Aliases & Classifications for Central Core Myopathy

MalaCards integrated aliases for Central Core Myopathy:

Name: Central Core Myopathy 12 15 73
Myopathy, Central Core 44
Central Core Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3529
ICD10 33 G71.2
MeSH 44 D020512
NCIt 50 C83010
SNOMED-CT 68 43152001
UMLS 73 C0751951

Summaries for Central Core Myopathy

MalaCards based summary : Central Core Myopathy, also known as myopathy, central core, is related to central core disease of muscle and myopathy, congenital, and has symptoms including generalized muscle weakness An important gene associated with Central Core Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are CREB Pathway and Circadian entrainment. Affiliated tissues include skeletal muscle, and related phenotypes are behavior/neurological and muscle

Related Diseases for Central Core Myopathy

Diseases related to Central Core Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 33.1 CACNA1S RYR1 RYR2 SELENON
2 myopathy, congenital 31.8 MTM1 MYH7 RYR1 SELENON
3 malignant hyperthermia susceptibility 30.0 CACNA1S RYR1
4 centronuclear myopathy 29.7 MTM1 RYR1
5 myopathy 29.7 KBTBD13 MTM1 MYH7 RYR1 SELENON
6 malignant hyperthermia 29.5 CACNA1S QDPR RYR1 RYR2
7 neuromuscular disease 29.4 MTM1 RYR1
8 malignant hyperthermia 1 11.0
9 scoliosis 10.1
10 multiminicore disease 10.1 RYR1 SELENON
11 malignant hyperthermia of anesthesia 10.1 CACNA1S RYR1
12 charcot-marie-tooth disease, dominant intermediate b 10.1 MTM1 RYR1
13 andersen cardiodysrhythmic periodic paralysis 10.1 CACNA1S RYR2
14 muscle disorders 10.0 RYR1 RYR2 SELENON
15 myopathy, tubular aggregate, 1 10.0 QDPR RYR1
16 muscle tissue disease 10.0 MTM1 RYR1
17 catecholaminergic polymorphic ventricular tachycardia 10.0 RYR1 RYR2
18 congenital structural myopathy 10.0 KBTBD13 RYR1 SELENON
19 myopathy, congenital, bailey-bloch 10.0 CACNA1S QDPR RYR1
20 familial periodic paralysis 10.0 CACNA1S QDPR RYR1
21 hypokalemic periodic paralysis, type 1 9.9 CACNA1S QDPR RYR1
22 arrhythmogenic right ventricular dysplasia, familial, 2 9.9 RYR1 RYR2 RYR3
23 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.9 MYH7 RYR2
24 spinal muscular atrophy 9.9
25 ptosis 9.9
26 congenital ptosis 9.9
27 muscular atrophy 9.9
28 clubfoot 9.9
29 intrinsic cardiomyopathy 9.9 MYH7 RYR2
30 myopathy, congenital, with fiber-type disproportion 9.9 MYH7 RYR1 SELENON
31 cardiac conduction defect 9.8 MYH7 RYR1 RYR2
32 rigid spine muscular dystrophy 1 9.8 MYH7 RYR1 SELENON
33 congenital fiber-type disproportion 9.8 MYH7 RYR1 SELENON
34 spondyloarthropathy 1 9.7
35 fructose-1,6-bisphosphatase deficiency 9.7
36 hemophagocytic lymphohistiocytosis 9.7
37 nemaline myopathy 9.7
38 spondylitis 9.7
39 hypertrophic cardiomyopathy 9.7
40 diploid-triploid mosaicism 9.7
41 arrhythmogenic right ventricular cardiomyopathy 9.7 CACNA1S MYH7 RYR1 RYR2
42 muscular disease 9.0 CACNA1S KBTBD13 MTM1 MYH7 QDPR RYR1

Graphical network of the top 20 diseases related to Central Core Myopathy:



Diseases related to Central Core Myopathy

Symptoms & Phenotypes for Central Core Myopathy

UMLS symptoms related to Central Core Myopathy:


generalized muscle weakness

MGI Mouse Phenotypes related to Central Core Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 CACNA1S MTM1 RYR1 RYR2 RYR3 SELENON
2 muscle MP:0005369 9.17 CACNA1S MTM1 MYH7 RYR1 RYR2 RYR3

Drugs & Therapeutics for Central Core Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Central Core Myopathy

Cochrane evidence based reviews: myopathy, central core

Genetic Tests for Central Core Myopathy

Anatomical Context for Central Core Myopathy

MalaCards organs/tissues related to Central Core Myopathy:

41
Skeletal Muscle

Publications for Central Core Myopathy

Articles related to Central Core Myopathy:

# Title Authors Year
1
Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy. ( 29465616 )
2018
2
Central core myopathy with autophagy. ( 28164363 )
2017
3
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. ( 22030266 )
2012
4
First branchial arch syndrome with central core myopathy presenting with bilateral congenital ptosis. ( 23738416 )
2012
5
RYR1-related central core myopathy in a Chinese adolescent boy. ( 21282829 )
2011
6
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy. ( 20452790 )
2011

Variations for Central Core Myopathy

Expression for Central Core Myopathy

Search GEO for disease gene expression data for Central Core Myopathy.

Pathways for Central Core Myopathy

Pathways related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 CACNA1S QDPR RYR1 RYR2 RYR3
2
Show member pathways
12.72 CACNA1S RYR1 RYR2 RYR3
3
Show member pathways
12.54 CACNA1S RYR1 RYR2 RYR3
4
Show member pathways
12.49 CACNA1S RYR1 RYR2 RYR3
5
Show member pathways
12.29 CACNA1S MYH7 RYR1 RYR2 RYR3
6
Show member pathways
12.23 RYR1 RYR2 RYR3
7
Show member pathways
12.22 CACNA1S RYR1 RYR2 RYR3
8
Show member pathways
12.13 CACNA1S RYR1 RYR2 RYR3
9
Show member pathways
11.95 CACNA1S MYH7 RYR2
10
Show member pathways
11.89 CACNA1S RYR1 RYR2 RYR3
11 11.79 RYR1 RYR2 RYR3
12 11.61 CACNA1S RYR1 RYR2 RYR3
13 11.47 CACNA1S MYH7 RYR2
14 10.61 CACNA1S RYR1 RYR2 RYR3
15 10.54 CACNA1S RYR1
16 10.25 RYR1 RYR2 RYR3

GO Terms for Central Core Myopathy

Cellular components related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle membrane GO:0030659 9.65 RYR1 RYR2 RYR3
2 Z disc GO:0030018 9.62 MYH7 RYR1 RYR2 RYR3
3 sarcoplasmic reticulum GO:0016529 9.61 RYR1 RYR2 RYR3
4 sarcoplasmic reticulum membrane GO:0033017 9.58 RYR1 RYR2 RYR3
5 smooth endoplasmic reticulum GO:0005790 9.54 RYR1 RYR2 RYR3
6 sarcomere GO:0030017 9.51 MYH7 RYR2
7 T-tubule GO:0030315 9.49 CACNA1S RYR1
8 junctional sarcoplasmic reticulum membrane GO:0014701 9.46 RYR1 RYR2
9 calcium channel complex GO:0034704 9.43 RYR1 RYR2 RYR3
10 I band GO:0031674 9.33 CACNA1S MTM1 RYR1
11 cell GO:0005623 9.26 MTM1 RYR1 RYR2 RYR3
12 sarcolemma GO:0042383 8.92 CACNA1S RYR1 RYR2 RYR3

Biological processes related to Central Core Myopathy according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.81 CACNA1S RYR1 RYR2 RYR3
2 transmembrane transport GO:0055085 9.78 CACNA1S RYR1 RYR2 RYR3
3 ion transmembrane transport GO:0034220 9.71 RYR1 RYR2 RYR3
4 muscle contraction GO:0006936 9.63 CACNA1S MYH7 RYR1
5 cellular calcium ion homeostasis GO:0006874 9.61 RYR1 RYR2 RYR3
6 protein homotetramerization GO:0051289 9.57 RYR1 RYR3
7 cardiac muscle contraction GO:0060048 9.56 MYH7 RYR2
8 regulation of cytosolic calcium ion concentration GO:0051480 9.55 RYR1 RYR2
9 regulation of heart rate GO:0002027 9.52 MYH7 RYR2
10 release of sequestered calcium ion into cytosol GO:0051209 9.5 RYR1 RYR2 RYR3
11 skeletal muscle fiber development GO:0048741 9.49 RYR1 SELENON
12 calcium ion transport GO:0006816 9.46 CACNA1S RYR1 RYR2 RYR3
13 regulation of cardiac conduction GO:1903779 9.43 RYR1 RYR2 RYR3
14 response to caffeine GO:0031000 9.4 RYR1 RYR2
15 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.37 RYR1 RYR2
16 calcium ion transmembrane transport GO:0070588 9.26 CACNA1S RYR1 RYR2 RYR3
17 cellular response to caffeine GO:0071313 9.02 CACNA1S RYR1 RYR2 RYR3 SELENON

Molecular functions related to Central Core Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.67 RYR1 RYR2 RYR3 SELENON
2 calcium channel activity GO:0005262 9.62 CACNA1S RYR1 RYR2 RYR3
3 calmodulin binding GO:0005516 9.55 CACNA1S MYH7 RYR1 RYR2 RYR3
4 calcium-release channel activity GO:0015278 9.43 RYR1 RYR2 RYR3
5 voltage-gated calcium channel activity GO:0005245 9.4 CACNA1S RYR1
6 calcium-induced calcium release activity GO:0048763 9.13 RYR1 RYR2 RYR3
7 ryanodine-sensitive calcium-release channel activity GO:0005219 8.8 RYR1 RYR2 RYR3

Sources for Central Core 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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