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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:422
MeSH 44 D020914
NCIt 50 C84648
UMLS 73 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 rigidity. An important gene associated with Congenital Structural Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. 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 26)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 29.7 ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD3
2 centronuclear myopathy 11.2
3 foot drop 10.2 ACTA1 NEB
4 arthrogryposis, distal, type 1a 10.1 RYR1 TPM2
5 multiple pterygium syndrome, lethal type 10.1 NEB RYR1
6 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1 TPM2 TPM3
7 congenital contractures 10.1 LMOD3 RYR1
8 nemaline myopathy 2 10.1 NEB TPM3
9 cap myopathy 10.0 ACTA1 TPM2 TPM3
10 myopathy, tubular aggregate, 1 10.0 ACTA1 RYR1
11 multiminicore disease 10.0 RYR1 SELENON
12 muscle tissue disease 10.0 NEB RYR1
13 central core disease of muscle 10.0 NEB RYR1 SELENON
14 rigid spine muscular dystrophy 1 9.9 ACTA1 RYR1 SELENON
15 muscle disorders 9.9 RYR1 SELENON TPM3
16 central core myopathy 9.9 KBTBD13 RYR1 SELENON
17 intermediate congenital nemaline myopathy 9.9 ACTA1 KLHL41 NEB TPM3
18 myopathy, congenital, with fiber-type disproportion 9.8 ACTA1 RYR1 SELENON TPM3
19 muscular dystrophy 9.8 ACTA1 NEB RYR1 SELENON
20 severe congenital nemaline myopathy 9.7 ACTA1 KLHL40 KLHL41 LMOD3 NEB
21 childhood-onset nemaline myopathy 9.6 ACTA1 KBTBD13 KLHL41 NEB TPM2 TPM3
22 typical congenital nemaline myopathy 9.6 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
23 congenital fiber-type disproportion 9.6 ACTA1 CFL2 RYR1 SELENON TPM2 TPM3
24 muscular disease 9.5 ACTA1 KBTBD13 NEB RYR1 SELENON TPM2
25 myopathy, congenital 9.4 ACTA1 NEB RYR1 SELENON TNNT1 TPM3
26 myopathy 8.7 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 rigidity, muscle cramp, muscle spasticity

MGI Mouse Phenotypes related to Congenital Structural Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ACTA1 CFL2 KLHL41 LMOD3 NEB RYR1
2 growth/size/body region MP:0005378 9.56 ACTA1 CFL2 KLHL40 KLHL41 LMOD3 NEB
3 muscle MP:0005369 9.32 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

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 15)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.7 ACTA1 CFL2 KLHL41 LMOD3 NEB TPM2
2 Z disc GO:0030018 9.58 CFL2 NEB RYR1
3 sarcomere GO:0030017 9.55 ACTA1 NEB
4 stress fiber GO:0001725 9.54 ACTA1 TPM3
5 sarcoplasmic reticulum GO:0016529 9.52 KLHL41 RYR1
6 myofibril GO:0030016 9.51 LMOD3 NEB
7 actin filament GO:0005884 9.5 ACTA1 TPM2 TPM3
8 Cul3-RING ubiquitin ligase complex GO:0031463 9.49 KLHL40 KLHL41
9 sarcoplasmic reticulum membrane GO:0033017 9.48 KLHL41 RYR1
10 M band GO:0031430 9.46 KLHL41 LMOD3
11 striated muscle thin filament GO:0005865 9.43 ACTA1 LMOD3
12 A band GO:0031672 9.37 KLHL40 LMOD3
13 muscle thin filament tropomyosin GO:0005862 9.26 TPM2 TPM3
14 I band GO:0031674 9.13 CFL2 KLHL40 RYR1
15 actin cytoskeleton GO:0015629 9.02 ACTA1 CFL2 NEB TPM2 TPM3

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.63 ACTA1 LMOD3 RYR1 TNNT1 TPM2 TPM3
2 actin filament organization GO:0007015 9.58 CFL2 TPM2 TPM3
3 striated muscle contraction GO:0006941 9.46 KLHL41 LMOD3
4 skeletal muscle thin filament assembly GO:0030240 9.43 ACTA1 LMOD3
5 sarcomere organization GO:0045214 9.43 CFL2 KLHL41 TNNT1
6 myofibril assembly GO:0030239 9.37 KLHL41 LMOD3
7 muscle filament sliding GO:0030049 9.35 ACTA1 NEB TNNT1 TPM2 TPM3
8 cellular response to caffeine GO:0071313 9.32 RYR1 SELENON
9 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 structural constituent of muscle GO:0008307 9.16 NEB TPM2
2 tropomyosin binding GO:0005523 8.96 LMOD3 TNNT1
3 actin filament binding GO:0051015 8.92 CFL2 NEB TPM2 TPM3

Sources for Congenital Structural 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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