MCID: CNG032
MIFTS: 25

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 44 D020914
NCIt 50 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 Cardiac conduction and Ion channel transport. 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 79)
# Related Disease Score Top Affiliating Genes
1 centronuclear myopathy 32.0 SELENON RYR1 NEB KLHL40 KBTBD13 ACTA1
2 nemaline myopathy 31.6 TPM3 TPM2 TNNT1 NEB KLHL41 CFL2
3 skeletal muscle disease 10.4 RYR1 CFL2
4 congenital myopathy with cores 10.4 RYR1 ACTA1
5 rigid spine muscular dystrophy 10.4 SELENON ACTA1
6 congenital muscular dystrophy-dystroglycanopathy type a10 10.4 SELENON KBTBD13
7 crab allergy 10.4 TPM3 TPM2
8 nemaline myopathy 8 10.4 LMOD3 KLHL40 KBTBD13
9 congenital muscular dystrophy-dystroglycanopathy a14 10.4 SELENON KBTBD13
10 crustacean allergy 10.4 TPM3 TPM2
11 snail allergy 10.3 TPM3 TPM2
12 nemaline myopathy 1 10.3 TPM3 KBTBD13 CTDNEP1
13 autosomal dominant distal myopathy 10.3 MYOT ACTA1
14 multiminicore disease 10.3 SELENON RYR1
15 nemaline myopathy 7 10.3 KBTBD13 CFL2
16 melon allergy 10.3 TPM3 TPM2
17 primary cutaneous amyloidosis 10.3 TNNT1 RYR1 NEB
18 shrimp allergy 10.3 TPM3 TPM2
19 nemaline myopathy 4 10.3 TPM2 LMOD3
20 congenital contractures 10.3 RYR1 LMOD3
21 foot drop 10.3 NEB MYOT ACTA1
22 scapuloperoneal syndrome, neurogenic, kaeser type 10.3 SELENON MYOT
23 cardiomyopathy, familial hypertrophic, 6 10.3 TMOD1 LMOD2
24 nemaline myopathy 9 10.3 LMOD3 KLHL41 KLHL40 KBTBD13
25 myopathy, congenital, bailey-bloch 10.3 SELENON RYR1
26 myopathy, centronuclear, 2 10.3 TPM3 TPM2 RYR1
27 megacystis-microcolon-intestinal hypoperistalsis syndrome 10.3 TMOD1 LMOD3 LMOD2
28 intermediate congenital nemaline myopathy 10.3 TPM3 NEB KLHL41 ACTA1
29 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.3 TRDN RYR2 RYR1
30 muscular disease 10.3 RYR1 NEB MYOT
31 myopathy, myofibrillar, 4 10.3 NEB MYPN MYOT
32 myopathy, congenital, with fiber-type disproportion 10.3 TPM3 SELENON RYR1 ACTA1
33 nemaline myopathy 11, autosomal recessive 10.2 MYPN LMOD3 KLHL41 KBTBD13
34 myopathy, myofibrillar, 9, with early respiratory failure 10.2 NEB MYPN MYOT
35 tibial muscular dystrophy 10.2 NEB MYPN MYOT
36 cap myopathy 10.2 TPM3 TPM2 MYPN ACTA1
37 severe congenital nemaline myopathy 10.2 NEB LMOD3 KLHL41 KLHL40 ACTA1
38 left bundle branch hemiblock 10.2 TNNT1 RYR2
39 hyaline body myopathy 10.2 SELENON NEB MYOT ACTA1
40 myopathy, centronuclear, 1 10.2 TPM3 TPM2 RYR1 MYOT
41 bethlem myopathy 1 10.2 SELENON RYR1 NEB MYOT
42 muscle tissue disease 10.2 SELENON RYR1 NEB MYOT
43 myopathy, spheroid body 10.2 NEB MYPN MYOT LMOD3
44 rigid spine muscular dystrophy 1 10.2 SELENON RYR1 MYOT ACTA1
45 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 TRDN RYR3 RYR2 RYR1
46 ventricular tachycardia, catecholaminergic polymorphic, 2 10.2 TRDN RYR3 RYR2 RYR1
47 capillary malformations, congenital 10.2 TRDN RYR3 RYR2 RYR1
48 heart conduction disease 10.2 TRDN TNNT1 RYR2 RYR1
49 myopathy, myofibrillar, 1 10.2 SELENON NEB MYPN MYOT
50 nemaline myopathy 3 10.2 NEB LMOD3 KLHL41 KLHL40 KBTBD13 ACTA1

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 9.93 ACTA1 CFL2 KLHL41 LMOD2 LMOD3 MYPN
2 growth/size/body region MP:0005378 9.77 ACTA1 CFL2 KBTBD13 KLHL40 KLHL41 LMOD2
3 muscle MP:0005369 9.55 ACTA1 CFL2 KBTBD13 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

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 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 TPM3 TPM2 TMOD1 RYR1 NEB MYPN
2 cytoskeleton GO:0005856 10.13 TPM3 TPM2 TMOD1 NEB MYOT LMOD3
3 actin cytoskeleton GO:0015629 9.93 TPM3 TPM2 NEB MYOT CFL2 ACTA1
4 sarcolemma GO:0042383 9.85 RYR3 RYR2 RYR1 MYOT
5 actin filament GO:0005884 9.8 TPM3 TPM2 TMOD1 LMOD2 ACTA1
6 myofibril GO:0030016 9.78 TMOD1 NEB LMOD3 LMOD2
7 sarcoplasmic reticulum GO:0016529 9.72 TRDN RYR3 RYR2 RYR1 KLHL41
8 calcium channel complex GO:0034704 9.71 RYR3 RYR2 RYR1
9 smooth endoplasmic reticulum GO:0005790 9.7 RYR3 RYR2 RYR1
10 M band GO:0031430 9.69 LMOD3 LMOD2 KLHL41
11 junctional sarcoplasmic reticulum membrane GO:0014701 9.67 TRDN RYR2 RYR1
12 I band GO:0031674 9.67 RYR1 MYPN KLHL40 CFL2
13 A band GO:0031672 9.58 LMOD3 KLHL40
14 muscle thin filament tropomyosin GO:0005862 9.56 TPM3 TPM2
15 striated muscle thin filament GO:0005865 9.56 TMOD1 LMOD3 LMOD2 ACTA1
16 sarcoplasmic reticulum membrane GO:0033017 9.55 TRDN RYR3 RYR2 RYR1 KLHL41
17 sarcomere GO:0030017 9.43 TMOD1 RYR2 NEB MYPN LMOD2 ACTA1
18 Z disc GO:0030018 9.17 RYR3 RYR2 RYR1 NEB MYPN MYOT

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.87 TRDN RYR3 RYR2 RYR1
2 cellular calcium ion homeostasis GO:0006874 9.8 TRDN RYR3 RYR2 RYR1
3 actin filament organization GO:0007015 9.8 TPM3 TPM2 TMOD1 LMOD3 LMOD2 KBTBD13
4 regulation of cardiac conduction GO:1903779 9.78 TRDN RYR3 RYR2 RYR1
5 calcium ion transmembrane transport GO:0070588 9.75 RYR3 RYR2 RYR1
6 sarcomere organization GO:0045214 9.72 TNNT1 MYPN LMOD2 KLHL41 CFL2
7 release of sequestered calcium ion into cytosol GO:0051209 9.69 RYR3 RYR2 RYR1
8 myofibril assembly GO:0030239 9.67 TMOD1 LMOD3 LMOD2 KLHL41
9 cellular response to caffeine GO:0071313 9.63 RYR3 RYR2 RYR1
10 muscle filament sliding GO:0030049 9.63 TPM3 TPM2 TNNT1 TMOD1 NEB ACTA1
11 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.61 TRDN RYR2 RYR1
12 pointed-end actin filament capping GO:0051694 9.58 TMOD1 LMOD3 LMOD2
13 striated muscle contraction GO:0006941 9.56 LMOD3 KLHL41
14 actin nucleation GO:0045010 9.55 LMOD3 LMOD2
15 response to caffeine GO:0031000 9.54 RYR2 RYR1
16 skeletal muscle thin filament assembly GO:0030240 9.52 LMOD3 ACTA1
17 skeletal muscle fiber development GO:0048741 9.43 SELENON RYR1 LMOD3 KLHL41 KLHL40 ACTA1
18 muscle contraction GO:0006936 9.32 TRDN TPM3 TPM2 TNNT1 TMOD1 RYR1

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 9.8 TPM3 TPM2 TMOD1 NEB KBTBD13 CFL2
2 calcium channel activity GO:0005262 9.61 RYR3 RYR2 RYR1
3 structural constituent of muscle GO:0008307 9.58 TPM2 NEB MYOT
4 calcium-release channel activity GO:0015278 9.54 RYR3 RYR2 RYR1
5 calcium-induced calcium release activity GO:0048763 9.43 RYR3 RYR2 RYR1
6 ryanodine-sensitive calcium-release channel activity GO:0005219 9.33 RYR3 RYR2 RYR1
7 tropomyosin binding GO:0005523 9.26 TNNT1 TMOD1 LMOD3 LMOD2
8 actin binding GO:0003779 9.23 TPM3 TPM2 TMOD1 NEB MYPN MYOT

Sources for Congenital Structural Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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