoneal Myopathy, Myh7-Related

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:

75
# Symbol AA change Variation ID SNP ID
1 MYH7 p.Arg1845Trp VAR_017754 rs28933098

ClinVar genetic disease variations for Scapuloperoneal Myopathy, Myh7-Related:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
2 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
3 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh37 Chromosome 14, 23884230: 23884230
4 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh38 Chromosome 14, 23415021: 23415021
5 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh37 Chromosome 14, 23896043: 23896043
6 MYH7 NM_000257.3(MYH7): c.1987C> T (p.Arg663Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516127 GRCh38 Chromosome 14, 23426834: 23426834
7 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh37 Chromosome 14, 23896042: 23896042
8 MYH7 NM_000257.3(MYH7): c.1988G> A (p.Arg663His) single nucleotide variant Pathogenic rs371898076 GRCh38 Chromosome 14, 23426833: 23426833
9 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh37 Chromosome 14, 23894525: 23894525
10 MYH7 NM_000257.3(MYH7): c.2389G> A (p.Ala797Thr) single nucleotide variant Pathogenic/Likely pathogenic rs3218716 GRCh38 Chromosome 14, 23425316: 23425316
11 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh37 Chromosome 14, 23893250: 23893250
12 MYH7 NM_000257.3(MYH7): c.2788G> C (p.Glu930Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516171 GRCh38 Chromosome 14, 23424041: 23424041
13 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh37 Chromosome 14, 23897743: 23897743
14 MYH7 NM_000257.3(MYH7): c.1544T> C (p.Met515Thr) single nucleotide variant Likely pathogenic rs863224900 GRCh38 Chromosome 14, 23428534: 23428534

Expression for Scapuloperoneal Myopathy, Myh7-Related

Search GEO for disease gene expression data for Scapuloperoneal Myopathy, Myh7-Related.

Pathways for Scapuloperoneal Myopathy, Myh7-Related

GO Terms for Scapuloperoneal Myopathy, Myh7-Related

Sources for Scapuloperoneal Myopathy, Myh7-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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