CCD
MCID: CNT009
MIFTS: 61

Central Core Myopathy (CCD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Central Core Myopathy

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NIH Rare Diseases:42 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 based summary: Central Core Myopathy, also known as central core disease, is related to malignant hyperthermia and multiminicore disease, and has symptoms including hypotonia, myopathy 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 compounds procaine and ruthenium have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related mouse phenotypes are behavior/neurological and muscle.

Genetics Home Reference:21 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:65 Central core disease (CCD), also known as central core myopathy, is an autosomal dominantcongenital... more...

Descriptions from OMIM:46 117000,255320,602771,607552

GeneReviews summary for cco

Aliases & Classifications for Central Core Myopathy

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Central Core Myopathy, Aliases & Descriptions:

Name: Central Core Myopathy 8 21 10 62
Central Core Disease 8 9 19 42 20 22 21 46 44 48
Myopathy, Central Core 42 21
Shy-Magee Syndrome 42 21
Ccd 42 21
Cco 42 21
Moderate Multiminicore Disease with Hand Involvement 48
 
Central Core Disease of Muscle 42
Muscular Central Core Disease 42
Myopathy, Central Fibrillar 42
Multiminicore Myopathy 48
Multiminicore Disease 48
Muscle Core Disease 42
Mmd 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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


External Ids:

Disease Ontology8 DOID:3529
NCIt39 C83010
MeSH34 D020512
SNOMED-CT57 43152001
ICD10 via Orphanet26 G71.2

Related Diseases for Central Core Myopathy

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia29.8RYR2, RYR3, RYR1
2multiminicore disease10.7
3cleidocranial dysplasia10.5
4myopathy10.5
5antenatal multiminicore disease with arthrogryposis multiplex congenita10.4
6catecholaminergic polymorphic ventricular tachycardia10.3RYR2
7minicore myopathy with external ophthalmoplegia10.3
8rigid spine syndrome10.2
9ryr1-related multiminicore disease10.2
10sepn1-related multiminicore disease10.2
11minicore myopathy, antenatal onset, with arthrogryposis10.2
12spinal muscular atrophy10.2
13muscular atrophy10.2
14malignant hyperthermia susceptibility10.2
15congenital chloride diarrhea10.2
16root resorption10.2
17fibrosarcoma10.1
18muscular dystrophy10.1
19respiratory failure10.1
20left ventricular noncompaction10.1
21centronuclear myopathy10.1
22clubfoot10.1
23hypertrophic cardiomyopathy10.1
24nemaline myopathy10.1
25neuromuscular disease10.1
26diploid-triploid mosaicism10.1
27king denborough syndrome10.1
28congenital neuromuscular disease with uniform type 1 fiber10.1
29propionic acidemia10.0
30enamel caries10.0
31guanidinoacetate methyltransferase deficiency10.0
32dysostosis10.0
33methylmalonic acidemia10.0
34mood disorder10.0
35miyoshi myopathy10.0
36arrhythmogenic right ventricular cardiomyopathy10.0RYR1, RYR2
37sudden cardiac death multi-gene panels10.0RYR2, RYR1
38dilated cardiomyopathy10.0RYR2, RYR1
39congenital heart disease10.0RYR1, RYR2
40noonan syndrome9.8RYR1, 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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Symptoms by clinical synopsis from OMIM:

117000

Clinical features from OMIM:

117000,255320,602771,607552

Symptoms:

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

HPO human phenotypes related to Central Core Myopathy:

(show all 26)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 myopathy hallmark (90%) HP:0003198
3 myopathy hallmark (90%) HP:0003198
4 strabismus typical (50%) HP:0000486
5 limitation of joint mobility typical (50%) HP:0001376
6 joint hypermobility typical (50%) HP:0001382
7 respiratory insufficiency typical (50%) HP:0002093
8 scoliosis typical (50%) HP:0002650
9 autosomal dominant inheritance HP:0000006
10 autosomal recessive inheritance HP:0000007
11 motor delay HP:0001270
12 neonatal hypotonia HP:0001319
13 flexion contracture HP:0001371
14 congenital hip dislocation HP:0001374
15 pes planus HP:0001763
16 fever HP:0001945
17 malignant hyperthermia HP:0002047
18 kyphoscoliosis HP:0002751
19 amyotrophy HP:0003202
20 generalized muscle weakness HP:0003324
21 infantile onset HP:0003593
22 slow progression HP:0003677
23 nonprogressive disorder HP:0003680
24 nemaline bodies HP:0003798
25 type 1 muscle fiber predominance HP:0003803
26 phenotypic variability HP:0003812

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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Genetic tests related to Central Core Myopathy:

id Genetic test Affiliating Genes
1 Central Core Disease20 22 RYR1

Anatomical Context for Central Core Myopathy

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MalaCards organs/tissues related to Central Core Myopathy:

32
Skeletal muscle, Heart, Testes, Lung

Animal Models for Central Core Myopathy or affiliated genes

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MGI Mouse Phenotypes related to Central Core Myopathy:

36
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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UniProtKB/Swiss-Prot genetic disease variations for Central Core Myopathy:

64 (show all 53)
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
53RYR1p.Gly4897AlaVAR_071754

Clinvar genetic disease variations for Central Core Myopathy:

6 (show all 93)
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 variantPathogenicrs118192161GRCh37Chr 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 variantPathogenicrs118192175GRCh37Chr 19, 38985204: 38985204
5RYR1NM_000540.2(RYR1): c.6488G> A (p.Arg2163His)single nucleotide variantPathogenicrs118192163GRCh37Chr 19, 38985205: 38985205
6RYR1NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr)single nucleotide variantPathogenicrs118192170GRCh37Chr 19, 39075629: 39075629
7RYR1NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys)single nucleotide variantPathogenicrs118192167GRCh37Chr 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.14545G> A (p.Val4849Ile)single nucleotide variantPathogenicrs118192168GRCh37Chr 19, 39071043: 39071043
11RYR1NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del)deletionPathogenicrs118192169GRCh37Chr 19, 39071085: 39071105
12RYR1NM_000540.2(RYR1): c.14647-1449A> Gsingle nucleotide variantPathogenicrs193922886GRCh37Chr 19, 39074134: 39074134
13RYR1NM_000540.2(RYR1): c.325C> T (p.Arg109Trp)single nucleotide variantPathogenicrs118192173GRCh37Chr 19, 38934252: 38934252
14RYR1NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys)single nucleotide variantPathogenicrs118192174GRCh37Chr 19, 38990601: 38990601
15RYR1NM_000540.2(RYR1): c.14365-2A> Tsingle nucleotide variantPathogenicrs193922870GRCh37Chr 19, 39070620: 39070620
16RYR1NM_000540.2(RYR1): c.10343C> T (p.Ser3448Phe)single nucleotide variantPathogenicrs193922836GRCh37Chr 19, 39013751: 39013751
17RYR1NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala)single nucleotide variantPathogenicrs118192166GRCh37Chr 19, 39062821: 39062821
18RYR1NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser)single nucleotide variantPathogenicrs118192162GRCh37Chr 19, 38945999: 38945999
19RYR1NM_000540.2(RYR1): c.1739_1742dupATCA (p.His581Glnfs)duplicationPathogenicrs193922771GRCh37Chr 19, 38946339: 38946342
20RYR1NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr)indelPathogenicrs118192171GRCh37Chr 19, 39075697: 39075698
21RYR1NM_000540.2(RYR1): c.10348-6C> Gsingle nucleotide variantPathogenicrs193922837GRCh37Chr 19, 39013851: 39013851
22RYR1NM_000540.2(RYR1): c.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022
23RYR1NM_000540.2(RYR1): c.5726_5727delAG (p.Glu1909Glyfs)deletionPathogenicrs387906681GRCh37Chr 19, 38979995: 38979996
24RYR1NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr)single nucleotide variantPathogenicrs148772854GRCh37Chr 19, 39034444: 39034444
25RYR1NM_000540.2(RYR1): c.1205T> C (p.Met402Thr)single nucleotide variantPathogenicrs118192117GRCh37Chr 19, 38942486: 38942486
26RYR1NM_000540.2(RYR1): c.14524G> A (p.Val4842Met)single nucleotide variantPathogenicrs193922879GRCh37Chr 19, 39071022: 39071022
27RYR1NP_000531.2: p.4894Qundetermined variantPathogenic
28RYR1NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr)single nucleotide variantPathogenicrs118192120GRCh37Chr 19, 38973951: 38973951
29RYR1NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp)single nucleotide variantPathogenicrs118192129GRCh37Chr 19, 39055960: 39055960
30RYR1NM_000540.2(RYR1): c.14537C> T (p.Ala4846Val)single nucleotide variantPathogenicrs118192143GRCh37Chr 19, 39071035: 39071035
31RYR1NM_000540.2(RYR1): c.14717C> T (p.Ala4906Val)single nucleotide variantPathogenicrs118192153GRCh37Chr 19, 39075653: 39075653
32RYR1NM_000540.2(RYR1): c.14818G> A (p.Ala4940Thr)single nucleotide variantPathogenicrs118192158GRCh37Chr 19, 39076592: 39076592
33RYR1NM_000540.2(RYR1): c.178G> A (p.Asp60Asn)single nucleotide variantPathogenicrs118192160GRCh37Chr 19, 38933001: 38933001
34RYR1NM_000540.2(RYR1): c.7635G> C (p.Glu2545Asp)single nucleotide variantPathogenicrs193922820GRCh37Chr 19, 38993167: 38993167
35RYR1NM_000540.2(RYR1): c.13900G> A (p.Glu4634Lys)single nucleotide variantPathogenicrs118192133GRCh37Chr 19, 39062812: 39062812
36RYR1NM_000540.2(RYR1): c.1534G> A (p.Glu512Lys)single nucleotide variantPathogenicrs118192119GRCh37Chr 19, 38945968: 38945968
37RYR1NP_000531.2: p.F4808Pundetermined variantPathogenic
38RYR1NP_000531.2: p.F4860deldeletionPathogenic
39RYR1NP_000531.2: p.F4906deldeletionPathogenic
40RYR1NM_000540.2(RYR1): c.14762T> C (p.Phe4921Ser)single nucleotide variantPathogenicrs118192156GRCh37Chr 19, 39075698: 39075698
41RYR1NM_000540.2(RYR1): c.644G> A (p.Gly215Glu)single nucleotide variantPathogenicrs118192115GRCh37Chr 19, 38937124: 38937124
42RYR1NM_000540.2(RYR1): c.13913G> A (p.Gly4638Asp)single nucleotide variantPathogenicrs118192135GRCh37Chr 19, 39062825: 39062825
43RYR1NP_000531.2: p.G4638Nundetermined variantPathogenic
44RYR1NM_000540.2(RYR1): c.13912G> A (p.Gly4638Ser)single nucleotide variantPathogenicrs118192136GRCh37Chr 19, 39062824: 39062824
45RYR1NP_000531.2: p.G4890Rundetermined variantPathogenic
46RYR1NM_000540.2(RYR1): c.14671G> C (p.Gly4891Arg)single nucleotide variantPathogenicrs118192149GRCh37Chr 19, 39075607: 39075607
47RYR1NP_000531.2: p.G4893Rundetermined variantPathogenic
48RYR1NM_000540.2(RYR1): c.14690G> T (p.Gly4897Val)single nucleotide variantPathogenicrs118192148GRCh37Chr 19, 39075626: 39075626
49RYR1NM_000540.2(RYR1): c.14696G> A (p.Gly4899Glu)single nucleotide variantPathogenicrs118192183GRCh37Chr 19, 39075632: 39075632
50RYR1NP_000531.2: p.G4899Rundetermined variantPathogenic
51RYR1NM_000540.2(RYR1): c.13952A> C (p.His4651Pro)single nucleotide variantPathogenicrs118192139GRCh37Chr 19, 39062864: 39062864
52RYR1NM_000540.2(RYR1): c.14659C> T (p.His4887Tyr)single nucleotide variantPathogenicrs118192147GRCh37Chr 19, 39075595: 39075595
53RYR1NM_000540.2(RYR1): c.7358T> C (p.Ile2453Thr)single nucleotide variantPathogenicrs118192123GRCh37Chr 19, 38991280: 38991280
54RYR1NM_000540.2(RYR1): c.14814C> G (p.Ile4938Met)single nucleotide variantPathogenicrs118192159GRCh37Chr 19, 39076588: 39076588
55RYR1NM_000540.2(RYR1): c.10100A> G (p.Lys3367Arg)single nucleotide variantPathogenicrs118192126GRCh37Chr 19, 39009935: 39009935
56RYR1NM_000540.2(RYR1): c.14170A> C (p.Lys4724Gln)single nucleotide variantPathogenicrs118192141GRCh37Chr 19, 39066599: 39066599
57RYR1NM_000540.2(RYR1): c.10817T> C (p.Leu3606Pro)single nucleotide variantPathogenicrs118192127GRCh37Chr 19, 39018417: 39018417
58RYR1NM_000540.2(RYR1): c.13703T> C (p.Leu4568Pro)single nucleotide variantPathogenicrs118192131GRCh37Chr 19, 39061290: 39061290
59RYR1NP_000531.2: p.L4647del2deletionPathogenic
60RYR1NM_000540.2(RYR1): c.13949T> C (p.Leu4650Pro)single nucleotide variantPathogenicrs118192138GRCh37Chr 19, 39062861: 39062861
61RYR1NM_000540.2(RYR1): c.14378T> C (p.Leu4793Pro)single nucleotide variantPathogenicrs118192179GRCh37Chr 19, 39070635: 39070635
62RYR1NP_000531.2: p.L4796Cundetermined variantPathogenic
63RYR1NM_000540.2(RYR1): c.14440C> T (p.Leu4814Phe)single nucleotide variantPathogenicrs118192142GRCh37Chr 19, 39070697: 39070697
64RYR1NP_000531.2: p.M2434Kundetermined variantPathogenic
65RYR1NM_000540.2(RYR1): c.6847A> C (p.Asn2283His)single nucleotide variantPathogenicrs118192121GRCh37Chr 19, 38987550: 38987550
66RYR1NM_000540.2(RYR1): c.14572A> G (p.Asn4858Asp)single nucleotide variantPathogenicrs118192144GRCh37Chr 19, 39071070: 39071070
67RYR1NP_000531.2: p.N4939Qundetermined variantPathogenic
68RYR1NP_000531.2: p.Q160Gundetermined variantPathogenic
69RYR1NP_000531.2: p.Q474Hundetermined variantPathogenic
70RYR1NP_000531.2: p.Q512Kundetermined variantPathogenic
71RYR1NP_000531.2: p.R146Cundetermined variantPathogenic
72RYR1NP_000531.2: p.R2434Hundetermined variantPathogenic
73RYR1NM_000540.2(RYR1): c.7354C> T (p.Arg2452Trp)single nucleotide variantPathogenicrs118192124GRCh37Chr 19, 38991276: 38991276
74RYR1NM_000540.2(RYR1): c.7361G> A (p.Arg2454His)single nucleotide variantPathogenicrs118192122GRCh37Chr 19, 38991283: 38991283
75RYR1NM_000540.2(RYR1): c.7522C> T (p.Arg2508Cys)single nucleotide variantPathogenicrs118192178GRCh37Chr 19, 38991538: 38991538
76RYR1NM_000540.2(RYR1): c.8816G> A (p.Arg2939Lys)single nucleotide variantPathogenicrs118192125GRCh37Chr 19, 38997592: 38997592
77RYR1NM_000540.2(RYR1): c.13673G> A (p.Arg4558Gln)single nucleotide variantPathogenicrs118192130GRCh37Chr 19, 39061260: 39061260
78RYR1NM_000540.2(RYR1): c.14473C> T (p.Arg4825Cys)single nucleotide variantPathogenicrs118192180GRCh37Chr 19, 39070730: 39070730
79RYR1NM_000540.2(RYR1): c.14581C> T (p.Arg4861Cys)single nucleotide variantPathogenicrs118192181GRCh37Chr 19, 39071079: 39071079
80RYR1NM_000540.2(RYR1): c.14678G> C (p.Arg4893Pro)single nucleotide variantPathogenicrs118192151GRCh37Chr 19, 39075614: 39075614
81RYR1NM_000540.2(RYR1): c.14678G> A (p.Arg4893Gln)single nucleotide variantPathogenicrs118192151GRCh37Chr 19, 39075614: 39075614
82RYR1NM_000540.2(RYR1): c.14677C> T (p.Arg4893Trp)single nucleotide variantPathogenicrs118192150GRCh37Chr 19, 39075613: 39075613
83RYR1NM_000540.2(RYR1): c.14740A> G (p.Arg4914Gly)single nucleotide variantPathogenicrs118192184GRCh37Chr 19, 39075676: 39075676
84RYR1NM_000540.2(RYR1): c.14741G> C (p.Arg4914Thr)single nucleotide variantPathogenicrs118192154GRCh37Chr 19, 39075677: 39075677
85RYR1NM_000540.2(RYR1): c.1280C> T (p.Ser427Leu)single nucleotide variantPathogenicrs118192118GRCh37Chr 19, 38943494: 38943494
86RYR1NM_000540.2(RYR1): c.212C> A (p.Ser71Tyr)single nucleotide variantPathogenicrs118192113GRCh37Chr 19, 38933035: 38933035
87RYR1NM_000540.2(RYR1): c.13910C> T (p.Thr4637Ile)single nucleotide variantPathogenicrs118192134GRCh37Chr 19, 39062822: 39062822
88RYR1NM_000540.2(RYR1): c.14126C> T (p.Thr4709Met)single nucleotide variantPathogenicrs118192140GRCh37Chr 19, 39063944: 39063944
89RYR1NM_000540.2(RYR1): c.14759C> A (p.Thr4920Asn)single nucleotide variantPathogenicrs118192155GRCh37Chr 19, 39075695: 39075695
90RYR1NP_000531.2: p.V4849Rundetermined variantPathogenic
91RYR1NM_000540.2(RYR1): c.14779_14784delGTCATC (p.Val4927_Ile4928del)deletionPathogenicrs193922893GRCh37Chr 19, 39075715: 39075720
92RYR1NM_000540.2(RYR1): c.13891T> A (p.Tyr4631Asn)single nucleotide variantPathogenicrs118192132GRCh37Chr 19, 39062803: 39062803
93RYR1NM_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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Expression patterns in normal tissues for genes affiliated with Central Core Myopathy

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Pathways for genes affiliated with Central Core Myopathy

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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
38.5RYR2, RYR1, RYR3
4
Show member pathways
Calcium Regulation in the Cardiac Cell37
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/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1procaine44 28 1111.6RYR1, RYR2
2ruthenium449.6RYR1, RYR2
3carvedilol44 50 28 1112.6RYR1, RYR2
4suramin44 28 1111.5RYR1, RYR2
5isoproterenol44 1110.4RYR1, RYR2
6thapsigargin44 6110.4RYR1, RYR2
7chloride449.3RYR1, RYR2
8potassium44 24 1111.3RYR1, RYR2
9phospholipid449.2RYR2, RYR1
104-chloro-m-cresol448.9RYR3, RYR1, RYR2
11cyclic adp-ribose448.9RYR3, RYR1, RYR2
12dantrolene28 44 1110.9RYR2, RYR1, RYR3
13ruthenium red288.9RYR2, RYR1, RYR3
14mg2+288.8RYR3, RYR1, RYR2
15ca2+288.8RYR2, RYR1, RYR3
16ryanodine44 28 6110.8RYR3, RYR1, RYR2
17neomycin448.8RYR3, RYR1, RYR2
18caffeine44 28 2 50 24 1113.8RYR2, RYR1, RYR3
19inositol 1,4,5 trisphosphate448.8RYR3, RYR1, RYR2
20tacrolimus44 50 1110.8RYR2, RYR1, RYR3
21magnesium44 24 1110.7RYR2, RYR1, RYR3
22atp44 289.7RYR3, RYR1, RYR2
23lipid448.7RYR2, RYR1, RYR3
24calcium44 50 24 1111.2RYR3, 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/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:0052629.3RYR1, RYR2
2calcium-induced calcium release activityGO:0487639.1RYR3, RYR2
3ryanodine-sensitive calcium-release channel activityGO:0052198.6RYR3, RYR1, RYR2
4calcium-release channel activityGO:0152788.6RYR3, RYR1, RYR2
5calmodulin bindingGO:0055168.4RYR2, RYR1, RYR3
6calcium ion bindingGO:0055098.2RYR3, RYR1, RYR2

Products for genes affiliated with Central Core Myopathy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Central Core Myopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet