CCD
MCID: CNT009
MIFTS: 58

Central Core Myopathy (CCD) malady

Neuronal, Gastrointestinal, Muscle categories

Summaries for Central Core Myopathy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 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 susceptibility and malignant hyperthermia, and has symptoms including autosomal recessive inheritance, scoliosis and autosomal dominant inheritance. 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 heart and skeletal muscle, 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:64 Central core disease (CCD), also known as central core myopathy, is an autosomal dominantcongenital... more...

Description from OMIM:47 117000,255320,607552,602771

GeneReviews summary for cco

Aliases & Classifications for Central Core Myopathy

Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 61UMLS, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 40NCIt, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Gastrointestinal, Muscle


Characteristics (Orphanet epidemiological data):

49
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 61
central core disease 8 9 19 43 20 22 21 47 45 49
cco 43 21
ccd 43 21
moderate multiminicore disease with hand involvement 49
central core disease of muscle 43
muscular central core disease 43
gluten-sensitive enteropathy 19
multiminicore myopathy 49
myopathy, central core 21
multiminicore disease 49
muscle core disease 43
shy-magee syndrome 21
nontropical sprue 19
coeliac disease 19
celiac disease 61
celiac sprue 19
mmd 49


External Ids:

Disease Ontology8 DOID:3529
NCIt40 C83010
MeSH35 D020512
SNOMED-CT57 43152001
ICD10 via Orphanet26 G71.2

Related Diseases for Central Core Myopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 373)
idRelated DiseaseScoreTop Affiliating Genes
1malignant hyperthermia susceptibility30.2CACNA1S, RYR1
2malignant hyperthermia30.2CACNA1S, RYR2, RYR1, RYR3
3celiac disease11.5
4hepatitis c10.5
5hepatitis d10.5
6thyroiditis10.5
7autoimmune thyroiditis10.5
8cleidocranial dysplasia10.5
9deficiency anemia10.4
10hemosiderosis10.4
11antenatal multiminicore disease with arthrogryposis multiplex congenita10.4
12eosinophilic esophagitis10.4
13autoimmune hepatitis10.4
14hepatitis a10.4
15iron deficiency anemia10.4
16short stature10.4
17arthritis10.4
18celiac disease 210.4
19hypoparathyroidism10.3
20lymphocytic gastritis10.3
21steatorrhea10.3
22n syndrome10.3
23hemochromatosis10.3
24irritable bowel syndrome10.3
25collagenous colitis10.3
26lymphocytic colitis10.3
27nutrition disease10.3
28tropical sprue10.3
29aphthous stomatitis10.3
30osteoporosis10.3
31stomatitis10.3
32turner syndrome10.3
33celiac disease 310.3
34restless legs syndrome10.3
35small intestine lymphoma10.3
36eosinophilic enteropathy10.3
37myokymia10.3
38myxedema10.2
39intrinsic factor deficiency10.2
40histiocytic sarcoma10.2
41minicore myopathy with external ophthalmoplegia10.2
42ryr1-related multiminicore disease10.2
43sepn1-related multiminicore disease10.2
44crohn's disease10.2
45familial mediterranean fever10.2
46plummer's disease10.2
47primary biliary cirrhosis10.2
48systemic lupus erythematosus10.2
49osteomalacia10.2
50intussusception10.2

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



Diseases related to central core myopathy

Clinical Features for Central Core Myopathy

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

117000,255320,607552,602771

Clinical synopsis from OMIM:

117000

Symptoms:

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

Drugs & Therapeutics for Central Core Myopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Central Core Myopathy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Central Core Myopathy:

id Genetic test Affiliating Genes
1 Central Core Disease20 22 RYR1

Anatomical Context for Central Core Myopathy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Central Core Myopathy:

33
Heart, Skeletal muscle

Animal Models for Central Core Myopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Central Core Myopathy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.0RYR3, RYR1, RYR2, CACNA1S
2MP:00053697.7RYR3, RYR1, RYR2, CACNA1S

Publications for Central Core Myopathy

Sources:
51PubMed
See all sources

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
Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility. (11525882)
2001
9
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. (14280602)
1965

Genetic Variations for Central Core Myopathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Central Core Myopathy:

63 (show all 52)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN
See all sources

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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 50PharmGKB, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

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

(show all 25)
idCompoundScoreTop Affiliating Genes
1procaine45 29 1111.7RYR1, RYR2
2ruthenium459.7RYR1, RYR2
3carvedilol45 50 29 1112.7RYR2, RYR1
4suramin45 29 1111.6RYR2, RYR1
5dihydropyridine459.6RYR1, CACNA1S
6verapamil45 50 29 11 2413.5RYR2, CACNA1S
7nifedipine45 50 29 1112.4RYR1, CACNA1S
8isoproterenol45 1110.4RYR2, RYR1
9thapsigargin45 6010.3RYR1, RYR2
10chloride459.1RYR1, RYR2
114-chloro-m-cresol459.0RYR3, RYR1, RYR2
12cyclic adp-ribose459.0RYR2, RYR1, RYR3
13dantrolene45 29 1111.0RYR3, RYR1, RYR2
14ruthenium red299.0RYR3, RYR1, RYR2
15mg2+298.9RYR2, RYR1, RYR3
16ca2+298.9RYR3, RYR1, RYR2
17neomycin458.9RYR3, RYR1, RYR2
18caffeine45 50 29 2 11 2413.9RYR2, RYR1, RYR3
19inositol 1,4,5 trisphosphate458.9RYR3, RYR1, RYR2
20tacrolimus45 50 1110.9RYR2, RYR1, RYR3
21magnesium45 11 2410.8RYR3, RYR1, RYR2
22atp45 299.7RYR3, RYR1, RYR2
23lipid458.6RYR3, RYR1, RYR2
24ryanodine45 29 6010.3RYR3, RYR1, RYR2, CACNA1S
25calcium45 50 11 2411.2RYR3, RYR1, RYR2, CACNA1S

GO Terms for genes affiliated with Central Core Myopathy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Central Core Myopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet