MCID: CNG032
MIFTS: 27

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 71

Classifications:



External Ids:

Disease Ontology 12 DOID:422
MeSH 43 D020914
NCIt 49 C84648
UMLS 71 C0752282

Summaries for Congenital Structural Myopathy

MalaCards based summary : Congenital Structural Myopathy is related to centronuclear myopathy and nemaline 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 DREAM Repression and Dynorphin Expression and Cardiac conduction. Affiliated tissues include skeletal muscle, and 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 centronuclear myopathy 31.8 TPM2 SELENON RYR1 NEB MTM1 KLHL40
2 nemaline myopathy 31.7 TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
3 congenital myopathy with cores 10.6 RYR1 ACTA1
4 skeletal muscle disease 10.5 RYR1 CFL2
5 foot drop 10.5 NEB ACTA1
6 multiminicore disease 10.5 SELENON RYR1
7 snail allergy 10.5 TPM3 TPM2
8 nemaline myopathy 11, autosomal recessive 10.5 LMOD3 KLHL40 KBTBD13
9 nemaline myopathy 3 10.5 LMOD3 KBTBD13 ACTA1
10 shrimp allergy 10.5 TPM3 TPM2
11 nemaline myopathy 7 10.4 KBTBD13 CFL2
12 reducing body myopathy 10.4 NEB KLHL40 CFL2
13 arthrogryposis, distal, type 1a 10.4 TPM2 RYR1 ACTA1
14 crustacean allergy 10.4 TPM3 TPM2
15 cap myopathy 10.4 TPM3 TPM2 ACTA1
16 fish allergy 10.4 TPM3 TPM2
17 congenital contractures 10.4 RYR1 LMOD3
18 nemaline myopathy 1 10.4 TPM3 KBTBD13 CTDNEP1
19 melon allergy 10.4 TPM3 TPM2
20 myopathy, spheroid body 10.4 NEB LMOD3
21 rigid spine muscular dystrophy 1 10.4 SELENON RYR1 ACTA1
22 nemaline myopathy 5 10.4 TNNT1 MTM1 KBTBD13
23 nemaline myopathy 9 10.4 LMOD3 KLHL41 KLHL40 KBTBD13
24 nemaline myopathy 8 10.4 LMOD3 KLHL41 KLHL40 KBTBD13
25 arrhythmogenic right ventricular dysplasia, familial, 2 10.3 RYR3 RYR2 RYR1
26 nemaline myopathy 10 10.3 LMOD3 KLHL41 KLHL40 KBTBD13
27 cardiomyopathy, familial hypertrophic, 6 10.3 TMOD1 LMOD3 LMOD2
28 intermediate congenital nemaline myopathy 10.3 TPM3 NEB KLHL41 ACTA1
29 nemaline myopathy 2 10.3 NEB KBTBD13
30 myopathy, congenital, bailey-bloch 10.3 SELENON RYR1 CACNA1S
31 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 RYR3 RYR2 RYR1
32 myopathy, congenital, with fiber-type disproportion 10.3 TPM3 SELENON RYR1 ACTA1
33 myofibrillar myopathy 10.3 SELENON NEB ACTA1
34 muscle tissue disease 10.3 SELENON RYR1 NEB MTM1
35 severe congenital nemaline myopathy 10.3 NEB LMOD3 KLHL41 KLHL40 ACTA1
36 malignant hyperthermia susceptibility 10.2 RYR1 CACNA1S
37 catecholaminergic polymorphic ventricular tachycardia 10.2 RYR3 RYR2 RYR1
38 respiratory failure 10.2 SELENON RYR1 LMOD3 KLHL40 ACTA1
39 myopathy, centronuclear, 1 10.2 RYR1 MTM1
40 typical congenital nemaline myopathy 10.1 TPM2 NEB LMOD3 KLHL41 CFL2 ACTA1
41 multiple pterygium syndrome, escobar variant 10.1 TPM2 RYR1 NEB LMOD3 KLHL41 KLHL40
42 neuromuscular disease 10.1 RYR1 MTM1 CACNA1S ACTA1
43 childhood-onset nemaline myopathy 10.1 TPM3 TPM2 NEB KLHL41 KBTBD13 ACTA1
44 central core disease of muscle 10.1 SELENON RYR2 RYR1 NEB CACNA1S
45 muscular dystrophy 10.1 SELENON RYR2 RYR1 NEB ACTA1
46 left bundle branch hemiblock 10.0 TNNT1 RYR2
47 myopathy, congenital 9.9 TPM3 TPM2 SELENON RYR1 NEB MTM1
48 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 9.9 TPM3 TPM2 TNNT1 SELENON NEB CFL2
49 congenital myasthenic syndrome 9.8 TPM2 SELENON RYR2 RYR1 MTM1 KLHL40
50 malignant hyperthermia 9.8 SELENON RYR3 RYR2 RYR1 MTM1 KBTBD13

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ACTA1 CACNA1S CFL2 KLHL41 LMOD2 LMOD3
2 growth/size/body region MP:0005378 9.97 ACTA1 CACNA1S CFL2 KLHL40 KLHL41 LMOD2
3 mortality/aging MP:0010768 9.8 ACTA1 CACNA1S CFL2 CTDNEP1 KLHL40 KLHL41
4 muscle MP:0005369 9.53 ACTA1 CACNA1S CFL2 KLHL40 KLHL41 LMOD2

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

MalaCards organs/tissues related to Congenital Structural Myopathy:

40
Skeletal Muscle

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

Pathways related to Congenital Structural Myopathy according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 RYR3 RYR2 RYR1 CACNA1S ACTA1
2
Show member pathways
12.34 TPM3 TPM2 TNNT1 TMOD1 RYR3 RYR2
3
Show member pathways
12.32 TPM3 TPM2 RYR2 CACNA1S
4
Show member pathways
12.27 RYR3 RYR2 RYR1 CACNA1S
5
Show member pathways
12.26 RYR3 RYR2 RYR1 CACNA1S ACTA1
6
Show member pathways
12.07 RYR3 RYR2 RYR1 CACNA1S
7
Show member pathways
12.03 TPM3 TPM2 RYR2 CACNA1S
8 11.86 RYR3 RYR2 RYR1 CACNA1S
9 11.85 RYR3 RYR2 RYR1
10 11.56 TPM3 TPM2 RYR2 CACNA1S
11 11.15 RYR3 RYR2 RYR1 CACNA1S
12 10.96 TPM3 TPM2 TNNT1 TMOD1 NEB ACTA1
13 10.57 RYR1 CACNA1S
14 10.55 RYR3 RYR2 RYR1

GO Terms for Congenital Structural Myopathy

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 TPM3 TPM2 TMOD1 RYR1 NEB MTM1
2 cytoskeleton GO:0005856 10.11 TPM3 TPM2 TMOD1 NEB LMOD3 LMOD2
3 actin cytoskeleton GO:0015629 9.91 TPM3 TPM2 NEB CFL2 ACTA1
4 Z disc GO:0030018 9.8 RYR3 RYR2 RYR1 NEB CFL2
5 sarcolemma GO:0042383 9.75 RYR3 RYR2 RYR1
6 sarcoplasmic reticulum GO:0016529 9.73 RYR3 RYR2 RYR1 KLHL41
7 smooth endoplasmic reticulum GO:0005790 9.7 RYR3 RYR2 RYR1
8 M band GO:0031430 9.67 LMOD3 LMOD2 KLHL41
9 myofibril GO:0030016 9.67 TMOD1 NEB LMOD3 LMOD2
10 calcium channel complex GO:0034704 9.65 RYR3 RYR2 RYR1
11 actin filament GO:0005884 9.65 TPM3 TPM2 TMOD1 LMOD2 ACTA1
12 sarcoplasmic reticulum membrane GO:0033017 9.62 RYR3 RYR2 RYR1 KLHL41
13 A band GO:0031672 9.57 LMOD3 KLHL40
14 junctional sarcoplasmic reticulum membrane GO:0014701 9.56 RYR2 RYR1
15 muscle thin filament tropomyosin GO:0005862 9.54 TPM3 TPM2
16 striated muscle thin filament GO:0005865 9.46 TMOD1 LMOD3 LMOD2 ACTA1
17 I band GO:0031674 9.35 RYR1 MTM1 KLHL40 CFL2 CACNA1S
18 sarcomere GO:0030017 9.1 TMOD1 RYR2 NEB MTM1 LMOD2 ACTA1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.76 RYR3 RYR2 RYR1 CACNA1S
2 actin filament organization GO:0007015 9.75 TPM3 TPM2 CFL2
3 cellular calcium ion homeostasis GO:0006874 9.74 RYR3 RYR2 RYR1
4 calcium ion transmembrane transport GO:0070588 9.73 RYR3 RYR2 RYR1 CACNA1S
5 muscle filament sliding GO:0030049 9.73 TPM3 TPM2 TNNT1 TMOD1 NEB ACTA1
6 sarcomere organization GO:0045214 9.71 TNNT1 LMOD2 KLHL41 CFL2
7 release of sequestered calcium ion into cytosol GO:0051209 9.67 RYR3 RYR2 RYR1
8 regulation of cardiac conduction GO:1903779 9.65 RYR3 RYR2 RYR1
9 myofibril assembly GO:0030239 9.62 TMOD1 LMOD3 LMOD2 KLHL41
10 muscle cell cellular homeostasis GO:0046716 9.58 MTM1 CFL2
11 striated muscle contraction GO:0006941 9.56 LMOD3 KLHL41
12 actin nucleation GO:0045010 9.55 LMOD3 LMOD2
13 cellular response to caffeine GO:0071313 9.55 SELENON RYR3 RYR2 RYR1 CACNA1S
14 response to caffeine GO:0031000 9.54 RYR2 RYR1
15 pointed-end actin filament capping GO:0051694 9.54 TMOD1 LMOD3 LMOD2
16 skeletal muscle thin filament assembly GO:0030240 9.52 LMOD3 ACTA1
17 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.51 RYR2 RYR1
18 skeletal muscle fiber development GO:0048741 9.43 SELENON RYR1 LMOD3 KLHL41 KLHL40 ACTA1
19 muscle contraction GO:0006936 9.28 TPM3 TPM2 TNNT1 TMOD1 RYR1 LMOD3

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.73 TPM3 TPM2 TMOD1 LMOD2
2 actin filament binding GO:0051015 9.72 TPM3 TPM2 TMOD1 NEB CFL2
3 calmodulin binding GO:0005516 9.71 RYR3 RYR2 RYR1 CACNA1S
4 calcium channel activity GO:0005262 9.67 RYR3 RYR2 RYR1 CACNA1S
5 calcium-release channel activity GO:0015278 9.43 RYR3 RYR2 RYR1
6 calcium-induced calcium release activity GO:0048763 9.33 RYR3 RYR2 RYR1
7 ryanodine-sensitive calcium-release channel activity GO:0005219 9.13 RYR3 RYR2 RYR1
8 tropomyosin binding GO:0005523 8.92 TNNT1 TMOD1 LMOD3 LMOD2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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