CCD
MCID: CNT009
MIFTS: 70

Central Core Myopathy (CCD) malady

Neuronal diseases, Muscle diseases categories

Summaries for Central Core Myopathy

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Central Core Myopathy, also known as central core disease, is related to myopathy and malignant hyperthermia susceptibility, 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 Hypertrophic cardiomyopathy (HCM) and Insulin secretion. The drug medium chain triglycerides and 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:63 Central core disease (CCD), also known as central core myopathy, is an autosomal dominantcongenital... more...

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

GeneReviews summary for cco

Aliases & Classifications for Central Core Myopathy

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 60UMLS, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 39NCIt, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
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


Aliases & Descriptions:

central core myopathy 8 21 10 60
central core disease 8 9 19 42 20 22 21 46 44 48
cco 42 21
ccd 42 21
moderate multiminicore disease with hand involvement 48
central core disease of muscle 42
muscular central core disease 42
myopathy, central core 21
multiminicore myopathy 48
multiminicore disease 48
muscle core disease 42
shy-magee syndrome 21
celiac disease 60
mmd 48


External Ids:

Disease Ontology8 DOID:3529
NCIt39 C83010
MeSH34 D020512
SNOMED-CT56 43152001
ICD10 via Orphanet26 G71.2

Related Diseases for Central Core Myopathy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Central Core Myopathy:



Diseases related to central core myopathy

Clinical Features for Central Core Myopathy

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

117000,255320,607552,602771

Clinical synopsis from OMIM:

117000

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Central Core Myopathy

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Sources:
20GeneTests, 22GTR
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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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32MalaCards
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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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Sources:
36MGI
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MGI Mouse Phenotypes related to Central Core Myopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0RYR3, RYR1, RYR2, CACNA1S
2MP:00053697.7RYR3, RYR1, RYR2, CACNA1S

Publications for Central Core Myopathy

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Sources:
50PubMed
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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
5
Myotubular/centronuclear myopathy and central core disease. (18974559)
2008
6
Undetected central core disease myopathy in an infant presenting for clubfoot surgery. (17359409)
2007
7
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? (14732615)
2004
8
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. (12565913)
2003
9
Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility. (11525882)
2001
10
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. (14280602)
1965

Genetic Variations for Central Core Myopathy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Central Core Myopathy:

62 (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

Expression for genes affiliated with Central Core Myopathy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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:
29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Pathways related to Central Core Myopathy according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3RYR2, CACNA1S
29.3RYR2, CACNA1S
39.3CACNA1S, RYR2
4
Hide members
8.6RYR3, RYR1, RYR2
5
Hide members
8.6RYR3, RYR1, RYR2
6
Hide members
8.6RYR2, RYR1, RYR3
7
Hide members
8.0RYR3, RYR1, RYR2, CACNA1S
88.0RYR3, RYR1, RYR2, CACNA1S
98.0RYR3, RYR1, RYR2, CACNA1S
10
Hide members
8.0CACNA1S, RYR2, RYR1, RYR3
118.0CACNA1S, RYR2, RYR1, RYR3
12
Hide members
8.0CACNA1S, RYR2, RYR1, RYR3
13
Hide members
8.0CACNA1S, RYR2, RYR1, RYR3
14
Hide members
8.0CACNA1S, RYR2, RYR1, RYR3

Compounds for genes affiliated with Central Core Myopathy

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Central Core Myopathy according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1procaine44 28 1111.7RYR1, RYR2
2ruthenium449.7RYR1, RYR2
3carvedilol44 49 28 1112.7RYR2, RYR1
4suramin44 28 1111.6RYR2, RYR1
5dihydropyridine449.6RYR1, CACNA1S
6verapamil44 49 28 11 2413.5RYR2, CACNA1S
7nifedipine44 49 28 1112.4RYR1, CACNA1S
8isoproterenol44 1110.4RYR2, RYR1
9thapsigargin44 5910.3RYR1, RYR2
10chloride449.1RYR1, RYR2
114-chloro-m-cresol449.0RYR3, RYR1, RYR2
12cyclic adp-ribose449.0RYR2, RYR1, RYR3
13dantrolene44 28 1111.0RYR3, RYR1, RYR2
14ruthenium red289.0RYR3, RYR1, RYR2
15mg2+288.9RYR2, RYR1, RYR3
16ca2+288.9RYR3, RYR1, RYR2
17neomycin448.9RYR3, RYR1, RYR2
18caffeine44 49 28 2 11 2413.9RYR2, RYR1, RYR3
19inositol 1,4,5 trisphosphate448.9RYR3, RYR1, RYR2
20tacrolimus44 49 1110.9RYR2, RYR1, RYR3
21magnesium44 11 2410.8RYR3, RYR1, RYR2
22atp44 289.7RYR3, RYR1, RYR2
23lipid448.6RYR3, RYR1, RYR2
24ryanodine44 28 5910.3RYR3, RYR1, RYR2, CACNA1S
25calcium44 49 11 2411.2RYR3, RYR1, RYR2, CACNA1S

GO Terms for genes affiliated with Central Core Myopathy

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16Gene Ontology
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Cellular components related to Central Core Myopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.3RYR1, CACNA1S
2junctional sarcoplasmic reticulum membraneGO:0147019.3RYR1, RYR2
3junctional membrane complexGO:0303149.1RYR1, RYR3
4I bandGO:0316749.0RYR1, CACNA1S
5sarcoplasmic reticulumGO:0165298.9RYR1, RYR2, CACNA1S
6sarcoplasmic reticulum membraneGO:0330178.7RYR3, RYR1, RYR2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:0148089.6RYR1, RYR2
2response to caffeineGO:0310009.6RYR1, RYR2
3cytosolic calcium ion homeostasisGO:0514809.5RYR1, RYR2
4release of sequestered calcium ion into cytosolGO:0512099.5RYR1, RYR2
5response to hypoxiaGO:0016669.4RYR1, RYR2
6striated muscle contractionGO:0069419.2CACNA1S, RYR3
7muscle contractionGO:0069369.0RYR1, CACNA1S
8cellular calcium ion homeostasisGO:0068749.0RYR3, RYR2
9cellular response to caffeineGO:0713138.8RYR3, RYR1, RYR2
10ion transmembrane transportGO:0342208.8RYR2, RYR1, RYR3
11transmembrane transportGO:0550858.6RYR2, RYR1, RYR3
12calcium ion transportGO:0068168.2RYR3, RYR1, RYR2, CACNA1S

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel activityGO:0052459.2RYR1, CACNA1S
2calcium channel activityGO:0052629.1RYR1, RYR2
3ryanodine-sensitive calcium-release channel activityGO:0052198.7RYR3, RYR1, RYR2
4calcium-release channel activityGO:0152788.7RYR3, RYR1, RYR2
5calmodulin bindingGO:0055168.6RYR2, RYR1, RYR3
6calcium ion bindingGO:0055098.6RYR3, RYR1, RYR2

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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet