MCID: SCP010
MIFTS: 27

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 38 6 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0060253
KEGG 38 H00656
UMLS 74 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. 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:

47
# 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

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.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh37 Chromosome 14, 23891399: 23891399
2 MYH7 NM_000257.3(MYH7): c.3235C> T (p.Arg1079Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs192722540 GRCh38 Chromosome 14, 23422190: 23422190
3 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh37 Chromosome 14, 23883032: 23883032
4 MYH7 NM_000257.3(MYH7): c.5726G> A (p.Arg1909Gln) single nucleotide variant Uncertain significance rs397516253 GRCh38 Chromosome 14, 23413823: 23413823
5 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh38 Chromosome 14, 23414056: 23414056
6 MYH7 NM_000257.3(MYH7): c.5606A> G (p.Asp1869Gly) single nucleotide variant Uncertain significance rs730880824 GRCh37 Chromosome 14, 23883265: 23883265
7 MYH7 NM_000257.3(MYH7): c.2526T> C (p.Ser842=) single nucleotide variant Benign/Likely benign rs554560162 GRCh38 Chromosome 14, 23424922: 23424922
8 MYH7 NM_000257.3(MYH7): c.2526T> C (p.Ser842=) single nucleotide variant Benign/Likely benign rs554560162 GRCh37 Chromosome 14, 23894131: 23894131
9 MYH7 NM_000257.3(MYH7): c.153C> T (p.Ile51=) single nucleotide variant Benign/Likely benign rs373145667 GRCh37 Chromosome 14, 23902789: 23902789
10 MYH7 NM_000257.3(MYH7): c.153C> T (p.Ile51=) single nucleotide variant Benign/Likely benign rs373145667 GRCh38 Chromosome 14, 23433580: 23433580
11 MYH7 NM_000257.3(MYH7): c.*20G> A single nucleotide variant Benign/Likely benign rs45548631 GRCh38 Chromosome 14, 23412834: 23412834
12 MYH7 NM_000257.3(MYH7): c.*20G> A single nucleotide variant Benign/Likely benign rs45548631 GRCh37 Chromosome 14, 23882043: 23882043
13 MYH7 NM_000257.4(MYH7): c.3770A> G (p.Asn1257Ser) single nucleotide variant Benign rs574005462 GRCh37 Chromosome 14, 23888775: 23888775
14 MYH7 NM_000257.4(MYH7): c.3770A> G (p.Asn1257Ser) single nucleotide variant Benign rs574005462 GRCh38 Chromosome 14, 23419566: 23419566
15 MYH7 NM_000257.3(MYH7): c.4321G> T (p.Ala1441Ser) single nucleotide variant Uncertain significance rs745414245 GRCh38 Chromosome 14, 23417535: 23417535
16 MYH7 NM_000257.3(MYH7): c.4321G> T (p.Ala1441Ser) single nucleotide variant Uncertain significance rs745414245 GRCh37 Chromosome 14, 23886744: 23886744
17 MYH7 NM_000257.4(MYH7): c.77C> T (p.Ala26Val) single nucleotide variant Benign rs186964570 GRCh37 Chromosome 14, 23902865: 23902865
18 MYH7 NM_000257.4(MYH7): c.77C> T (p.Ala26Val) single nucleotide variant Benign rs186964570 GRCh38 Chromosome 14, 23433656: 23433656
19 MYH7 NM_000257.3(MYH7): c.1000-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200129563 GRCh37 Chromosome 14, 23899129: 23899129
20 MYH7 NM_000257.3(MYH7): c.1000-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200129563 GRCh38 Chromosome 14, 23429920: 23429920
21 MYH7 NM_000257.4(MYH7): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs34803781 GRCh37 Chromosome 14, 23899120: 23899120
22 MYH7 NM_000257.4(MYH7): c.1002C> T (p.Asn334=) single nucleotide variant Benign rs34803781 GRCh38 Chromosome 14, 23429911: 23429911
23 MYH7 NM_000257.4(MYH7): c.1062C> T (p.Gly354=) single nucleotide variant Benign rs735712 GRCh37 Chromosome 14, 23899060: 23899060
24 MYH7 NM_000257.4(MYH7): c.1062C> T (p.Gly354=) single nucleotide variant Benign rs735712 GRCh38 Chromosome 14, 23429851: 23429851
25 MYH7 NM_000257.4(MYH7): c.1095G> A (p.Lys365=) single nucleotide variant Benign rs735711 GRCh37 Chromosome 14, 23899027: 23899027
26 MYH7 NM_000257.4(MYH7): c.1095G> A (p.Lys365=) single nucleotide variant Benign rs735711 GRCh38 Chromosome 14, 23429818: 23429818
27 MYH7 NM_000257.4(MYH7): c.1128C> T (p.Asp376=) single nucleotide variant Benign rs2231126 GRCh37 Chromosome 14, 23898994: 23898994
28 MYH7 NM_000257.4(MYH7): c.1128C> T (p.Asp376=) single nucleotide variant Benign rs2231126 GRCh38 Chromosome 14, 23429785: 23429785
29 MYH7 NM_000257.3(MYH7): c.1191G> A (p.Lys397=) single nucleotide variant Conflicting interpretations of pathogenicity rs139506719 GRCh37 Chromosome 14, 23898504: 23898504
30 MYH7 NM_000257.3(MYH7): c.1191G> A (p.Lys397=) single nucleotide variant Conflicting interpretations of pathogenicity rs139506719 GRCh38 Chromosome 14, 23429295: 23429295
31 MYH7 NM_000257.4(MYH7): c.1605A> G (p.Glu535=) single nucleotide variant Benign rs2069543 GRCh37 Chromosome 14, 23897077: 23897077
32 MYH7 NM_000257.4(MYH7): c.1605A> G (p.Glu535=) single nucleotide variant Benign rs2069543 GRCh38 Chromosome 14, 23427868: 23427868
33 MYH7 NM_000257.3(MYH7): c.1755C> A (p.Ile585=) single nucleotide variant Likely benign rs201860580 GRCh37 Chromosome 14, 23896927: 23896927
34 MYH7 NM_000257.3(MYH7): c.1755C> A (p.Ile585=) single nucleotide variant Likely benign rs201860580 GRCh38 Chromosome 14, 23427718: 23427718
35 MYH7 NM_000257.4(MYH7): c.1767C> T (p.Asn589=) single nucleotide variant Benign rs3729816 GRCh37 Chromosome 14, 23896915: 23896915
36 MYH7 NM_000257.4(MYH7): c.1767C> T (p.Asn589=) single nucleotide variant Benign rs3729816 GRCh38 Chromosome 14, 23427706: 23427706
37 MYH7 NM_000257.3(MYH7): c.1888+8G> T single nucleotide variant Likely benign rs200668471 GRCh37 Chromosome 14, 23896786: 23896786
38 MYH7 NM_000257.3(MYH7): c.1888+8G> T single nucleotide variant Likely benign rs200668471 GRCh38 Chromosome 14, 23427577: 23427577
39 MYH7 NM_000257.4(MYH7): c.189C> T (p.Thr63=) single nucleotide variant Benign rs2069540 GRCh37 Chromosome 14, 23902753: 23902753
40 MYH7 NM_000257.4(MYH7): c.189C> T (p.Thr63=) single nucleotide variant Benign rs2069540 GRCh38 Chromosome 14, 23433544: 23433544
41 MYH7 NM_000257.3(MYH7): c.1983C> T (p.Asn661=) single nucleotide variant Conflicting interpretations of pathogenicity rs146474860 GRCh37 Chromosome 14, 23896047: 23896047
42 MYH7 NM_000257.3(MYH7): c.1983C> T (p.Asn661=) single nucleotide variant Conflicting interpretations of pathogenicity rs146474860 GRCh38 Chromosome 14, 23426838: 23426838
43 MYH7 NM_000257.3(MYH7): c.2349C> T (p.Arg783=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882431 GRCh37 Chromosome 14, 23894565: 23894565
44 MYH7 NM_000257.3(MYH7): c.2349C> T (p.Arg783=) single nucleotide variant Conflicting interpretations of pathogenicity rs139882431 GRCh38 Chromosome 14, 23425356: 23425356
45 MYH7 NM_000257.4(MYH7): c.2360G> A (p.Arg787His) single nucleotide variant Uncertain significance rs376754645 GRCh37 Chromosome 14, 23894554: 23894554
46 MYH7 NM_000257.4(MYH7): c.2360G> A (p.Arg787His) single nucleotide variant Uncertain significance rs376754645 GRCh38 Chromosome 14, 23425345: 23425345
47 MYH7 NM_000257.4(MYH7): c.2769C> T (p.Asn923=) single nucleotide variant Benign rs36211716 GRCh37 Chromosome 14, 23893269: 23893269
48 MYH7 NM_000257.4(MYH7): c.2769C> T (p.Asn923=) single nucleotide variant Benign rs36211716 GRCh38 Chromosome 14, 23424060: 23424060
49 MYH7 NM_000257.3(MYH7): c.2890G> C (p.Val964Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45496496 GRCh37 Chromosome 14, 23893148: 23893148
50 MYH7 NM_000257.3(MYH7): c.2890G> C (p.Val964Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45496496 GRCh38 Chromosome 14, 23423939: 23423939

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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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