CCD
MCID: CNT009
MIFTS: 61

Central Core Myopathy (CCD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Central Core Myopathy

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Central core disease (ccd) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications.  muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected.  muscle weakness in ccd usually does not worsen over time.  skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures).  some individuals with ccd have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat.  ryr1 is the only gene associated with ccd and clinical testing is available to look for disease-causing alterations in this gene known as mutations. last updated: 9/8/2011

MalaCards: Central Core Myopathy, also known as central core disease, is related to malignant hyperthermia and cleidocranial dysplasia, and has symptoms including strabismus/squint, hyperextensible joints/articular hyperlaxity and abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase. An important gene associated with Central Core Myopathy is RYR1 (ryanodine receptor 1 (skeletal)), and among its related pathways are Ca-dependent events and CREB Pathway. The drug medium chain triglycerides and the compounds procaine and ruthenium have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and lung, and related mouse phenotypes are behavior/neurological and muscle.

Genetics Home Reference:22 Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe.

Wikipedia:66 Central core disease (CCD), also known as central core myopathy, is an autosomal dominantcongenital... more...

Description from OMIM:48 117000,255320,607552,602771

GeneReviews summary for cco

Aliases & Classifications for Central Core Myopathy

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9Disease Ontology, 10diseasecard, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
central core disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Childhood; Age of death: Normal
multiminicore myopathy:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

central core myopathy 9 22 11 63
central core disease 9 10 20 44 21 23 22 48 46 50
myopathy, central core 44 22
shy-magee syndrome 44 22
ccd 44 22
cco 44 22
moderate multiminicore disease with hand involvement 50
central core disease of muscle 44
muscular central core disease 44
myopathy, central fibrillar 44
multiminicore myopathy 50
multiminicore disease 50
muscle core disease 44
celiac disease 63
mmd 50


External Ids:

Disease Ontology9 DOID:3529
MeSH36 D020512
NCIt41 C83010
SNOMED-CT59 43152001
ICD10 via Orphanet27 G71.2

Related Diseases for Central Core Myopathy

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18GeneCards, 19GeneDecks
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Diseases related to Central Core Myopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia30.2RYR2, RYR3, RYR1
2cleidocranial dysplasia10.5
3myopathy10.5
4multiminicore disease10.3
5ryr1-related multiminicore disease10.2
6sepn1-related multiminicore disease10.2
7minicore myopathy, antenatal onset, with arthrogryposis10.2
8rigid spine syndrome10.2
9muscular atrophy10.2
10spinal muscular atrophy10.2
11malignant hyperthermia susceptibility10.2
12minicore myopathy with external ophthalmoplegia10.2
13congenital chloride diarrhea10.2
14root resorption10.2
15fibrosarcoma10.1
16catecholaminergic polymorphic ventricular tachycardia10.1RYR2
17muscular dystrophy10.0
18respiratory failure10.0
19left ventricular noncompaction10.0
20clubfoot10.0
21hypertrophic cardiomyopathy10.0
22nemaline myopathy10.0
23centronuclear myopathy10.0
24neuromuscular disease10.0
25diploid-triploid mosaicism10.0
26king denborough syndrome10.0
27congenital neuromuscular disease with uniform type 1 fiber10.0
28propionic acidemia10.0
29methylmalonic acidemia10.0
30mood disorder10.0
31miyoshi myopathy10.0
32antenatal multiminicore disease with arthrogryposis multiplex congenita10.0
33enamel caries10.0
34guanidinoacetate methyltransferase deficiency10.0
35dysostosis10.0
36intellectual disability10.0
37arrhythmogenic right ventricular dysplasia10.0RYR1, RYR2
38sudden cardiac death multi-gene panels10.0RYR2, RYR1
39dilated cardiomyopathy10.0RYR2, RYR1
40congenital heart disease10.0RYR1, RYR2
41noonan syndrome10.0RYR1, RYR2

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



Diseases related to central core myopathy

Symptoms for Central Core Myopathy

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

117000

Clinical features from OMIM:

117000,255320,607552,602771

Symptoms:

50 (show all 10)
  • strabismus/squint
  • hyperextensible joints/articular hyperlaxity
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • myopathy
  • restricted joint mobility/joint stiffness/ankylosis
  • hypotonia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • autosomal dominant inheritance
  • scoliosis
  • autosomal recessive inheritance

Drugs & Therapeutics for Central Core Myopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Central Core Myopathy

Drug clinical trials:

Search ClinicalTrials for Central Core Myopathy

Search NIH Clinical Center for Central Core Myopathy

Search CenterWatch for Central Core Myopathy

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Central Core Myopathy

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21GeneTests, 23GTR
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Genetic tests related to Central Core Myopathy:

id Genetic test Affiliating Genes
1 Central Core Disease21 23 RYR1

Anatomical Context for Central Core Myopathy

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34MalaCards
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MalaCards organs/tissues related to Central Core Myopathy:

34
Heart, Testes, Lung, Skeletal muscle

Animal Models for Central Core Myopathy or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Central Core Myopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5RYR3, RYR1, RYR2
2MP:00053698.2RYR3, RYR1, RYR2

Publications for Central Core Myopathy

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Sources:
53PubMed
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Articles related to Central Core Myopathy:

idTitleAuthorsYear
1
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
2
First branchial arch syndrome with central core myopathy presenting with bilateral congenital ptosis. (23738416)
2012
3
RYR1-related central core myopathy in a Chinese adolescent boy. (21282829)
2011
4
Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy. (20452790)
2011

Variations for Central Core Myopathy

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Central Core Myopathy:

65 (show all 52)
id Symbol AA change Variation ID SNP ID
1RYR1p.Arg163CysVAR_005590
2RYR1p.Ile403MetVAR_005593
3RYR1p.Tyr522SerVAR_005595
4RYR1p.Arg614CysVAR_005597rs28933996
5RYR1p.Arg2163HisVAR_005602rs28933999
6RYR1p.Val2168MetVAR_005603
7RYR1p.Arg2435HisVAR_005606rs28933396
8RYR1p.Arg2454HisVAR_008976
9RYR1p.Met2423LysVAR_032915
10RYR1p.Leu13ValVAR_045694
11RYR1p.Arg44CysVAR_045695
12RYR1p.Glu160GlyVAR_045696
13RYR1p.Gly215GluVAR_045702
14RYR1p.Gly1704SerVAR_045709
15RYR1p.Ala2421ProVAR_045724
16RYR1p.Pro3527SerVAR_045732
17RYR1p.Arg3539HisVAR_045733rs143987857
18RYR1p.Arg3772GlnVAR_045734
19RYR1p.Arg4558GlnVAR_045739
20RYR1p.Thr4637AlaVAR_045740
21RYR1p.Gly4638AspVAR_045742
22RYR1p.Leu4650ProVAR_045744
23RYR1p.His4651ProVAR_045745
24RYR1p.Lys4724GlnVAR_045748
25RYR1p.Leu4793ProVAR_045751
26RYR1p.Tyr4796CysVAR_045752
27RYR1p.Leu4814PheVAR_045753
28RYR1p.Arg4825CysVAR_045755
29RYR1p.Val4842MetVAR_045758
30RYR1p.Ala4846ValVAR_045759
31RYR1p.Val4849IleVAR_045760
32RYR1p.Arg4861CysVAR_045762
33RYR1p.Arg4861HisVAR_045763
34RYR1p.Tyr4864CysVAR_045765
35RYR1p.Gly4891ArgVAR_045767
36RYR1p.Arg4893GlnVAR_045768
37RYR1p.Arg4893TrpVAR_045769
38RYR1p.Gly4897ValVAR_045770
39RYR1p.Ile4898ThrVAR_045771
40RYR1p.Gly4899GluVAR_045772
41RYR1p.Gly4899ArgVAR_045773
42RYR1p.Ala4906ValVAR_045774
43RYR1p.Arg4914GlyVAR_045775
44RYR1p.Arg4914ThrVAR_045776
45RYR1p.Ile4938MetVAR_045778
46RYR1p.Ala4940ThrVAR_045780
47RYR1p.His2204GlnVAR_068515rs141646642
48RYR1p.Arg2508GlyVAR_068516
49RYR1p.Arg3366HisVAR_068517rs137932199
50RYR1p.Tyr3933CysVAR_068518rs147136339
51RYR1p.Gly4743AspVAR_068520
52RYR1p.Thr4882MetVAR_068521

Clinvar genetic disease variations for Central Core Myopathy:

1 (show all 81)
id Gene Name Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.7304G> A (p.Arg2435His)single nucleotide variantPathogenicrs28933396GRCh37Chr 19, 38990637: 38990637
2RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenic, risk factorrs118192161GRCh37Chr 19, 38934851: 38934851
3RYR1NM_000540.2(RYR1): c.1209C> G (p.Ile403Met)single nucleotide variantPathogenicrs118192116GRCh37Chr 19, 38942490: 38942490
4RYR1NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys)single nucleotide variantPathogenic, risk factorrs118192175GRCh37Chr 19, 38985204: 38985204
5RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenic, risk factorrs118192163GRCh37Chr 19, 38985205: 38985205
6RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenic, risk factorrs118192170GRCh37Chr 19, 39075629: 39075629
7RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenic, risk factorrs118192167GRCh37Chr 19, 39070644: 39070644
8RYR1NM_000540.2(RYR1): c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del)deletionPathogenicrs118192165GRCh37Chr 19, 39055614: 39055622
9RYR1NM_000540.2(RYR1): c.14582G> A (p.Arg4861His)single nucleotide variantPathogenicrs63749869GRCh37Chr 19, 39071080: 39071080
10RYR1NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del)deletionPathogenicrs118192169GRCh37Chr 19, 39071085: 39071105
11RYR1NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala)single nucleotide variantPathogenicrs118192166GRCh37Chr 19, 39062821: 39062821
12RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenic, risk factorrs118192162GRCh37Chr 19, 38945999: 38945999
13RYR1NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr)indelPathogenicrs118192171GRCh37Chr 19, 39075697: 39075698
14RYR1NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)single nucleotide variantPathogenicrs118192117GRCh37Chr 19, 38942486: 38942486
15RYR1NP_000531.2: p.4894Qundetermined variantPathogenic
16RYR1NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr)single nucleotide variantPathogenicrs118192120GRCh37Chr 19, 38973951: 38973951
17RYR1NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp)single nucleotide variantPathogenicrs118192129GRCh37Chr 19, 39055960: 39055960
18RYR1NM_000540.2(RYR1): c.14537C> T (p.Ala4846Val)single nucleotide variantPathogenicrs118192143GRCh37Chr 19, 39071035: 39071035
19RYR1NM_000540.2(RYR1): c.14717C> T (p.Ala4906Val)single nucleotide variantPathogenicrs118192153GRCh37Chr 19, 39075653: 39075653
20RYR1NM_000540.2(RYR1): c.14818G> A (p.Ala4940Thr)single nucleotide variantPathogenicrs118192158GRCh37Chr 19, 39076592: 39076592
21RYR1NM_000540.2(RYR1): c.178G> A (p.Asp60Asn)single nucleotide variantPathogenicrs118192160GRCh37Chr 19, 38933001: 38933001
22RYR1NM_000540.2(RYR1): c.7635G> C (p.Glu2545Asp)single nucleotide variantPathogenicrs193922820GRCh37Chr 19, 38993167: 38993167
23RYR1NM_000540.2(RYR1): c.13900G> A (p.Glu4634Lys)single nucleotide variantPathogenicrs118192133GRCh37Chr 19, 39062812: 39062812
24RYR1NM_000540.2(RYR1): c.1534G> A (p.Glu512Lys)single nucleotide variantPathogenicrs118192119GRCh37Chr 19, 38945968: 38945968
25RYR1NP_000531.2: p.F4808Pundetermined variantPathogenic
26RYR1NP_000531.2: p.F4860deldeletionPathogenic
27RYR1NP_000531.2: p.F4906deldeletionPathogenic
28RYR1NM_000540.2(RYR1): c.14762T> C (p.Phe4921Ser)single nucleotide variantPathogenicrs118192156GRCh37Chr 19, 39075698: 39075698
29RYR1NM_000540.2(RYR1): c.644G> A (p.Gly215Glu)single nucleotide variantPathogenicrs118192115GRCh37Chr 19, 38937124: 38937124
30RYR1NM_000540.2(RYR1): c.13913G> A (p.Gly4638Asp)single nucleotide variantPathogenicrs118192135GRCh37Chr 19, 39062825: 39062825
31RYR1NP_000531.2: p.G4638Nundetermined variantPathogenic
32RYR1NM_000540.2(RYR1): c.13912G> A (p.Gly4638Ser)single nucleotide variantPathogenicrs118192136GRCh37Chr 19, 39062824: 39062824
33RYR1NP_000531.2: p.G4890Rundetermined variantPathogenic
34RYR1NM_000540.2(RYR1): c.14671G> C (p.Gly4891Arg)single nucleotide variantPathogenicrs118192149GRCh37Chr 19, 39075607: 39075607
35RYR1NP_000531.2: p.G4893Rundetermined variantPathogenic
36RYR1NM_000540.2(RYR1): c.14690G> T (p.Gly4897Val)single nucleotide variantPathogenicrs118192148GRCh37Chr 19, 39075626: 39075626
37RYR1NM_000540.2(RYR1): c.14696G> A (p.Gly4899Glu)single nucleotide variantPathogenicrs118192183GRCh37Chr 19, 39075632: 39075632
38RYR1NP_000531.2: p.G4899Rundetermined variantPathogenic
39RYR1NM_000540.2(RYR1): c.13952A> C (p.His4651Pro)single nucleotide variantPathogenicrs118192139GRCh37Chr 19, 39062864: 39062864
40RYR1NM_000540.2(RYR1): c.14659C> T (p.His4887Tyr)single nucleotide variantPathogenicrs118192147GRCh37Chr 19, 39075595: 39075595
41RYR1NM_000540.2(RYR1): c.7358T> C (p.Ile2453Thr)single nucleotide variantPathogenicrs118192123GRCh37Chr 19, 38991280: 38991280
42RYR1NM_000540.2(RYR1): c.14814C> G (p.Ile4938Met)single nucleotide variantPathogenicrs118192159GRCh37Chr 19, 39076588: 39076588
43RYR1NM_000540.2(RYR1): c.10100A> G (p.Lys3367Arg)single nucleotide variantPathogenicrs118192126GRCh37Chr 19, 39009935: 39009935
44RYR1NM_000540.2(RYR1): c.14170A> C (p.Lys4724Gln)single nucleotide variantPathogenicrs118192141GRCh37Chr 19, 39066599: 39066599
45RYR1NM_000540.2(RYR1): c.10817T> C (p.Leu3606Pro)single nucleotide variantPathogenicrs118192127GRCh37Chr 19, 39018417: 39018417
46RYR1NM_000540.2(RYR1): c.13703T> C (p.Leu4568Pro)single nucleotide variantPathogenicrs118192131GRCh37Chr 19, 39061290: 39061290
47RYR1NP_000531.2: p.L4647del2deletionPathogenic
48RYR1NM_000540.2(RYR1): c.13949T> C (p.Leu4650Pro)single nucleotide variantPathogenicrs118192138GRCh37Chr 19, 39062861: 39062861
49RYR1NM_000540.2(RYR1): c.14378T> C (p.Leu4793Pro)single nucleotide variantPathogenicrs118192179GRCh37Chr 19, 39070635: 39070635
50RYR1NP_000531.2: p.L4796Cundetermined variantPathogenic
51RYR1NM_000540.2(RYR1): c.14440C> T (p.Leu4814Phe)single nucleotide variantPathogenicrs118192142GRCh37Chr 19, 39070697: 39070697
52RYR1NP_000531.2: p.M2434Kundetermined variantPathogenic
53RYR1NM_000540.2(RYR1): c.6847A> C (p.Asn2283His)single nucleotide variantPathogenicrs118192121GRCh37Chr 19, 38987550: 38987550
54RYR1NM_000540.2(RYR1): c.14572A> G (p.Asn4858Asp)single nucleotide variantPathogenicrs118192144GRCh37Chr 19, 39071070: 39071070
55RYR1NP_000531.2: p.N4939Qundetermined variantPathogenic
56RYR1NP_000531.2: p.Q160Gundetermined variantPathogenic
57RYR1NP_000531.2: p.Q474Hundetermined variantPathogenic
58RYR1NP_000531.2: p.Q512Kundetermined variantPathogenic
59RYR1NP_000531.2: p.R146Cundetermined variantPathogenic
60RYR1NP_000531.2: p.R2434Hundetermined variantPathogenic
61RYR1NM_000540.2(RYR1): c.7354C> T (p.Arg2452Trp)single nucleotide variantPathogenicrs118192124GRCh37Chr 19, 38991276: 38991276
62RYR1NM_000540.2(RYR1): c.7361G> A (p.Arg2454His)single nucleotide variantPathogenicrs118192122GRCh37Chr 19, 38991283: 38991283
63RYR1NM_000540.2(RYR1): c.7522C> T (p.Arg2508Cys)single nucleotide variantPathogenicrs118192178GRCh37Chr 19, 38991538: 38991538
64RYR1NM_000540.2(RYR1): c.8816G> A (p.Arg2939Lys)single nucleotide variantPathogenicrs118192125GRCh37Chr 19, 38997592: 38997592
65RYR1NM_000540.2(RYR1): c.13673G> A (p.Arg4558Gln)single nucleotide variantPathogenicrs118192130GRCh37Chr 19, 39061260: 39061260
66RYR1NM_000540.2(RYR1): c.14473C> T (p.Arg4825Cys)single nucleotide variantPathogenicrs118192180GRCh37Chr 19, 39070730: 39070730
67RYR1NM_000540.2(RYR1): c.14581C> T (p.Arg4861Cys)single nucleotide variantPathogenicrs118192181GRCh37Chr 19, 39071079: 39071079
68RYR1NM_000540.2(RYR1): c.14678G> C (p.Arg4893Pro)single nucleotide variantPathogenicrs118192151GRCh37Chr 19, 39075614: 39075614
69RYR1NM_000540.2(RYR1): c.14678G> A (p.Arg4893Gln)single nucleotide variantPathogenicrs118192151GRCh37Chr 19, 39075614: 39075614
70RYR1NM_000540.2(RYR1): c.14677C> T (p.Arg4893Trp)single nucleotide variantPathogenicrs118192150GRCh37Chr 19, 39075613: 39075613
71RYR1NM_000540.2(RYR1): c.14740A> G (p.Arg4914Gly)single nucleotide variantPathogenicrs118192184GRCh37Chr 19, 39075676: 39075676
72RYR1NM_000540.2(RYR1): c.14741G> C (p.Arg4914Thr)single nucleotide variantPathogenicrs118192154GRCh37Chr 19, 39075677: 39075677
73RYR1NM_000540.2(RYR1): c.1280C> T (p.Ser427Leu)single nucleotide variantPathogenicrs118192118GRCh37Chr 19, 38943494: 38943494
74RYR1NM_000540.2(RYR1): c.212C> A (p.Ser71Tyr)single nucleotide variantPathogenicrs118192113GRCh37Chr 19, 38933035: 38933035
75RYR1NM_000540.2(RYR1): c.13910C> T (p.Thr4637Ile)single nucleotide variantPathogenicrs118192134GRCh37Chr 19, 39062822: 39062822
76RYR1NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met)single nucleotide variantPathogenicrs118192140GRCh37Chr 19, 39063944: 39063944
77RYR1NM_000540.2(RYR1): c.14759C> A (p.Thr4920Asn)single nucleotide variantPathogenicrs118192155GRCh37Chr 19, 39075695: 39075695
78RYR1NP_000531.2: p.V4849Rundetermined variantPathogenic
79RYR1NM_000540.2(RYR1): c.14779_14784delGTCATC (p.Val4927_Ile4928del)deletionPathogenicrs193922893GRCh37Chr 19, 39075715: 39075720
80RYR1NM_000540.2(RYR1): c.13891T> A (p.Tyr4631Asn)single nucleotide variantPathogenicrs118192132GRCh37Chr 19, 39062803: 39062803
81RYR1NM_000540.2(RYR1): c.14591A> G (p.Tyr4864Cys)single nucleotide variantPathogenicrs118192146GRCh37Chr 19, 39071089: 39071089

Expression for genes affiliated with Central Core Myopathy

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Central Core Myopathy

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

Pathways for genes affiliated with Central Core Myopathy

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Sources:
51PathCards, 56Reactome, 61Thomson Reuters, 54QIAGEN, 31KEGG, 39NCBI BioSystems Database
See all sources

Pathways related to Central Core Myopathy according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3RYR1, RYR2
2
Show member pathways
8.5RYR2, RYR1, RYR3
3
Show member pathways
8.5RYR3, RYR1, RYR2
4
Show member pathways
8.5RYR1, RYR3, RYR2
5
Show member pathways
8.5RYR3, RYR1, RYR2
6
Show member pathways
8.5RYR1, RYR3, RYR2
7
Show member pathways
Calcium Regulation in the Cardiac Cell39
8.5RYR3, RYR2, RYR1
8
Show member pathways
8.5RYR3, RYR1, RYR2
98.5RYR2, RYR3, RYR1
108.5RYR2, RYR3, RYR1
11
Show member pathways
8.5RYR3, RYR1, RYR2
12
Show member pathways
8.5RYR3, RYR1, RYR2
138.5RYR3, RYR1, RYR2

Compounds for genes affiliated with Central Core Myopathy

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 25HMDB, 3BitterDB
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Compounds related to Central Core Myopathy according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1procaine46 30 1211.6RYR1, RYR2
2ruthenium469.6RYR1, RYR2
3carvedilol46 52 30 1212.6RYR1, RYR2
4suramin46 30 1211.5RYR1, RYR2
5isoproterenol46 1210.4RYR1, RYR2
6thapsigargin46 6210.4RYR1, RYR2
7chloride469.3RYR1, RYR2
8potassium46 25 1211.3RYR1, RYR2
9phospholipid469.2RYR2, RYR1
104-chloro-m-cresol468.9RYR3, RYR1, RYR2
11cyclic adp-ribose468.9RYR3, RYR1, RYR2
12dantrolene30 46 1210.9RYR2, RYR1, RYR3
13ruthenium red308.9RYR2, RYR1, RYR3
14mg2+308.8RYR3, RYR1, RYR2
15ca2+308.8RYR2, RYR1, RYR3
16ryanodine46 30 6210.8RYR3, RYR1, RYR2
17neomycin468.8RYR3, RYR1, RYR2
18caffeine46 30 3 52 25 1213.8RYR2, RYR1, RYR3
19inositol 1,4,5 trisphosphate468.8RYR3, RYR1, RYR2
20tacrolimus46 52 1210.8RYR2, RYR1, RYR3
21magnesium46 25 1210.7RYR2, RYR1, RYR3
22atp46 309.7RYR3, RYR1, RYR2
23lipid468.7RYR2, RYR1, RYR3
24calcium46 52 25 1211.2RYR3, RYR1, RYR2

GO Terms for genes affiliated with Central Core Myopathy

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Sources:
17Gene Ontology
See all sources

Cellular components related to Central Core Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulumGO:0165299.3RYR1, RYR2
2junctional sarcoplasmic reticulum membraneGO:0147019.0RYR1, RYR2
3junctional membrane complexGO:0303148.9RYR3, RYR1
4sarcoplasmic reticulum membraneGO:0330178.5RYR3, RYR1, RYR2

Biological processes related to Central Core Myopathy according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148089.5RYR2, RYR1
2response to caffeineGO:0310009.4RYR2, RYR1
3cytosolic calcium ion homeostasisGO:0514809.3RYR1, RYR2
4response to hypoxiaGO:0016669.3RYR1, RYR2
5release of sequestered calcium ion into cytosolGO:0512099.2RYR1, RYR2
6cellular response to caffeineGO:0713138.7RYR3, RYR1, RYR2
7calcium ion transportGO:0068168.7RYR3, RYR1, RYR2
8ion transmembrane transportGO:0342208.6RYR3, RYR1, RYR2
9transmembrane transportGO:0550858.2RYR2, RYR1, RYR3

Molecular functions related to Central Core Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:0052629.3RYR2, RYR1
2calcium-induced calcium release activityGO:0487639.1RYR3, RYR2
3ryanodine-sensitive calcium-release channel activityGO:0052198.6RYR3, RYR1, RYR2
4calcium-release channel activityGO:0152788.6RYR2, RYR1, RYR3
5calmodulin bindingGO:0055168.4RYR1, RYR2, RYR3
6calcium ion bindingGO:0055098.2RYR2, RYR1, RYR3

Products for genes affiliated with Central Core Myopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Central Core Myopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet