Aliases & Classifications for Central Core Myopathy

MalaCards integrated aliases for Central Core Myopathy:

Name: Central Core Myopathy 12 15 17 74
Myopathy, Central Core 45
Central Core Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3529
MeSH 45 D020512
NCIt 51 C83010
SNOMED-CT 69 43152001
ICD10 34 G71.2
UMLS 74 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 Circadian entrainment and Cardiac conduction. Affiliated tissues include skeletal muscle, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Central Core Myopathy

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 32.5 CACNA1S NEB RYR1 RYR2 SELENON
2 myopathy, congenital 31.4 MTM1 MYH7 NEB RYR1 SELENON
3 muscle disorders 30.5 RYR1 RYR2 SELENON
4 multiminicore disease 29.9 RYR1 SELENON
5 centronuclear myopathy 29.6 MTM1 RYR1
6 myopathy 29.4 MTM1 MYH7 NEB RYR1 SELENON
7 malignant hyperthermia susceptibility 29.4 CACNA1S CASQ1 RYR1
8 malignant hyperthermia 29.1 CACNA1S CASQ1 RYR1 RYR2
9 malignant hyperthermia 1 11.4
10 malignant hyperthermia of anesthesia 10.2 CACNA1S RYR1
11 myopathy, congenital, bailey-bloch 10.2 CACNA1S RYR1
12 familial periodic paralysis 10.2 CACNA1S RYR1
13 scoliosis 10.1
14 charcot-marie-tooth disease, dominant intermediate b 10.1 MTM1 RYR1
15 hypokalemic periodic paralysis, type 1 10.1 CACNA1S RYR1
16 andersen cardiodysrhythmic periodic paralysis 10.1 CACNA1S RYR2
17 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 MYH7 RYR2
18 multiple pterygium syndrome, lethal type 10.0 NEB RYR1
19 arrhythmogenic right ventricular dysplasia, familial, 2 10.0 RYR1 RYR2 RYR3
20 myopathy, congenital, with fiber-type disproportion 10.0 MYH7 RYR1 SELENON
21 cardiac conduction defect 9.9 MYH7 RYR1 RYR2
22 rigid spine muscular dystrophy 1 9.9 MYH7 RYR1 SELENON
23 congenital fiber-type disproportion 9.9 MYH7 RYR1 SELENON
24 congenital structural myopathy 9.9 NEB RYR1 SELENON
25 clubfoot 9.9
26 spinal muscular atrophy 9.9
27 ptosis 9.9
28 congenital ptosis 9.9
29 muscular atrophy 9.9
30 catecholaminergic polymorphic ventricular tachycardia 9.9 RYR1 RYR2
31 intrinsic cardiomyopathy 9.9 MYH7 RYR2
32 muscle tissue disease 9.8 MTM1 NEB RYR1
33 myopathy, tubular aggregate, 1 9.8 CASQ1 RYR1
34 spondyloarthropathy 1 9.7
35 cardiomyopathy, familial hypertrophic, 1 9.7
36 fructose-1,6-bisphosphatase deficiency 9.7
37 minicore myopathy with external ophthalmoplegia 9.7
38 hemophagocytic lymphohistiocytosis 9.7
39 nemaline myopathy 9.7
40 neuromuscular disease 9.7
41 spondylitis 9.7
42 hypertrophic cardiomyopathy 9.7
43 diploid-triploid mosaicism 9.7
44 arrhythmogenic right ventricular cardiomyopathy 9.7 CACNA1S MYH7 RYR1 RYR2
45 muscular dystrophy 9.4 CASQ1 NEB RYR1 SELENON
46 muscular disease 8.4 CACNA1S CASQ1 MTM1 MYH7 NEB 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CACNA1S MTM1 NEB RYR1 RYR2 RYR3
2 growth/size/body region MP:0005378 9.7 CACNA1S CASQ1 MTM1 NEB RYR1 RYR2
3 homeostasis/metabolism MP:0005376 9.5 CACNA1S CASQ1 MTM1 NEB RYR1 RYR2
4 muscle MP:0005369 9.28 CACNA1S CASQ1 MTM1 MYH7 NEB RYR1

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:

42
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
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy. ( 20452790 )
2011
6
RYR1-related central core myopathy in a Chinese adolescent boy. ( 21282829 )
2011
7
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? ( 14732615 )
2004

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
12.71 CACNA1S RYR1 RYR2 RYR3
2
Show member pathways
12.53 CACNA1S NEB RYR1 RYR2 RYR3
3
Show member pathways
12.51 CACNA1S RYR1 RYR2 RYR3
4
Show member pathways
12.37 CACNA1S MYH7 RYR1 RYR2 RYR3
5
Show member pathways
12.22 RYR1 RYR2 RYR3
6
Show member pathways
12.19 CACNA1S RYR1 RYR2 RYR3
7
Show member pathways
12.04 CACNA1S CASQ1 RYR1 RYR2 RYR3
8
Show member pathways
11.95 CACNA1S MYH7 RYR2
9
Show member pathways
11.95 CACNA1S RYR1 RYR2 RYR3
10 11.81 RYR1 RYR2 RYR3
11 11.71 CACNA1S RYR1 RYR2 RYR3
12 11.52 CACNA1S MYH7 RYR2
13 11.31 CASQ1 RYR2
14 10.61 CACNA1S RYR1 RYR2 RYR3
15 10.56 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 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle membrane GO:0030659 9.71 RYR1 RYR2 RYR3
2 cell GO:0005623 9.71 MTM1 RYR1 RYR2 RYR3
3 sarcomere GO:0030017 9.69 MYH7 NEB RYR2
4 sarcoplasmic reticulum GO:0016529 9.67 CASQ1 RYR1 RYR2 RYR3
5 myofibril GO:0030016 9.65 CASQ1 MYH7 NEB
6 T-tubule GO:0030315 9.63 CACNA1S CASQ1 RYR1
7 sarcoplasmic reticulum membrane GO:0033017 9.62 CASQ1 RYR1 RYR2 RYR3
8 calcium channel complex GO:0034704 9.61 RYR1 RYR2 RYR3
9 smooth endoplasmic reticulum GO:0005790 9.56 CASQ1 RYR1 RYR2 RYR3
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.52 RYR1 RYR2
11 terminal cisterna GO:0014802 9.49 CASQ1 RYR1
12 sarcolemma GO:0042383 9.46 CASQ1 RYR1 RYR2 RYR3
13 I band GO:0031674 9.26 CACNA1S CASQ1 MTM1 RYR1
14 Z disc GO:0030018 9.1 CASQ1 MYH7 NEB RYR1 RYR2 RYR3

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 CACNA1S RYR1 RYR2 RYR3
2 transmembrane transport GO:0055085 9.8 CACNA1S RYR1 RYR2 RYR3
3 ion transmembrane transport GO:0034220 9.67 CASQ1 RYR1 RYR2 RYR3
4 muscle contraction GO:0006936 9.65 CACNA1S MYH7 RYR1
5 cellular calcium ion homeostasis GO:0006874 9.63 RYR1 RYR2 RYR3
6 protein homotetramerization GO:0051289 9.58 RYR1 RYR3
7 cardiac muscle contraction GO:0060048 9.57 MYH7 RYR2
8 regulation of cytosolic calcium ion concentration GO:0051480 9.56 RYR1 RYR2
9 calcium ion transport GO:0006816 9.56 CACNA1S RYR1 RYR2 RYR3
10 muscle filament sliding GO:0030049 9.55 MYH7 NEB
11 regulation of heart rate GO:0002027 9.54 MYH7 RYR2
12 skeletal muscle fiber development GO:0048741 9.51 RYR1 SELENON
13 release of sequestered calcium ion into cytosol GO:0051209 9.5 RYR1 RYR2 RYR3
14 calcium ion transmembrane transport GO:0070588 9.46 CACNA1S RYR1 RYR2 RYR3
15 response to caffeine GO:0031000 9.43 RYR1 RYR2
16 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.4 RYR1 RYR2
17 regulation of cardiac conduction GO:1903779 9.26 CASQ1 RYR1 RYR2 RYR3
18 cellular response to caffeine GO:0071313 8.92 CACNA1S RYR1 RYR2 RYR3

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 9.77 CASQ1 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 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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