MCID: VNT010
MIFTS: 35

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

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

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 49 11 67 24
Stress-Induced Polymorphic Ventricular Tachycardia 67 65
Bidirectional Tachycardia 67 65
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 65
Double Tachycardia Induced by Catecholamines 67
Malignant Paroxysmal Ventricular Tachycardia 67
Paroxysmal Familial Ventricular Fibrillation 65
Multifocal Ventricular Premature Beats 67
 
Multifocal Premature Ventricular Beats 65
Paroxysmal Ventricular Fibrillation 67
Syncopal Paroxysmal Tachycardia 67
Syncopal Tachyarythmia 67
Multifocal Pvcs 65
Vtsip 67
Cpvt2 67

Characteristics:

HPO:

61
ventricular tachycardia, catecholaminergic polymorphic, 2:
Inheritance: autosomal recessive inheritance
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM49 611938
MedGen34 C2677794
MeSH36 D017180
UMLS65 C2930902, C0264903, C1735340 C0340493, C1631597, C2677794, more

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section
UniProtKB/Swiss-Prot:67 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 stress-induced polymorphic ventricular tachycardia, is related to ventricular tachycardia, catecholaminergic polymorphic, 1 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 are SIDS Susceptibility Pathways and Calcium signaling pathway. Affiliated tissues include spinal cord and prostate.

Description from OMIM:49 611938

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

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
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 27)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 130.1CALM1, DSG2, RYR2, SCN5A
2bidirectional tachycardia12.4
3paroxysmal ventricular fibrillation12.3
4ventricular fibrillation, paroxysmal familial, 211.7
5ventricular fibrillation, familial, 111.5
6catecholaminergic polymorphic ventricular tachycardia11.4
7ventricular tachycardia, catecholaminergic polymorphic, 411.3
8familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.1DSG2, RYR2
9frontotemporal dementia, right temporal atrophy variant10.1DSG2, RYR2
10mitf-related melanoma and renal cell carcinoma predisposition syndrome10.1DSG2, RYR2
11specific developmental disorder10.0DSG2, RYR2
12endocardium disease10.0RYR2, SCN5A
13transverse vaginal septum9.9DSG2, SCN5A
14prostate squamous cell carcinoma9.9RYR2, SCN5A
15asperger syndrome9.9DSG2, RYR2
16pulmonary embolism9.8
17spoan syndrome9.7RYR2, SCN5A
18drug-induced hepatitis9.7RYR2, SCN5A
19jervell and lange-nielsen syndrome9.7CALM1, SCN5A
20spinal canal and spinal cord meningioma9.6RYR2, SCN5A
21sudden infant death syndrome9.4RYR2, SCN5A
22cardiomyopathy with or without skeletal myopathy9.3DSG2, RYR2, SCN5A
23bruxism9.2CALM1, RYR2, SCN5A
24caveolinopathies8.9CALM1, CASQ2, DSG2, RYR2
25inguinal hernia8.8CALM1, CASQ2, RYR2, SCN5A
26long qt syndrome 148.7CALM1, DSG2, RYR2, SCN5A
27ventricular tachycardia, catecholaminergic polymorphic, 28.3CALM1, CASQ2, DSG2, RYR2, SCN5A

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



Diseases related to ventricular tachycardia, catecholaminergic polymorphic, 2

Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

Symptoms by clinical synopsis from OMIM:

611938

Clinical features from OMIM:

611938

HPO human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

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

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


syncope, seizures

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

Interventional clinical trials:

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

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 2:

33
Spinal cord, Prostate

Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 or affiliated genes

About this section

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section

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

67
id Symbol AA change Variation ID SNP ID
1CASQ2p.Asp307HisVAR_016075
2CASQ2p.Leu167HisVAR_044118
3CASQ2p.Arg33GlnVAR_055234

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

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1RYR2NM_001035.2(RYR2): c.6737C> T (p.Ser2246Leu)single nucleotide variantPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2RYR2NM_001035.2(RYR2): c.1298T> C (p.Leu433Pro)single nucleotide variantPathogenicrs121918602GRCh37Chr 1, 237617696: 237617696
3DSG2NM_001943.3(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
4CASQ2NM_001232.3(CASQ2): c.919G> C (p.Asp307His)single nucleotide variantPathogenicrs121434549GRCh37Chr 1, 116247833: 116247833
5CASQ2NM_001232.3(CASQ2): c.339_354del16 (p.Ser113Argfs)deletionPathogenicrs786205106GRCh37Chr 1, 116283415: 116283430
6CASQ2NM_001232.3(CASQ2): c.500T> A (p.Leu167His)single nucleotide variantPathogenicrs121434550GRCh37Chr 1, 116280877: 116280877
7RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
8RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)single nucleotide variantLikely pathogenic, Pathogenicrs794728756GRCh38Chr 1, 237640983: 237640983
9CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
10CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely 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)single nucleotide variantPathogenicrs397507556GRCh37Chr 1, 116311066: 116311066
13RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665
14CASQ2NM_001232.3(CASQ2): c.578_580delTCAinsAC (p.Ile193Asnfs)indelLikely pathogenicrs397516643GRCh37Chr 1, 116275548: 116275550
15SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
16SCN5ANM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu)single nucleotide variantLikely pathogenic, Pathogenicrs137854604GRCh37Chr 3, 38592734: 38592734

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

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

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

About this section

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

About this section

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle cell action potentialGO:00860059.8RYR2, SCN5A
2regulation of heart rate by cardiac conductionGO:00860919.6DSG2, SCN5A
3cellular response to caffeineGO:00713139.6CASQ2, RYR2
4cardiac muscle contractionGO:00600489.5CASQ2, RYR2
5negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.4CALM1, CASQ2
6regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.3CALM1, CASQ2
7regulation of cardiac muscle contractionGO:00551179.3CALM1, RYR2
8calcium-mediated signalingGO:00197229.1CALM1, RYR2
9ion transportGO:00068119.0RYR2, SCN5A

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet