MCID: SCP010
MIFTS: 25

Scapuloperoneal Myopathy

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

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 94)
# 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 Likely benign rs45548631 GRCh38 Chromosome 14, 23412834: 23412834
12 MYH7 NM_000257.3(MYH7): c.*20G> A single nucleotide variant Likely benign rs45548631 GRCh37 Chromosome 14, 23882043: 23882043
13 MYH7 NM_000257.3(MYH7): c.3770A> G (p.Asn1257Ser) single nucleotide variant Benign rs574005462 GRCh37 Chromosome 14, 23888775: 23888775
14 MYH7 NM_000257.3(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_000257.3(MYH7): c.733-3C> T single nucleotide variant Uncertain significance rs765068619 GRCh38 Chromosome 14, 23431484: 23431484
18 MYH7 NM_000257.3(MYH7): c.733-3C> T single nucleotide variant Uncertain significance rs765068619 GRCh37 Chromosome 14, 23900693: 23900693
19 MYH7 NM_000257.3(MYH7): c.895+12C> A single nucleotide variant Uncertain significance rs186276057 GRCh37 Chromosome 14, 23900098: 23900098
20 MYH7 NM_000257.3(MYH7): c.895+12C> A single nucleotide variant Uncertain significance rs186276057 GRCh38 Chromosome 14, 23430889: 23430889
21 MYH7 NM_000257.3(MYH7): c.*105T> C single nucleotide variant Likely benign rs200550717 GRCh37 Chromosome 14, 23881958: 23881958
22 MYH7 NM_000257.3(MYH7): c.*105T> C single nucleotide variant Likely benign rs200550717 GRCh38 Chromosome 14, 23412749: 23412749
23 MYH7 NM_000257.3(MYH7): c.4908C> T (p.Ala1636=) single nucleotide variant Uncertain significance rs150241539 GRCh38 Chromosome 14, 23416049: 23416049
24 MYH7 NM_000257.3(MYH7): c.4908C> T (p.Ala1636=) single nucleotide variant Uncertain significance rs150241539 GRCh37 Chromosome 14, 23885258: 23885258
25 MYH7 NM_000257.3(MYH7): c.4410G> A (p.Ser1470=) single nucleotide variant Likely benign rs578166720 GRCh38 Chromosome 14, 23417262: 23417262
26 MYH7 NM_000257.3(MYH7): c.4410G> A (p.Ser1470=) single nucleotide variant Likely benign rs578166720 GRCh37 Chromosome 14, 23886471: 23886471
27 MYH7 NM_000257.3(MYH7): c.4158C> T (p.Leu1386=) single nucleotide variant Conflicting interpretations of pathogenicity rs886050418 GRCh37 Chromosome 14, 23887430: 23887430
28 MYH7 NM_000257.3(MYH7): c.4158C> T (p.Leu1386=) single nucleotide variant Conflicting interpretations of pathogenicity rs886050418 GRCh38 Chromosome 14, 23418221: 23418221
29 MYH7 NM_000257.3(MYH7): c.3148C> A (p.Arg1050=) single nucleotide variant Uncertain significance rs730880767 GRCh37 Chromosome 14, 23891486: 23891486
30 MYH7 NM_000257.3(MYH7): c.3148C> A (p.Arg1050=) single nucleotide variant Uncertain significance rs730880767 GRCh38 Chromosome 14, 23422277: 23422277
31 MYH7 NM_000257.3(MYH7): c.2692C> T (p.Leu898=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504407 GRCh37 Chromosome 14, 23893346: 23893346
32 MYH7 NM_000257.3(MYH7): c.2692C> T (p.Leu898=) single nucleotide variant Conflicting interpretations of pathogenicity rs727504407 GRCh38 Chromosome 14, 23424137: 23424137
33 MYH7 NM_000257.3(MYH7): c.-39C> A single nucleotide variant Uncertain significance rs886050424 GRCh38 Chromosome 14, 23434224: 23434224
34 MYH7 NM_000257.3(MYH7): c.-39C> A single nucleotide variant Uncertain significance rs886050424 GRCh37 Chromosome 14, 23903433: 23903433
35 MYH7 NM_000257.3(MYH7): c.5482G> A (p.Ala1828Thr) single nucleotide variant Uncertain significance rs886050415 GRCh38 Chromosome 14, 23415072: 23415072
36 MYH7 NM_000257.3(MYH7): c.5482G> A (p.Ala1828Thr) single nucleotide variant Uncertain significance rs886050415 GRCh37 Chromosome 14, 23884281: 23884281
37 MYH7 NM_000257.3(MYH7): c.5394C> T (p.Asp1798=) single nucleotide variant Uncertain significance rs777053791 GRCh38 Chromosome 14, 23415160: 23415160
38 MYH7 NM_000257.3(MYH7): c.5394C> T (p.Asp1798=) single nucleotide variant Uncertain significance rs777053791 GRCh37 Chromosome 14, 23884369: 23884369
39 MYH7 NM_000257.3(MYH7): c.4169+6T> G single nucleotide variant Uncertain significance rs886050417 GRCh37 Chromosome 14, 23887413: 23887413
40 MYH7 NM_000257.3(MYH7): c.4169+6T> G single nucleotide variant Uncertain significance rs886050417 GRCh38 Chromosome 14, 23418204: 23418204
41 MYH7 NM_000257.3(MYH7): c.2968G> A (p.Ala990Thr) single nucleotide variant Uncertain significance rs753137666 GRCh37 Chromosome 14, 23892887: 23892887
42 MYH7 NM_000257.3(MYH7): c.2968G> A (p.Ala990Thr) single nucleotide variant Uncertain significance rs753137666 GRCh38 Chromosome 14, 23423678: 23423678
43 MYH7 NM_000257.3(MYH7): c.2922+6G> C single nucleotide variant Uncertain significance rs781192476 GRCh37 Chromosome 14, 23893110: 23893110
44 MYH7 NM_000257.3(MYH7): c.2922+6G> C single nucleotide variant Uncertain significance rs781192476 GRCh38 Chromosome 14, 23423901: 23423901
45 MYH7 NM_000257.3(MYH7): c.2028T> C (p.Asn676=) single nucleotide variant Conflicting interpretations of pathogenicity rs145564868 GRCh37 Chromosome 14, 23896002: 23896002
46 MYH7 NM_000257.3(MYH7): c.2028T> C (p.Asn676=) single nucleotide variant Conflicting interpretations of pathogenicity rs145564868 GRCh38 Chromosome 14, 23426793: 23426793
47 MYH7 NM_000257.3(MYH7): c.1179C> T (p.Ala393=) single nucleotide variant Likely benign rs143293426 GRCh37 Chromosome 14, 23898516: 23898516
48 MYH7 NM_000257.3(MYH7): c.1179C> T (p.Ala393=) single nucleotide variant Likely benign rs143293426 GRCh38 Chromosome 14, 23429307: 23429307
49 MYH7 NM_000257.3(MYH7): c.1000-13G> T single nucleotide variant Uncertain significance rs772831757 GRCh38 Chromosome 14, 23429926: 23429926
50 MYH7 NM_000257.3(MYH7): c.1000-13G> T single nucleotide variant Uncertain significance rs772831757 GRCh37 Chromosome 14, 23899135: 23899135

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

Pathways related to Scapuloperoneal Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.69 MYH6 MYH7 SLC9A6
2 10.68 ACTA1 MYH6 MYH7

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 myofibril GO:0030016 9.32 MYH6 MYH7
2 muscle myosin complex GO:0005859 9.26 MYH6 MYH7
3 myosin filament GO:0032982 9.16 MYH6 MYH7
4 stress fiber GO:0001725 9.13 ACTA1 MYH6 MYH7
5 sarcomere GO:0030017 8.8 ACTA1 MYH6 MYH7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.54 MYH6 MYH7
2 ATP metabolic process GO:0046034 9.52 MYH6 MYH7
3 regulation of intracellular pH GO:0051453 9.51 SLC9A6 SLC9A7
4 regulation of heart rate GO:0002027 9.49 MYH6 MYH7
5 striated muscle contraction GO:0006941 9.48 MYH6 MYH7
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.46 MYH6 MYH7
7 regulation of pH GO:0006885 9.43 SLC9A6 SLC9A7
8 muscle contraction GO:0006936 9.43 ACTA1 MYH6 MYH7
9 regulation of the force of heart contraction GO:0002026 9.4 MYH6 MYH7
10 adult heart development GO:0007512 9.37 MYH6 MYH7
11 sodium ion import across plasma membrane GO:0098719 9.32 SLC9A6 SLC9A7
12 cardiac muscle hypertrophy in response to stress GO:0014898 9.16 MYH6 MYH7
13 transition between fast and slow fiber GO:0014883 8.96 MIR208B MYH7
14 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 microfilament motor activity GO:0000146 9.32 MYH6 MYH7
2 solute:proton antiporter activity GO:0015299 9.26 SLC9A6 SLC9A7
3 sodium:proton antiporter activity GO:0015385 9.16 SLC9A6 SLC9A7
4 actin-dependent ATPase activity GO:0030898 8.96 MYH6 MYH7
5 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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