CPVT2
MCID: VNT010
MIFTS: 37

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 (CPVT2) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Aliases & Descriptions for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 54 66 13
Catecholaminergic Polymorphic Ventricular Tachycardia 2 12 29
Stress-Induced Polymorphic Ventricular Tachycardia 66 69
Bidirectional Tachycardia 66 69
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 69
Double Tachycardia Induced by Catecholamines 66
Malignant Paroxysmal Ventricular Tachycardia 66
Paroxysmal Familial Ventricular Fibrillation 69
Multifocal Ventricular Premature Beats 66
Multifocal Premature Ventricular Beats 69
Paroxysmal Ventricular Fibrillation 66
Syncopal Paroxysmal Tachycardia 66
Syncopal Tachyarythmia 66
Multifocal Pvcs 69
Cvpt2 12
Vtsip 66
Cpvt2 66

Characteristics:

HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 2:
Mortality/Aging sudden death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611938
Disease Ontology 12 DOID:0060676
ICD10 33 I47.2
MedGen 40 C2677794
MeSH 42 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

UniProtKB/Swiss-Prot : 66 Ventricular tachycardia, catecholaminergic polymorphic, 2: 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. CPVT2 inheritance is autosomal recessive.

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, also known as catecholaminergic polymorphic ventricular tachycardia 2, is related to paroxysmal ventricular fibrillation and bidirectional tachycardia, and has symptoms including seizures, syncope and ventricular tachycardia. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2), and among its related pathways/superpathways are cAMP signaling pathway and Calcium signaling pathway.

Disease Ontology : 12 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has material basis in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13

Description from OMIM: 611938

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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
Catecholaminergic Polymorphic Ventricular Tachycardia 5 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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 paroxysmal ventricular fibrillation 12.3
2 bidirectional tachycardia 12.2
3 ventricular fibrillation, paroxysmal familial, 2 11.8
4 ventricular fibrillation, familial, 1 11.7
5 catecholaminergic polymorphic ventricular tachycardia 11.3
6 ventricular tachycardia, catecholaminergic polymorphic, 1 11.2
7 ventricular tachycardia, catecholaminergic polymorphic, 4 11.2
8 leukodystrophy, hypomyelinating, 2 9.9 CASQ2 RYR2
9 keppen-lubinsky syndrome 9.9 CASQ2 RYR2
10 parkinson disease 20, early-onset 9.9 CASQ2 RYR2
11 fibular hemimelia, bilateral 9.9 DSG2 RYR2
12 fibular hemimelia, unilateral 9.8 DSG2 RYR2
13 congenital absence of upper arm and forearm with hand present, bilateral 9.8 DSG2 RYR2
14 pervasive developmental disorder 9.8 DSG2 RYR2
15 atrial fibrillation, familial, 3 9.8 CALM1 RYR2
16 familial partial lipodystrophy 9.8 DSG2 RYR2
17 mastoiditis 9.7 CALM1 CASQ2 RYR2
18 hyperthyroxinemia 9.7 CALM1 RYR2
19 pulmonary embolism 9.7
20 bleeding disorder, platelet-type, 15 9.7 CALM1 DSG2 RYR2
21 spastic paraplegia 47, autosomal recessive 9.5 CALM1 CASQ2 DSG2 RYR2
22 arrhythmogenic right ventricular dysplasia 2 9.5 CALM1 CASQ2 DSG2 RYR2
23 autosomal dominant nocturnal frontal lobe epilepsy 2 9.5 CALM1 CASQ2 DSG2 RYR2

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:



Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Symptoms & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Symptoms by clinical synopsis from OMIM:

611938

Clinical features from OMIM:

611938

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

32
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 syncope 32 HP:0001279
3 ventricular tachycardia 32 HP:0004756

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:


seizures, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2

Search NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 29

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

66
id Symbol AA change Variation ID SNP ID
1 CASQ2 p.Asp307His VAR_016075 rs121434549
2 CASQ2 p.Leu167His VAR_044118 rs121434550
3 CASQ2 p.Arg33Gln VAR_055234 rs749547712
4 CASQ2 p.Lys180Arg VAR_076546

ClinVar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CASQ2 NM_001232.3(CASQ2): c.919G> C (p.Asp307His) single nucleotide variant Pathogenic rs121434549 GRCh37 Chromosome 1, 116247833: 116247833
2 CASQ2 NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs) deletion Pathogenic rs786205106 GRCh37 Chromosome 1, 116283415: 116283430
3 CASQ2 NM_001232.3(CASQ2): c.500T> A (p.Leu167His) single nucleotide variant Pathogenic rs121434550 GRCh37 Chromosome 1, 116280877: 116280877
4 CASQ2 NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs) deletion Pathogenic rs397507555 GRCh37 Chromosome 1, 116311101: 116311101
5 CASQ2 NM_001232.3(CASQ2): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs397507556 GRCh37 Chromosome 1, 116311066: 116311066
6 CASQ2 NM_001232.3(CASQ2): c.539A> G (p.Lys180Arg) single nucleotide variant Pathogenic rs886039816 GRCh37 Chromosome 1, 116275589: 116275589

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2.

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.62 CALM1 RYR2
2
Show member pathways
11.53 CALM1 RYR2
3 11.3 CALM1 RYR2
4
Show member pathways
11.29 CALM1 CASQ2 RYR2
5 10.7 CASQ2 RYR2

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.37 CASQ2 RYR2
2 sarcomere GO:0030017 9.32 CALM1 RYR2
3 sarcoplasmic reticulum GO:0016529 9.26 CASQ2 RYR2
4 sarcoplasmic reticulum membrane GO:0033017 9.16 CASQ2 RYR2
5 junctional sarcoplasmic reticulum membrane GO:0014701 8.96 CASQ2 RYR2
6 calcium channel complex GO:0034704 8.8 CALM1 CASQ2 RYR2

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.65 CALM1 CASQ2 RYR2
2 regulation of cardiac conduction GO:1903779 9.52 CASQ2 RYR2
3 calcium-mediated signaling GO:0019722 9.51 CALM1 RYR2
4 cardiac muscle contraction GO:0060048 9.49 CASQ2 RYR2
5 regulation of cardiac muscle contraction GO:0055117 9.46 CALM1 RYR2
6 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.43 CALM1 CASQ2
7 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.4 CALM1 CASQ2
8 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.37 DSG2 RYR2
9 regulation of heart rate GO:0002027 9.33 CALM1 CASQ2 RYR2
10 cellular response to caffeine GO:0071313 9.32 CASQ2 RYR2
11 Purkinje myocyte to ventricular cardiac muscle cell signaling GO:0086029 9.26 CASQ2 RYR2
12 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.13 CALM1 CASQ2 RYR2
13 detection of calcium ion GO:0005513 8.8 CALM1 CASQ2 RYR2

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.16 CALM1 RYR2
2 calcium-dependent protein binding GO:0048306 8.96 CALM1 CASQ2
3 calcium ion binding GO:0005509 8.92 CALM1 CASQ2 DSG2 RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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