MCID: VNT029
MIFTS: 33

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

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 24 67
Stress-Induced Polymorphic Ventricular Tachycardia 67
Double Tachycardia Induced by Catecholamines 67
Malignant Paroxysmal Ventricular Tachycardia 67
Multifocal Ventricular Premature Beats 67
Paroxysmal Ventricular Fibrillation 67
 
Syncopal Paroxysmal Tachycardia 67
Bidirectional Tachycardia 67
Syncopal Tachyarythmia 67
Cpvt4 67
Vtsip 67


Classifications:



External Ids:

OMIM49 614916
MeSH36 D017180

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 bidirectional tachycardia and paroxysmal ventricular fibrillation, and has symptoms including autosomal dominant inheritance, syncope and cardiac arrest. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1 (Phosphorylase Kinase, Delta)), and among its related pathways are Translation Translation regulation by Alpha-1 adrenergic receptors and MicroRNAs in cardiomyocyte hypertrophy.

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 all 33)
idRelated DiseaseScoreTop Affiliating Genes
1bidirectional tachycardia11.0
2paroxysmal ventricular fibrillation10.8
3catecholaminergic polymorphic ventricular tachycardia10.5
4ventricular fibrillation, familial, 110.4
5ventricular fibrillation, paroxysmal familial, 210.4
6syncope10.4
7idiopathic ventricular fibrillation, not brugada type10.2
8ventricular tachycardia, catecholaminergic polymorphic, 210.2
9ventricular tachycardia, catecholaminergic polymorphic, 110.2
10pulmonary embolism10.2
11calm1-related catecholaminergic polymorphic ventricular tachycardia10.1
12nephrosclerosis9.9CALM1, CALM2
13otosalpingitis9.9CALM1, CALM2
14otomycosis9.9CALM1, CALM2
15chorea gravidarum9.9CALM1, CALM2
16mycotic corneal ulcer9.9CALM1, CALM2
17giant cell tumor9.9CALM1, CALM2
18osteomalacia9.8CALM1, CALM2
19krukenberg carcinoma9.8CALM1, CALM2
20bipolar i disorder9.8CALM1, CALM2
21prion disease9.8CALM1, CALM2
22common bile duct disease9.8CALM1, CALM2
23osteochondritis of tarsal/metatarsal bone9.8CALM1, CALM2
24biotin deficiency9.8CALM1, CALM2
25arterial calcification of infancy9.7CALM1, CALM2
26long qt syndrome 149.7CALM1, CALM2, CALM3
27bleeding disorder, platelet-type, 159.7CALM1, CALM2, CALM3
28long qt syndrome 159.7CALM1, CALM2, CALM3
29syphilitic spinal sclerosis9.7CALM1, CALM2, CALM3
30caveolinopathies9.7CALM1, CALM2, CALM3
31uvulitis9.7CALM1, CALM2, CALM3
32lower urinary tract calculus9.7CALM1, CALM2, CALM3
33long qt syndrome 19.6CALM1, CALM2

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:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 syncope HP:0001279
3 cardiac arrest HP:0001695
4 sudden death HP:0001699
5 vertigo HP:0002321
6 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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Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 424

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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MGI Mouse Phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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
1CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)single nucleotide variantLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
2CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267607277GRCh37Chr 14, 90870730: 90870730

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 103)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5CALM1, CALM2, CALM3
28.5CALM1, CALM2, CALM3
3
Show member pathways
8.5CALM1, CALM2, CALM3
4
Show member pathways
8.5CALM1, CALM2, CALM3
5
Show member pathways
8.5CALM1, CALM2, CALM3
6
Inositol phosphate metabolism (REACTOME)
Show member pathways
8.5CALM1, CALM2, CALM3
78.5CALM1, CALM2, CALM3
88.5CALM1, CALM2, CALM3
9
Show member pathways
8.5CALM1, CALM2, CALM3
10
Show member pathways
8.5CALM1, CALM2, CALM3
11
Show member pathways
8.5CALM1, CALM2, CALM3
12
Show member pathways
8.5CALM1, CALM2, CALM3
13
Show member pathways
8.5CALM1, CALM2, CALM3
14
Show member pathways
8.5CALM1, CALM2, CALM3
15
Show member pathways
8.5CALM1, CALM2, CALM3
16
Show member pathways
8.5CALM1, CALM2, CALM3
17
Show member pathways
8.5CALM1, CALM2, CALM3
18
Show member pathways
8.5CALM1, CALM2, CALM3
198.5CALM1, CALM2, CALM3
208.5CALM1, CALM2, CALM3
21
Show member pathways
8.5CALM1, CALM2, CALM3
22
Show member pathways
8.5CALM1, CALM2, CALM3
23
Show member pathways
8.5CALM1, CALM2, CALM3
24
Show member pathways
8.5CALM1, CALM2, CALM3
258.5CALM1, CALM2, CALM3
26
Show member pathways
8.5CALM1, CALM2, CALM3
278.5CALM1, CALM2, CALM3
288.5CALM1, CALM2, CALM3
298.5CALM1, CALM2, CALM3
308.5CALM1, CALM2, CALM3
318.5CALM1, CALM2, CALM3
328.5CALM1, CALM2, CALM3
33
p38 MAPK signaling pathway (Pathway Interaction Database)
Show member pathways
8.5CALM1, CALM2, CALM3
348.5CALM1, CALM2, CALM3
358.5CALM1, CALM2, CALM3
368.5CALM1, CALM2, CALM3
378.5CALM1, CALM2, CALM3
388.5CALM1, CALM2, CALM3
398.5CALM1, CALM2, CALM3
40
Show member pathways
8.5CALM1, CALM2, CALM3
418.5CALM1, CALM2, CALM3
428.5CALM1, CALM2, CALM3
43
Show member pathways
8.5CALM1, CALM2, CALM3
44
Show member pathways
8.5CALM1, CALM2, CALM3
458.5CALM1, CALM2, CALM3
468.5CALM1, CALM2, CALM3
478.5CALM1, CALM2, CALM3
488.5CALM1, CALM2, CALM3
49
Show member pathways
8.5CALM1, CALM2, CALM3
508.5CALM1, CALM2, CALM3

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
1sarcomereGO:00300179.0CALM1, CALM2, CALM3
2calcium channel complexGO:00347049.0CALM1, CALM2, CALM3
3spindle microtubuleGO:00058768.9CALM1, CALM2, CALM3
4vesicleGO:00319828.8CALM1, CALM2, CALM3
5spindle poleGO:00009228.6CALM1, CALM2, CALM3
6centrosomeGO:00058138.5CALM1, CALM2, CALM3
7growth coneGO:00304268.2CALM1, CALM2, CALM3

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

(show top 50)    (show all 55)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of peptidyl-threonine phosphorylationGO:00108019.1CALM1, CALM2, CALM3
2rhodopsin mediated signaling pathwayGO:00160569.1CALM1, CALM2, CALM3
3regulation of rhodopsin mediated signaling pathwayGO:00224009.1CALM1, CALM2, CALM3
4positive regulation of cyclic nucleotide metabolic processGO:00308019.1CALM1, CALM2, CALM3
5positive regulation of protein autophosphorylationGO:00319549.1CALM1, CALM2, CALM3
6regulation of cytokinesisGO:00324659.1CALM1, CALM2, CALM3
7positive regulation of protein dephosphorylationGO:00353079.1CALM1, CALM2, CALM3
8inositol phosphate metabolic processGO:00436479.1CALM1, CALM2, CALM3
9positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.1CALM1, CALM2, CALM3
10response to calcium ionGO:00515929.1CALM1, CALM2, CALM3
11regulation of cardiac muscle contractionGO:00551179.1CALM1, CALM2, CALM3
12positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.1CALM1, CALM2, CALM3
13regulation of high voltage-gated calcium channel activityGO:19018419.1CALM1, CALM2, CALM3
14regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.1CALM1, CALM2, CALM3
15detection of calcium ionGO:00055139.1CALM1, CALM2, CALM3
16negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.1CALM1, CALM2, CALM3
17positive regulation of phosphoprotein phosphatase activityGO:00325169.1CALM1, CALM2, CALM3
18activation of phospholipase C activityGO:00072029.1CALM1, CALM2, CALM3
19positive regulation of peptidyl-threonine phosphorylationGO:00108009.1CALM1, CALM2, CALM3
20platelet degranulationGO:00025769.1CALM1, CALM2, CALM3
21stimulatory C-type lectin receptor signaling pathwayGO:00022239.0CALM1, CALM2, CALM3
22substantia nigra developmentGO:00217629.0CALM1, CALM2, CALM3
23activation of adenylate cyclase activityGO:00071909.0CALM1, CALM2, CALM3
24response to corticosteroneGO:00514129.0CALM1, CALM2, CALM3
25glycogen catabolic processGO:00059809.0CALM1, CALM2, CALM3
26positive regulation of protein serine/threonine kinase activityGO:00719029.0CALM1, CALM2, CALM3
27muscle contractionGO:00069369.0CALM1, CALM2, CALM3
28glucose metabolic processGO:00060069.0CALM1, CALM2, CALM3
29membrane organizationGO:00610249.0CALM1, CALM2, CALM3
30phototransduction, visible lightGO:00076039.0CALM1, CALM2, CALM3
31nitric oxide metabolic processGO:00462099.0CALM1, CALM2, CALM3
32regulation of nitric-oxide synthase activityGO:00509999.0CALM1, CALM2, CALM3
33positive regulation of nitric-oxide synthase activityGO:00510009.0CALM1, CALM2, CALM3
34carbohydrate metabolic processGO:00059759.0CALM1, CALM2, CALM3
35response to amphetamineGO:00019759.0CALM1, CALM2, CALM3
36MAPK cascadeGO:00001658.9CALM1, CALM2, CALM3
37activation of MAPKK activityGO:00001868.9CALM1, CALM2, CALM3
38Ras protein signal transductionGO:00072658.9CALM1, CALM2, CALM3
39insulin receptor signaling pathwayGO:00082868.9CALM1, CALM2, CALM3
40fibroblast growth factor receptor signaling pathwayGO:00085438.9CALM1, CALM2, CALM3
41Fc-epsilon receptor signaling pathwayGO:00380958.9CALM1, CALM2, CALM3
42neurotrophin TRK receptor signaling pathwayGO:00480118.9CALM1, CALM2, CALM3
43synaptic transmissionGO:00072688.8CALM1, CALM2, CALM3
44epidermal growth factor receptor signaling pathwayGO:00071738.8CALM1, CALM2, CALM3
45vascular endothelial growth factor receptor signaling pathwayGO:00480108.8CALM1, CALM2, CALM3
46phosphorylationGO:00163108.6CALM1, CALM2, CALM3
47platelet activationGO:00301688.5CALM1, CALM2, CALM3
48regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.5CALM1, CALM2, CALM3
49regulation of heart rateGO:00020278.4CALM1, CALM2, CALM3
50regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108808.2CALM1, CALM2, CALM3

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase regulator activityGO:00302359.1CALM1, CALM2, CALM3
2titin bindingGO:00314329.0CALM1, CALM2, CALM3
3type 3 metabotropic glutamate receptor bindingGO:00318009.0CALM1, CALM2, CALM3
4N-terminal myristoylation domain bindingGO:00319979.0CALM1, CALM2, CALM3
5protein phosphatase activator activityGO:00725429.0CALM1, CALM2, CALM3
6protein serine/threonine kinase activator activityGO:00435399.0CALM1, CALM2, CALM3
7thioesterase bindingGO:00319969.0CALM1, CALM2, CALM3
8adenylate cyclase bindingGO:00081799.0CALM1, CALM2, CALM3
9calcium-dependent protein bindingGO:00483068.9CALM1, CALM2, CALM3
10phosphatidylinositol 3-kinase bindingGO:00435488.9CALM1, CALM2, CALM3
11protein kinase bindingGO:00199018.9CALM1, CALM2, CALM3
12ion channel bindingGO:00443258.8CALM1, CALM2, CALM3
13protein domain specific bindingGO:00199048.7CALM1, CALM2, CALM3
14calcium ion bindingGO:00055098.7CALM1, CALM2, CALM3
15nitric-oxide synthase bindingGO:00509988.5CALM1, CALM2, CALM3
16phospholipase bindingGO:00432748.4CALM1, CALM2, CALM3
17kinase activityGO:00163018.2CALM1, CALM2, CALM3

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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2CDC
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15FDA
16FMA
24GTR
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26HMDB
27ICD10
28ICD10 via Orphanet
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50OMIM via Orphanet
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60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
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66UMLS via Orphanet