MCID: CNG032
MIFTS: 24

Congenital Structural Myopathy

Categories: Muscle diseases

Aliases & Classifications for Congenital Structural Myopathy

MalaCards integrated aliases for Congenital Structural Myopathy:

Name: Congenital Structural Myopathy 12 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:422
MeSH 44 D020914
NCIt 50 C84648
UMLS 72 C0752282

Summaries for Congenital Structural Myopathy

MalaCards based summary : Congenital Structural Myopathy is related to nemaline myopathy and centronuclear myopathy, and has symptoms including muscle weakness, myalgia and muscle cramp. An important gene associated with Congenital Structural Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Cardiac conduction and Dilated cardiomyopathy (DCM). Related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Congenital Structural Myopathy

Diseases related to Congenital Structural Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 27.5 TPM3 TPM2 TNNT1 NEB LMOD3 KLHL41
2 centronuclear myopathy 11.4
3 foot drop 10.5 NEB ACTA1
4 arthrogryposis, distal, type 1a 10.3 TPM2 RYR1
5 congenital contractures 10.3 RYR1 LMOD3
6 multiple pterygium syndrome, lethal type 10.3 RYR1 NEB
7 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.3 TPM3 TPM2
8 multiminicore disease 10.2 SELENON RYR1
9 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 RYR2 RYR1
10 nemaline myopathy 2 10.2 TPM3 NEB
11 cardiac conduction defect 10.1 RYR2 RYR1
12 cap myopathy 10.1 TPM3 TPM2 ACTA1
13 rigid spine muscular dystrophy 1 10.0 SELENON RYR1 ACTA1
14 myopathy, tubular aggregate, 1 9.9 RYR1 ACTA1
15 malignant hyperthermia 9.9 RYR2 RYR1
16 myopathy, congenital, with fiber-type disproportion 9.7 TPM3 SELENON RYR1 ACTA1
17 muscular dystrophy 9.7 SELENON RYR1 NEB ACTA1
18 intermediate congenital nemaline myopathy 9.7 TPM3 NEB KLHL41 ACTA1
19 central core disease of muscle 9.6 SELENON RYR2 RYR1 NEB
20 central core myopathy 9.5 SELENON RYR2 RYR1 KBTBD13
21 severe congenital nemaline myopathy 9.3 NEB LMOD3 KLHL41 KLHL40 ACTA1
22 childhood-onset nemaline myopathy 9.0 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
23 congenital fiber-type disproportion 9.0 TPM3 TPM2 SELENON RYR1 CFL2 ACTA1
24 typical congenital nemaline myopathy 8.9 TPM2 NEB LMOD3 KLHL41 CFL2 ACTA1
25 myopathy, congenital 8.7 TPM3 TNNT1 SELENON RYR1 NEB ACTA1
26 muscular disease 8.4 TPM3 TPM2 SELENON RYR2 RYR1 NEB
27 myopathy 7.0 TPM3 TPM2 TNNT1 SELENON RYR1 NEB

Graphical network of the top 20 diseases related to Congenital Structural Myopathy:



Diseases related to Congenital Structural Myopathy

Symptoms & Phenotypes for Congenital Structural Myopathy

UMLS symptoms related to Congenital Structural Myopathy:


muscle weakness, myalgia, muscle cramp, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Congenital Structural Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.76 ACTA1 CFL2 KLHL41 LMOD3 NEB RYR1
2 growth/size/body region MP:0005378 9.61 ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB
3 muscle MP:0005369 9.36 ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB

Drugs & Therapeutics for Congenital Structural Myopathy

Search Clinical Trials , NIH Clinical Center for Congenital Structural Myopathy

Genetic Tests for Congenital Structural Myopathy

Anatomical Context for Congenital Structural Myopathy

Publications for Congenital Structural Myopathy

Variations for Congenital Structural Myopathy

Expression for Congenital Structural Myopathy

Search GEO for disease gene expression data for Congenital Structural Myopathy.

Pathways for Congenital Structural Myopathy

GO Terms for Congenital Structural Myopathy

Cellular components related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.87 TPM3 TPM2 NEB LMOD3 KLHL41 CFL2
2 actin filament GO:0005884 9.63 TPM3 TPM2 ACTA1
3 sarcomere GO:0030017 9.61 RYR2 NEB ACTA1
4 sarcoplasmic reticulum GO:0016529 9.58 RYR2 RYR1 KLHL41
5 myofibril GO:0030016 9.57 NEB LMOD3
6 Cul3-RING ubiquitin ligase complex GO:0031463 9.56 KLHL41 KLHL40
7 M band GO:0031430 9.55 LMOD3 KLHL41
8 smooth endoplasmic reticulum GO:0005790 9.54 RYR2 RYR1
9 calcium channel complex GO:0034704 9.52 RYR2 RYR1
10 striated muscle thin filament GO:0005865 9.51 LMOD3 ACTA1
11 A band GO:0031672 9.49 LMOD3 KLHL40
12 junctional sarcoplasmic reticulum membrane GO:0014701 9.48 RYR2 RYR1
13 Z disc GO:0030018 9.46 RYR2 RYR1 NEB CFL2
14 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR2 RYR1 KLHL41
15 muscle thin filament tropomyosin GO:0005862 9.37 TPM3 TPM2
16 I band GO:0031674 9.13 RYR1 KLHL40 CFL2
17 actin cytoskeleton GO:0015629 9.02 TPM3 TPM2 NEB CFL2 ACTA1

Biological processes related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 actin filament organization GO:0007015 9.63 TPM3 TPM2 CFL2
2 muscle contraction GO:0006936 9.63 TPM3 TPM2 TNNT1 RYR1 LMOD3 ACTA1
3 cardiac muscle contraction GO:0060048 9.55 TNNT1 RYR2
4 regulation of cytosolic calcium ion concentration GO:0051480 9.54 RYR2 RYR1
5 release of sequestered calcium ion into cytosol GO:0051209 9.52 RYR2 RYR1
6 regulation of cardiac conduction GO:1903779 9.51 RYR2 RYR1
7 sarcomere organization GO:0045214 9.5 TNNT1 KLHL41 CFL2
8 striated muscle contraction GO:0006941 9.49 LMOD3 KLHL41
9 skeletal muscle thin filament assembly GO:0030240 9.48 LMOD3 ACTA1
10 myofibril assembly GO:0030239 9.43 LMOD3 KLHL41
11 response to caffeine GO:0031000 9.4 RYR2 RYR1
12 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.37 RYR2 RYR1
13 muscle filament sliding GO:0030049 9.35 TPM3 TPM2 TNNT1 NEB ACTA1
14 cellular response to caffeine GO:0071313 9.26 RYR2 RYR1
15 skeletal muscle fiber development GO:0048741 9.1 SELENON RYR1 LMOD3 KLHL41 KLHL40 ACTA1

Molecular functions related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.46 TPM3 TPM2 NEB CFL2
2 structural constituent of muscle GO:0008307 9.37 TPM2 NEB
3 tropomyosin binding GO:0005523 9.32 TNNT1 LMOD3
4 calcium-release channel activity GO:0015278 9.26 RYR2 RYR1
5 ryanodine-sensitive calcium-release channel activity GO:0005219 8.96 RYR2 RYR1
6 calcium-induced calcium release activity GO:0048763 8.62 RYR2 RYR1

Sources for Congenital Structural Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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