CCD
MCID: CNT105
MIFTS: 60

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 56 52 73
Central Core Disease 56 74 52 25 58 36 13 54 39
Ccd 56 52 25 73
Neuromuscular Disease, Congenital, with Uniform Type 1 Fiber 56 29 6
Cco 56 52 25
Myopathy, Central Core 52 25
Central Core Myopathy 25 71
Shy-Magee Syndrome 52 25
Moderate Multiminicore Disease with Hand Involvement 58
Muscular Central Core Disease 52
Myopathy, Central Fibrillar 52
Muscle Core Disease 52
Shy's Disease 25

Characteristics:

Orphanet epidemiological data:

58
central core disease
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
phenotypic variability
onset in infancy
nonprogressive or slowly progressive
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

Inheritance:
autosomal recessive
autosomal dominant


HPO:

31
central core disease of muscle:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Central Core Disease of Muscle

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 barely noticeable to very severe. The severity of muscle weakness may differ even among affected members of the same family. Most people with central core disease experience persistent, mild muscle weakness that does not worsen with time. This weakness affects the muscles near the center of the body (proximal muscles), particularly muscles in the shoulders, upper legs, and hips. Muscle weakness in affected infants can delay the development of motor skills such as sitting, standing, and walking; most people with this condition are able to walk independently. Affected individuals may experience muscle pain (myalgia) or extreme fatigue in response to physical activity (exercise intolerance). Central core disease is also associated with eyes that do not look in the same direction (strabismus), a rounded upper back that also curves to the side (kyphoscoliosis), foot deformities, hip dislocation, and joint deformities called contractures that restrict the movement of certain joints. In severe cases, affected infants experience weakness in the muscles of the face, profound low muscle tone (hypotonia), and serious or life-threatening breathing problems. Many people with central core disease also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic gases, which are used to block the sensation of pain, either given alone or in combination with a muscle relaxant that is used to temporarily paralyze a person during a surgical procedure. If given these drugs, people at risk of malignant hyperthermia may experience a rapid increase in heart rate (tachycardia) and body temperature (hyperthermia), abnormally fast breathing (tachypnea), muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), and increased acid levels in the blood and other tissues (acidosis). The complications of malignant hyperthermia can be life-threatening unless they are treated promptly. Central core disease gets its name from disorganized areas called central cores, which are typically found in the center of skeletal muscle cells, but can be at the edges or span the length of the cell, in many affected individuals. These abnormal regions can only been seen when muscle tissue is viewed under a microscope. These central cores are often present in cells with few or no mitochondria, which produce energy within cells. Although the presence of central cores can help doctors diagnose central core disease, it is unclear how they are related to muscle weakness and the other features of this condition.

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. The drugs Acetylcysteine and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are muscular hypotonia and pes planus

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 Central core disease (CCD) is an inherited neuromuscular disorder characterized by central cores on muscle biopsy and clinical features of a congenital myopathy. CCD is usually inherited as an autosomal dominant trait but recessive inheritance has been recently described in few families. The clinical phenotype of dominantly inherited CCD is variable but usually mild and non-progressive; however, more severe forms including the fetal akinesia syndrome have also been reported associated with recessive or de novo dominant mutations. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle. CCD is due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1). Altered excitability and/or changes in calcium homeostasis within muscle cells due to mutation-induced conformational changes of the RyR protein are considered the main pathogenetic mechanisms.

UniProtKB/Swiss-Prot : 73 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 : 74 Central core disease (CCD), also known as central core myopathy, is an autosomal dominantly inherited... more...

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 146)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 31.8 SELENON RYR1 NEB GAA
2 central core myopathy 31.4 SELENON RYR2 RYR1 NEB CACNA1S
3 multiminicore disease 30.5 SELENON RYR1
4 malignant hyperthermia susceptibility 30.4 RYR1 CACNA1S
5 malignant hyperthermia 29.8 SELENON RYR2 RYR1 CACNA1S
6 periodic paralysis 29.8 RYR1 CACNA1S
7 hypokalemic periodic paralysis, type 1 29.6 RYR1 CACNA1S
8 respiratory failure 29.2 SELENON RYR1 GAA
9 congenital myasthenic syndrome 29.0 SELENON RYR2 RYR1 CACNA1S
10 centronuclear myopathy 28.3 SELENON RYR1 NEB DES
11 hypertrophic cardiomyopathy 28.2 RYR2 GAA DES CACNA1S
12 atrial standstill 1 28.2 RYR2 MYOT GAA DES
13 myopathy 27.1 SELENON RYR2 RYR1 NEB MYOT GAA
14 neuromuscular disease 27.0 RYR2 RYR1 NEB MYOT GAA DES
15 muscular dystrophy 26.9 SELENON RYR2 RYR1 NEB MYOT GAA
16 cleidocranial dysplasia 12.3
17 congenital chloride diarrhea 12.0
18 cerebral creatine deficiency syndrome 11.4
19 creatine deficiency syndromes 11.3
20 cerebral creatine deficiency syndrome 2 11.2
21 cleidocranial dysplasia spectrum disorder 10.5
22 small cell cancer of the lung 10.3
23 lung cancer 10.3
24 scoliosis 10.3
25 hypotonia 10.3
26 malignant hyperthermia 1 10.2
27 dermatitis, atopic 10.2
28 pathologic nystagmus 10.2
29 chagas disease 10.2
30 fibrosarcoma 10.2
31 familial periodic paralysis 10.2 RYR1 CACNA1S
32 arrhythmogenic right ventricular dysplasia, familial, 2 10.1 RYR2 RYR1
33 greig cephalopolysyndactyly syndrome 10.1
34 teeth, supernumerary 10.1
35 autosomal recessive disease 10.1
36 dementia 10.1
37 diarrhea 10.1
38 root resorption 10.1
39 hypokalemia 10.1
40 intestinal obstruction 10.1
41 myopathy, congenital, with fiber-type disproportion 10.1 SELENON RYR1
42 capillary malformations, congenital 10.1 RYR2 RYR1
43 myopathy, myofibrillar, 2 10.1 SELENON MYOT
44 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 10.0 RYR2 RYR1
45 ptosis 10.0
46 nemaline myopathy 10.0
47 multicore disease 10.0
48 andersen cardiodysrhythmic periodic paralysis 10.0 RYR2 CACNA1S
49 timothy syndrome 10.0 RYR2 CACNA1S
50 diabetes insipidus, nephrogenic, autosomal 10.0

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:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
2 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
3 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
4 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
5 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
6 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
7 congenital hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001374
8 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
9 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
10 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001762
11 malignant hyperthermia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002047
12 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
13 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
14 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
15 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
16 pelvic girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003749
17 type 1 muscle fiber predominance 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0003803
18 central core regions in muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0030230
19 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
20 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
21 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
22 intrinsic hand muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008954
23 distal upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0008959
24 axial muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003327
25 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
26 hyporeflexia of upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0012391
27 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
28 bulbar signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002483
29 nemaline bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003798
30 knee dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004976
31 recurrent patellar dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005001
32 respiratory insufficiency due to muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0002747
33 elevated serum creatine kinase 58 31 very rare (1%) Very rare (<4-1%) HP:0003236
34 fetal akinesia sequence 58 31 very rare (1%) Very rare (<4-1%) HP:0001989
35 neonatal respiratory distress 58 31 very rare (1%) Very rare (<4-1%) HP:0002643
36 flexion contracture 31 HP:0001371
37 fever 31 HP:0001945
38 skeletal muscle atrophy 31 HP:0003202
39 abnormal levels of creatine kinase in blood 58 Occasional (29-5%)
40 rectus femoris muscle atrophy 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
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:

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CACNA1S DES GAA NEB RYR1 RYR2
2 homeostasis/metabolism MP:0005376 9.5 CACNA1S DES GAA NEB RYR1 RYR2
3 muscle MP:0005369 9.17 CACNA1S DES GAA NEB RYR1 RYR2

Drugs & Therapeutics for Central Core Disease of Muscle

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2 Respiratory System Agents Phase 1, Phase 2
3 Anti-Infective Agents Phase 1, Phase 2
4 Antidotes Phase 1, Phase 2
5 Antioxidants Phase 1, Phase 2
6 Antiviral Agents Phase 1, Phase 2
7 Expectorants Phase 1, Phase 2
8 N-monoacetylcystine Phase 1, Phase 2
9 Protective Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
2 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
3 Molecular Analysis of Neuromuscular Disease Recruiting NCT00272883

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 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:

40
Skeletal Muscle, Heart, Testes, Eye, Endothelial

Publications for Central Core Disease of Muscle

Articles related to Central Core Disease of Muscle:

(show top 50) (show all 424)
# Title Authors PMID Year
1
Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. 61 56 54 6
17538032 2008
2
A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. 61 6 56
11113224 2000
3
An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. 61 6 56
11063719 2000
4
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. 61 6 56
10097181 1999
5
A mutation in the human ryanodine receptor gene associated with central core disease. 61 6 56
8220422 1993
6
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. 56 6 61
8220423 1993
7
Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 61 54 56
19303294 2009
8
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene. 61 56 54
17190947 2006
9
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. 61 54 56
17033962 2006
10
Central core disease is due to RYR1 mutations in more than 90% of patients. 61 54 6
16621918 2006
11
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. 54 61 6
12566385 2003
12
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. 61 54 6
11741831 2001
13
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. 61 54 6
11709545 2001
14
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor. 6 54 61
11274444 2001
15
Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. 61 54 6
9497245 1998
16
The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. 54 61 6
8661021 1996
17
Clinical utility gene card for: Central core disease. 6 61
21989361 2012
18
Central Core Disease – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6 61
20301565 2007
19
The spectrum of pathology in central core disease. 56 61
12467748 2002
20
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. 56 61
12136074 2002
21
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. 56 61
12112081 2002
22
Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family. 56 61
10838116 2000
23
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance. 56 61
9829276 1998
24
Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. 61 6
7829078 1994
25
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. 61 56
8483915 1993
26
Refined genetic localization for central core disease. 61 56
8430700 1993
27
Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. 56 61
1889818 1991
28
Assignment of the gene for central core disease to chromosome 19. 61 56
2265831 1990
29
Central core disease. Study of a family with five affected generations. 56 61
7057203 1982
30
Central core disease and malignant hyperthermia syndrome. 61 56
7362206 1980
31
Central core disease: clinical and pathological evidence of progression within a family. 56 61
497805 1979
32
Malignant hyperthermia and central core disease in a child with congenital dislocating hips. 61 56
637752 1978
33
Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study. 61 56
130467 1975
34
Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child. 56 61
5418397 1970
35
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. 56 61
14280602 1965
36
Central core disease-an investigation of a rare muscle cell abnormality. 56 61
13696813 1961
37
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. 56
29298851 2018
38
Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. 56
23553484 2013
39
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. 56
22473935 2012
40
Clinical utility gene card for: Multi-minicore disease. 6
22009146 2012
41
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. 56
17376685 2007
42
Malignant hyperthermia and apparent heat stroke. 6
11448278 2001
43
Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. 6
9030597 1997
44
Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia. 6
8592342 1995
45
A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. 6
7586638 1995
46
Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. 6
7889656 1994
47
Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. 56
7515481 1994
48
Non-dystrophic, myogenic myopathies with onset in infancy or childhood. A review of some characteristic syndromes. 56
6760662 1982
49
Myopathy with multiple central cores. A case with hypersensitivity to pyrexia. 56
581399 1978
50
Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres. 56
4224150 1966

Variations for Central Core Disease of Muscle

ClinVar genetic disease variations for Central Core Disease of Muscle:

6 (show top 50) (show all 555) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RYR1 NM_000540.2(RYR1):c.208C>T (p.Gln70Ter)SNV Pathogenic 561100 rs1456276440 19:38933031-38933031 19:38442391-38442391
2 RYR1 NM_000540.2(RYR1):c.838C>T (p.Arg280Ter)SNV Pathogenic 620584 rs1278804520 19:38939032-38939032 19:38448392-38448392
3 RYR1 NM_000540.2(RYR1):c.8159C>A (p.Ser2720Ter)SNV Pathogenic 634550 rs1568510406 19:38995479-38995479 19:38504839-38504839
4 RYR1 NM_000540.2(RYR1):c.14667C>A (p.Tyr4889Ter)SNV Pathogenic 647148 19:39075603-39075603 19:38584963-38584963
5 RYR1 NM_001042723.2(RYR1):c.12625_12633del (p.Arg4209_Phe4211del)deletion Pathogenic 12981 rs118192165 19:39055614-39055622 19:38564974-38564982
6 RYR1 NM_000540.2(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)deletion Pathogenic 12986 rs118192169 19:39071085-39071105 19:38580445-38580465
7 RYR1 NM_001042723.2(RYR1):c.14746_14747delinsAC (p.Phe4916Thr)indel Pathogenic 12995 rs118192171 19:39075697-39075698 19:38585057-38585058
8 RYR1 NM_001042723.2(RYR1):c.12998_13017del (p.Ala4333fs)deletion Pathogenic 12996 rs193922856 19:39055982-39056001 19:38565342-38565361
9 RYR1 NM_000540.2(RYR1):c.1205T>C (p.Met402Thr)SNV Pathogenic 42099 rs118192117 19:38942486-38942486 19:38451846-38451846
10 RYR1 NM_000540.2(RYR1):c.7635G>C (p.Glu2545Asp)SNV Pathogenic 65933 rs193922820 19:38993167-38993167 19:38502527-38502527
11 RYR1 NM_000540.2(RYR1):c.13900G>A (p.Glu4634Lys)SNV Pathogenic 65934 rs118192133 19:39062812-39062812 19:38572172-38572172
12 RYR1 NM_000540.2(RYR1):c.1534G>A (p.Glu512Lys)SNV Pathogenic 65935 rs118192119 19:38945968-38945968 19:38455328-38455328
13 undetermined variant Pathogenic 65936
14 NP_000531.2:p.F4860deldeletion Pathogenic 65937
15 NP_000531.2:p.F4906deldeletion Pathogenic 65938
16 RYR1 NM_000540.2(RYR1):c.14762T>C (p.Phe4921Ser)SNV Pathogenic 65939 rs118192156 19:39075698-39075698 19:38585058-38585058
17 RYR1 NM_000540.2(RYR1):c.644G>A (p.Gly215Glu)SNV Pathogenic 65940 rs118192115 19:38937124-38937124 19:38446484-38446484
18 RYR1 NM_000540.2(RYR1):c.13913G>A (p.Gly4638Asp)SNV Pathogenic 65941 rs118192135 19:39062825-39062825 19:38572185-38572185
19 undetermined variant Pathogenic 65942
20 undetermined variant Pathogenic 65944
21 RYR1 NM_000540.2(RYR1):c.14671G>C (p.Gly4891Arg)SNV Pathogenic 65945 rs118192149 19:39075607-39075607 19:38584967-38584967
22 NP_000531.2:p.G4893Rprotein only Pathogenic 65946
23 RYR1 NM_000540.2(RYR1):c.14690G>T (p.Gly4897Val)SNV Pathogenic 65947 rs118192148 19:39075626-39075626 19:38584986-38584986
24 RYR1 NM_000540.2(RYR1):c.14696G>A (p.Gly4899Glu)SNV Pathogenic 65948 rs118192183 19:39075632-39075632 19:38584992-38584992
25 undetermined variant Pathogenic 65949
26 RYR1 NM_000540.2(RYR1):c.13952A>C (p.His4651Pro)SNV Pathogenic 65951 rs118192139 19:39062864-39062864 19:38572224-38572224
27 NP_000531.2:p.4894Qundetermined variant Pathogenic 65922
28 RYR1 NM_000540.2(RYR1):c.12986C>A (p.Ala4329Asp)SNV Pathogenic 65924 rs118192129 19:39055960-39055960 19:38565320-38565320
29 RYR1 NM_000540.2(RYR1):c.14537C>T (p.Ala4846Val)SNV Pathogenic 65925 rs118192143 19:39071035-39071035 19:38580395-38580395
30 RYR1 NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr)SNV Pathogenic 65953 rs118192123 19:38991280-38991280 19:38500640-38500640
31 p.L4796Cprotein only Pathogenic 65963
32 RYR1 NM_000540.2(RYR1):c.14440C>T (p.Leu4814Phe)SNV Pathogenic 65964 rs118192142 19:39070697-39070697 19:38580057-38580057
33 p.M2434Kprotein only Pathogenic 65966
34 RYR1 NM_000540.2(RYR1):c.6847A>C (p.Asn2283His)SNV Pathogenic 65968 rs118192121 19:38987550-38987550 19:38496910-38496910
35 RYR1 NM_000540.2(RYR1):c.14572A>G (p.Asn4858Asp)SNV Pathogenic 65969 rs118192144 19:39071070-39071070 19:38580430-38580430
36 undetermined variant Pathogenic 65970
37 undetermined variant Pathogenic 65973
38 undetermined variant Pathogenic 65974
39 undetermined variant Pathogenic 65975
40 undetermined variant Pathogenic 65978
41 RYR1 NM_000540.2(RYR1):c.10100A>G (p.Lys3367Arg)SNV Pathogenic 65956 rs118192126 19:39009935-39009935 19:38519295-38519295
42 RYR1 NM_000540.2(RYR1):c.14170A>C (p.Lys4724Gln)SNV Pathogenic 65957 rs118192141 19:39066599-39066599 19:38575959-38575959
43 RYR1 NM_000540.2(RYR1):c.10817T>C (p.Leu3606Pro)SNV Pathogenic 65958 rs118192127 19:39018417-39018417 19:38527777-38527777
44 undetermined variant Pathogenic 65972
45 NP_000531.2:p.L4647deldeletion Pathogenic 65960
46 RYR1 NM_000540.2(RYR1):c.14473C>T (p.Arg4825Cys)SNV Pathogenic 65985 rs118192180 19:39070730-39070730 19:38580090-38580090
47 RYR1 NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys)SNV Pathogenic 65986 rs118192181 19:39071079-39071079 19:38580439-38580439
48 RYR1 NM_000540.2(RYR1):c.14678G>C (p.Arg4893Pro)SNV Pathogenic 65987 rs118192151 19:39075614-39075614 19:38584974-38584974
49 RYR1 NM_000540.2(RYR1):c.14677C>T (p.Arg4893Trp)SNV Pathogenic 65989 rs118192150 19:39075613-39075613 19:38584973-38584973
50 RYR1 NM_000540.2(RYR1):c.14740A>G (p.Arg4914Gly)SNV Pathogenic 65990 rs118192184 19:39075676-39075676 19:38585036-38585036

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

73 (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

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:

36
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 RYR2 RYR1 CACNA1S
2
Show member pathways
12.14 RYR2 RYR1 CACNA1S
3
Show member pathways
12.09 RYR2 RYR1 CACNA1S
4
Show member pathways
11.91 RYR2 RYR1 CACNA1S
5
Show member pathways
11.85 RYR2 DES CACNA1S
6
Show member pathways
11.75 RYR2 RYR1 NEB DES CACNA1S
7
Show member pathways
11.73 RYR2 DES CACNA1S
8 11.65 RYR2 RYR1 CACNA1S
9 11.37 NEB DES
10 10.82 RYR2 RYR1 CACNA1S
11 10.37 RYR2 RYR1
12 10.23 RYR1 CACNA1S

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 RYR2 NEB
2 sarcoplasmic reticulum GO:0016529 9.48 RYR2 RYR1
3 T-tubule GO:0030315 9.46 RYR1 CACNA1S
4 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR2 RYR1
5 smooth endoplasmic reticulum GO:0005790 9.4 RYR2 RYR1
6 calcium channel complex GO:0034704 9.37 RYR2 RYR1
7 I band GO:0031674 9.32 RYR1 CACNA1S
8 contractile fiber GO:0043292 9.26 NEB DES
9 sarcolemma GO:0042383 9.26 RYR2 RYR1 MYOT DES
10 junctional sarcoplasmic reticulum membrane GO:0014701 9.16 RYR2 RYR1
11 Z disc GO:0030018 9.02 RYR2 RYR1 NEB MYOT DES

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

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 9.54 RYR2 RYR1 CACNA1S
2 ion channel activity GO:0005216 9.5 RYR2 RYR1 CACNA1S
3 structural constituent of muscle GO:0008307 9.43 NEB MYOT
4 voltage-gated calcium channel activity GO:0005245 9.4 RYR1 CACNA1S
5 calcium channel activity GO:0005262 9.33 RYR2 RYR1 CACNA1S
6 calcium-release channel activity GO:0015278 9.26 RYR2 RYR1
7 calcium-induced calcium release activity GO:0048763 8.96 RYR2 RYR1
8 ryanodine-sensitive calcium-release channel activity GO:0005219 8.62 RYR2 RYR1

Sources for Central Core Disease of Muscle

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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