CCD
MCID: CNT105
MIFTS: 62

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 57 53 75
Central Core Disease 57 76 24 53 25 59 37 13 55 40
Myopathy, Central Core 53 25 29 6
Ccd 57 53 25 75
Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 57 29 6
Cco 57 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 myopathy, congenital and central core myopathy, 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 : 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 top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 31.9 SELENON RYR1 NEB GAA
2 central core myopathy 31.7 SELENON RYR2 RYR1 CACNA1S
3 malignant hyperthermia susceptibility 30.2 RYR1 CACNA1S
4 malignant hyperthermia 30.1 RYR2 RYR1 CACNA1S
5 myopathy 29.1 SELENON RYR1 NEB MYOT GAA DES
6 neuromuscular disease 29.0 RYR1 MYOT GAA DES
7 cleidocranial dysplasia 12.1
8 congenital chloride diarrhea 11.9
9 cerebral creatine deficiency syndrome 1 11.2
10 malignant hyperthermia 1 11.0
11 cerebral creatine deficiency syndrome 2 11.0
12 retinal disease 11.0
13 scoliosis 10.1
14 multiminicore disease 10.1 SELENON RYR1
15 malignant hyperthermia of anesthesia 10.1 RYR1 CACNA1S
16 fibrosarcoma 10.1
17 myopathy, congenital, bailey-bloch 10.1 RYR1 CACNA1S
18 familial periodic paralysis 10.1 RYR1 CACNA1S
19 arrhythmogenic right ventricular dysplasia, familial, 2 10.1 RYR2 RYR1
20 cardiac conduction defect 10.1 RYR2 RYR1
21 diarrhea 1, secretory chloride, congenital 10.1
22 diarrhea 10.1
23 root resorption 10.1
24 myopathy, congenital, with fiber-type disproportion 10.1 SELENON RYR1
25 hypokalemic periodic paralysis, type 1 10.0 RYR1 CACNA1S
26 multiple pterygium syndrome, lethal type 10.0 RYR1 NEB
27 muscle disorders 10.0 SELENON RYR2 RYR1
28 congenital fiber-type disproportion 10.0 SELENON RYR1
29 andersen cardiodysrhythmic periodic paralysis 10.0 RYR2 CACNA1S
30 rigid spine muscular dystrophy 1 10.0 SELENON RYR1 GAA
31 congenital structural myopathy 9.9 SELENON RYR1 NEB
32 myeloma, multiple 9.9
33 alacrima, achalasia, and mental retardation syndrome 9.9
34 dementia 9.9
35 azoospermia 9.9
36 dysostosis 9.9
37 enamel caries 9.9
38 spindle cell hemangioma 9.9
39 human immunodeficiency virus infectious disease 9.9
40 cleidocranial dysplasia spectrum disorder 9.9
41 polymyositis 9.9
42 fibromyalgia 9.9
43 catecholaminergic polymorphic ventricular tachycardia 9.9 RYR2 RYR1
44 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 MYOT DES
45 clubfoot 9.9
46 spinal muscular atrophy 9.9
47 ptosis 9.9
48 congenital ptosis 9.9
49 muscular atrophy 9.9
50 cardioneuromyopathy with hyaline masses and nemaline rods 9.9 NEB DES

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 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
2 facial palsy 59 32 frequent (33%) Frequent (79-30%) HP:0010628
3 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
4 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
5 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
6 respiratory insufficiency due to muscle weakness 59 32 very rare (1%) Very rare (<4-1%) HP:0002747
7 elevated serum creatine phosphokinase 59 32 very rare (1%) Very rare (<4-1%) HP:0003236
8 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
9 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
10 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
11 congenital hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001374
12 joint laxity 59 32 frequent (33%) Frequent (79-30%) HP:0001388
13 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001762
14 fetal akinesia sequence 59 32 frequent (33%) Frequent (79-30%) HP:0001989
15 malignant hyperthermia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002047
16 easy fatigability 59 32 frequent (33%) Frequent (79-30%) HP:0003388
17 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
18 pelvic girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003749
19 nemaline bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003798
20 type 1 muscle fiber predominance 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0003803
21 bulbar signs 59 32 occasional (7.5%) Occasional (29-5%) HP:0002483
22 axial muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003327
23 difficulty running 59 32 frequent (33%) Frequent (79-30%) HP:0009046
24 delayed gross motor development 59 32 frequent (33%) Frequent (79-30%) HP:0002194
25 distal upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0008959
26 hyporeflexia of upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0012391
27 knee dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0004976
28 recurrent patellar dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005001
29 intrinsic hand muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008954
30 flexion contracture 32 HP:0001371
31 fever 32 HP:0001945
32 skeletal muscle atrophy 32 HP:0003202
33 kyphoscoliosis 32 HP:0002751

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 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 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, Bone

Publications for Central Core Disease of Muscle

Articles related to Central Core Disease of Muscle:

(show top 50) (show all 150)
# Title Authors Year
1
Central core disease with scoliosis for congenital hip dislocation surgery: An anaesthetic demur. ( 29416159 )
2018
2
Parental mosaicism in RYR1-related Central Core Disease. ( 29576327 )
2018
3
Young onset Parkinsonism in a patient with familial central core disease. ( 28290406 )
2017
4
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
5
Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. ( 28527222 )
2017
6
Next generation sequencing reveals RYR1 mutations in a Chinese central core disease cohort. ( 26799446 )
2016
7
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel. ( 27586648 )
2016
8
Bilateral congenital lumbar hernias in a patient with central core disease--A case report. ( 26684984 )
2016
9
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region. ( 26115329 )
2015
10
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
11
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. ( 27858745 )
2015
12
Novel RYR1 missense mutations in six Chinese patients with central core disease. ( 24561095 )
2014
13
Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis. ( 25521991 )
2014
14
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I&amp;gt;T pathogenic mutation in central core disease: a case report. ( 25084811 )
2014
15
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. ( 23183335 )
2013
16
Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease. ( 22550088 )
2013
17
Clinical utility gene card for: Central core disease. ( 21989361 )
2012
18
Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. ( 22203976 )
2012
19
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
20
Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1. ( 21825032 )
2011
21
Familial RYR 1 mutation associated with mild and severe central core disease. ( 20724266 )
2010
22
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. ( 20142353 )
2010
23
Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. ( 20443062 )
2010
24
Central core disease and susceptibility to malignant hyperthermia in a single family. ( 19252784 )
2009
25
A patient with severe central core disease. ( 18614603 )
2008
26
Caesarean section in a complicated case of central core disease. ( 18412656 )
2008
27
Myotubular/centronuclear myopathy and central core disease. ( 18974559 )
2008
28
Emergency anaesthesia in central core disease. ( 18344580 )
2008
29
Malignant hyperthermia and central core disease causative mutations in Swedish patients. ( 17081152 )
2007
30
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. ( 16958053 )
2007
31
Central core disease. ( 17504518 )
2007
32
Central core disease with family history of malignant hyperthermia: report of one case. ( 18265544 )
2007
33
Undetected central core disease myopathy in an infant presenting for clubfoot surgery. ( 17359409 )
2007
34
Novel presentation of central core disease with nemaline bodies (rods) in the setting of diploid/triploid mosaicism. ( 17522375 )
2007
35
Surgical treatment of scoliosis associated with central core disease: minimizing the effects of malignant hyperthermia with provocation tests. ( 17414792 )
2007
36
Central core disease due to recessive mutations in RYR1 gene: is it more common than described? ( 17226826 )
2007
37
Central core disease is due to RYR1 mutations in more than 90% of patients. ( 16621918 )
2006
38
Mutations in RYR1 in malignant hyperthermia and central core disease. ( 16917943 )
2006
39
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
40
Central core disease: atypical case with respiratory insufficiency in an intensive care unit. ( 16566888 )
2006
41
Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature. ( 16866299 )
2006
42
Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. ( 15689621 )
2005
43
Intracellular Ca2+ dynamics in malignant hyperthermia and central core disease: established concepts, new cellular mechanisms involved. ( 15589992 )
2005
44
Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. ( 16550918 )
2005
45
A case report of severe kyphoscoliosis and autofusion of the posterior elements in two siblings with central core disease. ( 15644748 )
2005
46
Progressive scoliosis in central core disease. ( 15926054 )
2005
47
Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. ( 15347586 )
2004
48
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
49
Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? ( 14732615 )
2004
50
Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease. ( 15336973 )
2004

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 842)
# 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.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh37 Chromosome 19, 38995998: 38995998
35 RYR1 NM_000540.2(RYR1): c.8360C> G (p.Thr2787Ser) single nucleotide variant Benign/Likely benign rs35180584 GRCh38 Chromosome 19, 38505358: 38505358
36 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh37 Chromosome 19, 39034444: 39034444
37 RYR1 NM_000540.2(RYR1): c.11941C> T (p.His3981Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs148772854 GRCh38 Chromosome 19, 38543804: 38543804
38 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh37 Chromosome 19, 39002893: 39002893
39 RYR1 NM_000540.2(RYR1): c.9242T> C (p.Met3081Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs147012990 GRCh38 Chromosome 19, 38512253: 38512253
40 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh37 Chromosome 19, 39010039: 39010039
41 RYR1 NM_000540.2(RYR1): c.10204T> G (p.Cys3402Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs367543058 GRCh38 Chromosome 19, 38519399: 38519399
42 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh37 Chromosome 19, 38942486: 38942486
43 RYR1 NM_000540.2(RYR1): c.1205T> C (p.Met402Thr) single nucleotide variant Pathogenic rs118192117 GRCh38 Chromosome 19, 38451846: 38451846
44 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh37 Chromosome 19, 39013851: 39013851
45 RYR1 NM_000540.2(RYR1): c.10348-6C> G single nucleotide variant Pathogenic/Likely pathogenic rs193922837 GRCh38 Chromosome 19, 38523211: 38523211
46 RYR1 NM_000540.2(RYR1): c.5495G> C (p.Gly1832Ala) single nucleotide variant Benign rs193922784 GRCh37 Chromosome 19, 38976790: 38976790
47 RYR1 NM_000540.2(RYR1): c.5495G> C (p.Gly1832Ala) single nucleotide variant Benign rs193922784 GRCh38 Chromosome 19, 38486150: 38486150
48 RYR1 NP_000531.2: p.Val2550Leu undetermined variant Benign
49 RYR1 NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr) single nucleotide variant Pathogenic rs118192120 GRCh37 Chromosome 19, 38973951: 38973951
50 RYR1 NM_000540.2(RYR1): c.4729G> A (p.Ala1577Thr) single nucleotide variant Pathogenic rs118192120 GRCh38 Chromosome 19, 38483311: 38483311

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 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 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 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 8.92 CACNA1S RYR1 RYR2 SELENON

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 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
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