MCID: VNT013
MIFTS: 41

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

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 65
Ventricular Tachycardia Catecholaminergic Polymorphic 1 67 24
Stress-Induced Polymorphic Ventricular Tachycardia 67 65
Bidirectional Tachycardia 67 65
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 67
Malignant Paroxysmal Ventricular Tachycardia 67
Double Tachycardia Induced by Catecholamines 67
Paroxysmal Familial Ventricular Fibrillation 65
 
Multifocal Premature Ventricular Beats 65
Multifocal Ventricular Premature Beats 67
Paroxysmal Ventricular Fibrillation 67
Syncopal Paroxysmal Tachycardia 67
Syncopal Tachyarythmia 67
Multifocal Pvcs 65
Vtsip 67
Cpvt1 67

Characteristics:

HPO:

61
ventricular tachycardia, catecholaminergic polymorphic, 1:
Mortality/Aging: sudden death
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 604772
MedGen34 C1631597
MeSH36 D017180
UMLS65 C2930902, C0264903, C1735340 C0340493, C1631597, C2677794, more

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, is related to ventricular tachycardia, catecholaminergic polymorphic, 2 and bidirectional tachycardia, and has symptoms including atrial fibrillation, ventricular tachycardia and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 is RYR2 (Ryanodine Receptor 2), and among its related pathways are SIDS Susceptibility Pathways and Interaction between L1 and Ankyrins. Affiliated tissues include heart, spinal cord and prostate.

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 30)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 230.4CALM1, DSG2, RYR2, SCN5A
2bidirectional tachycardia12.4
3paroxysmal ventricular fibrillation12.3
4ventricular fibrillation, paroxysmal familial, 211.7
5ventricular fibrillation, familial, 111.5
6ventricular tachycardia, catecholaminergic polymorphic, 411.4
7catecholaminergic polymorphic ventricular tachycardia11.4
8endocardium disease10.2RYR2, SCN5A
9prostate squamous cell carcinoma10.1RYR2, SCN5A
10familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.1DSG2, RYR2
11immunoglobulin a vasculitis10.1ANK2, SCN5A
12frontotemporal dementia, right temporal atrophy variant10.1DSG2, RYR2
13mitf-related melanoma and renal cell carcinoma predisposition syndrome10.1DSG2, RYR2
14sulfate transporter-related osteochondrodysplasia10.0ANK2, SCN5A
15spoan syndrome10.0RYR2, SCN5A
16specific developmental disorder10.0DSG2, RYR2
17transverse vaginal septum10.0DSG2, SCN5A
18asperger syndrome9.9DSG2, RYR2
19spinal canal and spinal cord meningioma9.9RYR2, SCN5A
20drug-induced hepatitis9.9RYR2, SCN5A
213mc syndrome9.9ANK2, SCN5A
22lissencephaly9.7ANK2, SCN5A
23sudden infant death syndrome9.6RYR2, SCN5A
24cardiomyopathy with or without skeletal myopathy9.5DSG2, RYR2, SCN5A
25inguinal hernia9.4CALM1, RYR2, SCN5A
26jervell and lange-nielsen syndrome9.4ANK2, CALM1, SCN5A
27bruxism8.9ANK2, CALM1, RYR2, SCN5A
28long qt syndrome 148.8CALM1, DSG2, RYR2, SCN5A
29caveolinopathies8.8ANK2, CALM1, DSG2, RYR2
30ventricular tachycardia, catecholaminergic polymorphic, 18.4ANK2, CALM1, DSG2, RYR2, SCN5A

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:

id Description Frequency HPO Source Accession
1 atrial fibrillation rare (5%) HP:0005110
2 ventricular tachycardia HP:0004756
3 syncope HP:0001279
4 seizures HP:0001250

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1:


syncope, seizures

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

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Drugs for Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 (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 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, Spinal cord, Prostate

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 24)
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
10DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
11RYR2NM_001035.2(RYR2): c.1847C> T (p.Ser616Leu)single nucleotide variantLikely pathogenicrs730880187GRCh38Chr 1, 237492973: 237492973
12RYR2NM_001035.2(RYR2): c.3271G> A (p.Glu1091Lys)single nucleotide variantLikely pathogenicrs730880191GRCh38Chr 1, 237566623: 237566623
13RYR2NM_001035.2(RYR2): c.12325A> G (p.Met4109Val)single nucleotide variantLikely pathogenicrs730880196GRCh38Chr 1, 237784037: 237784037
14RYR2NM_001035.2(RYR2): c.14726C> T (p.Thr4909Ile)single nucleotide variantLikely pathogenicrs730880201GRCh38Chr 1, 237830600: 237830600
15RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
16RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)single nucleotide variantLikely pathogenic, Pathogenicrs794728756GRCh38Chr 1, 237640983: 237640983
17CASQ2NM_001232.3(CASQ2): c.546delT (p.Phe182Leufs)deletionLikely pathogenicrs763955301GRCh37Chr 1, 116275582: 116275582
18RYR2NM_001035.2(RYR2): c.169-199_273+819deldeletionPathogenicGRCh37Chr 1, 237493979: 237495101
19CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
20CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
21RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665
22ANK2NM_001148.4(ANK2): c.10708G> A (p.Glu3570Lys)single nucleotide variantLikely pathogenic, Pathogenicrs180843436GRCh37Chr 4, 114282005: 114282005
23SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
24SCN5ANM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu)single nucleotide variantLikely pathogenic, Pathogenicrs137854604GRCh37Chr 3, 38592734: 38592734

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
1intercalated discGO:00147049.3ANK2, DSG2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of cardiac muscle contraction by calcium ion signalingGO:001088210.0ANK2, RYR2
2membrane depolarization during SA node cell action potentialGO:008604610.0ANK2, SCN5A
3regulation of ventricular cardiac muscle cell membrane repolarizationGO:00603079.9ANK2, SCN5A
4regulation of cardiac muscle cell contractionGO:00860049.9ANK2, SCN5A
5sarcoplasmic reticulum calcium ion transportGO:00702969.6ANK2, RYR2
6ventricular cardiac muscle cell action potentialGO:00860059.5ANK2, RYR2, SCN5A
7ion transportGO:00068119.4RYR2, SCN5A
8calcium-mediated signalingGO:00197229.2CALM1, RYR2
9regulation of heart rate by cardiac conductionGO:00860919.1ANK2, DSG2, SCN5A
10regulation of cardiac muscle contractionGO:00551178.9ANK2, CALM1, RYR2
11axon guidanceGO:00074118.3ANK2, CALM1, SCN5A

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