MCID: SCP010
MIFTS: 19

Scapuloperoneal Myopathy malady

Categories: Muscle diseases

Aliases & Classifications for Scapuloperoneal Myopathy

Aliases & Descriptions for Scapuloperoneal Myopathy:

Name: Scapuloperoneal Myopathy 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:0060253

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 syndrome, myopathic type. An important gene associated with Scapuloperoneal Myopathy is FHL1 (Four And A Half LIM Domains 1). Related phenotypes are behavior/neurological and 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 EMD FHL1 HPGDS PAX7 PLP1 SELENON
2 muscle MP:0005369 9.23 ACTA1 EMD 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:

id Title Authors Year
1
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
2
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. ( 25938801 )
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

GO Terms for Scapuloperoneal Myopathy

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

id Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.43 ACTA1 MYH7
2 regulation of intracellular pH GO:0051453 9.4 SLC9A6 SLC9A7
3 skeletal muscle fiber development GO:0048741 9.37 ACTA1 SELENON
4 skeletal muscle tissue regeneration GO:0043403 9.32 PAX7 SELENON
5 regulation of pH GO:0006885 9.26 SLC9A6 SLC9A7
6 sodium ion import across plasma membrane GO:0098719 9.16 SLC9A6 SLC9A7
7 muscle contraction GO:0006936 9.13 ACTA1 EMD MYH7
8 muscle organ development GO:0007517 8.8 EMD FHL1 PAX7

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

id Name GO ID Score Top Affiliating Genes
1 solute:proton antiporter activity GO:0015299 9.16 SLC9A6 SLC9A7
2 sodium:proton antiporter activity GO:0015385 8.96 SLC9A6 SLC9A7
3 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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