CCD
MCID: CNT105
MIFTS: 56

Central Core Disease of Muscle (CCD)

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

Aliases & Classifications for Central Core Disease of Muscle

MalaCards integrated aliases for Central Core Disease of Muscle:

Name: Central Core Disease of Muscle 57 53 75
Central Core Disease 57 76 24 53 25 59 37 29 13 55 6 40
Ccd 57 53 25 75
Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 57 29 6
Cco 57 53 25
Myopathy, Central Core 53 25
Central Core Myopathy 25 73
Shy-Magee Syndrome 53 25
Moderate Multiminicore Disease with Hand Involvement 59
Muscular Central Core Disease 53
Myopathy, Central Fibrillar 53
Muscle Core Disease 53

Characteristics:

Orphanet epidemiological data:

59
central core disease
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
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



GeneReviews:

24
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: 59  
Rare neurological diseases


Summaries for Central Core Disease of Muscle

NIH Rare Diseases : 53 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 if 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 malignant hyperthermia susceptibility, 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 myopathy

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 : 57 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 : 75 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 : 76 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 all 47)
# Related Disease Score Top Affiliating Genes
1 central core myopathy 32.9 CACNA1S RYR1 RYR2 SELENON
2 malignant hyperthermia susceptibility 30.2 CACNA1S RYR1
3 malignant hyperthermia 29.8 CACNA1S RYR1 RYR2
4 myopathy 26.6 DES GAA MYOT NEB RYR1 SELENON
5 cleidocranial dysplasia 11.9
6 congenital chloride diarrhea 11.7
7 cerebral creatine deficiency syndrome 1 11.0
8 cerebral creatine deficiency syndrome 2 10.9
9 multiminicore disease 10.5 RYR1 SELENON
10 malignant hyperthermia of anesthesia 10.5 CACNA1S RYR1
11 native american myopathy 10.4 CACNA1S RYR1
12 arrhythmogenic right ventricular dysplasia, familial, 2 10.3 RYR1 RYR2
13 familial periodic paralysis 10.3 CACNA1S RYR1
14 myopathy, congenital, with fiber-type disproportion 10.3 RYR1 SELENON
15 cardiac conduction defect 10.3 RYR1 RYR2
16 hypokalemic periodic paralysis, type 1 10.0 CACNA1S RYR1
17 multiple pterygium syndrome, lethal type 10.0 NEB RYR1
18 muscle disorders 10.0 RYR1 RYR2 SELENON
19 fibrosarcoma 10.0
20 congenital fiber-type disproportion 10.0 RYR1 SELENON
21 diarrhea 1, secretory chloride, congenital 9.9
22 parametritis 9.9
23 diarrhea 9.9
24 root resorption 9.9
25 rigid spine muscular dystrophy 1 9.9 GAA RYR1 SELENON
26 congenital structural myopathy 9.8 NEB RYR1 SELENON
27 myeloma, multiple 9.8
28 alacrima, achalasia, and mental retardation syndrome 9.8
29 dementia 9.8
30 dysostosis 9.8
31 enamel caries 9.8
32 cleidocranial dysplasia spectrum disorder 9.8
33 myopathy, congenital 9.8 NEB RYR1 SELENON
34 clubfoot 9.8
35 muscular dystrophy, limb-girdle, type 1e 9.6 DES MYOT
36 catecholaminergic polymorphic ventricular tachycardia 9.6 RYR1 RYR2
37 cardioneuromyopathy with hyaline masses and nemaline rods 9.6 DES NEB
38 muscle tissue disease 9.6 MYOT NEB RYR1
39 reducing body myopathy 9.6 DES NEB
40 myopathy, spheroid body 9.5 DES MYOT
41 myofibrillar myopathy 9.4 DES MYOT
42 myopathy, myofibrillar, 1 9.4 DES MYOT SELENON
43 atrial standstill 1 9.1 DES GAA MYOT
44 arrhythmogenic right ventricular cardiomyopathy 9.0 CACNA1S DES RYR1 RYR2
45 trehalase deficiency 8.9 GAA NEB RYR1 RYR2
46 neuromuscular disease 8.8 DES GAA MYOT RYR1
47 muscular dystrophy 8.2 DES MYOT NEB RYR1 SELENON

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Central Core Disease of Muscle:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
3 nemaline bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003798
4 type 1 muscle fiber predominance 59 32 hallmark (90%) Very frequent (99-80%) HP:0003803
5 motor delay 32 HP:0001270
6 neonatal hypotonia 32 HP:0001319
7 flexion contracture 32 HP:0001371
8 congenital hip dislocation 32 HP:0001374
9 pes planus 32 HP:0001763
10 fever 32 HP:0001945
11 malignant hyperthermia 32 occasional (7.5%) HP:0002047
12 kyphoscoliosis 32 HP:0002751
13 skeletal muscle atrophy 32 HP:0003202
14 generalized muscle weakness 32 HP:0003324

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:

26
# 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:

46
# 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 RYR1 SELENON CACNA1S GAA NEB

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 Central Core Disease 29 RYR1
2 Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 29

Anatomical Context for Central Core Disease of Muscle

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

41
Skeletal Muscle, Testes, Heart

Publications for Central Core Disease of Muscle

Articles related to Central Core Disease of Muscle:

(show top 50) (show all 92)
# Title Authors Year
1
Central core disease with scoliosis for congenital hip dislocation surgery: An anaesthetic demur. ( 29416159 )
2018
2
Young onset Parkinsonism in a patient with familial central core disease. ( 28290406 )
2017
3
Reduced threshold for store overload-induced Ca(2+) release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease. ( 28687594 )
2017
4
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. ( 28527222 )
2017
5
Next generation sequencing reveals RYR1 mutations in a Chinese central core disease cohort. ( 26799446 )
2016
6
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. ( 27586648 )
2016
7
Bilateral congenital lumbar hernias in a patient with central core disease--A case report. ( 26684984 )
2016
8
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. ( 26115329 )
2015
9
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
10
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. ( 27858745 )
2015
11
Novel RYR1 missense mutations in six Chinese patients with central core disease. ( 24561095 )
2014
12
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. ( 25521991 )
2014
13
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
14
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. ( 23183335 )
2013
15
Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease. ( 22550088 )
2013
16
Clinical utility gene card for: Central core disease. ( 21989361 )
2012
17
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. ( 22203976 )
2012
18
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
19
Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1. ( 21825032 )
2011
20
Familial RYR 1 mutation associated with mild and severe central core disease. ( 20724266 )
2010
21
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. ( 20142353 )
2010
22
Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. ( 20443062 )
2010
23
Central core disease and susceptibility to malignant hyperthermia in a single family. ( 19252784 )
2009
24
A patient with severe central core disease. ( 18614603 )
2008
25
Caesarean section in a complicated case of central core disease. ( 18412656 )
2008
26
Myotubular/centronuclear myopathy and central core disease. ( 18974559 )
2008
27
Emergency anaesthesia in central core disease. ( 18344580 )
2008
28
Malignant hyperthermia and central core disease causative mutations in Swedish patients. ( 17081152 )
2007
29
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. ( 16958053 )
2007
30
Central core disease. ( 17504518 )
2007
31
Central core disease with family history of malignant hyperthermia: report of one case. ( 18265544 )
2007
32
Undetected central core disease myopathy in an infant presenting for clubfoot surgery. ( 17359409 )
2007
33
Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism. ( 17522375 )
2007
34
Surgical treatment of scoliosis associated with central core disease: minimizing the effects of malignant hyperthermia with provocation tests. ( 17414792 )
2007
35
Central core disease due to recessive mutations in RYR1 gene: is it more common than described? ( 17226826 )
2007
36
Central core disease is due to RYR1 mutations in more than 90% of patients. ( 16621918 )
2006
37
Mutations in RYR1 in malignant hyperthermia and central core disease. ( 16917943 )
2006
38
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
39
Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. ( 15689621 )
2005
40
Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved. ( 15589992 )
2005
41
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. ( 16550918 )
2005
42
Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. ( 15347586 )
2004
43
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
44
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? ( 14732615 )
2004
45
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease. ( 15336973 )
2004
46
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
47
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
48
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. ( 14985404 )
2004
49
The hypotonic infant: case study of central core disease. ( 12597091 )
2003
50
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. ( 12937085 )
2003

Variations for Central Core Disease of Muscle

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

75 (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 649)
# 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 Pathogenic rs118192116 GRCh37 Chromosome 19, 38942490: 38942490
7 RYR1 NM_000540.2(RYR1): c.1209C> G (p.Ile403Met) single nucleotide variant Pathogenic rs118192116 GRCh38 Chromosome 19, 38451850: 38451850
8 RYR1 NM_000540.2(RYR1): c.1021G> A (p.Gly341Arg) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121918592 GRCh37 Chromosome 19, 38939352: 38939352
9 RYR1 NM_000540.2(RYR1): c.1021G> A (p.Gly341Arg) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs121918592 GRCh38 Chromosome 19, 38448712: 38448712
10 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic rs121918594 GRCh37 Chromosome 19, 38991295: 38991295
11 RYR1 NM_000540.2(RYR1): c.7373G> A (p.Arg2458His) single nucleotide variant Pathogenic rs121918594 GRCh38 Chromosome 19, 38500655: 38500655
12 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic rs118192175 GRCh37 Chromosome 19, 38985204: 38985204
13 RYR1 NM_000540.2(RYR1): c.6487C> T (p.Arg2163Cys) single nucleotide variant Pathogenic rs118192175 GRCh38 Chromosome 19, 38494564: 38494564
14 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Likely pathogenic rs118192163 GRCh37 Chromosome 19, 38985205: 38985205
15 RYR1 NM_000540.2(RYR1): c.6488G> A (p.Arg2163His) single nucleotide variant Likely pathogenic rs118192163 GRCh38 Chromosome 19, 38494565: 38494565
16 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh37 Chromosome 19, 39075629: 39075629
17 RYR1 NM_000540.2(RYR1): c.14693T> C (p.Ile4898Thr) single nucleotide variant Pathogenic rs118192170 GRCh38 Chromosome 19, 38584989: 38584989
18 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh37 Chromosome 19, 39070644: 39070644
19 RYR1 NM_000540.2(RYR1): c.14387A> G (p.Tyr4796Cys) single nucleotide variant Pathogenic,risk factor rs118192167 GRCh38 Chromosome 19, 38580004: 38580004
20 RYR1 NM_000540.2(RYR1): c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del) deletion Pathogenic rs118192165 GRCh37 Chromosome 19, 39055614: 39055622
21 RYR1 NM_000540.2(RYR1): c.12640_12648delCGCCAGTTC (p.Arg4214_Phe4216del) deletion Pathogenic rs118192165 GRCh38 Chromosome 19, 38564974: 38564982
22 RYR1 NM_000540.2(RYR1): c.14582G> A (p.Arg4861His) single nucleotide variant Pathogenic rs63749869 GRCh37 Chromosome 19, 39071080: 39071080
23 RYR1 NM_000540.2(RYR1): c.14582G> A (p.Arg4861His) single nucleotide variant Pathogenic rs63749869 GRCh38 Chromosome 19, 38580440: 38580440
24 RYR1 NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del) deletion Pathogenic rs118192169 GRCh37 Chromosome 19, 39071085: 39071105
25 RYR1 NM_000540.2(RYR1): c.14587_14607del21 (p.Phe4863_Asp4869del) deletion Pathogenic rs118192169 GRCh38 Chromosome 19, 38580445: 38580465
26 RYR1 NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala) single nucleotide variant Likely pathogenic rs118192166 GRCh37 Chromosome 19, 39062821: 39062821
27 RYR1 NM_000540.2(RYR1): c.13909A> G (p.Thr4637Ala) single nucleotide variant Likely pathogenic rs118192166 GRCh38 Chromosome 19, 38572181: 38572181
28 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh37 Chromosome 19, 38945999: 38945999
29 RYR1 NM_000540.2(RYR1): c.1565A> C (p.Tyr522Ser) single nucleotide variant Pathogenic,risk factor rs118192162 GRCh38 Chromosome 19, 38455359: 38455359
30 RYR1 NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr) indel Pathogenic rs118192171 GRCh37 Chromosome 19, 39075697: 39075698
31 RYR1 NM_000540.2(RYR1): c.14761_14762delTTinsAC (p.Phe4921Thr) indel Pathogenic rs118192171 GRCh38 Chromosome 19, 38585057: 38585058
32 RYR1 NM_000540.2(RYR1): c.13013_13032del20 (p.Ala4338Glyfs) deletion Pathogenic rs193922856 GRCh37 Chromosome 19, 39055987: 39056006
33 RYR1 NM_000540.2(RYR1): c.13013_13032del20 (p.Ala4338Glyfs) deletion Pathogenic rs193922856 GRCh38 Chromosome 19, 38565347: 38565366
34 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
35 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh38 Chromosome 19, 38451846: 38451846
36 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh37 Chromosome 19, 39013851: 39013851
37 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh38 Chromosome 19, 38523211: 38523211
38 NP_000531.2: p.4894Q undetermined variant Pathogenic
39 RYR1 NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr) single nucleotide variant Pathogenic rs118192120 GRCh37 Chromosome 19, 38973951: 38973951
40 RYR1 NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr) single nucleotide variant Pathogenic rs118192120 GRCh38 Chromosome 19, 38483311: 38483311
41 RYR1 NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp) single nucleotide variant Pathogenic rs118192129 GRCh37 Chromosome 19, 39055960: 39055960
42 RYR1 NM_000540.2(RYR1): c.12986C> A (p.Ala4329Asp) single nucleotide variant Pathogenic rs118192129 GRCh38 Chromosome 19, 38565320: 38565320
43 RYR1 NM_000540.2(RYR1): c.14537C> T (p.Ala4846Val) single nucleotide variant Pathogenic rs118192143 GRCh37 Chromosome 19, 39071035: 39071035
44 RYR1 NM_000540.2(RYR1): c.14537C> T (p.Ala4846Val) single nucleotide variant Pathogenic rs118192143 GRCh38 Chromosome 19, 38580395: 38580395
45 RYR1 NM_000540.2(RYR1): c.178G> A (p.Asp60Asn) single nucleotide variant Pathogenic rs118192160 GRCh37 Chromosome 19, 38933001: 38933001
46 RYR1 NM_000540.2(RYR1): c.178G> A (p.Asp60Asn) single nucleotide variant Pathogenic rs118192160 GRCh38 Chromosome 19, 38442361: 38442361
47 RYR1 NM_000540.2(RYR1): c.7635G> C (p.Glu2545Asp) single nucleotide variant Pathogenic rs193922820 GRCh37 Chromosome 19, 38993167: 38993167
48 RYR1 NM_000540.2(RYR1): c.7635G> C (p.Glu2545Asp) single nucleotide variant Pathogenic rs193922820 GRCh38 Chromosome 19, 38502527: 38502527
49 RYR1 NM_000540.2(RYR1): c.13900G> A (p.Glu4634Lys) single nucleotide variant Pathogenic rs118192133 GRCh37 Chromosome 19, 39062812: 39062812
50 RYR1 NM_000540.2(RYR1): c.13900G> A (p.Glu4634Lys) single nucleotide variant Pathogenic rs118192133 GRCh38 Chromosome 19, 38572172: 38572172

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:

37
# 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
12.34 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
11.85 CACNA1S RYR1 RYR2
6
Show member pathways
11.78 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 sarcoplasmic reticulum GO:0016529 9.49 RYR1 RYR2
2 sarcomere GO:0030017 9.48 NEB 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 I band GO:0031674 9.37 CACNA1S RYR1
7 Z disc GO:0030018 9.35 DES MYOT NEB RYR1 RYR2
8 calcium channel complex GO:0034704 9.32 RYR1 RYR2
9 contractile fiber GO:0043292 9.26 DES NEB
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.16 RYR1 RYR2
11 sarcolemma GO:0042383 9.02 CACNA1S 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 regulation of cardiac conduction GO:1903779 9.51 RYR1 RYR2
3 calcium ion transmembrane transport GO:0070588 9.5 CACNA1S RYR1 RYR2
4 cardiac muscle contraction GO:0060048 9.49 GAA RYR2
5 regulation of cytosolic calcium ion concentration GO:0051480 9.48 RYR1 RYR2
6 release of sequestered calcium ion into cytosol GO:0051209 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 ryanodine-sensitive calcium-release channel activity GO:0005219 8.96 RYR1 RYR2
7 calcium-induced calcium release activity GO:0048763 8.62 RYR1 RYR2

Sources for Central Core Disease of Muscle

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....