CPVT3
MCID: VNT027
MIFTS: 22

Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 (CPVT3)

Categories: 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 58 76 30 13 6 74
Catecholaminergic Polymorphic Ventricular Tachycardia 3 12 15
Cpvt3 58 76
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3 41
Cvpt3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ventricular tachycardia, catecholaminergic polymorphic, 3:
Mortality/Aging sudden death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060677
OMIM 58 614021
MeSH 45 D017180
ICD10 34 I47.2
MedGen 43 C3151463
UMLS 74 C3151463

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

OMIM : 58 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)

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 3, also known as catecholaminergic polymorphic ventricular tachycardia 3, is related to catecholaminergic polymorphic ventricular tachycardia, and has symptoms including syncope An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 is TECRL (Trans-2,3-Enoyl-CoA Reductase Like). 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 catecholaminergic polymorphic ventricular tachycardia 9.5 KCNJ2 TECRL

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

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

33
# Description HPO Frequency HPO Source Accession
1 prolonged qt interval 33 HP:0001657
2 syncope 33 HP:0001279
3 ventricular tachycardia 33 HP:0004756

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden death
syncope
polymorphic ventricular tachycardia induced by emotion or physical activity
borderline prolonged qt interval

Clinical features from OMIM:

614021

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


syncope

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 30 TECRL

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TECRL NM_001010874.4(TECRL): c.331+1G> A single nucleotide variant Pathogenic rs1057517699 GRCh38 Chromosome 4, 64328511: 64328511
2 TECRL NM_001010874.4(TECRL): c.331+1G> A single nucleotide variant Pathogenic rs1057517699 GRCh37 Chromosome 4, 65194229: 65194229
3 TECRL NM_001010874.4(TECRL): c.587G> A (p.Arg196Gln) single nucleotide variant Likely pathogenic rs773204795 GRCh38 Chromosome 4, 64309896: 64309896
4 TECRL NM_001010874.4(TECRL): c.587G> A (p.Arg196Gln) single nucleotide variant Likely pathogenic rs773204795 GRCh37 Chromosome 4, 65175614: 65175614

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

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 rough endoplasmic reticulum GO:0005791 8.62 KCNJ2 MYC

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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