MCID: VNT010
MIFTS: 36

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 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.

MalaCards based summary: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2, also known as catecholaminergic polymorphic ventricular tachycardia 2, is related to ventricular tachycardia, catecholaminergic polymorphic, 1 and paroxysmal ventricular fibrillation, 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 are Antiarrhythmic Pathway, Pharmacodynamics and Insulin secretion.

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 16)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 130.5CALM1, DSG2, RYR2
2paroxysmal ventricular fibrillation12.3
3bidirectional tachycardia12.2
4ventricular fibrillation, paroxysmal familial, 211.8
5ventricular fibrillation, familial, 111.7
6catecholaminergic polymorphic ventricular tachycardia11.3
7ventricular tachycardia, catecholaminergic polymorphic, 411.2
8melancholia9.7CALM1, RYR2
9pulmonary embolism9.7
10frontotemporal dementia, right temporal atrophy variant9.6DSG2, RYR2
11fixed pigmented erythema9.5DSG2, RYR2
12ketamine-induced biliary dilatation9.5DSG2, RYR2
13umbilical hernia9.4CALM1, CASQ2, RYR2
14autoimmune disease of skin and connective tissue9.4DSG2, RYR2
15usher syndrome9.2DSG2, RYR2
16cerebral cavernous malformation, familial8.7CALM1, CASQ2, DSG2, RYR2

Graphical network of 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 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)SNVPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2DSG2NM_001943.4(DSG2): c.166G> A (p.Val56Met)SNVPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
3CASQ2NM_001232.3(CASQ2): c.919G> C (p.Asp307His)SNVPathogenicrs121434549GRCh37Chr 1, 116247833: 116247833
4CASQ2NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs)deletionPathogenicrs786205106GRCh37Chr 1, 116283415: 116283430
5CASQ2NM_001232.3(CASQ2): c.500T> A (p.Leu167His)SNVPathogenicrs121434550GRCh37Chr 1, 116280877: 116280877
6RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)SNVPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
7RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)SNVLikely pathogenic, Pathogenicrs794728756GRCh37Chr 1, 237804283: 237804283
8CASQ2NM_001232.3(CASQ2): c.539A> G (p.Lys180Arg)SNVPathogenicrs886039816GRCh37Chr 1, 116275589: 116275589
9CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)SNVLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
10CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)SNVLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
11CASQ2NM_001232.3(CASQ2): c.62delA (p.Glu21Glyfs)deletionPathogenicrs397507555GRCh37Chr 1, 116311101: 116311101
12CASQ2NM_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
19.3CASQ2, RYR2
2
Show member pathways
9.3CALM1, RYR2
3
Show member pathways
9.3CALM1, RYR2
49.3CALM1, RYR2
5
Show member pathways
8.8CALM1, 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:00147019.9CASQ2, RYR2
2sarcomereGO:00300179.9CALM1, RYR2
3sarcoplasmic reticulumGO:00165299.9CASQ2, RYR2
4sarcoplasmic reticulum membraneGO:00330179.9CASQ2, RYR2
5calcium channel complexGO:00347049.4CALM1, CASQ2, RYR2
6Z discGO:00300189.3CASQ2, RYR2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ryanodine-sensitive calcium-release channel activityGO:006031510.0CALM1, CASQ2
2cardiac muscle contractionGO:006004810.0CASQ2, RYR2
3cellular response to caffeineGO:007131310.0CASQ2, RYR2
4Purkinje myocyte to ventricular cardiac muscle cell signalingGO:00860299.9CASQ2, RYR2
5regulation of cardiac conductionGO:19037799.9CASQ2, RYR2
6regulation of cardiac muscle contractionGO:00551179.8CALM1, RYR2
7regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.7CALM1, CASQ2
8detection of calcium ionGO:00055139.5CALM1, CASQ2, RYR2
9ion transmembrane transportGO:00342209.4CALM1, CASQ2, RYR2
10regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108819.3CALM1, CASQ2, RYR2
11regulation of heart rateGO:00020279.2CALM1, CASQ2, RYR2
12regulation of ventricular cardiac muscle cell action potentialGO:00989119.0DSG2, 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:00443259.3CALM1, 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