MCID: CTC001
MIFTS: 55

Catecholaminergic Polymorphic Ventricular Tachycardia malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Sources:
65UMLS, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 47Novoseek, 24GTR, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Catecholaminergic Polymorphic Ventricular Tachycardia:

Name: Catecholaminergic Polymorphic Ventricular Tachycardia 21 45 22 23 51
Catecholamine-Induced Polymorphic Ventricular Tachycardia 21 45 22 23
Familial Polymorphic Ventricular Tachycardia 21 45 22 23
Cpvt 21 23 51
Ventricular Tachycardia, Catecholaminergic Polymorphic 47 24
Bidirectional Tachycardia Induced by Catecholamine 45 51
Stress-Induced Polymorphic Ventricular Tachycardia 45 65
Double Tachycardia Induced by Catecholamines 45 51
Malignant Paroxysmal Ventricular Tachycardia 45 51
Multifocal Ventricular Premature Beats 45 51
 
Fpvt 21 23
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 65
Bidirectional Tachycardia Induced by Catecholamines 23
Polymorphic Catecholergic Ventricular Tachycardia 45
Ventricular Tachycardia, Familial Polymorphic 47
Multifocal Premature Ventricular Beats 65
Familial Ventricular Tachycardia 65
Syncopal Paroxysmal Tachycardia 45
Multifocal Pvcs 65
Cvpt 45

Characteristics:

Orphanet epidemiological data:

51
catecholaminergic polymorphic ventricular tachycardia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: any age

Classifications:



External Ids:

Orphanet51 3286
ICD10 via Orphanet28 I47.2
UMLS65 C1631597, C0340485, C0264903 C1735340, C2677794, more

Summaries for Catecholaminergic Polymorphic Ventricular Tachycardia

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NIH Rare Diseases:45 Catecholaminergic polymorphic ventricular tachycardia (cpvt) is a genetic disorder that causes an abnormally fast and irregular heart rhythm in response to physical activity or emotional stress. signs and symptoms include light-headedness, dizziness, and fainting. symptoms most often develop between 7 to 9 years of age.  if untreated cpvt can cause a heart attack and death. cpvt is caused by mutations in the ryr2 or casq2 genes. when a ryr2 gene mutation is involved, the condition is passed through families in an autosomal dominant fashion. when casq2 gene mutations are involved, the condition is inherited in an autosomal recessive fashion. in some cases the underlying cause can not be determined. beta blockers are used to treat cpvt.  an implantable cardioverter defibrillator (icd) may also be needed.  last updated: 1/25/2013

MalaCards based summary: Catecholaminergic Polymorphic Ventricular Tachycardia, also known as catecholamine-induced polymorphic ventricular tachycardia, is related to ventricular tachycardia, catecholaminergic polymorphic, 1 and calm1-related catecholaminergic polymorphic ventricular tachycardia, and has symptoms including vertigo, sudden cardiac death and cardiac rhythm disorder/arrhythmia. An important gene associated with Catecholaminergic Polymorphic Ventricular Tachycardia is RYR2 (Ryanodine Receptor 2), and among its related pathways are Endothelin and G13 Signaling Pathway. Affiliated tissues include heart, breast and t cells, and related mouse phenotypes are cardiovascular system and muscle.

Genetics Home Reference:23 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia. Episodes of ventricular tachycardia can cause light-headedness, dizziness, and fainting (syncope). In people with CPVT, these episodes typically begin in childhood.

Wikipedia:68 Catecholaminergic polymorphic ventricular tachycardia (CPVT), also called familial polymorphic... more...

GeneReviews summary for NBK1289

Related Diseases for Catecholaminergic Polymorphic Ventricular Tachycardia

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Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia Casq2-Related Catecholaminergic Polymorphic Ventricular Tachycardia
Ryr2-Related Catecholaminergic Polymorphic Ventricular Tachycardia Trdn-Related Catecholaminergic Polymorphic Ventricular Tachycardia

Diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 192)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 130.8ANK2, CALM1, DSG2, RYR2
2calm1-related catecholaminergic polymorphic ventricular tachycardia12.8
3casq2-related catecholaminergic polymorphic ventricular tachycardia12.8
4ryr2-related catecholaminergic polymorphic ventricular tachycardia12.8
5trdn-related catecholaminergic polymorphic ventricular tachycardia12.8
6ventricular tachycardia, catecholaminergic polymorphic, 411.9
7cardiac arrhythmia, ankyrin-b-related10.8
8breast cancer10.5
9hepatitis10.5
10systemic lupus erythematosus10.5
11gastric cancer10.5
12esophagitis10.5
13prostatitis10.5
14neuropathy10.5
15lupus erythematosus10.5
16phlegmonous dacryocystitis10.4CALM1, CALM2
17prostate cancer10.4
18obesity10.4
19renal cell carcinoma10.4
20arthritis10.4
21diabetic neuropathy10.4
22myeloma10.4
23keratosis10.4
24adenocarcinoma10.4
25myopathy10.4
26pancreatitis10.4
27pneumonia10.4
28adenoma10.4
29thyroiditis10.4
30cardiomyopathy10.4
31hypoxia10.4
32endotheliitis10.4
33laryngotracheitis10.4CALM1, CALM2
34pleural empyema10.4CALM1, CALM2
35bacterial meningitis10.3CALM1, CALM2
36pseudohypoaldosteronism, type iic10.3CALM1, CALM2
37leukocoria10.3CALM1, CALM2
38ureteral lymphoma10.3CALM1, CALM2
39exostosis10.3CALM1, CALM2
40prostate lymphoma10.3KCNJ2, RYR1
41microphthalmia10.3
42endocardium disease10.3RYR2, TRDN
43myasthenia gravis10.2RYR1, RYR2
44schizophrenia10.2
45rheumatoid arthritis10.2
46neuroblastoma10.2
47hiv-110.2
48chediak-higashi syndrome10.2
49hepatocellular carcinoma10.2
50osteoporosis10.2

Graphical network of the top 20 diseases related to Catecholaminergic Polymorphic Ventricular Tachycardia:



Diseases related to catecholaminergic polymorphic ventricular tachycardia

Symptoms for Catecholaminergic Polymorphic Ventricular Tachycardia

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Symptoms:

 51
  • cardiac rhythm disorder/arrhythmia
  • dizziness
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest

HPO human phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Description Frequency HPO Source Accession
1 vertigo typical (50%) HP:0002321
2 sudden cardiac death occasional (7.5%) HP:0001645

Drugs & Therapeutics for Catecholaminergic Polymorphic Ventricular Tachycardia

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Drugs for Catecholaminergic Polymorphic Ventricular Tachycardia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Sodium Channel Blockers1180
2Diuretics, Potassium Sparing1445
3Anti-Arrhythmia Agents2371

Interventional clinical trials:

idNameStatusNCT IDPhase
1Flecainide for Catecholaminergic Polymorphic Ventricular TachycardiaCompletedNCT01117454
2Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac ArrhythmiasEnrolling by invitationNCT02413450

Search NIH Clinical Center for Catecholaminergic Polymorphic Ventricular Tachycardia

Genetic Tests for Catecholaminergic Polymorphic Ventricular Tachycardia

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Genetic tests related to Catecholaminergic Polymorphic Ventricular Tachycardia:

id Genetic test Affiliating Genes
1 Catecholaminergic Polymorphic Ventricular Tachycardia22 TRDN

Anatomical Context for Catecholaminergic Polymorphic Ventricular Tachycardia

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MalaCards organs/tissues related to Catecholaminergic Polymorphic Ventricular Tachycardia:

33
Heart, Breast, T cells, Liver, Bone, Prostate, Skin

Animal Models for Catecholaminergic Polymorphic Ventricular Tachycardia or affiliated genes

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MGI Mouse Phenotypes related to Catecholaminergic Polymorphic Ventricular Tachycardia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053856.8ASPH, CALR, CASQ2, FKBP1B, KCNH2, KCNJ2
2MP:00053696.2ASPH, CALR, CASQ2, FKBP1B, KCNH2, KCNJ2

Publications for Catecholaminergic Polymorphic Ventricular Tachycardia

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Articles related to Catecholaminergic Polymorphic Ventricular Tachycardia:

(show top 50)    (show all 205)
idTitleAuthorsYear
1
Association between polymorphisms in AXIN1 gene and atrial septal defect. (25355064)
2014
2
Relationship between EGFR mutations and clinicopathological features of lung adenocarcinomas diagnosed via small biopsies. (24922693)
2014
3
Obstructive sleep apnea and hypertension: an update. (24379177)
2014
4
The difficult diagnosis of isolated cardiac sarcoidosis: usefulness of an integrated MRI and PET approach. (23838000)
2014
5
A BRISC-SHMT complex deubiquitinates IFNAR1 and regulates interferon responses. (24075985)
2013
6
Disseminated toxoplasmosis presenting as septic shock five weeks after renal transplantation. (23279826)
2013
7
Distinction between asymptomatic monoclonal B-cell lymphocytosis with cyclin D1 overexpression and mantle cell lymphoma: from molecular profiling to flow cytometry. (24352646)
2013
8
Histone acetyltransferase 1 promotes homologous recombination in DNA repair by facilitating histone turnover. (23653357)
2013
9
Chronic rhinosinusitis increased the risk of chronic periodontitis: a population-based matched-cohort study. (23666605)
2013
10
Ectopic pleomorphic adenoma. (22536563)
2012
11
Gross hemoglobinuria and oliguria are common transient complications of sclerotherapy for venous malformations: review of 475 procedures. (22915413)
2012
12
Cascade Screening for Familial Hypercholesterolemia (FH). (21633520)
2011
13
MicroRNA miR-196a controls melanoma-associated genes by regulating HOX-C8 expression. (21077158)
2011
14
Rotavirus nonstructural protein 1 antagonizes innate immune response by interacting with retinoic acid inducible gene I. (22152002)
2011
15
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. (19383783)
2009
16
Aesthetic full-perioral reconstruction of burn scar by using a bilateral-pedicled expanded forehead flap. (19801915)
2009
17
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (19060911)
2009
18
Staging and survival for sinus cancer in the pediatric population. (19720405)
2009
19
Fatigue and quality of life in pediatric multiple sclerosis. (19965517)
2009
20
Acid-sensitive channel inhibition prevents fetal alcohol spectrum disorders cerebellar Purkinje cell loss. (18509098)
2008
21
Biochemical and immunological laboratory findings in Kawasaki disease]. (18260330)
2008
22
Identification of CIITA regulated genetic module dedicated for antigen presentation. (18437201)
2008
23
RUNX genes in development and cancer: regulation of viral gene expression and the discovery of RUNX family genes. (18037406)
2008
24
Breast cancer incidence in a cohort of women with benign breast disease from a multiethnic, primary health care population. (17319851)
2007
25
Lower-limb dominance as a possible etiologic factor in noncontact anterior cruciate ligament tears. (17313288)
2007
26
Calcitriol as a chemopreventive and therapeutic agent in prostate cancer: role of anti-inflammatory activity. (18290727)
2007
27
Selective inhibition of MEK1/2 reveals a differential requirement for ERK1/2 signalling in the regulation of HIF-1 in response to hypoxia and IGF-1. (17213817)
2007
28
Oxidized LDL specifically promotes the initiation of monocyte invasion during transendothelial migration with upregulated PECAM-1 and downregulated VE-cadherin on endothelial junctions. (17194459)
2007
29
Mutations of the transcription factor PU.1 are not associated with acute lymphoblastic leukaemia. (16735999)
2006
30
Excessive weight gain during pregnancy increases carcinogen-induced mammary tumorigenesis in Sprague-Dawley and lean and obese Zucker rats. (16549464)
2006
31
Identification of the nuclear localization motif in the ETV6 (TEL) protein. (16737910)
2006
32
Down-regulation of human NDR gene in megakaryocytic differentiation of erythroleukemia K562 cells. (14730214)
2004
33
Ocular complications in newly diagnosed borderline lepromatous and lepromatous leprosy patients: baseline profile of the Indian cohort. (12446359)
2002
34
Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia. (11872604)
2002
35
Apoptosis control in syncytia induced by the HIV type 1-envelope glycoprotein complex: role of mitochondria and caspases. (11034598)
2000
36
A novel t(Y;11) translocation with MLL gene rearrangement in a case of acute myelomonocytic leukemia (AML-M4) (10086743)
1999
37
Regulation of differentiation by HBP1, a target of the retinoblastoma protein. (9671483)
1998
38
Functional interactions between neuronal AT1 and AT2 receptors. (9112419)
1997
39
Pulmonary sporotrichosis with hyphae in a human immunodeficiency virus-infected patient. A case report. (9100791)
1997
40
Inhibition of the multicatalytic proteinase (proteasome) by 4-hydroxy-2-nonenal cross-linked protein. (9094417)
1997
41
bcr gene rearrangement analysis in myeloproliferative disorders other than chronic myelogenous leukemia. (8818385)
1996
42
Assignment of the 49-kDa (PRIM1) and 58-kDa (PRIM2A and PRIM2B) subunit genes of the human DNA primase to chromosome bands 1q44 and 6p11.1-p12. (8530050)
1995
43
Risk factors assessment for T. b. rhodesiense sleeping sickness acquisition in S.E. Uganda. A case-control study. (7944647)
1994
44
Molecular cloning of a novel mRNA (neuronatin) that is highly expressed in neonatal mammalian brain. (8024565)
1994
45
Serum levels of steroid sulfatase protein in gynecologic carcinomas. (8070131)
1994
46
FGFRI and PLAT genes and DNA amplification at 8p12 in breast and ovarian cancers. (7692948)
1993
47
Choriocarcinoma and invasive mole. (6250234)
1980
48
Pancreatic cyst; an unusual cause of hypersplenism. (12996227)
1952
49
50

Variations for Catecholaminergic Polymorphic Ventricular Tachycardia

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Clinvar genetic disease variations for Catecholaminergic Polymorphic Ventricular Tachycardia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)single nucleotide variantPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696
3DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
4RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
5RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)single nucleotide variantLikely pathogenic, Pathogenicrs794728756GRCh38Chr 1, 237640983: 237640983
6CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
7CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
8RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665

Expression for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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Search GEO for disease gene expression data for Catecholaminergic Polymorphic Ventricular Tachycardia.

Pathways for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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Pathways related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idSuper pathwaysScoreTop Affiliating Genes
19.5CALM1, CALM2, CALM3
29.5CALM1, CALM2, CALM3
3
Show member pathways
9.5CALM1, CALM2, CALM3
49.5CALM1, CALM2, CALM3
59.5CALM1, CALM2, CALM3
69.5CALM1, CALM2, CALM3
79.5CALM1, CALM2, CALM3
8
Show member pathways
9.5CALM1, CALM2, CALM3
99.5CALM1, CALM2, CALM3
109.5CALM1, CALM2, CALM3
11
Show member pathways
9.5CALM1, CALM2, CALM3
12
Show member pathways
9.5CALM1, CALM2, CALM3
139.5CALM1, CALM2, CALM3
149.5CALM1, CALM2, CALM3
159.5CALM1, CALM2, CALM3
16
Show member pathways
9.5CALM1, CALM2, CALM3
179.5CALM1, CALM2, CALM3
189.5CALM1, CALM2, CALM3
199.5CALM1, CALM2, CALM3
20
Show member pathways
9.5CALM1, CALM2, CALM3
21
Show member pathways
9.5CALM1, CALM2, CALM3
229.5CALM1, CALM2, CALM3
23
Show member pathways
9.5CALM1, CALM2, CALM3
249.5CALM1, CALM2, CALM3
259.5CALM1, CALM2, CALM3
269.5CALM1, CALM2, CALM3
279.5CALM1, CALM2, CALM3
289.5CALM1, CALM2, CALM3
29
Show member pathways
9.5CALM1, CALM2, CALM3
309.5CALM1, CALM2, CALM3
319.5CALM1, CALM2, CALM3
32
Show member pathways
9.5CALM1, CALM2, CALM3
33
Show member pathways
9.2CALM1, CALM2, CALM3, RYR2
34
Show member pathways
9.2CALM1, CALM2, CALM3, RYR2
35
Show member pathways
9.2CALM1, CALM2, CALM3, RYR2
36
Show member pathways
9.1CALM1, CALM2, CALM3, KCNJ2
379.1CALM1, CALM2, CALM3, KCNJ2
38
Show member pathways
9.1CALM1, CALM2, CALM3, RYR1
39
Show member pathways
8.9CALM1, CALM2, CALM3, RYR1, RYR2
408.9CALM1, CALM2, CALM3, RYR1, RYR2
41
Show member pathways
8.8CALM1, CALM2, CALM3, CALR
42
Show member pathways
8.6CALM1, CALM2, CALM3, KCNH2, KCNJ2
438.6CALM1, CALM2, CALM3, KCNH2, KCNJ2
44
Show member pathways
8.5CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
45
Show member pathways
8.5CALM1, CALM2, CALM3, KCNJ2, RYR1, RYR2
468.2ANK2, CASQ2, FKBP1B, KCNH2, KCNJ2, RYR2
47
Show member pathways
8.0CALM1, CALM2, CALM3, CALR, CASQ2, RYR1
48
Show member pathways
7.3ASPH, CALM1, CALM2, CALM3, FKBP1B, RYR1
49
Show member pathways
7.3ASPH, CALM1, CALM2, CALM3, FKBP1B, RYR1
50
Show member pathways
6.4ASPH, CALM1, CALM2, CALM3, FKBP1B, KCNH2

GO Terms for genes affiliated with Catecholaminergic Polymorphic Ventricular Tachycardia

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Cellular components related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sarcoplasmic reticulum membraneGO:003301710.2CASQ2, RYR1
2cellGO:000562310.2RYR1, RYR2
3T-tubuleGO:003031510.1ANK2, RYR1
4vesicleGO:00319829.8CALM1, CALM2, CALM3
5intercalated discGO:00147049.7ANK2, DSG2, KCNJ2
6plasma membraneGO:00058868.5CALM1, CALM3, DSG2, KCNH2, KCNJ2

Biological processes related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1regulation of cardiac muscle contraction by calcium ion signalingGO:001088210.5ANK2, RYR2
2regulation of cytosolic calcium ion concentrationGO:005148010.4RYR1, RYR2
3positive regulation of sequestering of calcium ionGO:005128410.4FKBP1B, RYR2
4positive regulation of protein autophosphorylationGO:003195410.4CALM1, CALM2
5regulation of cardiac muscle cell contractionGO:008600410.3ANK2, KCNJ2
6cellular response to caffeineGO:007131310.3CASQ2, RYR2
7positive regulation of potassium ion transmembrane transportGO:190138110.3KCNH2, KCNJ2
8regulation of membrane repolarizationGO:006030610.3KCNH2, KCNJ2
9sarcoplasmic reticulum calcium ion transportGO:007029610.2ANK2, RYR2
10regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.2ANK2, KCNH2
11release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.2RYR1, RYR2, TRDN
12regulation of heart rateGO:000202710.1CASQ2, FKBP1B
13ventricular cardiac muscle cell action potentialGO:008600510.0ANK2, KCNH2, RYR2
14positive regulation of phosphoprotein phosphatase activityGO:003251610.0CALM1, CALM2, CALM3
15regulation of high voltage-gated calcium channel activityGO:190184110.0CALM1, CALM2, CALM3
16protein maturation by protein foldingGO:00224179.9CALR, FKBP1B
17activation of phospholipase C activityGO:00072029.9CALM1, CALM2, CALM3
18rhodopsin mediated signaling pathwayGO:00160569.9CALM1, CALM2, CALM3
19positive regulation of protein dephosphorylationGO:00353079.9CALM1, CALM2, CALM3
20negative regulation of peptidyl-threonine phosphorylationGO:00108019.9CALM1, CALM2, CALM3
21positive regulation of peptidyl-threonine phosphorylationGO:00108009.9CALM1, CALM2, CALM3
22positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.9CALM1, CALM2, CALM3
23platelet degranulationGO:00025769.9CALM1, CALM2, CALM3
24inositol phosphate metabolic processGO:00436479.9CALM1, CALM2, CALM3
25nitric oxide metabolic processGO:00462099.9CALM1, CALM2, CALM3
26response to calcium ionGO:00515929.9CALM1, CALM2, CALM3
27glycogen catabolic processGO:00059809.8CALM1, CALM2, CALM3
28release of sequestered calcium ion into cytosolGO:00512099.8FKBP1B, RYR1, RYR2
29platelet activationGO:00301689.8CALM1, CALM2, CALM3
30regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.8CALM1, CALM2, CALM3
31phosphorylationGO:00163109.7CALM1, CALM2, CALM3
32regulation of cytokinesisGO:00324659.7CALM1, CALM2, CALM3
33phototransduction, visible lightGO:00076039.7CALM1, CALM2, CALM3
34MAPK cascadeGO:00001659.7CALM1, CALM2, CALM3
35membrane organizationGO:00610249.7CALM1, CALM2, CALM3
36calcium-mediated signalingGO:00197229.7CALM1, CALM2, RYR2
37regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108819.7ANK2, CASQ2, FKBP1B
38regulation of heart rate by cardiac conductionGO:00860919.6ANK2, DSG2, KCNH2
39synaptic transmissionGO:00072689.6CALM1, CALM2, CALM3
40negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.6CALM1, CALM2, CALM3, CASQ2
41positive regulation of protein serine/threonine kinase activityGO:00719029.6CALM1, CALM2, CALM3
42regulation of cell communication by electrical couplingGO:00106499.6ASPH, CASQ2, TRDN
43Fc-epsilon receptor signaling pathwayGO:00380959.5CALM1, CALM2, CALM3
44glucose metabolic processGO:00060069.5CALM1, CALM2, CALM3
45regulation of cardiac conductionGO:19037799.4FKBP1B, RYR2, TRDN
46regulation of cardiac muscle contractionGO:00551179.3ANK2, CALM1, CALM2, CALM3, RYR2
47axon guidanceGO:00074119.2ANK2, CALM1, CALM2, CALM3
48response to amphetamineGO:00019759.2CALM1, CALM2, CALM3
49muscle contractionGO:00069368.5ASPH, CALM1, CALM2, CALM3, RYR1, TRDN
50regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108808.5ASPH, CALM1, CALM2, CALM3, CASQ2, TRDN

Molecular functions related to Catecholaminergic Polymorphic Ventricular Tachycardia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1calcium channel activityGO:000526210.2RYR1, RYR2
2ryanodine-sensitive calcium-release channel activityGO:000521910.0FKBP1B, RYR1
3type 3 metabotropic glutamate receptor bindingGO:00318009.6CALM1, CALM2
4Ras guanyl-nucleotide exchange factor activityGO:00050889.5CALM1, CALM2, CALM3
5calcium-dependent protein bindingGO:00483069.4CALM1, CALM2, CALM3

Sources for Catecholaminergic Polymorphic Ventricular Tachycardia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet