MCID: CNT009
MIFTS: 26

Central Core Myopathy malady

Summaries for Central Core Myopathy

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MalaCards based summary: Central Core Myopathy, also known as central core disease, is related to central core disease and malignant hyperthermia. 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 compounds procaine and ruthenium have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are behavior/neurological and muscle.

Aliases & Classifications for Central Core Myopathy

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Central Core Myopathy, Aliases & Descriptions:

Name: Central Core Myopathy 9 11 60
 
Central Core Disease 9


External Ids:

Disease Ontology9 DOID:3529
NCIt38 C83010
SNOMED-CT55 43152001
MeSH33 D020512

Related Diseases for Central Core Myopathy

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Graphical network of diseases related to Central Core Myopathy:



Diseases related to central core myopathy

Symptoms for Central Core Myopathy

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Drugs & Therapeutics for Central Core Myopathy

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Drug clinical trials:

Search ClinicalTrials for Central Core Myopathy

Search NIH Clinical Center for Central Core Myopathy

Genetic Tests for Central Core Myopathy

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Anatomical Context for Central Core Myopathy

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MalaCards organs/tissues related to Central Core Myopathy:

31
Skeletal muscle

Animal Models for Central Core Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Central Core Myopathy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.5RYR3, RYR1, RYR2
2MP:00053698.2RYR3, RYR1, RYR2

Publications for Central Core Myopathy

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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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Clinvar genetic disease variations for Central Core Myopathy:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR1NM_000540.2(RYR1): c.487C> T (p.Arg163Cys)single nucleotide variantPathogenic, risk factorrs118192161GRCh37Chr 19, 38934851: 38934851
2RYR1NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys)single nucleotide variantPathogenic, risk factorrs118192175GRCh37Chr 19, 38985204: 38985204
3RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenic, risk factorrs118192163GRCh37Chr 19, 38985205: 38985205
4RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenic, risk factorrs118192170GRCh37Chr 19, 39075629: 39075629
5RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenic, risk factorrs118192167GRCh37Chr 19, 39070644: 39070644
6RYR1NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del)deletionPathogenicrs118192169GRCh37Chr 19, 39071085: 39071105
7RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenic, risk factorrs118192162GRCh37Chr 19, 38945999: 38945999
8RYR1NP_000531.2: p.4894Qundetermined variantPathogenic
9RYR1NP_000531.2: p.F4808Pundetermined variantPathogenic
10RYR1NP_000531.2: p.F4860deldeletionPathogenic
11RYR1NP_000531.2: p.F4906deldeletionPathogenic
12RYR1NP_000531.2: p.G4638Nundetermined variantPathogenic
13RYR1NP_000531.2: p.G4890Rundetermined variantPathogenic
14RYR1NP_000531.2: p.G4893Rundetermined variantPathogenic
15RYR1NP_000531.2: p.G4899Rundetermined variantPathogenic
16RYR1NP_000531.2: p.L4647del2deletionPathogenic
17RYR1NP_000531.2: p.L4796Cundetermined variantPathogenic
18RYR1NP_000531.2: p.M2434Kundetermined variantPathogenic
19RYR1NP_000531.2: p.N4939Qundetermined variantPathogenic
20RYR1NP_000531.2: p.Q160Gundetermined variantPathogenic
21RYR1NP_000531.2: p.Q474Hundetermined variantPathogenic
22RYR1NP_000531.2: p.Q512Kundetermined variantPathogenic
23RYR1NP_000531.2: p.R146Cundetermined variantPathogenic
24RYR1NP_000531.2: p.R2434Hundetermined variantPathogenic
25RYR1NP_000531.2: p.V4849Rundetermined variantPathogenic

Expression for genes affiliated with Central Core Myopathy

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

Pathways for genes affiliated with Central Core Myopathy

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

(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
38.5RYR2, RYR1, RYR3
4
Show member pathways
Calcium Regulation in the Cardiac Cell36
8.5RYR2, RYR1, RYR3
58.5RYR2, RYR1, RYR3
6
Show member pathways
8.5RYR3, RYR1, RYR2
7
Show member pathways
8.5RYR3, RYR1, RYR2
8
Show member pathways
8.5RYR3, RYR1, RYR2
9
Show member pathways
8.5RYR3, RYR1, RYR2
10
Show member pathways
8.5RYR3, RYR1, RYR2
118.5RYR3, RYR1, RYR2
12
Show member pathways
8.5RYR3, RYR1, RYR2
13
Show member pathways
8.5RYR3, RYR1, RYR2

Compounds for genes affiliated with Central Core Myopathy

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

(show all 24)
idCompoundScoreTop Affiliating Genes
1procaine43 28 1211.6RYR1, RYR2
2ruthenium439.6RYR1, RYR2
3carvedilol43 49 28 1212.6RYR1, RYR2
4suramin43 28 1211.5RYR1, RYR2
5isoproterenol43 1210.4RYR1, RYR2
6thapsigargin43 5910.4RYR1, RYR2
7chloride439.3RYR1, RYR2
8potassium43 24 1211.3RYR1, RYR2
9phospholipid439.2RYR2, RYR1
104-chloro-m-cresol438.9RYR3, RYR1, RYR2
11cyclic adp-ribose438.9RYR3, RYR1, RYR2
12dantrolene28 43 1210.9RYR2, RYR1, RYR3
13ruthenium red288.9RYR2, RYR1, RYR3
14mg2+288.8RYR3, RYR1, RYR2
15ca2+288.8RYR2, RYR1, RYR3
16ryanodine43 28 5910.8RYR3, RYR1, RYR2
17neomycin438.8RYR3, RYR1, RYR2
18caffeine43 28 2 49 24 1213.8RYR2, RYR1, RYR3
19inositol 1,4,5 trisphosphate438.8RYR3, RYR1, RYR2
20tacrolimus43 49 1210.8RYR2, RYR1, RYR3
21magnesium43 24 1210.7RYR2, RYR1, RYR3
22atp43 289.7RYR3, RYR1, RYR2
23lipid438.7RYR2, RYR1, RYR3
24calcium43 49 24 1211.2RYR3, RYR1, RYR2

GO Terms for genes affiliated with Central Core Myopathy

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

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulumGO:00165299.3RYR1, RYR2
2junctional sarcoplasmic reticulum membraneGO:00147019.0RYR1, RYR2
3junctional membrane complexGO:00303148.9RYR3, RYR1
4sarcoplasmic reticulum membraneGO:00330178.5RYR3, RYR1, RYR2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00148089.5RYR2, RYR1
2response to caffeineGO:00310009.4RYR2, RYR1
3cytosolic calcium ion homeostasisGO:00514809.3RYR1, RYR2
4response to hypoxiaGO:00016669.3RYR2, RYR1
5release of sequestered calcium ion into cytosolGO:00512099.2RYR1, RYR2
6cellular response to caffeineGO:00713138.7RYR2, RYR1, RYR3
7calcium ion transportGO:00068168.7RYR3, RYR1, RYR2
8ion transmembrane transportGO:00342208.6RYR2, RYR1, RYR3
9transmembrane transportGO:00550858.2RYR2, RYR1, RYR3

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

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:00052629.3RYR2, RYR1
2calcium-induced calcium release activityGO:00487639.1RYR3, RYR2
3ryanodine-sensitive calcium-release channel activityGO:00052198.6RYR3, RYR1, RYR2
4calcium-release channel activityGO:00152788.6RYR2, RYR1, RYR3
5calmodulin bindingGO:00055168.4RYR1, RYR2, RYR3
6calcium ion bindingGO:00055098.2RYR2, RYR1, RYR3

Products for genes affiliated with Central Core Myopathy

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  • Antibodies
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  • Kits and Assays

Sources for Central Core Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet