CCD
MCID: CNT105
MIFTS: 59

Central Core Disease of Muscle (CCD)

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

Aliases & Classifications for Central Core Disease of Muscle

MalaCards integrated aliases for Central Core Disease of Muscle:

Name: Central Core Disease of Muscle 58 54 76
Central Core Disease 58 77 25 54 26 60 38 13 56 41
Myopathy, Central Core 54 26 30 6
Ccd 58 54 26 76
Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 58 30 6
Cco 58 54 26
Central Core Myopathy 26 74
Shy-Magee Syndrome 54 26
Moderate Multiminicore Disease with Hand Involvement 60
Muscular Central Core Disease 54
Myopathy, Central Fibrillar 54
Muscle Core Disease 54

Characteristics:

Orphanet epidemiological data:

60
central core disease
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in infancy
nonprogressive or slowly progressive
phenotypic variability
autosomal recessive cases have been reported
autosomal recessive cases tend to have a more severe phenotype
associated with malignant hyperthermia (mhs, )
the relationship of central core disease to moderate multiminicore with hand involvement is unclear, for a description of classic multiminicore disease, see


HPO:

33
central core disease of muscle:
Onset and clinical course infantile onset slow progression nonprogressive
Inheritance autosomal dominant inheritance autosomal recessive inheritance


GeneReviews:

25
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: 60  
Rare neurological diseases


Summaries for Central Core Disease of Muscle

NIH Rare Diseases : 54 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 pathogenic variants (mutations). Treatment depends on the severity of symptoms and is mainly supportive. Muscle weakness and skeletal abnormalities may benefit from physical therapy or surgery. Avoidance of inhaled anesthetics and succinylcholine can help prevent complications from malignant hyperthermia. 

MalaCards based summary : Central Core Disease of Muscle, also known as central core disease, is related to central core myopathy and myopathy, congenital, and has symptoms including generalized muscle weakness An important gene associated with Central Core Disease of Muscle is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways are Calcium signaling pathway and Long-term depression. Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are muscular hypotonia and facial palsy

Genetics Home Reference : 26 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 : 58 Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1; 145600). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013). (117000)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Central core disease (CCD), also known as central core myopathy, is an autosomal dominantcongenital... more...

GeneReviews: NBK1391

Related Diseases for Central Core Disease of Muscle

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 central core myopathy 32.1 CACNA1S RYR1 RYR2 SELENON
2 myopathy, congenital 31.7 GAA NEB RYR1 SELENON
3 malignant hyperthermia susceptibility 30.2 CACNA1S RYR1
4 malignant hyperthermia 30.0 CACNA1S RYR1 RYR2
5 multiminicore disease 29.9 RYR1 SELENON
6 muscle disorders 29.6 RYR1 RYR2 SELENON
7 neuromuscular disease 28.7 DES GAA MYOT RYR1
8 myopathy 28.5 DES GAA MYOT NEB RYR1 SELENON
9 cleidocranial dysplasia 12.2
10 congenital chloride diarrhea 11.9
11 malignant hyperthermia 1 11.4
12 cerebral creatine deficiency syndrome 1 11.2
13 cerebral creatine deficiency syndrome 2 11.1
14 malignant hyperthermia of anesthesia 10.2 CACNA1S RYR1
15 myopathy, congenital, bailey-bloch 10.2 CACNA1S RYR1
16 familial periodic paralysis 10.2 CACNA1S RYR1
17 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 RYR1 RYR2
18 scoliosis 10.1
19 retinoblastoma 10.1
20 fibrosarcoma 10.1
21 cardiac conduction defect 10.1 RYR1 RYR2
22 myopathy, congenital, with fiber-type disproportion 10.1 RYR1 SELENON
23 diarrhea 1, secretory chloride, congenital 10.1
24 diarrhea 10.1
25 root resorption 10.1
26 pathologic nystagmus 10.1
27 hypokalemic periodic paralysis, type 1 10.1 CACNA1S RYR1
28 multiple pterygium syndrome, lethal type 10.0 NEB RYR1
29 congenital fiber-type disproportion 10.0 RYR1 SELENON
30 andersen cardiodysrhythmic periodic paralysis 10.0 CACNA1S RYR2
31 rigid spine muscular dystrophy 1 9.9 GAA RYR1 SELENON
32 blood group, colton system 9.9
33 neutrophil migration 9.9
34 tetralogy of fallot 9.9
35 bietti crystalline corneoretinal dystrophy 9.9
36 cystic fibrosis 9.9
37 myeloma, multiple 9.9
38 polycythemia vera 9.9
39 ventricular fibrillation, paroxysmal familial, 1 9.9
40 retinitis pigmentosa 4 9.9
41 alacrima, achalasia, and mental retardation syndrome 9.9
42 dementia 9.9
43 azoospermia 9.9
44 dysostosis 9.9
45 enamel caries 9.9
46 spindle cell hemangioma 9.9
47 human immunodeficiency virus infectious disease 9.9
48 fibromyalgia 9.9
49 cleidocranial dysplasia spectrum disorder 9.9
50 polymyositis 9.9

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



Diseases related to Central Core Disease of Muscle

Symptoms & Phenotypes for Central Core Disease of Muscle

Human phenotypes related to Central Core Disease of Muscle:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
2 facial palsy 60 33 frequent (33%) Frequent (79-30%) HP:0010628
3 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
4 neonatal hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001319
5 myopathy 60 33 frequent (33%) Frequent (79-30%) HP:0003198
6 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
7 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
8 motor delay 60 33 frequent (33%) Frequent (79-30%) HP:0001270
9 congenital hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001374
10 joint laxity 60 33 frequent (33%) Frequent (79-30%) HP:0001388
11 mitral valve prolapse 60 33 frequent (33%) Frequent (79-30%) HP:0001634
12 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001762
13 malignant hyperthermia 60 33 occasional (7.5%) Frequent (79-30%) HP:0002047
14 kyphoscoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002751
15 multiple joint contractures 60 33 frequent (33%) Frequent (79-30%) HP:0002828
16 easy fatigability 60 33 frequent (33%) Frequent (79-30%) HP:0003388
17 muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0003552
18 pelvic girdle muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003749
19 type 1 muscle fiber predominance 60 33 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0003803
20 central core regions in muscle fibers 60 33 frequent (33%) Frequent (79-30%) HP:0030230
21 axial muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003327
22 difficulty running 60 33 frequent (33%) Frequent (79-30%) HP:0009046
23 delayed gross motor development 60 33 frequent (33%) Frequent (79-30%) HP:0002194
24 intrinsic hand muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008954
25 distal upper limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0008959
26 hyporeflexia of upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0012391
27 ophthalmoplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000602
28 bulbar signs 60 33 occasional (7.5%) Occasional (29-5%) HP:0002483
29 nemaline bodies 60 33 occasional (7.5%) Occasional (29-5%) HP:0003798
30 knee dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0004976
31 recurrent patellar dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0005001
32 respiratory insufficiency due to muscle weakness 60 33 very rare (1%) Very rare (<4-1%) HP:0002747
33 fetal akinesia sequence 60 33 very rare (1%) Very rare (<4-1%) HP:0001989
34 neonatal respiratory distress 60 33 very rare (1%) Very rare (<4-1%) HP:0002643
35 elevated serum creatine kinase 33 very rare (1%) HP:0003236
36 flexion contracture 33 HP:0001371
37 fever 33 HP:0001945
38 elevated serum creatine phosphokinase 60 Very rare (<4-1%)
39 skeletal muscle atrophy 33 HP:0003202
40 abnormal levels of creatine kinase in blood 60 Occasional (29-5%)
41 rectus femoris muscle atrophy 60 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
neonatal hypotonia
type 1 muscle fiber predominance
muscle atrophy
muscle weakness, diffuse
type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria
more
Skeletal Feet:
flat feet
foot deformities

Skeletal:
joint contractures

Skeletal Spine:
kyphoscoliosis

Neurologic Central Nervous System:
delayed motor development

Skeletal Pelvis:
congenital dislocation of the hips

Clinical features from OMIM:

117000

UMLS symptoms related to Central Core Disease of Muscle:


generalized muscle weakness

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

27
# 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 of Muscle:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CACNA1S DES GAA NEB RYR1 RYR2
2 homeostasis/metabolism MP:0005376 9.7 CACNA1S DES GAA NEB RYR1 RYR2
3 muscle MP:0005369 9.5 CACNA1S DES GAA NEB RYR1 RYR2
4 skeleton MP:0005390 9.02 CACNA1S GAA NEB RYR1 SELENON

Drugs & Therapeutics for Central Core Disease of Muscle

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular and Genetic Studies of Congenital Myopathies Recruiting NCT00272883
2 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

Search NIH Clinical Center for Central Core Disease of Muscle

Genetic Tests for Central Core Disease of Muscle

Genetic tests related to Central Core Disease of Muscle:

# Genetic test Affiliating Genes
1 Myopathy, Central Core 30 RYR1
2 Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 30

Anatomical Context for Central Core Disease of Muscle

MalaCards organs/tissues related to Central Core Disease of Muscle:

42
Skeletal Muscle, Testes, Heart, Bone, Neutrophil

Publications for Central Core Disease of Muscle

Articles related to Central Core Disease of Muscle:

(show top 50) (show all 166)
# Title Authors Year
1
Parental mosaicism in RYR1-related Central Core Disease. ( 29576327 )
2018
2
Central core disease with scoliosis for congenital hip dislocation surgery: An anaesthetic demur. ( 29416159 )
2018
3
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
4
Young onset Parkinsonism in a patient with familial central core disease. ( 28290406 )
2017
5
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease. ( 28687594 )
2017
6
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. ( 28527222 )
2017
7
Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort. ( 26799446 )
2016
8
Bilateral congenital lumbar hernias in a patient with central core disease--A case report. ( 26684984 )
2016
9
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. ( 27586648 )
2016
10
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
11
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. ( 27858745 )
2015
12
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
13
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. ( 26115329 )
2015
14
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
15
Novel RYR1 missense mutations in six Chinese patients with central core disease. ( 24561095 )
2014
16
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. ( 25521991 )
2014
17
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
18
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. ( 23183335 )
2013
19
Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease. ( 22550088 )
2013
20
Clinical utility gene card for: Multi-minicore disease. ( 22009146 )
2012
21
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. ( 22203976 )
2012
22
Clinical utility gene card for: Central core disease. ( 21989361 )
2012
23
Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1. ( 21825032 )
2011
24
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
25
Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. ( 20443062 )
2010
26
Familial RYR 1 mutation associated with mild and severe central core disease. ( 20724266 )
2010
27
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. ( 20142353 )
2010
28
Central core disease and susceptibility to malignant hyperthermia in a single family. ( 19252784 )
2009
29
Emergency anaesthesia in central core disease. ( 18344580 )
2008
30
Caesarean section in a complicated case of central core disease. ( 18412656 )
2008
31
A patient with severe central core disease. ( 18614603 )
2008
32
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. ( 17538032 )
2008
33
Myotubular/centronuclear myopathy and central core disease. ( 18974559 )
2008
34
Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism. ( 17522375 )
2007
35
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. ( 16958053 )
2007
36
Central core disease due to recessive mutations in RYR1 gene: is it more common than described? ( 17226826 )
2007
37
Central core disease. ( 17504518 )
2007
38
Undetected central core disease myopathy in an infant presenting for clubfoot surgery. ( 17359409 )
2007
39
Central core disease with family history of malignant hyperthermia: report of one case. ( 18265544 )
2007
40
Surgical treatment of scoliosis associated with central core disease: minimizing the effects of malignant hyperthermia with provocation tests. ( 17414792 )
2007
41
Malignant hyperthermia and central core disease causative mutations in Swedish patients. ( 17081152 )
2007
42
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
43
Central core disease: atypical case with respiratory insufficiency in an intensive care unit. ( 16566888 )
2006
44
Central core disease is due to RYR1 mutations in more than 90% of patients. ( 16621918 )
2006
45
Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature. ( 16866299 )
2006
46
Mutations in RYR1 in malignant hyperthermia and central core disease. ( 16917943 )
2006
47
A case report of severe kyphoscoliosis and autofusion of the posterior elements in two siblings with central core disease. ( 15644748 )
2005
48
Progressive scoliosis in central core disease. ( 15926054 )
2005
49
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. ( 16550918 )
2005
50
Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. ( 15689621 )
2005

Variations for Central Core Disease of Muscle

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

76 (show top 50) (show all 55)
# 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 rs118192172
5 RYR1 p.Arg2163His VAR_005602 rs118192163
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 of Muscle:

6 (show top 50) (show all 877)
# 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.7304G> A (p.Arg2435His) single nucleotide variant Pathogenic rs28933396 GRCh38 Chromosome 19, 38499997: 38499997
3 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118192161 GRCh37 Chromosome 19, 38934851: 38934851
4 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118192161 GRCh38 Chromosome 19, 38444211: 38444211
5 RYR1 NM_000540.2(RYR1): c.487C> T (p.Arg163Cys) single nucleotide variant Pathogenic rs118192161 NCBI36 Chromosome 19, 43626691: 43626691
6 RYR1 NM_000540.2(RYR1): c.1209C> G (p.Ile403Met) single nucleotide variant Likely pathogenic rs118192116 GRCh37 Chromosome 19, 38942490: 38942490
7 RYR1 NM_000540.2(RYR1): c.1209C> G (p.Ile403Met) single nucleotide variant Likely pathogenic rs118192116 GRCh38 Chromosome 19, 38451850: 38451850
8 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic rs121918594 GRCh37 Chromosome 19, 38991295: 38991295
9 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic rs121918594 GRCh38 Chromosome 19, 38500655: 38500655
10 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic rs118192175 GRCh37 Chromosome 19, 38985204: 38985204
11 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic rs118192175 GRCh38 Chromosome 19, 38494564: 38494564
12 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192163 GRCh37 Chromosome 19, 38985205: 38985205
13 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs118192163 GRCh38 Chromosome 19, 38494565: 38494565
14 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh37 Chromosome 19, 39075629: 39075629
15 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh38 Chromosome 19, 38584989: 38584989
16 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh37 Chromosome 19, 39070644: 39070644
17 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh38 Chromosome 19, 38580004: 38580004
18 RYR1 NM_000540.2(RYR1): c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del) deletion Pathogenic rs118192165 GRCh37 Chromosome 19, 39055614: 39055622
19 RYR1 NM_000540.2(RYR1): c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del) deletion Pathogenic rs118192165 GRCh38 Chromosome 19, 38564974: 38564982
20 RYR1 NM_000540.2(RYR1): c.14582G> A (p.Arg4861His) single nucleotide variant Pathogenic rs63749869 GRCh37 Chromosome 19, 39071080: 39071080
21 RYR1 NM_000540.2(RYR1): c.14582G> A (p.Arg4861His) single nucleotide variant Pathogenic rs63749869 GRCh38 Chromosome 19, 38580440: 38580440
22 RYR1 NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del) deletion Pathogenic rs118192169 GRCh37 Chromosome 19, 39071085: 39071105
23 RYR1 NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del) deletion Pathogenic rs118192169 GRCh38 Chromosome 19, 38580445: 38580465
24 RYR1 NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala) single nucleotide variant Pathogenic/Likely pathogenic rs118192166 GRCh37 Chromosome 19, 39062821: 39062821
25 RYR1 NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala) single nucleotide variant Pathogenic/Likely pathogenic rs118192166 GRCh38 Chromosome 19, 38572181: 38572181
26 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh37 Chromosome 19, 38945999: 38945999
27 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh38 Chromosome 19, 38455359: 38455359
28 RYR1 NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr) indel Pathogenic rs118192171 GRCh37 Chromosome 19, 39075697: 39075698
29 RYR1 NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr) indel Pathogenic rs118192171 GRCh38 Chromosome 19, 38585057: 38585058
30 RYR1 NM_000540.2(RYR1): c.13013_13032del20 (p.Ala4338Glyfs) deletion Pathogenic rs193922856 GRCh37 Chromosome 19, 39055987: 39056006
31 RYR1 NM_000540.2(RYR1): c.13013_13032del20 (p.Ala4338Glyfs) deletion Pathogenic rs193922856 GRCh38 Chromosome 19, 38565347: 38565366
32 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh37 Chromosome 19, 38995998: 38995998
33 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh38 Chromosome 19, 38505358: 38505358
34 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh37 Chromosome 19, 39034444: 39034444
35 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh38 Chromosome 19, 38543804: 38543804
36 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh37 Chromosome 19, 39002893: 39002893
37 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh38 Chromosome 19, 38512253: 38512253
38 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh37 Chromosome 19, 39010039: 39010039
39 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh38 Chromosome 19, 38519399: 38519399
40 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
41 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh38 Chromosome 19, 38451846: 38451846
42 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh37 Chromosome 19, 39013851: 39013851
43 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh38 Chromosome 19, 38523211: 38523211
44 RYR1 NM_000540.2(RYR1): c.5495G> C (p.Gly1832Ala) single nucleotide variant Benign rs193922784 GRCh37 Chromosome 19, 38976790: 38976790
45 RYR1 NM_000540.2(RYR1): c.5495G> C (p.Gly1832Ala) single nucleotide variant Benign rs193922784 GRCh38 Chromosome 19, 38486150: 38486150
46 NP_000531.2: p.4894Q undetermined variant Pathogenic
47 RYR1 NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr) single nucleotide variant Uncertain significance rs118192120 GRCh37 Chromosome 19, 38973951: 38973951
48 RYR1 NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr) single nucleotide variant Uncertain significance rs118192120 GRCh38 Chromosome 19, 38483311: 38483311
49 RYR1 NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp) single nucleotide variant Pathogenic rs118192129 GRCh37 Chromosome 19, 39055960: 39055960
50 RYR1 NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp) single nucleotide variant Pathogenic rs118192129 GRCh38 Chromosome 19, 38565320: 38565320

Expression for Central Core Disease of Muscle

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

Pathways for Central Core Disease of Muscle

Pathways related to Central Core Disease of Muscle according to KEGG:

38
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Long-term depression hsa04730

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 CACNA1S RYR1 RYR2
2
Show member pathways
12.14 CACNA1S RYR1 RYR2
3
Show member pathways
12.09 CACNA1S RYR1 RYR2
4
Show member pathways
12.01 CACNA1S DES RYR2
5
Show member pathways
11.86 CACNA1S RYR1 RYR2
6
Show member pathways
11.79 CACNA1S DES RYR2
7
Show member pathways
11.75 CACNA1S DES NEB RYR1 RYR2
8 11.65 CACNA1S RYR1 RYR2
9 11.4 CACNA1S RYR2
10 11.35 DES NEB
11 10.82 CACNA1S RYR1 RYR2
12 10.37 RYR1 RYR2
13 10.23 CACNA1S RYR1

GO Terms for Central Core Disease of Muscle

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.49 NEB RYR2
2 sarcoplasmic reticulum GO:0016529 9.48 RYR1 RYR2
3 T-tubule GO:0030315 9.46 CACNA1S RYR1
4 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR1 RYR2
5 smooth endoplasmic reticulum GO:0005790 9.4 RYR1 RYR2
6 calcium channel complex GO:0034704 9.37 RYR1 RYR2
7 Z disc GO:0030018 9.35 DES MYOT NEB RYR1 RYR2
8 I band GO:0031674 9.32 CACNA1S RYR1
9 contractile fiber GO:0043292 9.26 DES NEB
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.16 RYR1 RYR2
11 sarcolemma GO:0042383 8.92 DES MYOT RYR1 RYR2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.54 CACNA1S RYR1 RYR2
2 cardiac muscle contraction GO:0060048 9.51 GAA RYR2
3 calcium ion transmembrane transport GO:0070588 9.5 CACNA1S RYR1 RYR2
4 regulation of cytosolic calcium ion concentration GO:0051480 9.49 RYR1 RYR2
5 release of sequestered calcium ion into cytosol GO:0051209 9.48 RYR1 RYR2
6 regulation of cardiac conduction GO:1903779 9.46 RYR1 RYR2
7 muscle filament sliding GO:0030049 9.43 DES NEB
8 skeletal muscle fiber development GO:0048741 9.4 RYR1 SELENON
9 response to caffeine GO:0031000 9.26 RYR1 RYR2
10 muscle contraction GO:0006936 9.26 CACNA1S DES MYOT RYR1
11 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.16 RYR1 RYR2
12 cellular response to caffeine GO:0071313 8.8 CACNA1S RYR1 RYR2

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.5 CACNA1S RYR1 RYR2
2 structural constituent of muscle GO:0008307 9.4 MYOT NEB
3 voltage-gated calcium channel activity GO:0005245 9.37 CACNA1S RYR1
4 calcium channel activity GO:0005262 9.33 CACNA1S RYR1 RYR2
5 calcium-release channel activity GO:0015278 9.26 RYR1 RYR2
6 calcium-induced calcium release activity GO:0048763 8.96 RYR1 RYR2
7 ryanodine-sensitive calcium-release channel activity GO:0005219 8.62 RYR1 RYR2

Sources for Central Core Disease of Muscle

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....