MCID: SCP010
MIFTS: 20

Scapuloperoneal Myopathy

Categories: Muscle diseases

Aliases & Classifications for Scapuloperoneal Myopathy

MalaCards integrated aliases for Scapuloperoneal Myopathy:

Name: Scapuloperoneal Myopathy 12 36 69 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0060253
KEGG 36 H00656
UMLS 69 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, x-linked dominant and scapuloperoneal myopathy, myh7-related. 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ACTA1 FHL1 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

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:

36
# 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 recycling endosome membrane GO:0055038 9.16 SLC9A6 SLC9A7
2 sarcomere GO:0030017 8.96 ACTA1 MYH7
3 stress fiber GO:0001725 8.62 ACTA1 MYH7

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

# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.26 ACTA1 MYH7
2 regulation of intracellular pH GO:0051453 9.16 SLC9A6 SLC9A7
3 regulation of pH GO:0006885 8.96 SLC9A6 SLC9A7
4 sodium ion import across plasma membrane GO:0098719 8.62 SLC9A6 SLC9A7

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

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.26 SLC9A6 SLC9A7
2 solute:proton antiporter activity GO:0015299 9.16 SLC9A6 SLC9A7
3 sodium:proton antiporter activity GO:0015385 8.96 SLC9A6 SLC9A7
4 potassium:proton antiporter activity GO:0015386 8.62 SLC9A6 SLC9A7

Sources for Scapuloperoneal Myopathy

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