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

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

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 52 70 12
Catecholaminergic Polymorphic Ventricular Tachycardia 2 11 27
Stress-Induced Polymorphic Ventricular Tachycardia 70 68
Bidirectional Tachycardia 70 68
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 68
Double Tachycardia Induced by Catecholamines 70
Paroxysmal Familial Ventricular Fibrillation 68
Malignant Paroxysmal Ventricular Tachycardia 70
Multifocal Ventricular Premature Beats 70
 
Multifocal Premature Ventricular Beats 68
Paroxysmal Ventricular Fibrillation 70
Syncopal Paroxysmal Tachycardia 70
Syncopal Tachyarythmia 70
Multifocal Pvcs 68
Vtsip 70
Cpvt2 70
Cvpt2 11

Characteristics:

HPO:

64
ventricular tachycardia, catecholaminergic polymorphic, 2:
Inheritance: autosomal recessive inheritance
Mortality/Aging: sudden death

Classifications:



External Ids:

OMIM52 611938
Disease Ontology11 DOID:0060676
ICD1030 I47.2
MedGen37 C2677794
MeSH39 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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UniProtKB/Swiss-Prot:70 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 seizures. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 is CASQ2 (Calsequestrin 2), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and cAMP signaling pathway.

Disease Ontology:11 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:52 611938

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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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
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)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal ventricular fibrillation12.3
2bidirectional tachycardia12.2
3ventricular fibrillation, paroxysmal familial, 211.8
4ventricular fibrillation, familial, 111.7
5catecholaminergic polymorphic ventricular tachycardia11.3
6ventricular tachycardia, catecholaminergic polymorphic, 111.2
7ventricular tachycardia, catecholaminergic polymorphic, 411.2
8leukodystrophy, hypomyelinating, 29.9CASQ2, RYR2
9keppen-lubinsky syndrome9.9CASQ2, RYR2
10parkinson disease 20, early-onset9.9CASQ2, RYR2
11fibular hemimelia, bilateral9.9DSG2, RYR2
12fibular hemimelia, unilateral9.8DSG2, RYR2
13congenital absence of upper arm and forearm with hand present, bilateral9.8DSG2, RYR2
14pervasive developmental disorder9.8DSG2, RYR2
15atrial fibrillation, familial, 39.8CALM1, RYR2
16familial partial lipodystrophy9.8DSG2, RYR2
17mastoiditis9.7CALM1, CASQ2, RYR2
18hyperthyroxinemia9.7CALM1, RYR2
19pulmonary embolism9.7
20bleeding disorder, platelet-type, 159.7CALM1, DSG2, RYR2
21spastic paraplegia 47, autosomal recessive9.5CALM1, CASQ2, DSG2, RYR2
22arrhythmogenic right ventricular dysplasia 29.5CALM1, CASQ2, DSG2, RYR2
23autosomal dominant nocturnal frontal lobe epilepsy 29.5CALM1, 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

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Symptoms by clinical synopsis from OMIM:

611938

Clinical features from OMIM:

611938

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

 64
id Description HPO Frequency HPO Source Accession
1 seizures64 HP:0001250
2 syncope64 HP:0001279
3 ventricular tachycardia64 HP:0004756

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


seizures, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular ArrhythmiasRecruitingNCT02856373Phase 2

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

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 227

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

70
id Symbol AA change Variation ID SNP ID
1CASQ2p.Asp307HisVAR_016075rs121434549
2CASQ2p.Leu167HisVAR_044118rs121434550
3CASQ2p.Arg33GlnVAR_055234rs749547712
4CASQ2p.Lys180ArgVAR_076546

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CASQ2NM_ 001232.3(CASQ2): c.919G> C (p.Asp307His)SNVPathogenicrs121434549GRCh37Chr 1, 116247833: 116247833
2CASQ2NM_ 001232.3(CASQ2): c.339_ 354del16 (p.Ser113Argfs)deletionPathogenicrs786205106GRCh37Chr 1, 116283415: 116283430
3CASQ2NM_ 001232.3(CASQ2): c.500T> A (p.Leu167His)SNVPathogenicrs121434550GRCh37Chr 1, 116280877: 116280877
4CASQ2NM_ 001232.3(CASQ2): c.539A> G (p.Lys180Arg)SNVPathogenicrs886039816GRCh37Chr 1, 116275589: 116275589
5CASQ2NM_ 001232.3(CASQ2): c.62delA (p.Glu21Glyfs)deletionPathogenicrs397507555GRCh37Chr 1, 116311101: 116311101
6CASQ2NM_ 001232.3(CASQ2): c.97C> T (p.Arg33Ter)SNVPathogenicrs397507556GRCh37Chr 1, 116311066: 116311066

Expression for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

idSuper pathwaysScoreTop Affiliating Genes
19.1CASQ2, RYR2
2
Show member pathways
9.1CALM1, RYR2
3
Show member pathways
9.1CALM1, RYR2
49.1CALM1, RYR2
5
Show member pathways
8.6CALM1, CASQ2, RYR2

GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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

idNameGO IDScoreTop Affiliating Genes
1junctional sarcoplasmic reticulum membraneGO:00147019.7CASQ2, RYR2
2sarcomereGO:00300179.7CALM1, RYR2
3sarcoplasmic reticulumGO:00165299.7CASQ2, RYR2
4sarcoplasmic reticulum membraneGO:00330179.7CASQ2, RYR2
5calcium channel complexGO:00347049.2CALM1, CASQ2, RYR2
6Z discGO:00300189.1CASQ2, RYR2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ryanodine-sensitive calcium-release channel activityGO:006031510.0CALM1, CASQ2
2calcium-mediated signalingGO:00197229.8CALM1, RYR2
3cardiac muscle contractionGO:00600489.8CASQ2, RYR2
4cellular response to caffeineGO:00713139.8CASQ2, RYR2
5Purkinje myocyte to ventricular cardiac muscle cell signalingGO:00860299.7CASQ2, RYR2
6regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.7CALM1, CASQ2
7regulation of cardiac conductionGO:19037799.7CASQ2, RYR2
8regulation of cardiac muscle contractionGO:00551179.6CALM1, RYR2
9detection of calcium ionGO:00055139.3CALM1, CASQ2, RYR2
10ion transmembrane transportGO:00342209.2CALM1, CASQ2, RYR2
11regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108819.1CALM1, CASQ2, RYR2
12regulation of ventricular cardiac muscle cell action potentialGO:00989119.0DSG2, RYR2
13regulation of heart rateGO:00020279.0CALM1, CASQ2, RYR2

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

idNameGO IDScoreTop Affiliating Genes
1calcium-dependent protein bindingGO:004830610.0CALM1, CASQ2
2ion channel bindingGO:00443259.1CALM1, RYR2
3calcium ion bindingGO:00055098.6CALM1, CASQ2, DSG2, RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet