MCID: CNG032
MIFTS: 30

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 74

Classifications:



External Ids:

Disease Ontology 12 DOID:422
MeSH 45 D020914
NCIt 51 C84648
UMLS 74 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). Affiliated tissues include testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Congenital Structural Myopathy

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 28.9 ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
2 centronuclear myopathy 11.3
3 foot drop 10.3 ACTA1 NEB
4 arthrogryposis, distal, type 1a 10.2 RYR1 TPM2
5 congenital contractures 10.2 LMOD3 RYR1
6 multiple pterygium syndrome, lethal type 10.2 NEB RYR1
7 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.2 TPM2 TPM3
8 multiminicore disease 10.1 RYR1 SELENON
9 arrhythmogenic right ventricular dysplasia, familial, 2 10.1 RYR1 RYR2
10 nemaline myopathy 2 10.1 NEB TPM3
11 cardiac conduction defect 10.1 RYR1 RYR2
12 cap myopathy 10.1 ACTA1 TPM2 TPM3
13 rigid spine muscular dystrophy 1 10.0 ACTA1 RYR1 SELENON
14 myopathy, tubular aggregate, 1 10.0 ACTA1 RYR1
15 malignant hyperthermia 9.9 RYR1 RYR2
16 myopathy, congenital, with fiber-type disproportion 9.8 ACTA1 RYR1 SELENON TPM3
17 muscular dystrophy 9.8 ACTA1 NEB RYR1 SELENON
18 intermediate congenital nemaline myopathy 9.8 ACTA1 KLHL41 NEB TPM3
19 central core disease of muscle 9.7 NEB RYR1 RYR2 SELENON
20 muscle disorders 9.7 RYR1 RYR2 SELENON TPM3
21 central core myopathy 9.7 KBTBD13 RYR1 RYR2 SELENON
22 severe congenital nemaline myopathy 9.6 ACTA1 KLHL40 KLHL41 LMOD3 NEB
23 childhood-onset nemaline myopathy 9.4 ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
24 congenital fiber-type disproportion 9.4 ACTA1 CFL2 RYR1 SELENON TPM2 TPM3
25 typical congenital nemaline myopathy 9.3 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
26 myopathy, congenital 9.2 ACTA1 NEB RYR1 SELENON TNNT1 TPM3
27 muscular disease 9.0 ACTA1 KBTBD13 NEB RYR1 RYR2 SELENON
28 myopathy 8.1 ACTA1 CFL2 KBTBD13 KLHL40 LMOD3 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

GenomeRNAi Phenotypes related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.64 TPM2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.64 RYR1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.64 RYR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.64 TPM2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.64 RYR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.64 TPM2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.64 RYR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.64 RYR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.64 RYR1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.64 RYR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 RYR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.64 RYR1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.64 TPM2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.64 RYR2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.64 TPM2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.64 TPM2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.64 RYR1 RYR2 TPM2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.64 RYR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.64 RYR1

MGI Mouse Phenotypes related to Congenital Structural Myopathy:

47
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Transfer Clinical Study in X-Linked Myotubular Myopathy Recruiting NCT03199469 Phase 1, Phase 2
2 Myotubular Myopathy Genetic Testing Study Completed NCT01817946
3 Myotubular Myopathy Event Study Completed NCT01840657
4 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
5 Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02453152
6 Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies Recruiting NCT03351270 Not Applicable
7 A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM) Recruiting NCT02231697
8 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
9 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
10 A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects Active, not recruiting NCT02704273

Search NIH Clinical Center for Congenital Structural Myopathy

Genetic Tests for Congenital Structural Myopathy

Anatomical Context for Congenital Structural Myopathy

MalaCards organs/tissues related to Congenital Structural Myopathy:

42
Testes

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

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

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 CFL2 NEB TPM2 TPM3
2 structural constituent of muscle GO:0008307 9.37 NEB TPM2
3 tropomyosin binding GO:0005523 9.32 LMOD3 TNNT1
4 calcium-release channel activity GO:0015278 9.26 RYR1 RYR2
5 calcium-induced calcium release activity GO:0048763 8.96 RYR1 RYR2
6 ryanodine-sensitive calcium-release channel activity GO:0005219 8.62 RYR1 RYR2

Sources for Congenital Structural 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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