MCID: VNT029
MIFTS: 41

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Aliases & Descriptions for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 49 11 67 24 65
Stress-Induced Polymorphic Ventricular Tachycardia 67 65
Bidirectional Tachycardia 67 65
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 65
Double Tachycardia Induced by Catecholamines 67
Paroxysmal Familial Ventricular Fibrillation 65
Malignant Paroxysmal Ventricular Tachycardia 67
Multifocal Premature Ventricular Beats 65
 
Multifocal Ventricular Premature Beats 67
Paroxysmal Ventricular Fibrillation 67
Syncopal Paroxysmal Tachycardia 67
Syncopal Tachyarythmia 67
Multifocal Pvcs 65
Vtsip 67
Cpvt4 67

Characteristics:

HPO:

61
ventricular tachycardia, catecholaminergic polymorphic, 4:
Inheritance: autosomal dominant inheritance
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM49 614916
MeSH36 D017180
UMLS65 C2930902, C0264903, C1735340 C0340493, C1631597, C2677794, C3554047, more

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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UniProtKB/Swiss-Prot:67 Ventricular tachycardia, catecholaminergic polymorphic, 4: 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, 4, also known as stress-induced polymorphic ventricular tachycardia, is related to ventricular tachycardia, catecholaminergic polymorphic, 2 and ventricular tachycardia, catecholaminergic polymorphic, 1, and has symptoms including syncope, cardiac arrest and vertigo. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1 (Phosphorylase Kinase, Delta)), and among its related pathways are Calcineurin-regulated NFAT-dependent transcription in lymphocytes and eNOS activation and regulation.

Description from OMIM:49 614916

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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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
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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 231.5CALM1, DSG2, RYR2, SCN5A
2ventricular tachycardia, catecholaminergic polymorphic, 131.5CALM1, DSG2, RYR2, SCN5A
3bidirectional tachycardia12.6
4paroxysmal ventricular fibrillation12.6
5ventricular fibrillation, paroxysmal familial, 212.1
6ventricular fibrillation, familial, 111.9
7calm1-related catecholaminergic polymorphic ventricular tachycardia11.8
8catecholaminergic polymorphic ventricular tachycardia11.8
9phlegmonous dacryocystitis10.2CALM1, CALM2
10laryngotracheitis10.2CALM1, CALM2
11pleural empyema10.2CALM1, CALM2
12bacterial meningitis10.2CALM1, CALM2
13pseudohypoaldosteronism, type iic10.2CALM1, CALM2
14leukocoria10.2CALM1, CALM2
15ureteral lymphoma10.2CALM1, CALM2
16exostosis10.2CALM1, CALM2
17primary angle-closure glaucoma10.2CALM1, CALM2
18staphyloenterotoxemia10.2CALM1, CALM2
19duodenal ulcer10.1CALM1, CALM2
20aniseikonia10.1CALM1, CALM2
21opportunistic bacterial infectious disease10.1CALM1, CALM2
22rheumatoid arthritis10.1
23colorectal cancer10.1
24asthma10.1
25cystic fibrosis10.1
26anorexia nervosa10.1
27arthritis10.1
28osteoarthritis10.1
29autism spectrum disorder10.1
30ovarian disease10.1
31diphtheria10.1
32pneumatosis cystoides intestinalis10.1
33tuberous sclerosis10.1
34biliary atresia10.1
35beriberi10.1
36hereditary angioedema10.1
37cholera10.1
38angioedema10.1
39status epilepticus10.1
40ovarian cancer10.1
41laryngeal carcinoma10.1
42dysembryoplastic neuroepithelial tumor10.1
43liposarcoma10.1
44cerebritis10.1
45laryngitis10.1
46pleomorphic liposarcoma10.1
47peritonitis10.1
48lichen planus10.1
49eosinophilia10.1
50linear lichen planus10.1

Graphical network of the top 20 diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:



Diseases related to ventricular tachycardia, catecholaminergic polymorphic, 4

Symptoms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Symptoms by clinical synopsis from OMIM:

614916

Clinical features from OMIM:

614916

HPO human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

id Description Frequency HPO Source Accession
1 syncope HP:0001279
2 cardiac arrest HP:0001695
3 vertigo HP:0002321
4 ventricular tachycardia HP:0004756

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Animal Models for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 or affiliated genes

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Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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UniProtKB/Swiss-Prot genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

67
id Symbol AA change Variation ID SNP ID
1CALM1p.Asn54IleVAR_069222
2CALM1p.Asn98SerVAR_069223

Clinvar genetic disease variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

5
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
4RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)single nucleotide variantPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
5RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)single nucleotide variantLikely pathogenic, Pathogenicrs794728756GRCh38Chr 1, 237640983: 237640983
6CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
7CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730
8RYR2NM_001035.2(RYR2): c.506G> A (p.Arg169Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516539GRCh37Chr 1, 237540665: 237540665
9SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
10SCN5ANM_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, 4

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Search GEO for disease gene expression data for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4.

Pathways for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Pathways related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 according to GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.7CALM1, CALM2, CALM3
2
Show member pathways
8.7CALM1, CALM2, CALM3
38.7CALM1, CALM2, CALM3
48.7CALM1, CALM2, CALM3
58.7CALM1, CALM2, CALM3
68.7CALM1, CALM2, CALM3
7
Show member pathways
8.7CALM1, CALM2, CALM3
88.7CALM1, CALM2, CALM3
9
Show member pathways
8.7CALM1, CALM2, CALM3
10
Show member pathways
8.7CALM1, CALM2, CALM3
11
Show member pathways
8.7CALM1, CALM2, CALM3
12
Show member pathways
8.7CALM1, CALM2, CALM3
13
Show member pathways
8.7CALM1, CALM2, CALM3
14
Show member pathways
8.7CALM1, CALM2, CALM3
15
Show member pathways
8.7CALM1, CALM2, CALM3
16
Show member pathways
8.7CALM1, CALM2, CALM3
17
Show member pathways
8.7CALM1, CALM2, CALM3
188.7CALM1, CALM2, CALM3
19
Show member pathways
8.7CALM1, CALM2, CALM3
208.7CALM1, CALM2, CALM3
21
Show member pathways
8.7CALM1, CALM2, CALM3
228.7CALM1, CALM2, CALM3
238.7CALM1, CALM2, CALM3
24
Show member pathways
8.7CALM1, CALM2, CALM3
258.7CALM1, CALM2, CALM3
268.7CALM1, CALM2, CALM3
278.7CALM1, CALM2, CALM3
288.7CALM1, CALM2, CALM3
298.7CALM1, CALM2, CALM3
308.7CALM1, CALM2, CALM3
318.7CALM1, CALM2, CALM3
328.7CALM1, CALM2, CALM3
338.7CALM1, CALM2, CALM3
348.7CALM1, CALM2, CALM3
358.7CALM1, CALM2, CALM3
368.7CALM1, CALM2, CALM3
378.7CALM1, CALM2, CALM3
388.7CALM1, CALM2, CALM3
398.7CALM1, CALM2, CALM3
40
Show member pathways
8.3CALM1, CALM2, CALM3, RYR2
41
Show member pathways
8.3CALM1, CALM2, CALM3, RYR2
42
Show member pathways
8.3CALM1, CALM2, CALM3, RYR2
438.3CALM1, CALM2, CALM3, RYR2
44
Show member pathways
8.3CALM1, CALM2, CALM3, RYR2
45
Show member pathways
8.3CALM1, CALM2, CALM3, RYR2
46
Show member pathways
8.3CALM1, CALM2, CALM3, RYR2
47
Show member pathways
8.2CALM1, CALM2, CALM3, SCN5A
48
Show member pathways
8.2CALM1, CALM2, CALM3, SCN5A
49
Show member pathways
7.7CALM1, CALM2, CALM3, RYR2, SCN5A
50
Show member pathways
7.7CALM1, CALM2, CALM3, RYR2, SCN5A

GO Terms for genes affiliated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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Cellular components related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vesicleGO:00319828.8CALM1, CALM2, CALM3
2nucleusGO:00056348.7CALM1, CALM2, CALM3

Biological processes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 according to GeneCards Suite gene sharing:

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1ventricular cardiac muscle cell action potentialGO:008600510.2RYR2, SCN5A
2regulation of heart rate by cardiac conductionGO:00860919.8DSG2, SCN5A
3positive regulation of protein autophosphorylationGO:00319549.8CALM1, CALM2
4carbohydrate metabolic processGO:00059759.2CALM1, CALM2, CALM3
5positive regulation of phosphoprotein phosphatase activityGO:00325169.2CALM1, CALM2, CALM3
6regulation of high voltage-gated calcium channel activityGO:19018419.2CALM1, CALM2, CALM3
7activation of phospholipase C activityGO:00072029.2CALM1, CALM2, CALM3
8rhodopsin mediated signaling pathwayGO:00160569.2CALM1, CALM2, CALM3
9positive regulation of protein dephosphorylationGO:00353079.2CALM1, CALM2, CALM3
10muscle contractionGO:00069369.2CALM1, CALM2, CALM3
11negative regulation of peptidyl-threonine phosphorylationGO:00108019.2CALM1, CALM2, CALM3
12positive regulation of peptidyl-threonine phosphorylationGO:00108009.2CALM1, CALM2, CALM3
13positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.2CALM1, CALM2, CALM3
14fibroblast growth factor receptor signaling pathwayGO:00085439.2CALM1, CALM2, CALM3
15negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.2CALM1, CALM2, CALM3
16platelet degranulationGO:00025769.2CALM1, CALM2, CALM3
17inositol phosphate metabolic processGO:00436479.2CALM1, CALM2, CALM3
18nitric oxide metabolic processGO:00462099.2CALM1, CALM2, CALM3
19response to calcium ionGO:00515929.2CALM1, CALM2, CALM3
20regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.2CALM1, CALM2, CALM3
21glycogen catabolic processGO:00059809.1CALM1, CALM2, CALM3
22platelet activationGO:00301689.1CALM1, CALM2, CALM3
23regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.1CALM1, CALM2, CALM3
24phosphorylationGO:00163109.1CALM1, CALM2, CALM3
25regulation of cytokinesisGO:00324659.1CALM1, CALM2, CALM3
26phototransduction, visible lightGO:00076039.1CALM1, CALM2, CALM3
27MAPK cascadeGO:00001659.1CALM1, CALM2, CALM3
28membrane organizationGO:00610249.1CALM1, CALM2, CALM3
29small GTPase mediated signal transductionGO:00072649.0CALM1, CALM2, CALM3
30synaptic transmissionGO:00072689.0CALM1, CALM2, CALM3
31positive regulation of protein serine/threonine kinase activityGO:00719029.0CALM1, CALM2, CALM3
32activation of MAPKK activityGO:00001868.9CALM1, CALM2, CALM3
33vascular endothelial growth factor receptor signaling pathwayGO:00480108.9CALM1, CALM2, CALM3
34insulin receptor signaling pathwayGO:00082868.9CALM1, CALM2, CALM3
35calcium-mediated signalingGO:00197228.8CALM1, CALM2, RYR2
36Fc-epsilon receptor signaling pathwayGO:00380958.8CALM1, CALM2, CALM3
37glucose metabolic processGO:00060068.7CALM1, CALM2, CALM3
38regulation of cardiac muscle contractionGO:00551178.7CALM1, CALM2, CALM3, RYR2
39response to amphetamineGO:00019758.6CALM1, CALM2, CALM3
40neurotrophin TRK receptor signaling pathwayGO:00480118.4CALM1, CALM2, CALM3
41axon guidanceGO:00074118.3CALM1, CALM2, CALM3, SCN5A

Molecular functions related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1type 3 metabotropic glutamate receptor bindingGO:00318009.1CALM1, CALM2
2protein N-terminus bindingGO:00474858.9CALM1, CALM2
3calcium-dependent protein bindingGO:00483068.7CALM1, CALM2, CALM3
4Ras guanyl-nucleotide exchange factor activityGO:00050888.7CALM1, CALM2, CALM3

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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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