MCID: VNT013
MIFTS: 35

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Aliases & Descriptions for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 49 11
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 67
Ventricular Tachycardia Catecholaminergic Polymorphic 1 67
Stress-Induced Polymorphic Ventricular Tachycardia 67
Malignant Paroxysmal Ventricular Tachycardia 67
Double Tachycardia Induced by Catecholamines 67
Multifocal Ventricular Premature Beats 67
 
Paroxysmal Ventricular Fibrillation 67
Syncopal Paroxysmal Tachycardia 67
Bidirectional Tachycardia 67
Syncopal Tachyarythmia 67
Vtsip 67
Cpvt1 67


Classifications:



External Ids:

OMIM49 604772
MedGen34 C1631597
MeSH36 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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OMIM:49 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized... (604772) more...

MalaCards based summary: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, also known as ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy, is related to bidirectional tachycardia and paroxysmal ventricular fibrillation, and has symptoms including atrial fibrillation, autosomal dominant inheritance and seizures. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 is RYR2 (Ryanodine Receptor 2 (Cardiac)), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Hypertrophic cardiomyopathy (HCM). Affiliated tissues include heart.

UniProtKB/Swiss-Prot:67 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy: An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress.

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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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 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1bidirectional tachycardia11.0
2paroxysmal ventricular fibrillation10.8
3catecholaminergic polymorphic ventricular tachycardia10.5
4ventricular fibrillation, familial, 110.4
5ventricular fibrillation, paroxysmal familial, 210.4
6syncope10.4
7idiopathic ventricular fibrillation, not brugada type10.2
8ventricular tachycardia, catecholaminergic polymorphic, 210.2
9ventricular tachycardia, catecholaminergic polymorphic, 410.2
10pulmonary embolism10.2
11left-sided gallbladder10.0LMNA, RYR2
12lissencephaly10.0ANK2, RYR2
13osteochondritis of tarsal/metatarsal bone9.9ANK2, CALM1
14familial partial lipodystrophy9.9DSG2, RYR2
15long qt syndrome 19.9ANK2, CALM1
16uvulitis9.8CALM1, RYR2
17atrial heart septal defect9.8ANK2, RYR2
18familial isolated arrhythmogenic ventricular dysplasia, left dominant form9.8DSG2, LMNA, RYR2
19right temporal lobar atrophy9.8DSG2, LMNA, RYR2
20mitf-related melanoma and renal cell carcinoma predisposition syndrome9.8DSG2, LMNA, RYR2
21invasive bladder transitional cell carcinoma9.8DSG2, LMNA, RYR2
22muscular dystrophy9.8DSG2, LMNA, RYR2
23congenital hemolytic anemia9.8DSG2, LMNA, RYR2
24cardiomyopathy with or without skeletal myopathy9.7DSG2, LMNA, RYR2
25lower urinary tract calculus9.7ANK2, CALM1, RYR2
26ventricular tachycardia, catecholaminergic polymorphic, 19.3ANK2, CALM1, DSG2, LMNA, RYR2
27caveolinopathies9.3ANK2, CALM1, DSG2, LMNA, RYR2

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:



Diseases related to ventricular tachycardia, catecholaminergic polymorphic, 1

Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Symptoms by clinical synopsis from OMIM:

604772

Clinical features from OMIM:

604772

HPO human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

(show all 6)
id Description Frequency HPO Source Accession
1 atrial fibrillation rare (5%) HP:0005110
2 autosomal dominant inheritance HP:0000006
3 seizures HP:0001250
4 syncope HP:0001279
5 sudden death HP:0001699
6 ventricular tachycardia HP:0004756

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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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 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

33
Heart

Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 or affiliated genes

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Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

67 (show all 39)
id Symbol AA change Variation ID SNP ID
1RYR2p.Leu433ProVAR_011395
2RYR2p.Ser2246LeuVAR_011396
3RYR2p.Pro2328SerVAR_011397
4RYR2p.Asn2386IleVAR_011398
5RYR2p.Arg2474SerVAR_011399
6RYR2p.Asn4104LysVAR_011400
7RYR2p.Gln4201ArgVAR_011401
8RYR2p.Arg4497CysVAR_011402
9RYR2p.Val4653PheVAR_011403
10RYR2p.Val2306IleVAR_023694
11RYR2p.Pro4902LeuVAR_023695
12RYR2p.Arg4959GlnVAR_023696
13RYR2p.Pro164SerVAR_044086
14RYR2p.Arg176GlnVAR_044087
15RYR2p.Arg414LeuVAR_044088
16RYR2p.Ile419PheVAR_044089
17RYR2p.Arg420TrpVAR_044090rs190140598
18RYR2p.Glu2311AspVAR_044092
19RYR2p.Ala2387ProVAR_044093
20RYR2p.Tyr2392CysVAR_044094
21RYR2p.Ala2403ThrVAR_044095
22RYR2p.Thr2504MetVAR_044096
23RYR2p.Leu3778PheVAR_044097
24RYR2p.Gly3946SerVAR_044098
25RYR2p.Asn4097SerVAR_044099
26RYR2p.Glu4146LysVAR_044100
27RYR2p.Thr4158ProVAR_044101
28RYR2p.Phe4499CysVAR_044102
29RYR2p.Met4504IleVAR_044103
30RYR2p.Ala4510ThrVAR_044104
31RYR2p.Ala4607ProVAR_044105
32RYR2p.Gly4671ArgVAR_044106
33RYR2p.Val4771IleVAR_044107
34RYR2p.Ile4848ValVAR_044108
35RYR2p.Ala4860GlyVAR_044109
36RYR2p.Ile4867MetVAR_044110
37RYR2p.Val4880AlaVAR_044111
38RYR2p.Asn4895AspVAR_044112
39RYR2p.Glu4950LysVAR_044113

Clinvar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:

5 (show all 23)
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.7422G> C (p.Arg2474Ser)single nucleotide variantPathogenicrs121918598GRCh37Chr 1, 237811823: 237811823
3RYR2NM_001035.2(RYR2): c.12312C> G (p.Asn4104Lys)single nucleotide variantPathogenicrs121918599GRCh37Chr 1, 237947324: 237947324
4RYR2NM_001035.2(RYR2): c.13489C> T (p.Arg4497Cys)single nucleotide variantPathogenicrs121918600GRCh37Chr 1, 237954741: 237954741
5RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696
6RYR2NM_001035.2(RYR2): c.6982C> T (p.Pro2328Ser)single nucleotide variantPathogenicrs121918603GRCh37Chr 1, 237802368: 237802368
7RYR2NM_001035.2(RYR2): c.13957G> T (p.Val4653Phe)single nucleotide variantLikely pathogenic, Pathogenicrs121918604GRCh37Chr 1, 237961337: 237961337
8RYR2NM_001035.2(RYR2): c.12602A> G (p.Gln4201Arg)single nucleotide variantPathogenicrs121918605GRCh37Chr 1, 237947614: 237947614
9RYR2NM_001035.2(RYR2): c.14579C> G (p.Ala4860Gly)single nucleotide variantPathogenicrs121918606GRCh37Chr 1, 237982481: 237982481
10RYR2NM_001035.2(RYR2): c.11570A> G (p.Tyr3857Cys)single nucleotide variantLikely pathogenicrs587782975GRCh37Chr 1, 237935324: 237935324
11RYR2NM_001035.2(RYR2): c.365G> A (p.Arg122His)single nucleotide variantLikely pathogenicrs727503396GRCh37Chr 1, 237532889: 237532889
12DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
13RYR2NM_001035.2(RYR2): c.1847C> T (p.Ser616Leu)single nucleotide variantLikely pathogenicrs730880187GRCh38Chr 1, 237492973: 237492973
14RYR2NM_001035.2(RYR2): c.3271G> A (p.Glu1091Lys)single nucleotide variantLikely pathogenicrs730880191GRCh38Chr 1, 237566623: 237566623
15RYR2NM_001035.2(RYR2): c.12325A> G (p.Met4109Val)single nucleotide variantLikely pathogenicrs730880196GRCh38Chr 1, 237784037: 237784037
16RYR2NM_001035.2(RYR2): c.14726C> T (p.Thr4909Ile)single nucleotide variantLikely pathogenicrs730880201GRCh38Chr 1, 237830600: 237830600
17RYR2NM_001035.2(RYR2): c.169-199_273+819deldeletionPathogenicGRCh37Chr 1, 237493979: 237495101
18CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
19CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
20RYR2NM_001035.2(RYR2): c.12544G> C (p.Glu4182Gln)single nucleotide variantLikely pathogenicrs397516508GRCh37Chr 1, 237947556: 237947556
21RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665
22LMNANM_005572.3(LMNA): c.1201C> T (p.Arg401Cys)single nucleotide variantPathogenicrs61094188GRCh37Chr 1, 156106048: 156106048
23ANK2NM_001148.4(ANK2): c.10708G> A (p.Glu3570Lys)single nucleotide variantLikely pathogenic, Pathogenicrs180843436GRCh37Chr 4, 114282005: 114282005

Expression for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1.

Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Z discGO:00300189.5ANK2, RYR2
2sarcomereGO:00300179.3CALM1, RYR2
3intercalated discGO:00147049.2ANK2, DSG2
4calcium channel complexGO:00347049.2CALM1, RYR2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of AV node cell action potentialGO:009890410.1ANK2, RYR2
2regulation of SA node cell action potentialGO:009890710.1ANK2, RYR2
3regulation of atrial cardiac muscle cell action potentialGO:009891010.1ANK2, RYR2
4regulation of cardiac muscle contraction by calcium ion signalingGO:001088210.1ANK2, RYR2
5sarcoplasmic reticulum calcium ion transportGO:007029610.1ANK2, RYR2
6ventricular cardiac muscle cell action potentialGO:008600510.0ANK2, RYR2
7regulation of ventricular cardiac muscle cell action potentialGO:009891110.0DSG2, RYR2
8regulation of heart rate by cardiac conductionGO:00860919.8ANK2, DSG2
9detection of calcium ionGO:00055139.6CALM1, RYR2
10cellular calcium ion homeostasisGO:00068749.5ANK2, RYR2
11cardiac muscle contractionGO:00600489.5ANK2, RYR2
12cellular component disassembly involved in execution phase of apoptosisGO:00069219.4DSG2, LMNA
13programmed cell deathGO:00125019.4DSG2, LMNA
14regulation of cardiac muscle contractionGO:00551179.1ANK2, CALM1, RYR2
15regulation of heart rateGO:00020278.6ANK2, CALM1, RYR2
16regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.4ANK2, CALM1, RYR2

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199018.9ANK2, CALM1, RYR2
2ion channel bindingGO:00443258.9ANK2, CALM1, RYR2
3calcium ion bindingGO:00055098.6CALM1, DSG2, RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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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