MCID: SCP010
MIFTS: 28

Scapuloperoneal Myopathy

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

Aliases & Classifications for Scapuloperoneal Myopathy

MalaCards integrated aliases for Scapuloperoneal Myopathy:

Name: Scapuloperoneal Myopathy 12 37 6 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0060253
KEGG 37 H00656
UMLS 73 C2931268

Summaries for Scapuloperoneal Myopathy

Disease Ontology : 12 A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.

MalaCards based summary : Scapuloperoneal Myopathy is related to scapuloperoneal myopathy, myh7-related and scapuloperoneal myopathy, x-linked dominant. An important gene associated with Scapuloperoneal Myopathy is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction. Affiliated tissues include heart, and related phenotype is muscle.

Related Diseases for Scapuloperoneal Myopathy

Graphical network of the top 20 diseases related to Scapuloperoneal Myopathy:



Diseases related to Scapuloperoneal Myopathy

Symptoms & Phenotypes for Scapuloperoneal Myopathy

MGI Mouse Phenotypes related to Scapuloperoneal Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 ACTA1 FHL1 MYH6 MYH7 NFATC1 PAX7

Drugs & Therapeutics for Scapuloperoneal Myopathy

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Myopathy

Genetic Tests for Scapuloperoneal Myopathy

Anatomical Context for Scapuloperoneal Myopathy

MalaCards organs/tissues related to Scapuloperoneal Myopathy:

41
Heart

Publications for Scapuloperoneal Myopathy

Articles related to Scapuloperoneal Myopathy:

# Title Authors Year
1
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. ( 25938801 )
2015
2
Redundant Information in Text and Incorrect Reference. Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. ( 26258744 )
2015
3
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. ( 20633900 )
2010
4
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. ( 18179901 )
2008
5
Familial scapuloperoneal myopathy and mitochondrial DNA defect. ( 10567817 )
1999
6
Adult onset scapuloperoneal myopathy: diagnostic value of nerve morphometry and multiple muscle biopsies. ( 3404187 )
1988
7
Scapuloperoneal myopathy. ( 6568938 )
1984
8
Adult onset scapuloperoneal myopathy. ( 1202162 )
1975

Variations for Scapuloperoneal Myopathy

ClinVar genetic disease variations for Scapuloperoneal Myopathy:

6 (show top 50) (show all 185)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.77C> T (p.Ala26Val) single nucleotide variant Benign rs186964570 GRCh37 Chromosome 14, 23902865: 23902865
2 MYH7 NM_000257.3(MYH7): c.77C> T (p.Ala26Val) single nucleotide variant Benign rs186964570 GRCh38 Chromosome 14, 23433656: 23433656
3 MYH7 NM_000257.3(MYH7): c.1000-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200129563 GRCh37 Chromosome 14, 23899129: 23899129
4 MYH7 NM_000257.3(MYH7): c.1000-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200129563 GRCh38 Chromosome 14, 23429920: 23429920
5 MYH7 NM_000257.3(MYH7): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs34803781 GRCh37 Chromosome 14, 23899120: 23899120
6 MYH7 NM_000257.3(MYH7): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs34803781 GRCh38 Chromosome 14, 23429911: 23429911
7 MYH7 NM_000257.3(MYH7): c.1062C> T (p.Gly354=) single nucleotide variant Benign rs735712 GRCh37 Chromosome 14, 23899060: 23899060
8 MYH7 NM_000257.3(MYH7): c.1062C> T (p.Gly354=) single nucleotide variant Benign rs735712 GRCh38 Chromosome 14, 23429851: 23429851
9 MYH7 NM_000257.3(MYH7): c.1095G> A (p.Lys365=) single nucleotide variant Benign rs735711 GRCh37 Chromosome 14, 23899027: 23899027
10 MYH7 NM_000257.3(MYH7): c.1095G> A (p.Lys365=) single nucleotide variant Benign rs735711 GRCh38 Chromosome 14, 23429818: 23429818
11 MYH7 NM_000257.3(MYH7): c.1128C> T (p.Asp376=) single nucleotide variant Benign rs2231126 GRCh37 Chromosome 14, 23898994: 23898994
12 MYH7 NM_000257.3(MYH7): c.1128C> T (p.Asp376=) single nucleotide variant Benign rs2231126 GRCh38 Chromosome 14, 23429785: 23429785
13 MYH7 NM_000257.3(MYH7): c.1191G> A (p.Lys397=) single nucleotide variant Conflicting interpretations of pathogenicity rs139506719 GRCh37 Chromosome 14, 23898504: 23898504
14 MYH7 NM_000257.3(MYH7): c.1191G> A (p.Lys397=) single nucleotide variant Conflicting interpretations of pathogenicity rs139506719 GRCh38 Chromosome 14, 23429295: 23429295
15 MYH7 NM_000257.3(MYH7): c.1605A> G (p.Glu535=) single nucleotide variant Benign rs2069543 GRCh37 Chromosome 14, 23897077: 23897077
16 MYH7 NM_000257.3(MYH7): c.1605A> G (p.Glu535=) single nucleotide variant Benign rs2069543 GRCh38 Chromosome 14, 23427868: 23427868
17 MYH7 NM_000257.3(MYH7): c.1755C> A (p.Ile585=) single nucleotide variant Likely benign rs201860580 GRCh37 Chromosome 14, 23896927: 23896927
18 MYH7 NM_000257.3(MYH7): c.1755C> A (p.Ile585=) single nucleotide variant Likely benign rs201860580 GRCh38 Chromosome 14, 23427718: 23427718
19 MYH7 NM_000257.3(MYH7): c.1767C> T (p.Asn589=) single nucleotide variant Benign rs3729816 GRCh37 Chromosome 14, 23896915: 23896915
20 MYH7 NM_000257.3(MYH7): c.1767C> T (p.Asn589=) single nucleotide variant Benign rs3729816 GRCh38 Chromosome 14, 23427706: 23427706
21 MYH7 NM_000257.3(MYH7): c.1888+8G> T single nucleotide variant Likely benign rs200668471 GRCh37 Chromosome 14, 23896786: 23896786
22 MYH7 NM_000257.3(MYH7): c.1888+8G> T single nucleotide variant Likely benign rs200668471 GRCh38 Chromosome 14, 23427577: 23427577
23 MYH7 NM_000257.3(MYH7): c.189C> T (p.Thr63=) single nucleotide variant Benign rs2069540 GRCh37 Chromosome 14, 23902753: 23902753
24 MYH7 NM_000257.3(MYH7): c.189C> T (p.Thr63=) single nucleotide variant Benign rs2069540 GRCh38 Chromosome 14, 23433544: 23433544
25 MYH7 NM_000257.3(MYH7): c.1983C> T (p.Asn661=) single nucleotide variant Conflicting interpretations of pathogenicity rs146474860 GRCh37 Chromosome 14, 23896047: 23896047
26 MYH7 NM_000257.3(MYH7): c.1983C> T (p.Asn661=) single nucleotide variant Conflicting interpretations of pathogenicity rs146474860 GRCh38 Chromosome 14, 23426838: 23426838
27 MYH7 NM_000257.3(MYH7): c.2349C> T (p.Arg783=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882431 GRCh37 Chromosome 14, 23894565: 23894565
28 MYH7 NM_000257.3(MYH7): c.2349C> T (p.Arg783=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882431 GRCh38 Chromosome 14, 23425356: 23425356
29 MYH7 NM_000257.3(MYH7): c.2360G> A (p.Arg787His) single nucleotide variant Uncertain significance rs376754645 GRCh37 Chromosome 14, 23894554: 23894554
30 MYH7 NM_000257.3(MYH7): c.2360G> A (p.Arg787His) single nucleotide variant Uncertain significance rs376754645 GRCh38 Chromosome 14, 23425345: 23425345
31 MYH7 NM_000257.3(MYH7): c.2769C> T (p.Asn923=) single nucleotide variant Benign rs36211716 GRCh37 Chromosome 14, 23893269: 23893269
32 MYH7 NM_000257.3(MYH7): c.2769C> T (p.Asn923=) single nucleotide variant Benign rs36211716 GRCh38 Chromosome 14, 23424060: 23424060
33 MYH7 NM_000257.3(MYH7): c.2890G> C (p.Val964Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45496496 GRCh37 Chromosome 14, 23893148: 23893148
34 MYH7 NM_000257.3(MYH7): c.2890G> C (p.Val964Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45496496 GRCh38 Chromosome 14, 23423939: 23423939
35 MYH7 NM_000257.3(MYH7): c.2890G> C (p.Val964Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45496496 NCBI36 Chromosome 14, 22962988: 22962988
36 MYH7 NM_000257.3(MYH7): c.2945T> C (p.Met982Thr) single nucleotide variant Benign rs145532615 GRCh37 Chromosome 14, 23892910: 23892910
37 MYH7 NM_000257.3(MYH7): c.2945T> C (p.Met982Thr) single nucleotide variant Benign rs145532615 GRCh38 Chromosome 14, 23423701: 23423701
38 MYH7 NM_000257.3(MYH7): c.2967T> C (p.Ile989=) single nucleotide variant Benign rs7157716 GRCh37 Chromosome 14, 23892888: 23892888
39 MYH7 NM_000257.3(MYH7): c.2967T> C (p.Ile989=) single nucleotide variant Benign rs7157716 GRCh38 Chromosome 14, 23423679: 23423679
40 MYH7 NM_000257.3(MYH7): c.297C> T (p.Pro99=) single nucleotide variant Benign rs140245862 GRCh37 Chromosome 14, 23902341: 23902341
41 MYH7 NM_000257.3(MYH7): c.297C> T (p.Pro99=) single nucleotide variant Benign rs140245862 GRCh38 Chromosome 14, 23433132: 23433132
42 MYH7 NM_000257.3(MYH7): c.3036C> T (p.Ala1012=) single nucleotide variant Benign rs145379951 GRCh37 Chromosome 14, 23892819: 23892819
43 MYH7 NM_000257.3(MYH7): c.3036C> T (p.Ala1012=) single nucleotide variant Benign rs145379951 GRCh38 Chromosome 14, 23423610: 23423610
44 MYH7 NM_000257.3(MYH7): c.3156G> A (p.Lys1052=) single nucleotide variant Benign rs138294643 GRCh37 Chromosome 14, 23891478: 23891478
45 MYH7 NM_000257.3(MYH7): c.3156G> A (p.Lys1052=) single nucleotide variant Benign rs138294643 GRCh38 Chromosome 14, 23422269: 23422269
46 MYH7 NM_000257.3(MYH7): c.3337-3dupC duplication Benign rs45504498 GRCh37 Chromosome 14, 23889446: 23889446
47 MYH7 NM_000257.3(MYH7): c.3337-3dupC duplication Benign rs45504498 GRCh38 Chromosome 14, 23420237: 23420237
48 MYH7 NM_000257.3(MYH7): c.3351G> A (p.Glu1117=) single nucleotide variant Benign rs45554236 GRCh37 Chromosome 14, 23889429: 23889429
49 MYH7 NM_000257.3(MYH7): c.3351G> A (p.Glu1117=) single nucleotide variant Benign rs45554236 GRCh38 Chromosome 14, 23420220: 23420220
50 MYH7 NM_000257.3(MYH7): c.3853+7C> T single nucleotide variant Benign rs45467397 GRCh37 Chromosome 14, 23888685: 23888685

Expression for Scapuloperoneal Myopathy

Search GEO for disease gene expression data for Scapuloperoneal Myopathy.

Pathways for Scapuloperoneal Myopathy

Pathways related to Scapuloperoneal Myopathy according to KEGG:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260
2 Tight junction hsa04530

GO Terms for Scapuloperoneal Myopathy

Cellular components related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin filament GO:0032982 9.26 MYH6 MYH7
2 muscle myosin complex GO:0005859 9.16 MYH6 MYH7
3 sarcomere GO:0030017 9.13 ACTA1 MYH6 MYH7
4 stress fiber GO:0001725 8.8 ACTA1 MYH6 MYH7

Biological processes related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.54 ACTA1 MYH6 MYH7
2 ATP metabolic process GO:0046034 9.52 MYH6 MYH7
3 regulation of heart rate GO:0002027 9.51 MYH6 MYH7
4 regulation of intracellular pH GO:0051453 9.49 SLC9A6 SLC9A7
5 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.48 MYH6 MYH7
6 regulation of pH GO:0006885 9.46 SLC9A6 SLC9A7
7 regulation of the force of heart contraction GO:0002026 9.43 MYH6 MYH7
8 striated muscle contraction GO:0006941 9.4 MYH6 MYH7
9 adult heart development GO:0007512 9.32 MYH6 MYH7
10 cardiac muscle hypertrophy in response to stress GO:0014898 9.26 MYH6 MYH7
11 sodium ion import across plasma membrane GO:0098719 9.16 SLC9A6 SLC9A7
12 transition between fast and slow fiber GO:0014883 8.96 MIR208B MYH7
13 muscle filament sliding GO:0030049 8.8 ACTA1 MYH6 MYH7

Molecular functions related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.54 ARPC1A MYH6 MYH7
2 microfilament motor activity GO:0000146 9.32 MYH6 MYH7
3 solute:proton antiporter activity GO:0015299 9.26 SLC9A6 SLC9A7
4 sodium:proton antiporter activity GO:0015385 9.16 SLC9A6 SLC9A7
5 actin-dependent ATPase activity GO:0030898 8.96 MYH6 MYH7
6 potassium:proton antiporter activity GO:0015386 8.62 SLC9A6 SLC9A7

Sources for Scapuloperoneal Myopathy

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
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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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