CCD
MCID: CNT098
MIFTS: 65

Central Core Disease (CCD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Central Core Disease

Aliases & Descriptions for Central Core Disease:

Name: Central Core Disease 54 12 23 50 24 25 56 29 13 52
Central Core Myopathy 12 25 14 69
Central Core Disease of Muscle 54 50 66
Myopathy, Central Core 50 25 42
Ccd 50 25 66
Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 54 69
Congenital Neuromuscular Disease with Uniform Type 1 Fiber 24 29
Shy-Magee Syndrome 50 25
Cco 50 25
Moderate Multiminicore Disease with Hand Involvement 56
Muscular Central Core Disease 50
Myopathy, Central Fibrillar 50
Muscle Core Disease 50
Cnmdu1 24

Characteristics:

Orphanet epidemiological data:

56
central core disease
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;


GeneReviews:

23
Penetrance In general, the penetrance of ccd-associated ryr1 pathogenic variants is almost 100%. clinical variability exists to some extent among affected members of the family...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 117000
Disease Ontology 12 DOID:3529
ICD10 33 G71.2
MeSH 42 D020512
NCIt 47 C83010
SNOMED-CT 64 43152001
ICD10 via Orphanet 34 G71.2
UMLS 69 C0751951

Summaries for Central Core Disease

NIH Rare Diseases : 50 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. 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 Disease, also known as central core myopathy, is related to myopathy and cleidocranial dysplasia, and has symptoms including muscular hypotonia, myopathy and nemaline bodies. An important gene associated with Central Core Disease is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are CREB Pathway and Vascular smooth muscle contraction. The drugs Leflunomide and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are Increased shRNA abundance and muscle

UniProtKB/Swiss-Prot : 66 Central core disease of muscle: Autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques.

Genetics Home Reference : 25 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.

OMIM : 54 Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental... (117000) more...

Wikipedia : 71 Central core disease (CCD), also known as central core myopathy, is an autosomal dominantcongenital... more...

GeneReviews: NBK1391

Related Diseases for Central Core Disease

Diseases related to Central Core Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
id Related Disease Score Top Affiliating Genes
1 myopathy 29.7 NEB RYR1 RYR2
2 cleidocranial dysplasia 11.8
3 malignant hyperthermia 11.2
4 congenital chloride diarrhea 10.9
5 malignant hyperthermia susceptibility 1 10.8
6 cerebral creatine deficiency syndrome 2 10.8
7 primary pulmonary lymphoma 10.2 CACNA1S RYR1
8 multiminicore disease 10.1 CACNA1S RYR1
9 myopathy, congenital, with fiber-type disproportion 10.1 MYH7 RYR1
10 glaucoma 1, open angle, p 10.1 CACNA1S QDPR RYR1
11 raynaud disease 10.1 CACNA1S QDPR RYR1
12 malignant hyperthermia susceptibility 5 10.1 CACNA1S QDPR RYR1
13 ostertagiasis 10.0 DES MYH7
14 cardiomyopathy, dilated, 1i 10.0 DES MYOT
15 short-rib thoracic dysplasia 8 with or without polydactyly 10.0 DES MYOT
16 segawa syndrome, recessive 10.0 QDPR RYR1
17 myelofibrosis 10.0 RYR1 RYR2
18 leukodystrophy, hypomyelinating, 2 9.9 RYR1 RYR2 RYR3
19 nonsyndromic hearing loss and deafness, mitochondrial 9.9 DES MYOT
20 familial partial lipodystrophy 9.9 DES RYR1 RYR2
21 microcephaly and chorioretinopathy 1 9.9 MYH7 NEB RYR1
22 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 9.9 MYH7 MYOT
23 fibrosarcoma 9.9
24 soft palate cancer 9.8 CACNA1S QDPR RYR1 RYR2
25 celiac disease 2 9.8 DES MYH7 MYOT
26 lyme disease 9.8 DES MYH7 MYOT
27 cerebral angioma 9.8 MYOT NEB RYR1
28 malignant hyperthermia susceptibility 9.8
29 scoliosis 9.7
30 hemophagocytic lymphohistiocytosis 9.6
31 clubfoot 9.6
32 nemaline myopathy 9.6
33 neuromuscular disease 9.6
34 neuronitis 9.6
35 diploid-triploid mosaicism 9.6
36 cardiomyopathy 9.6
37 spindle cell sarcoma 9.5 DES MYH7 MYOT NEB RYR1
38 epilepsy, generalized, with febrile seizures plus, type 1 8.8 CACNA1S DES MYH7 MYOT NEB QDPR

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



Diseases related to Central Core Disease

Symptoms & Phenotypes for Central Core Disease

Symptoms by clinical synopsis from OMIM:

117000

Clinical features from OMIM:

117000

Human phenotypes related to Central Core Disease:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
2 myopathy 56 32 Very frequent (99-80%) HP:0003198
3 nemaline bodies 56 32 Very frequent (99-80%) HP:0003798
4 type 1 muscle fiber predominance 56 32 Very frequent (99-80%) HP:0003803
5 fever 32 HP:0001945
6 generalized muscle weakness 32 HP:0003324
7 pes planus 32 HP:0001763
8 neonatal hypotonia 32 HP:0001319
9 flexion contracture 32 HP:0001371
10 skeletal muscle atrophy 32 HP:0003202
11 malignant hyperthermia 32 HP:0002047
12 motor delay 32 HP:0001270
13 kyphoscoliosis 32 HP:0002751
14 congenital hip dislocation 32 HP:0001374

UMLS symptoms related to Central Core Disease:


generalized muscle weakness

GenomeRNAi Phenotypes related to Central Core Disease according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 CACNA1S MYOT NEB

MGI Mouse Phenotypes related to Central Core Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.17 RYR2 RYR3 CACNA1S DES MYH7 NEB

Drugs & Therapeutics for Central Core Disease

Drugs for Central Core Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 812)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Leflunomide Approved, Investigational Phase 4 75706-12-6 3899
2
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
3
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
4
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
5
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
6
Diazepam Approved, Illicit, Vet_approved Phase 4 439-14-5 3016
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 50-02-2 5743
8
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
9
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
10
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
11
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
12
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
13
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2 106266-06-2 5073
14
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 113-45-1 4158
15
Paclitaxel Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 33069-62-4 36314
16
Rivastigmine Approved, Investigational Phase 4,Phase 3 123441-03-2 77991
17
Milnacipran Approved Phase 4 92623-85-3 65833
18
Ranibizumab Approved Phase 4,Phase 3 347396-82-1 459903
19
Glatiramer Acetate Approved, Investigational Phase 4,Phase 3 147245-92-9 3081884
20
Interferon beta-1a Approved, Investigational Phase 4,Phase 3 145258-61-3 6438354
21
Interferon beta-1b Approved Phase 4 145155-23-3
22
Azithromycin Approved Phase 4,Phase 3 83905-01-5 55185 53477736 447043
23
Ciprofloxacin Approved, Investigational Phase 4,Phase 2 85721-33-1 2764
24
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
25
Acetylcholine Approved Phase 4,Phase 3 51-84-3 187
26
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Early Phase 1 103-90-2 1983
27
Celecoxib Approved, Investigational Phase 4,Phase 3,Phase 2 169590-42-5 2662
28
Ibuprofen Approved Phase 4 15687-27-1 3672
29
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2 22204-53-1 1302 156391
30
Exenatide Approved, Investigational Phase 4,Phase 3,Early Phase 1 141758-74-9 15991534
31
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
32
Adalimumab Approved Phase 4 331731-18-1 16219006
33
Bevacizumab Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 216974-75-3
34
Temazepam Approved Phase 4 846-50-4 5391
35
Deferasirox Approved, Investigational Phase 4,Phase 3,Phase 2 201530-41-8 5493381
36
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
37
Famotidine Approved Phase 4 76824-35-6 3325
38
Histamine Approved, Investigational Phase 4,Phase 3 75614-87-8, 51-45-6 774
39
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
40
Cyclosporine Approved, Investigational, Vet_approved Phase 4 79217-60-0, 59865-13-3 5284373 6435893
41
Etanercept Approved, Investigational Phase 4 185243-69-0
42
Hydroxychloroquine Approved Phase 4 118-42-3 3652
43
Infliximab Approved Phase 4,Phase 3,Phase 1 170277-31-3
44
Sulfasalazine Approved Phase 4 599-79-1 5353980 5359476
45
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727
46
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
47
Didanosine Approved Phase 4,Phase 3,Phase 2 69655-05-6 50599
48
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2 154598-52-4 64139
49
Zidovudine Approved Phase 4,Phase 3,Phase 2 30516-87-1 35370
50
Citalopram Approved Phase 4 59729-33-8 2771

Interventional clinical trials:

(show top 50) (show all 1327)
id Name Status NCT ID Phase
1 Efficacy Study of Leflunomide to Treat Juvenile Idiopathic Arthritis Unknown status NCT02024334 Phase 4
2 Varenicline Adjunctive Treatment in Schizophrenia Unknown status NCT00492349 Phase 4
3 Buprenorphine and Integrated HIV Care Evaluation Unknown status NCT00124358 Phase 4
4 A Comparison of Virco®TYPE HIV-1 Testing Versus Expert Interpretation of Genotypic Results for Control of HIV-1 Replication Unknown status NCT00840762 Phase 4
5 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
6 The MONET - Study: MR Mammography of Nonpalpable Breast Tumors Unknown status NCT00302120 Phase 4
7 A Trial To Study The Effect Of Lamivudine In Adult Patients Who Suffer From Chronic Hepatitis B Alone Unknown status NCT00354653 Phase 4
8 Study the Role of Positron Emission Mammography in Pre-surgical Planning for Breast Cancer Unknown status NCT00484614 Phase 4
9 Effects of Rivastigmine Patch on Activities of Daily Living and Cognition in Patients With Severe Dementia of the Alzheimer's Type (ACTION) (Study Protocol CENA713DUS44, NCT00948766) and a 24 Week Open-label Extension to Study CENA713DUS44 Completed NCT00948766 Phase 4
10 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4
11 Extension Study to Compare Long-term Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With RVO Completed NCT01580020 Phase 4
12 Determining Predictors of Safe Discontinuation of Anti-TNF Treatment in JIA Completed NCT00792233 Phase 4
13 A 6-month, Randomized, Open-label, Patient OutComes, Safety and Tolerability Study of Fingolimod (FTY720) 0.5 mg/Day vs. Comparator in Patients With Relapsing Forms of Multiple Sclerosis Completed NCT01216072 Phase 4
14 Safety and Efficacy of Measles, Mumps, Rubella Vaccination in Juvenile Idiopathic Arthritis Completed NCT00731965 Phase 4
15 Patients With Relapse Remitting Multiple Sclerosis (RRMS): Candidates for MS Therapy Change Completed NCT01317004 Phase 4
16 Immunogenicity of 3+1 Versus 2+1 Schedule for PCV7 Completed NCT02040402 Phase 4
17 Intravascular Near Infrared Spectroscopy (NIRS) Bifurcation - Lipid Core Plaque Shift Study Completed NCT00905671 Phase 4
18 Periodical Presumptive Treatment for the Control of Gonococcal Infections Among Sex Workers Completed NCT01329588 Phase 4
19 Body Temperature in Persons With Tetraplegia When Exposed to Cold Completed NCT01822535 Phase 4
20 Lisdexamfetamine Dimesylate 2-year Safety Study in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT01328756 Phase 4
21 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
22 Dose-Optimization Study Evaluating the Efficacy, Safety and Tolerability of Vyvanse (Lisdexamfetamine Dimesylate) in Children Aged 6-12 Diagnosed With ADHD Completed NCT00500071 Phase 4
23 Temperature Control in Central Fever in the Neuro-ICU Completed NCT00751634 Phase 4
24 Effects of Intravenous Acetaminophen on Body Temperature and Hemodynamic Responses in Febrile Critically Ill Adults Completed NCT01869699 Phase 4
25 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
26 Comparing Therapeutic Hypothermia Using External and Internal Cooling for Post-Cardiac Arrest Patients Completed NCT00827957 Phase 4
27 Changes in Bone Turnover With Exposure to a GLP-1 Receptor Agonist Completed NCT01381926 Phase 4
28 Prefabricated Endodontic Posts: Glass Fiber Versus Titanium - A Randomized Controlled Pilot- Trial Completed NCT01520766 Phase 4
29 Intestinal Inflammation in Ankylosing Spondylitis and the Effects of Adalimumab on Mucosal Healing Completed NCT01174186 Phase 4
30 Combined Therapy in Age-Related Macular Degeneration (ARMD) Completed NCT00805649 Phase 4
31 Extension Study of the Efficacy and Safety of Deferasirox Treatment in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2-year Duration) Completed NCT00171301 Phase 4
32 Open-label Safety and Pharmacokinetic Study of DUEXIS® (Ibuprofen and Famotidine) Tablets in Juvenile Idiopathic Arthritis Completed NCT01563185 Phase 4
33 Combination Therapy in Pulmonary Arterial Hypertension Completed NCT00433329 Phase 4
34 Clinical Examination of Metal Free Interdental Brushes Completed NCT01593540 Phase 4
35 Comparison of MTX+Anti-TNF to MTX+Conventional DMARDs in Patients With Early Rheumatoid Arthritis (RA) Who Failed MTX Alone (SWEFOT) Completed NCT00764725 Phase 4
36 Improving the Management of Acute Coronary Syndromes in the Emergency Department Completed NCT01563250 Phase 4
37 Clinical Evaluation on Advanced Resynchronization Completed NCT00658203 Phase 4
38 When to Start Anti-HIV Drugs in Patients With Opportunistic Infections Completed NCT00055120 Phase 4
39 Efficacy and Safety of Ranibizumab 0.5 mg Administered as Two Alternative Dosing Regimens in Chinese Patients With nAMD (Age Related Macular Degeneration) Completed NCT01775124 Phase 4
40 Mesalazine for the Treatment of Diarrhoea-predominant Irritable Bowel Syndrome (IBS-D) Completed NCT01316718 Phase 4
41 Prospective Evaluation of Anti-retroviral Combinations for Treatment Naive, HIV Infected Persons in Resource-limited Settings Completed NCT00084136 Phase 4
42 Satisfaction, Confidence and Naturalness in Men With Psychogenic Erectile Dysfunction (ED) Completed NCT01153204 Phase 4
43 CAFE Study - Cancer Patient Fracture Evaluation Completed NCT00211237 Phase 4
44 Effect of Add-on Citalopram to Risperidone on Negative Symptoms in Schizophrenia Completed NCT00893256 Phase 4
45 Imaging Guided Patient Selection for Interventional Revascularization Therapy Completed NCT00963989 Phase 4
46 Gradual Initiation of Sulfamethoxazole/Trimethoprim as Primary Pneumocystis Carinii Pneumonia Prophylaxis Completed NCT00000816 Phase 4
47 A Comparison of Postoperative Tramadol Versus Acetaminophen With Codeine in Children Undergoing Tonsillectomy Completed NCT01267136 Phase 4
48 Attention-deficit/Hyperactivity Disorder Translational Center for Identifying Biomarkers Recruiting NCT02623114 Phase 4
49 The Relationship Among Changes in Brain Network Activation in Adult Outpatients With Major Depressive Disorder Recruiting NCT02749721 Phase 4
50 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders Recruiting NCT01098383 Phase 4

Search NIH Clinical Center for Central Core Disease

Cochrane evidence based reviews: myopathy, central core

Genetic Tests for Central Core Disease

Genetic tests related to Central Core Disease:

id Genetic test Affiliating Genes
1 Central Core Disease 29 24 RYR1
2 Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 29
3 Congenital Neuromuscular Disease with Uniform Type 1 Fiber 24 RYR1

Anatomical Context for Central Core Disease

MalaCards organs/tissues related to Central Core Disease:

39
Skeletal Muscle, Testes, Heart

Publications for Central Core Disease

Articles related to Central Core Disease:

(show top 50) (show all 75)
id Title Authors Year
1
Young onset Parkinsonism in a patient with familial central core disease. ( 28290406 )
2017
2
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. ( 28527222 )
2017
3
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. ( 27586648 )
2016
4
Bilateral congenital lumbar hernias in a patient with central core disease--A case report. ( 26684984 )
2016
5
Next generation sequencing reveals RYR1 mutations in a Chinese central core disease cohort. ( 26799446 )
2016
6
Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region. ( 25628744 )
2015
7
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. ( 26115329 )
2015
8
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. ( 27858745 )
2015
9
Novel RYR1 missense mutations in six Chinese patients with central core disease. ( 24561095 )
2014
10
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report. ( 25084811 )
2014
11
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. ( 25521991 )
2014
12
Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease. ( 22550088 )
2013
13
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. ( 23183335 )
2013
14
Clinical utility gene card for: Central core disease. ( 21989361 )
2012
15
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. ( 22203976 )
2012
16
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. ( 21088110 )
2011
17
Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1. ( 21825032 )
2011
18
Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. ( 20443062 )
2010
19
Familial RYR 1 mutation associated with mild and severe central core disease. ( 20724266 )
2010
20
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. ( 20142353 )
2010
21
Central core disease and susceptibility to malignant hyperthermia in a single family. ( 19252784 )
2009
22
Myotubular/centronuclear myopathy and central core disease. ( 18974559 )
2008
23
Emergency anaesthesia in central core disease. ( 18344580 )
2008
24
Caesarean section in a complicated case of central core disease. ( 18412656 )
2008
25
A patient with severe central core disease. ( 18614603 )
2008
26
Central core disease with family history of malignant hyperthermia: report of one case. ( 18265544 )
2007
27
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. ( 16958053 )
2007
28
Undetected central core disease myopathy in an infant presenting for clubfoot surgery. ( 17359409 )
2007
29
Central core disease due to recessive mutations in RYR1 gene: is it more common than described? ( 17226826 )
2007
30
Surgical treatment of scoliosis associated with central core disease: minimizing the effects of malignant hyperthermia with provocation tests. ( 17414792 )
2007
31
Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism. ( 17522375 )
2007
32
Malignant hyperthermia and central core disease causative mutations in Swedish patients. ( 17081152 )
2007
33
Central core disease. ( 17504518 )
2007
34
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. ( 16372898 )
2006
35
Central core disease is due to RYR1 mutations in more than 90% of patients. ( 16621918 )
2006
36
Mutations in RYR1 in malignant hyperthermia and central core disease. ( 16917943 )
2006
37
Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved. ( 15589992 )
2005
38
Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. ( 15689621 )
2005
39
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. ( 16550918 )
2005
40
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? ( 14732615 )
2004
41
Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release. ( 15175001 )
2004
42
Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. ( 15347586 )
2004
43
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. ( 15299003 )
2004
44
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease. ( 15336973 )
2004
45
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. ( 14985404 )
2004
46
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. ( 14708096 )
2004
47
Anaesthetic management of coronary artery bypass grafting in a patient with central core disease and susceptibility to malignant hyperthermia on statin therapy. ( 14570802 )
2003
48
The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. ( 12642598 )
2003
49
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. ( 12565913 )
2003
50
Central core disease: clinical, pathological, and genetic features. ( 14670767 )
2003

Variations for Central Core Disease

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

66 (show top 50) (show all 55)
id Symbol AA change Variation ID SNP ID
1 RYR1 p.Arg163Cys VAR_005590 rs118192161
2 RYR1 p.Ile403Met VAR_005593 rs118192116
3 RYR1 p.Tyr522Ser VAR_005595 rs118192162
4 RYR1 p.Arg614Cys VAR_005597 rs28933996
5 RYR1 p.Arg2163His VAR_005602 rs28933999
6 RYR1 p.Val2168Met VAR_005603 rs118192176
7 RYR1 p.Arg2435His VAR_005606 rs28933396
8 RYR1 p.Met2423Lys VAR_032915 rs118192174
9 RYR1 p.Leu13Val VAR_045694
10 RYR1 p.Arg44Cys VAR_045695 rs193922748
11 RYR1 p.Glu160Gly VAR_045696 rs193922752
12 RYR1 p.Gly215Glu VAR_045702 rs118192115
13 RYR1 p.Gly1704Ser VAR_045709 rs193922779
14 RYR1 p.Ala2421Pro VAR_045724 rs193922808
15 RYR1 p.Pro3527Ser VAR_045732 rs118192164
16 RYR1 p.Arg3539His VAR_045733 rs143987857
17 RYR1 p.Arg3772Gln VAR_045734 rs193922839
18 RYR1 p.Arg4558Gln VAR_045739 rs118192130
19 RYR1 p.Thr4637Ala VAR_045740 rs118192166
20 RYR1 p.Gly4638Asp VAR_045742 rs118192135
21 RYR1 p.Leu4650Pro VAR_045744 rs118192138
22 RYR1 p.His4651Pro VAR_045745 rs118192139
23 RYR1 p.Lys4724Gln VAR_045748 rs118192141
24 RYR1 p.Leu4793Pro VAR_045751 rs118192179
25 RYR1 p.Tyr4796Cys VAR_045752 rs118192167
26 RYR1 p.Leu4814Phe VAR_045753 rs118192142
27 RYR1 p.Arg4825Cys VAR_045755 rs118192180
28 RYR1 p.Val4842Met VAR_045758 rs193922879
29 RYR1 p.Ala4846Val VAR_045759 rs118192143
30 RYR1 p.Val4849Ile VAR_045760 rs118192168
31 RYR1 p.Arg4861Cys VAR_045762 rs118192181
32 RYR1 p.Arg4861His VAR_045763 rs63749869
33 RYR1 p.Tyr4864Cys VAR_045765 rs118192146
34 RYR1 p.Gly4891Arg VAR_045767 rs118192149
35 RYR1 p.Arg4893Gln VAR_045768 rs118192151
36 RYR1 p.Arg4893Trp VAR_045769 rs118192150
37 RYR1 p.Gly4897Val VAR_045770 rs118192148
38 RYR1 p.Ile4898Thr VAR_045771 rs118192170
39 RYR1 p.Gly4899Glu VAR_045772 rs118192183
40 RYR1 p.Gly4899Arg VAR_045773 rs193922891
41 RYR1 p.Ala4906Val VAR_045774 rs118192153
42 RYR1 p.Arg4914Gly VAR_045775 rs118192184
43 RYR1 p.Arg4914Thr VAR_045776 rs118192154
44 RYR1 p.Ile4938Met VAR_045778 rs118192159
45 RYR1 p.Ala4940Thr VAR_045780 rs118192158
46 RYR1 p.His2204Gln VAR_068515 rs141646642
47 RYR1 p.Arg2508Gly VAR_068516 rs118192178
48 RYR1 p.Arg3366His VAR_068517 rs137932199
49 RYR1 p.Tyr3933Cys VAR_068518 rs147136339
50 RYR1 p.Gly4743Asp VAR_068520 rs193922869

ClinVar genetic disease variations for Central Core Disease:

6 (show top 50) (show all 93)
id Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.7304G> A (p.Arg2435His) single nucleotide variant Pathogenic rs28933396 GRCh37 Chromosome 19, 38990637: 38990637
2 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic,risk factor rs118192161 GRCh37 Chromosome 19, 38934851: 38934851
3 RYR1 NM_000540.2(RYR1): c.1209C> G (p.Ile403Met) single nucleotide variant Pathogenic rs118192116 GRCh37 Chromosome 19, 38942490: 38942490
4 RYR1 NM_000540.2(RYR1): c.1021G> A (p.Gly341Arg) single nucleotide variant Likely pathogenic,risk factor rs121918592 GRCh37 Chromosome 19, 38939352: 38939352
5 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic,risk factor rs121918594 GRCh37 Chromosome 19, 38991295: 38991295
6 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic,risk factor rs118192175 GRCh37 Chromosome 19, 38985204: 38985204
7 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Pathogenic,risk factor rs118192163 GRCh37 Chromosome 19, 38985205: 38985205
8 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic,risk factor rs118192170 GRCh37 Chromosome 19, 39075629: 39075629
9 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh37 Chromosome 19, 39070644: 39070644
10 RYR1 NM_000540.2(RYR1): c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del) deletion Pathogenic rs118192165 GRCh37 Chromosome 19, 39055614: 39055622
11 RYR1 NM_000540.2(RYR1): c.14582G> A (p.Arg4861His) single nucleotide variant Pathogenic rs63749869 GRCh37 Chromosome 19, 39071080: 39071080
12 RYR1 NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del) deletion Pathogenic rs118192169 GRCh37 Chromosome 19, 39071085: 39071105
13 RYR1 NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala) single nucleotide variant Pathogenic/Likely pathogenic rs118192166 GRCh37 Chromosome 19, 39062821: 39062821
14 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh37 Chromosome 19, 38945999: 38945999
15 RYR1 NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr) indel Pathogenic rs118192171 GRCh37 Chromosome 19, 39075697: 39075698
16 RYR1 NM_000540.2(RYR1): c.13013_13032del20 (p.Ala4338Glyfs) deletion Pathogenic rs193922856 GRCh37 Chromosome 19, 39055987: 39056006
17 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
18 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic rs193922837 GRCh37 Chromosome 19, 39013851: 39013851
19 NP_000531.2: p.4894Q undetermined variant Pathogenic
20 RYR1 NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr) single nucleotide variant Pathogenic rs118192120 GRCh37 Chromosome 19, 38973951: 38973951
21 RYR1 NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp) single nucleotide variant Pathogenic rs118192129 GRCh37 Chromosome 19, 39055960: 39055960
22 RYR1 NM_000540.2(RYR1): c.14537C> T (p.Ala4846Val) single nucleotide variant Pathogenic rs118192143 GRCh37 Chromosome 19, 39071035: 39071035
23 RYR1 NM_000540.2(RYR1): c.178G> A (p.Asp60Asn) single nucleotide variant Pathogenic rs118192160 GRCh37 Chromosome 19, 38933001: 38933001
24 RYR1 NM_000540.2(RYR1): c.7635G> C (p.Glu2545Asp) single nucleotide variant Pathogenic rs193922820 GRCh37 Chromosome 19, 38993167: 38993167
25 RYR1 NM_000540.2(RYR1): c.13900G> A (p.Glu4634Lys) single nucleotide variant Pathogenic rs118192133 GRCh37 Chromosome 19, 39062812: 39062812
26 RYR1 NM_000540.2(RYR1): c.1534G> A (p.Glu512Lys) single nucleotide variant Pathogenic rs118192119 GRCh37 Chromosome 19, 38945968: 38945968
27 NP_000531.2: p.F4808P undetermined variant Pathogenic
28 NP_000531.2: p.F4860del deletion Pathogenic
29 NP_000531.2: p.F4906del deletion Pathogenic
30 RYR1 NM_000540.2(RYR1): c.14762T> C (p.Phe4921Ser) single nucleotide variant Pathogenic rs118192156 GRCh37 Chromosome 19, 39075698: 39075698
31 RYR1 NM_000540.2(RYR1): c.644G> A (p.Gly215Glu) single nucleotide variant Pathogenic rs118192115 GRCh37 Chromosome 19, 38937124: 38937124
32 RYR1 NM_000540.2(RYR1): c.13913G> A (p.Gly4638Asp) single nucleotide variant Pathogenic rs118192135 GRCh37 Chromosome 19, 39062825: 39062825
33 NP_000531.2: p.G4638N undetermined variant Pathogenic
34 RYR1 NM_000540.2(RYR1): c.13912G> A (p.Gly4638Ser) single nucleotide variant Pathogenic rs118192136 GRCh37 Chromosome 19, 39062824: 39062824
35 NP_000531.2: p.G4890R undetermined variant Pathogenic
36 RYR1 NM_000540.2(RYR1): c.14671G> C (p.Gly4891Arg) single nucleotide variant Pathogenic rs118192149 GRCh37 Chromosome 19, 39075607: 39075607
37 NP_000531.2: p.G4893R undetermined variant Pathogenic
38 RYR1 NM_000540.2(RYR1): c.14690G> T (p.Gly4897Val) single nucleotide variant Pathogenic rs118192148 GRCh37 Chromosome 19, 39075626: 39075626
39 NP_000531.2: p.Q160G undetermined variant Pathogenic
40 RYR1 NM_000540.2(RYR1): c.14696G> A (p.Gly4899Glu) single nucleotide variant Pathogenic rs118192183 GRCh37 Chromosome 19, 39075632: 39075632
41 NP_000531.2: p.G4899R undetermined variant Pathogenic
42 RYR1 NM_000540.2(RYR1): c.13952A> C (p.His4651Pro) single nucleotide variant Pathogenic rs118192139 GRCh37 Chromosome 19, 39062864: 39062864
43 RYR1 NM_000540.2(RYR1): c.14659C> T (p.His4887Tyr) single nucleotide variant Pathogenic rs118192147 GRCh37 Chromosome 19, 39075595: 39075595
44 RYR1 NM_000540.2(RYR1): c.7358T> C (p.Ile2453Thr) single nucleotide variant Pathogenic rs118192123 GRCh37 Chromosome 19, 38991280: 38991280
45 RYR1 NM_000540.2(RYR1): c.14814C> G (p.Ile4938Met) single nucleotide variant Pathogenic rs118192159 GRCh37 Chromosome 19, 39076588: 39076588
46 RYR1 NM_000540.2(RYR1): c.10100A> G (p.Lys3367Arg) single nucleotide variant Pathogenic rs118192126 GRCh37 Chromosome 19, 39009935: 39009935
47 RYR1 NM_000540.2(RYR1): c.14170A> C (p.Lys4724Gln) single nucleotide variant Pathogenic rs118192141 GRCh37 Chromosome 19, 39066599: 39066599
48 NP_000531.2: p.Q474H undetermined variant Pathogenic
49 RYR1 NM_000540.2(RYR1): c.10817T> C (p.Leu3606Pro) single nucleotide variant Pathogenic rs118192127 GRCh37 Chromosome 19, 39018417: 39018417
50 RYR1 NM_000540.2(RYR1): c.13703T> C (p.Leu4568Pro) single nucleotide variant Pathogenic rs118192131 GRCh37 Chromosome 19, 39061290: 39061290

Expression for Central Core Disease

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

Pathways for Central Core Disease

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

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 CACNA1S QDPR RYR1 RYR2 RYR3
2
Show member pathways
12.57 CACNA1S MYH7 RYR1 RYR2 RYR3
3
Show member pathways
12.54 CACNA1S RYR1 RYR2 RYR3
4
Show member pathways
12.49 CACNA1S RYR1 RYR2 RYR3
5
Show member pathways
12.27 CACNA1S RYR1 RYR2 RYR3
6
Show member pathways
12.24 RYR1 RYR2 RYR3
7
Show member pathways
12.19 CACNA1S RYR1 RYR2 RYR3
8
Show member pathways
12.16 CACNA1S DES NEB RYR1 RYR2 RYR3
9
Show member pathways
12.14 CACNA1S DES RYR2
10
Show member pathways
11.94 CACNA1S RYR1 RYR2 RYR3
11
Show member pathways
11.86 CACNA1S DES MYH7 RYR2
12 11.83 RYR1 RYR2 RYR3
13 11.71 CACNA1S RYR1 RYR2 RYR3
14 11.52 CACNA1S MYH7 RYR2
15 10.61 CACNA1S RYR1 RYR2 RYR3
16 10.57 CACNA1S RYR1
17 10.45 RYR1 RYR2 RYR3

GO Terms for Central Core Disease

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.54 RYR1 RYR2 RYR3
2 myofibril GO:0030016 9.49 MYH7 NEB
3 T-tubule GO:0030315 9.48 CACNA1S RYR1
4 smooth endoplasmic reticulum GO:0005790 9.46 RYR1 RYR2
5 I band GO:0031674 9.43 CACNA1S RYR1
6 sarcomere GO:0030017 9.43 MYH7 NEB RYR2
7 contractile fiber GO:0043292 9.4 DES NEB
8 sarcoplasmic reticulum GO:0016529 9.33 RYR1 RYR2 RYR3
9 junctional sarcoplasmic reticulum membrane GO:0014701 9.32 RYR1 RYR2
10 sarcoplasmic reticulum membrane GO:0033017 9.13 RYR1 RYR2 RYR3
11 Z disc GO:0030018 9.02 DES MYH7 MYOT NEB RYR2

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.81 CACNA1S RYR1 RYR2 RYR3
2 transmembrane transport GO:0055085 9.8 CACNA1S RYR1 RYR2 RYR3
3 ion transmembrane transport GO:0034220 9.72 RYR1 RYR2 RYR3
4 cellular calcium ion homeostasis GO:0006874 9.63 RYR1 RYR2 RYR3
5 regulation of cardiac conduction GO:1903779 9.58 RYR1 RYR2 RYR3
6 cellular response to calcium ion GO:0071277 9.57 RYR1 RYR3
7 cardiac muscle contraction GO:0060048 9.56 MYH7 RYR2
8 calcium ion transport GO:0006816 9.56 CACNA1S RYR1 RYR2 RYR3
9 regulation of cytosolic calcium ion concentration GO:0051480 9.54 RYR1 RYR2
10 muscle filament sliding GO:0030049 9.54 DES MYH7 NEB
11 regulation of heart rate GO:0002027 9.52 MYH7 RYR2
12 release of sequestered calcium ion into cytosol GO:0051209 9.5 RYR1 RYR2 RYR3
13 response to caffeine GO:0031000 9.48 RYR1 RYR2
14 calcium ion transmembrane transport GO:0070588 9.46 CACNA1S RYR1 RYR2 RYR3
15 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.43 RYR1 RYR2
16 muscle contraction GO:0006936 9.35 CACNA1S DES MYH7 MYOT RYR1
17 cellular response to caffeine GO:0071313 8.92 CACNA1S RYR1 RYR2 RYR3

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

id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.62 MYH7 RYR1 RYR2 RYR3
2 actin binding GO:0003779 9.61 MYH7 MYOT NEB
3 calcium channel activity GO:0005262 9.56 CACNA1S RYR1 RYR2 RYR3
4 structural constituent of muscle GO:0008307 9.4 MYOT NEB
5 voltage-gated calcium channel activity GO:0005245 9.37 CACNA1S RYR1
6 calcium-release channel activity GO:0015278 9.33 RYR1 RYR2 RYR3
7 ryanodine-sensitive calcium-release channel activity GO:0005219 9.13 RYR1 RYR2 RYR3
8 calcium-induced calcium release activity GO:0048763 8.8 RYR1 RYR2 RYR3

Sources for Central Core Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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