CPVT3
MCID: VNT027
MIFTS: 33

Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 (CPVT3)

Categories: Cancer diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 57 72 29 13 6 70
Catecholaminergic Polymorphic Ventricular Tachycardia 3 12 15
Cpvt3 57 72
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3 39
Cvpt3 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at early age, associated with sudden death in childhood


HPO:

31
ventricular tachycardia, catecholaminergic polymorphic, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060677
OMIM® 57 614021
OMIM Phenotypic Series 57 PS604772
MeSH 44 D017180
ICD10 32 I47.2
MedGen 41 C3151463
UMLS 70 C3151463

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

OMIM® : 57 Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see 192500) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by Devalla et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772. (614021) (Updated 20-May-2021)

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 3, also known as catecholaminergic polymorphic ventricular tachycardia 3, is related to long qt syndrome 15 and long qt syndrome 14, and has symptoms including syncope An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 is TECRL (Trans-2,3-Enoyl-CoA Reductase Like), and among its related pathways/superpathways are Cardiac muscle contraction and Antiarrhythmic Pathway, Pharmacodynamics. Affiliated tissues include heart, and related phenotypes are prolonged qt interval and syncope

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has material basis in variation in the chromosomal region 7p22-p14.

UniProtKB/Swiss-Prot : 72 Ventricular tachycardia, catecholaminergic polymorphic, 3: 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, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation.

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Catecholaminergic Polymorphic Ventricular Tachycardia 5

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 15 10.0 TECRL KCNJ2
2 long qt syndrome 14 10.0 TECRL KCNJ2
3 jervell and lange-nielsen syndrome 1 9.8 KCNJ2 CASQ2
4 sinoatrial node disease 9.8 RYR2 KCNJ2
5 long qt syndrome 9 9.7 RYR2 KCNJ2
6 arrhythmogenic right ventricular dysplasia, familial, 2 9.7 RYR2 CASQ2
7 cardiac arrhythmia, ankyrin-b-related 9.7 RYR2 KCNJ2
8 ventricular tachycardia, catecholaminergic polymorphic, 2 9.7 RYR2 CASQ2
9 intrinsic cardiomyopathy 9.6 RYR2 KCNJ2
10 cardiac arrest 9.5 TECRL RYR2 CASQ2
11 long qt syndrome 3 9.5 RYR2 KCNJ2 CASQ2
12 timothy syndrome 9.5 RYR2 KCNJ2 CASQ2
13 short qt syndrome 9.5 RYR2 KCNJ2 CASQ2
14 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.5 RYR2 KCNJ2 CASQ2
15 myasthenic syndrome, congenital, 5 9.5 RYR2 KCNJ2 CASQ2
16 malignant hyperthermia 9.4 RYR2 CASQ2
17 left ventricular noncompaction 9.4 RYR2 KCNJ2 CASQ2
18 andersen cardiodysrhythmic periodic paralysis 9.3 TECRL RYR2 KCNJ2 CASQ2
19 long qt syndrome 2 9.3 TECRL RYR2 KCNJ2 CASQ2
20 long qt syndrome 9.3 TECRL RYR2 KCNJ2 CASQ2
21 catecholaminergic polymorphic ventricular tachycardia 9.3 TECRL RYR2 KCNJ2 CASQ2
22 familial atrial fibrillation 9.3 TECRL RYR2 KCNJ2 CASQ2
23 long qt syndrome 1 9.3 TECRL RYR2 KCNJ2 CASQ2
24 heart conduction disease 9.3 TECRL RYR2 KCNJ2 CASQ2
25 brugada syndrome 9.2 TECRL RYR2 KCNJ2 CASQ2
26 lipoprotein quantitative trait locus 9.2 RYR2 KCNJ2 CASQ2
27 dilated cardiomyopathy 9.2 RYR2 MYC KCNJ2 CASQ2
28 congenital myasthenic syndrome 9.2 RYR2 MYC KCNJ2 CASQ2
29 hypertrophic cardiomyopathy 9.2 RYR2 MYC KCNJ2 CASQ2

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:

31
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 31 HP:0001657
2 syncope 31 HP:0001279
3 ventricular tachycardia 31 HP:0004756
4 sudden death 31 HP:0001699

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
syncope
sudden death
polymorphic ventricular tachycardia induced by emotion or physical activity
prolonged qt interval (in some patients)

Clinical features from OMIM®:

614021 (Updated 20-May-2021)

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:


syncope

MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CASQ2 KCNJ2 MYC RYR2

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Search Clinical Trials , NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:

# Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 29 TECRL

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:

40
Heart

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:

# Title Authors PMID Year
1
A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family. 57 6
30790670 2019
2
TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. 6 57
27861123 2016
3
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. 6 57
17666061 2007
4
Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. 61
32173957 2020

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TECRL NM_001010874.5(TECRL):c.331+1G>A SNV Pathogenic 372283 rs1057517699 GRCh37: 4:65194229-65194229
GRCh38: 4:64328511-64328511
2 TECRL NM_001010874.5(TECRL):c.918+3A>G SNV Pathogenic 814027 rs958406908 GRCh37: 4:65147189-65147189
GRCh38: 4:64281471-64281471
3 TECRL NM_001010874.5(TECRL):c.1A>G (p.Met1Val) SNV Pathogenic 1028442 GRCh37: 4:65275069-65275069
GRCh38: 4:64409351-64409351
4 TECRL NM_001010874.5(TECRL):c.1009del (p.Ala337fs) Deletion Pathogenic 1034364 GRCh37: 4:65145873-65145873
GRCh38: 4:64280155-64280155
5 TECRL NM_001010874.5(TECRL):c.214C>T (p.Gln72Ter) SNV Pathogenic 1034366 GRCh37: 4:65274856-65274856
GRCh38: 4:64409138-64409138
6 TECRL NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) SNV Pathogenic 372284 rs773204795 GRCh37: 4:65175614-65175614
GRCh38: 4:64309896-64309896
7 TECRL NM_001010874.5(TECRL):c.172A>G (p.Thr58Ala) SNV Uncertain significance 1034365 GRCh37: 4:65274898-65274898
GRCh38: 4:64409180-64409180

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.9 RYR2 CASQ2
2 10.55 RYR2 KCNJ2 CASQ2

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.4 RYR2 CASQ2
2 rough endoplasmic reticulum GO:0005791 9.37 MYC KCNJ2
3 sarcoplasmic reticulum GO:0016529 9.32 RYR2 CASQ2
4 sarcoplasmic reticulum membrane GO:0033017 9.26 RYR2 CASQ2
5 calcium channel complex GO:0034704 9.16 RYR2 CASQ2
6 smooth endoplasmic reticulum GO:0005790 8.96 RYR2 KCNJ2
7 junctional sarcoplasmic reticulum membrane GO:0014701 8.62 RYR2 CASQ2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cardiac conduction GO:1903779 9.43 RYR2 CASQ2
2 cardiac muscle contraction GO:0060048 9.4 RYR2 CASQ2
3 regulation of heart rate GO:0002027 9.37 RYR2 CASQ2
4 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.32 RYR2 CASQ2
5 detection of calcium ion GO:0005513 9.26 RYR2 CASQ2
6 regulation of membrane repolarization GO:0060306 9.16 KCNJ2 CASQ2
7 cellular response to caffeine GO:0071313 8.96 RYR2 CASQ2
8 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 8.62 RYR2 CASQ2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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