MCID: CNT009
MIFTS: 43

Central Core Myopathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Central Core Myopathy

MalaCards integrated aliases for Central Core Myopathy:

Name: Central Core Myopathy 12 29 6 15 17 71
Myopathy, Central Core 44
Central Core Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3529
MeSH 44 D020512
NCIt 50 C83010
SNOMED-CT 67 43152001
ICD10 32 G71.2
UMLS 71 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 multiminicore disease, 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and nNOS Signaling in Skeletal Muscle. Affiliated tissues include skeletal muscle, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Central Core Myopathy

Diseases in the Central Core Myopathy family:

Congenital Myopathy with Cores

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 central core disease of muscle 32.1 SELENON RYR2 RYR1 NEB CACNA1S
2 multiminicore disease 30.6 SELENON RYR1
3 centronuclear myopathy 29.8 SELENON RYR1 NEB
4 malignant hyperthermia susceptibility 29.6 STAC3 RYR1 CASQ1 CACNA1S
5 neuromuscular disease 29.6 STAC3 RYR2 RYR1 CACNA1S
6 batten-turner congenital myopathy 29.6 STAC3 SELENON RYR1 NEB
7 muscular dystrophy 29.2 SELENON RYR2 RYR1 NEB CASQ1
8 hypokalemic periodic paralysis, type 1 29.2 TRDN STAC3 RYR1 QDPR CACNA1S
9 congenital myasthenic syndrome 28.8 TRDN SELENON RYR2 RYR1 FKBP1B CACNA1S
10 myopathy 28.6 STAC3 SELENON RYR3 RYR2 RYR1 NEB
11 catecholaminergic polymorphic ventricular tachycardia 28.3 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ1
12 malignant hyperthermia 27.2 TRDN STAC3 SELENON RYR3 RYR2 RYR1
13 malignant hyperthermia 1 11.1
14 scoliosis 10.4
15 visual epilepsy 10.3 PPT1 CLN8
16 progressive myoclonus epilepsy 3 10.3 PPT1 CLN8
17 ceroid lipofuscinosis, neuronal, 11 10.2 PPT1 CLN8
18 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2 RYR1 CACNA1S
19 ceroid lipofuscinosis, neuronal, 13 10.2 PPT1 CLN8
20 ceroid lipofuscinosis, neuronal, 7 10.1 PPT1 CLN8
21 nemaline myopathy 10.1
22 multicore disease 10.1
23 skeletal muscle disease 10.1 RYR1 CASQ1
24 atrophic muscular disease 10.1 RYR1 CASQ1
25 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.1 PPT1 CLN8
26 andersen cardiodysrhythmic periodic paralysis 10.1 TRDN RYR2 CACNA1S
27 ptosis 10.1
28 clubfoot 10.1
29 timothy syndrome 10.1 TRDN RYR2 CACNA1S
30 ceroid lipofuscinosis, neuronal, 10 10.1 PPT1 CLN8
31 bethlem myopathy 1 10.0 SELENON RYR1 NEB
32 hyaline body myopathy 10.0 SELENON NEB
33 familial periodic paralysis 10.0 STAC3 RYR1 CACNA1S
34 myopathy, proximal, with ophthalmoplegia 10.0
35 idiopathic scoliosis 10.0
36 congenital amyoplasia 10.0
37 muscle tissue disease 10.0 SELENON RYR1 NEB
38 spinocerebellar ataxia, autosomal recessive 7 9.9 PPT1 CLN8
39 congenital ptosis 9.9
40 spinal muscular atrophy 9.9
41 muscular atrophy 9.9
42 hypotonia 9.9
43 stormorken syndrome 9.9 RYR1 CASQ1 ASPH
44 multiple pterygium syndrome, escobar variant 9.9 STAC3 RYR1 NEB
45 arrhythmogenic right ventricular dysplasia, familial, 12 9.9 RYR2 FKBP1B
46 myopathy, congenital, bailey-bloch 9.8 STAC3 SELENON RYR1 CACNA1S
47 brody myopathy 9.8 STAC3 RYR1 CASQ1
48 leber congenital amaurosis 2 9.8 RYR2 FKBP1B CRX
49 spondyloarthropathy 1 9.8
50 nemaline myopathy 3 9.8

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

GenomeRNAi Phenotypes related to Central Core Myopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.93 STAC3
2 Decreased viability GR00221-A-3 9.93 STAC3
3 Decreased viability GR00221-A-4 9.93 STAC3
4 Decreased viability GR00240-S-1 9.93 MEFV
5 Decreased viability GR00249-S 9.93 ASPH ATP13A4 CRX MEFV RYR1 RYR2
6 Decreased viability GR00381-A-1 9.93 ATP13A4 MEFV
7 Decreased viability GR00386-A-1 9.93 ATP13A4 CACNA1S CRX
8 Decreased viability GR00402-S-2 9.93 NEB SELENON
9 Increased shRNA abundance GR00327-A 8.92 CACNA1S CLN8 CRX NEB

MGI Mouse Phenotypes related to Central Core Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 CACNA1S CASQ1 CLN8 CRX FKBP1A NEB
2 growth/size/body region MP:0005378 10.1 ASPH CACNA1S CASQ1 CRX FKBP1A FKBP1B
3 homeostasis/metabolism MP:0005376 10.03 ANTXR2 ASPH CACNA1S CASQ1 CRX FKBP1A
4 mortality/aging MP:0010768 9.77 ANTXR2 ASPH CACNA1S CLN8 FKBP1A FKBP1B
5 muscle MP:0005369 9.44 ASPH CACNA1S CASQ1 FKBP1A FKBP1B NEB

Drugs & Therapeutics for Central Core Myopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
2 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883

Search NIH Clinical Center for Central Core Myopathy

Cochrane evidence based reviews: myopathy, central core

Genetic Tests for Central Core Myopathy

Genetic tests related to Central Core Myopathy:

# Genetic test Affiliating Genes
1 Central Core Myopathy 29 RYR1

Anatomical Context for Central Core Myopathy

MalaCards organs/tissues related to Central Core Myopathy:

40
Skeletal Muscle

Publications for Central Core Myopathy

Articles related to Central Core Myopathy:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. 6
17538032 2008
2
Central core disease is due to RYR1 mutations in more than 90% of patients. 6
16621918 2006
3
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. 6
12566385 2003
4
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. 6
11741831 2001
5
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. 6
11709545 2001
6
Malignant hyperthermia and apparent heat stroke. 6
11448278 2001
7
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 6
11274444 2001
8
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. 6
11113224 2000
9
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. 6
11063719 2000
10
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. 6
10097181 1999
11
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 6
9497245 1998
12
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 6
9030597 1997
13
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 6
8661021 1996
14
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. 6
8592342 1995
15
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. 6
7586638 1995
16
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 6
7889656 1994
17
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. 6
7829078 1994
18
A mutation in the human ryanodine receptor gene associated with central core disease. 6
8220422 1993
19
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. 61
33458582 2020
20
Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker. 61
30959043 2019
21
[Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil]. 61
30935497 2019
22
Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy. 61
29465616 2018
23
Central core myopathy with autophagy. 61
28164363 2017
24
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases. 61
24950660 2014
25
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 61
23394784 2013
26
First branchial arch syndrome with central core myopathy presenting with bilateral congenital ptosis. 61
23738416 2012
27
A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility. 61
22030266 2012
28
RYR1-related central core myopathy in a Chinese adolescent boy. 61
21282829 2011
29
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy. 61
20452790 2011
30
Myotubular/centronuclear myopathy and central core disease. 61
18974559 2008
31
Animal models for genetic neuromuscular diseases. 61
18202836 2008
32
Congenital myopathies. 61
18367042 2008
33
[Central core myopathy: a juvenile and adult disease]. 61
17235422 2007
34
The role of muscle biopsy in investigating isolated muscle pain. 61
17224570 2007
35
Inherited myopathy in a young Great Dane. 61
17017655 2006
36
Inherited myopathy of great Danes. 61
16674719 2006
37
Congenital myopathies. 61
14683632 2004
38
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? 61
14732615 2004
39
Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy. 61
14516314 2003
40
The myopathology of floppy and hypotonic infants in Singapore. 61
14555385 2003
41
Ankylosing spondylitis and central core disease: case report. 61
14513182 2003
42
Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. 61
12899871 2003
43
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. 61
12480088 2003
44
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. 61
12112081 2002
45
[Myopathy, central core disease type]. 61
11528721 2001
46
Segregation of malignant hyperthermia, central core disease and chromosome 19 markers. 61
10618932 1999
47
[Molecular pathology of malignant hyperthermia and central core disease]. 61
9436456 1997
48
[A 34-year-old woman with delayed motor milestones, high arched palate, and proximal muscle weakness]. 61
8753005 1996
49
Congenital myopathies. 61
8114781 1994
50
[Central core myopathy. A review of its complications]. 61
8250444 1993

Variations for Central Core Myopathy

ClinVar genetic disease variations for Central Core Myopathy:

6 (show top 50) (show all 559)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) SNV Pathogenic 65927 rs118192158 19:39076592-39076592 19:38585952-38585952
2 RYR1 NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) SNV Pathogenic 65932 rs118192160 19:38933001-38933001 19:38442361-38442361
3 RYR1 NM_000540.2(RYR1):c.7635G>C (p.Glu2545Asp) SNV Pathogenic 65933 rs193922820 19:38993167-38993167 19:38502527-38502527
4 RYR1 NM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys) SNV Pathogenic 65934 rs118192133 19:39062812-39062812 19:38572172-38572172
5 RYR1 NM_000540.2(RYR1):c.1534G>A (p.Glu512Lys) SNV Pathogenic 65935 rs118192119 19:38945968-38945968 19:38455328-38455328
6 RYR1 NM_000540.2(RYR1):c.14762T>C (p.Phe4921Ser) SNV Pathogenic 65939 rs118192156 19:39075698-39075698 19:38585058-38585058
7 RYR1 NM_000540.2(RYR1):c.644G>A (p.Gly215Glu) SNV Pathogenic 65940 rs118192115 19:38937124-38937124 19:38446484-38446484
8 RYR1 NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp) SNV Pathogenic 65941 rs118192135 19:39062825-39062825 19:38572185-38572185
9 RYR1 NM_000540.2(RYR1):c.13912G>A (p.Gly4638Ser) SNV Pathogenic 65943 rs118192136 19:39062824-39062824 19:38572184-38572184
10 RYR1 NM_000540.2(RYR1):c.14671G>C (p.Gly4891Arg) SNV Pathogenic 65945 rs118192149 19:39075607-39075607 19:38584967-38584967
11 RYR1 NM_000540.2(RYR1):c.14690G>T (p.Gly4897Val) SNV Pathogenic 65947 rs118192148 19:39075626-39075626 19:38584986-38584986
12 RYR1 NM_000540.2(RYR1):c.14696G>A (p.Gly4899Glu) SNV Pathogenic 65948 rs118192183 19:39075632-39075632 19:38584992-38584992
13 RYR1 NM_000540.2(RYR1):c.13952A>C (p.His4651Pro) SNV Pathogenic 65951 rs118192139 19:39062864-39062864 19:38572224-38572224
14 RYR1 NM_000540.2(RYR1):c.14659C>T (p.His4887Tyr) SNV Pathogenic 65952 rs118192147 19:39075595-39075595 19:38584955-38584955
15 RYR1 NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr) SNV Pathogenic 65953 rs118192123 19:38991280-38991280 19:38500640-38500640
16 RYR1 NM_000540.2(RYR1):c.14814C>G (p.Ile4938Met) SNV Pathogenic 65955 rs118192159 19:39076588-39076588 19:38585948-38585948
17 RYR1 NM_000540.2(RYR1):c.10100A>G (p.Lys3367Arg) SNV Pathogenic 65956 rs118192126 19:39009935-39009935 19:38519295-38519295
18 RYR1 NM_000540.2(RYR1):c.14170A>C (p.Lys4724Gln) SNV Pathogenic 65957 rs118192141 19:39066599-39066599 19:38575959-38575959
19 RYR1 NM_000540.2(RYR1):c.10817T>C (p.Leu3606Pro) SNV Pathogenic 65958 rs118192127 19:39018417-39018417 19:38527777-38527777
20 RYR1 NM_000540.2(RYR1):c.13703T>C (p.Leu4568Pro) SNV Pathogenic 65959 rs118192131 19:39061290-39061290 19:38570650-38570650
21 RYR1 NM_000540.2(RYR1):c.14378T>C (p.Leu4793Pro) SNV Pathogenic 65962 rs118192179 19:39070635-39070635 19:38579995-38579995
22 RYR1 NM_000540.2(RYR1):c.14440C>T (p.Leu4814Phe) SNV Pathogenic 65964 rs118192142 19:39070697-39070697 19:38580057-38580057
23 RYR1 NM_000540.2(RYR1):c.1205T>C (p.Met402Thr) SNV Pathogenic 42099 rs118192117 19:38942486-38942486 19:38451846-38451846
24 RYR1 NM_000540.2(RYR1):c.6847A>C (p.Asn2283His) SNV Pathogenic 65968 rs118192121 19:38987550-38987550 19:38496910-38496910
25 RYR1 NM_000540.2(RYR1):c.14572A>G (p.Asn4858Asp) SNV Pathogenic 65969 rs118192144 19:39071070-39071070 19:38580430-38580430
26 RYR1 NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) SNV Pathogenic 12973 rs118192175 19:38985204-38985204 19:38494564-38494564
27 RYR1 NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) SNV Pathogenic 65979 rs118192124 19:38991276-38991276 19:38500636-38500636
28 RYR1 NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) SNV Pathogenic 65980 rs118192122 19:38991283-38991283 19:38500643-38500643
29 RYR1 NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) SNV Pathogenic 65981 rs118192178 19:38991538-38991538 19:38500898-38500898
30 RYR1 NM_000540.2(RYR1):c.8816G>A (p.Arg2939Lys) SNV Pathogenic 65982 rs118192125 19:38997592-38997592 19:38506952-38506952
31 RYR1 NM_000540.2(RYR1):c.14473C>T (p.Arg4825Cys) SNV Pathogenic 65985 rs118192180 19:39070730-39070730 19:38580090-38580090
32 RYR1 NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) SNV Pathogenic 65986 rs118192181 19:39071079-39071079 19:38580439-38580439
33 RYR1 NM_000540.2(RYR1):c.14678G>C (p.Arg4893Pro) SNV Pathogenic 65987 rs118192151 19:39075614-39075614 19:38584974-38584974
34 RYR1 NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) SNV Pathogenic 65988 rs118192151 19:39075614-39075614 19:38584974-38584974
35 RYR1 NM_000540.2(RYR1):c.14677C>T (p.Arg4893Trp) SNV Pathogenic 65989 rs118192150 19:39075613-39075613 19:38584973-38584973
36 RYR1 NM_000540.2(RYR1):c.14740A>G (p.Arg4914Gly) SNV Pathogenic 65990 rs118192184 19:39075676-39075676 19:38585036-38585036
37 RYR1 NM_000540.2(RYR1):c.14741G>C (p.Arg4914Thr) SNV Pathogenic 65991 rs118192154 19:39075677-39075677 19:38585037-38585037
38 RYR1 NM_000540.2(RYR1):c.1280C>T (p.Ser427Leu) SNV Pathogenic 65992 rs118192118 19:38943494-38943494 19:38452854-38452854
39 RYR1 NM_000540.2(RYR1):c.212C>A (p.Ser71Tyr) SNV Pathogenic 65993 rs118192113 19:38933035-38933035 19:38442395-38442395
40 RYR1 NM_000540.2(RYR1):c.13910C>T (p.Thr4637Ile) SNV Pathogenic 65995 rs118192134 19:39062822-39062822 19:38572182-38572182
41 RYR1 NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) SNV Pathogenic 65996 rs118192140 19:39063944-39063944 19:38573304-38573304
42 RYR1 NM_000540.2(RYR1):c.14759C>A (p.Thr4920Asn) SNV Pathogenic 65997 rs118192155 19:39075695-39075695 19:38585055-38585055
43 RYR1 NM_001042723.2(RYR1):c.14758_14763GTCATC[1] (p.4920_4921VI[1]) Microsatellite Pathogenic 66001 rs193922893 19:39075707-39075712 19:38585067-38585072
44 RYR1 NM_000540.2(RYR1):c.13891T>A (p.Tyr4631Asn) SNV Pathogenic 66002 rs118192132 19:39062803-39062803 19:38572163-38572163
45 RYR1 NM_000540.2(RYR1):c.14591A>G (p.Tyr4864Cys) SNV Pathogenic 66004 rs118192146 19:39071089-39071089 19:38580449-38580449
46 RYR1 NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) SNV Pathogenic 12974 rs118192163 19:38985205-38985205 19:38494565-38494565
47 RYR1 NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) SNV Pathogenic 12975 rs118192170 19:39075629-39075629 19:38584989-38584989
48 RYR1 NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) SNV Pathogenic 12979 rs118192167 19:39070644-39070644 19:38580004-38580004
49 RYR1 NM_001042723.2(RYR1):c.12625_12633del (p.Arg4209_Phe4211del) Deletion Pathogenic 12981 rs118192165 19:39055614-39055622 19:38564974-38564982
50 RYR1 NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) SNV Pathogenic 12982 rs63749869 19:39071080-39071080 19:38580440-38580440

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 TRDN RYR3 RYR2 RYR1 FKBP1B ATP13A4
2
Show member pathways
12.43 RYR3 RYR2 RYR1 CACNA1S
3
Show member pathways
12.29 RYR3 RYR2 RYR1 FKBP1A CASQ1 CACNA1S
4
Show member pathways
12.27 RYR3 RYR2 RYR1 CACNA1S
5
Show member pathways
12.2 TRDN RYR3 RYR2 RYR1 FKBP1B ATP13A4
6
Show member pathways
12 TRDN RYR3 RYR2 RYR1 NEB FKBP1B
7 11.89 RYR3 RYR2 RYR1 CACNA1S
8 11.88 TRDN RYR3 RYR2 RYR1 CASQ1 CACNA1S
9 11.84 RYR3 RYR2 RYR1
10 11.64 TRDN RYR2 CACNA1S ASPH
11 11.38 RYR2 FKBP1B CASQ1
12 11.25 RYR3 RYR2 RYR1 CACNA1S
13 10.66 RYR3 RYR2 RYR1
14 10.57 RYR1 CACNA1S

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 membrane GO:0016020 10.4 TRDN STAC3 SELENON RYR3 RYR2 RYR1
2 endoplasmic reticulum GO:0005783 10.08 TRDN SELENON RYR3 CLN8 CASQ1 ASPH
3 sarcolemma GO:0042383 9.83 STAC3 RYR3 RYR2 RYR1 CASQ1
4 smooth endoplasmic reticulum GO:0005790 9.71 RYR3 RYR2 RYR1 CASQ1
5 Z disc GO:0030018 9.7 RYR3 RYR2 RYR1 NEB FKBP1B FKBP1A
6 T-tubule GO:0030315 9.69 STAC3 CASQ1 CACNA1S
7 I band GO:0031674 9.65 RYR1 CASQ1 CACNA1S
8 calcium channel complex GO:0034704 9.65 RYR3 RYR2 RYR1 FKBP1B ASPH
9 sarcoplasmic reticulum lumen GO:0033018 9.63 TRDN CASQ1 ASPH
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.62 TRDN RYR2 RYR1 ASPH
11 sarcoplasmic reticulum GO:0016529 9.56 TRDN RYR3 RYR2 RYR1 FKBP1B FKBP1A
12 terminal cisterna GO:0014802 9.54 RYR1 FKBP1A CASQ1
13 ryanodine receptor complex GO:1990425 9.49 RYR1 FKBP1A
14 sarcoplasmic reticulum membrane GO:0033017 9.23 TRDN RYR3 RYR2 RYR1 FKBP1B FKBP1A

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.87 RYR3 RYR2 RYR1 CACNA1S
2 muscle contraction GO:0006936 9.83 TRDN RYR1 CACNA1S ASPH
3 cellular response to calcium ion GO:0071277 9.8 RYR3 RYR1 ASPH
4 cellular calcium ion homeostasis GO:0006874 9.8 TRDN RYR3 RYR2 RYR1 ATP13A4
5 regulation of cytosolic calcium ion concentration GO:0051480 9.75 RYR2 RYR1 FKBP1B
6 release of sequestered calcium ion into cytosol GO:0051209 9.73 RYR3 RYR2 RYR1 FKBP1B
7 calcium ion transmembrane transport GO:0070588 9.73 RYR3 RYR2 RYR1 FKBP1A CACNA1S ASPH
8 skeletal muscle fiber development GO:0048741 9.69 STAC3 SELENON RYR1
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 RYR2 FKBP1B ASPH
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.67 TRDN FKBP1B CASQ1 ASPH
11 calcium-mediated signaling using intracellular calcium source GO:0035584 9.65 RYR2 FKBP1B
12 protein refolding GO:0042026 9.65 FKBP1B FKBP1A
13 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.65 TRDN FKBP1B FKBP1A
14 regulation of release of sequestered calcium ion into cytosol GO:0051279 9.64 TRDN CASQ1
15 cellular protein catabolic process GO:0044257 9.64 PPT1 CLN8
16 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.63 RYR2 FKBP1B
17 detection of calcium ion GO:0005513 9.63 RYR2 ASPH
18 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.63 TRDN RYR2 RYR1
19 response to redox state GO:0051775 9.62 RYR2 FKBP1B
20 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.62 SELENON FKBP1B FKBP1A ASPH
21 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.61 TRDN ASPH
22 response to caffeine GO:0031000 9.61 RYR2 RYR1
23 protein maturation by protein folding GO:0022417 9.6 FKBP1B FKBP1A
24 regulation of cell communication by electrical coupling GO:0010649 9.59 TRDN ASPH
25 negative regulation of release of sequestered calcium ion into cytosol GO:0051280 9.58 FKBP1B FKBP1A
26 positive regulation of sequestering of calcium ion GO:0051284 9.56 RYR2 FKBP1B
27 ion transmembrane transport GO:0034220 9.56 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ1
28 cellular macromolecule catabolic process GO:0044265 9.55 PPT1 CLN8
29 'de novo' protein folding GO:0006458 9.54 FKBP1B FKBP1A
30 cellular response to caffeine GO:0071313 9.46 RYR3 RYR2 RYR1 CACNA1S
31 regulation of cardiac conduction GO:1903779 9.17 TRDN RYR3 RYR2 RYR1 FKBP1B CASQ1

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 9.85 SELENON RYR3 RYR2 RYR1 CASQ1 ASPH
2 calmodulin binding GO:0005516 9.73 RYR3 RYR2 RYR1 CACNA1S
3 ion channel activity GO:0005216 9.71 RYR3 RYR2 RYR1 CACNA1S
4 calcium channel activity GO:0005262 9.62 RYR3 RYR2 RYR1 CACNA1S
5 ion channel binding GO:0044325 9.55 TRDN RYR2 FKBP1B FKBP1A ASPH
6 calcium channel inhibitor activity GO:0019855 9.48 FKBP1B FKBP1A
7 FK506 binding GO:0005528 9.46 FKBP1B FKBP1A
8 calcium-release channel activity GO:0015278 9.43 RYR3 RYR2 RYR1
9 calcium-induced calcium release activity GO:0048763 9.13 RYR3 RYR2 RYR1
10 ryanodine-sensitive calcium-release channel activity GO:0005219 8.92 RYR3 RYR2 RYR1 FKBP1B

Sources for Central Core 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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