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 51 69 12 67
Catecholaminergic Polymorphic Ventricular Tachycardia 4 11 26
Stress-Induced Polymorphic Ventricular Tachycardia 69 67
Bidirectional Tachycardia 69 67
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 67
Double Tachycardia Induced by Catecholamines 69
Paroxysmal Familial Ventricular Fibrillation 67
Malignant Paroxysmal Ventricular Tachycardia 69
Multifocal Ventricular Premature Beats 69
 
Multifocal Premature Ventricular Beats 67
Paroxysmal Ventricular Fibrillation 69
Syncopal Paroxysmal Tachycardia 69
Syncopal Tachyarythmia 69
Multifocal Pvcs 67
Cpvt4 69
Vtsip 69
Cvpt4 11

Characteristics:

HPO:

63
ventricular tachycardia, catecholaminergic polymorphic, 4:
Inheritance: autosomal dominant inheritance
Mortality/Aging: sudden death

Classifications:



External Ids:

OMIM51 614916
Disease Ontology11 DOID:0060678
ICD1029 I47.2
MeSH38 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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UniProtKB/Swiss-Prot:69 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 catecholaminergic polymorphic ventricular tachycardia 4, is related to ventricular tachycardia, catecholaminergic polymorphic, 1 and paroxysmal ventricular fibrillation, and has symptoms including syncope, cardiac arrest and vertigo. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1), and among its related pathways are Calcineurin-regulated NFAT-dependent transcription in lymphocytes and Immune response Function of MEF2 in T lymphocytes.

Disease Ontology:11 A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has material basis in heterozygous mutation in the CALM1 gene on chromosome 14q32.

Description from OMIM:51 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
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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular tachycardia, catecholaminergic polymorphic, 131.0CALM1, DSG2, RYR2
2paroxysmal ventricular fibrillation12.3
3bidirectional tachycardia12.2
4ventricular fibrillation, paroxysmal familial, 211.8
5ventricular fibrillation, familial, 111.7
6calm1-related catecholaminergic polymorphic ventricular tachycardia11.3
7catecholaminergic polymorphic ventricular tachycardia11.3
8ventricular tachycardia, catecholaminergic polymorphic, 211.2
9todd's paralysis9.9CALM1, CALM2
10jervell and lange-nielsen syndrome9.8CALM1, CALM2
11pulmonary embolism9.7
12frontotemporal dementia, right temporal atrophy variant9.7DSG2, RYR2
13carotid stenosis9.7CALM1, CALM2, CALM3
14fixed pigmented erythema9.6DSG2, RYR2
15long qt syndrome 149.6CALM1, CALM2, CALM3
16long qt syndrome 159.6CALM1, CALM2, CALM3
17bleeding disorder, platelet-type, 159.6CALM1, CALM2, CALM3
18porokeratosis9.6CALM1, CALM2, CALM3
19regional ureteric cancer9.6CALM1, CALM2, CALM3
20meningitis9.6CALM1, CALM2, CALM3
21ketamine-induced biliary dilatation9.6DSG2, RYR2
22pseudohypoaldosteronism, type iic9.6CALM1, CALM2, CALM3
23blind hypertensive eye9.6CALM1, CALM2, CALM3
24pontiac fever9.6CALM1, CALM2, CALM3
25childhood brain germinoma9.6CALM1, CALM2, CALM3
26anxiety disorder9.6CALM1, CALM2, CALM3
27usher syndrome9.5DSG2, RYR2
28esophagus leiomyoma9.5CALM1, CALM2, CALM3
29alkhurma hemorrhagic fever9.5CALM1, CALM2, CALM3
30peritoneum cancer9.5CALM1, CALM2, CALM3
31paraurethral gland cancer9.5CALM1, CALM2, CALM3
32sult4a1-related altered drug metabolism9.5CALM1, CALM2, CALM3
33autoimmune disease of skin and connective tissue9.3DSG2, RYR2
34umbilical hernia8.9CALM1, CALM2, CALM3, RYR2
35melancholia8.9CALM1, CALM2, CALM3, RYR2
36cerebral cavernous malformation, familial8.5CALM1, CALM2, CALM3, DSG2, RYR2

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

Human phenotypes related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

 63
id Description HPO Frequency HPO Source Accession
1 syncope63 HP:0001279
2 cardiac arrest63 HP:0001695
3 vertigo63 HP:0002321
4 ventricular tachycardia63 HP:0004756

UMLS symptoms related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:


seizures, syncope, dizziness

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, 426

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:

69
id Symbol AA change Variation ID SNP ID
1CALM1p.Asn54IleVAR_069222rs267607276
2CALM1p.Asn98SerVAR_069223rs398124647

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)SNVPathogenicrs121918597GRCh37Chr 1, 237798237: 237798237
2DSG2NM_001943.4(DSG2): c.166G> A (p.Val56Met)SNVPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
3RYR2NM_001035.2(RYR2): c.527G> A (p.Arg176Gln)SNVPathogenicrs794728708GRCh38Chr 1, 237377386: 237377386
4RYR2NM_001035.2(RYR2): c.7202G> A (p.Arg2401His)SNVLikely pathogenic, Pathogenicrs794728756GRCh37Chr 1, 237804283: 237804283
5CALM1NM_006888.4(CALM1): c.161A> T (p.Asn54Ile)SNVLikely pathogenic, Pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
6CALM1NM_006888.4(CALM1): c.293A> G (p.Asn98Ser)SNVLikely 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 all 46)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.7CALM1, CALM2, CALM3
2
Show member pathways
8.7CALM1, CALM2, CALM3
3
Show member pathways
8.7CALM1, CALM2, CALM3
4
Show member pathways
8.7CALM1, CALM2, CALM3
5
Show member pathways
8.7CALM1, CALM2, CALM3
68.7CALM1, CALM2, CALM3
78.7CALM1, CALM2, CALM3
88.7CALM1, CALM2, CALM3
9
Show member pathways
8.7CALM1, CALM2, CALM3
108.7CALM1, CALM2, CALM3
118.7CALM1, CALM2, CALM3
128.7CALM1, CALM2, CALM3
138.7CALM1, 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
198.7CALM1, CALM2, CALM3
20
Show member pathways
8.7CALM1, CALM2, CALM3
21
Show member pathways
8.7CALM1, CALM2, CALM3
228.7CALM1, CALM2, CALM3
238.7CALM1, CALM2, CALM3
248.7CALM1, CALM2, CALM3
258.7CALM1, CALM2, CALM3
268.7CALM1, CALM2, CALM3
27
Show member pathways
8.7CALM1, CALM2, CALM3
28
Show member pathways
8.7CALM1, 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
38
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2
39
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2
40
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2
418.2CALM1, CALM2, CALM3, RYR2
42
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2
43
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2
44
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2
45
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2
46
Show member pathways
8.2CALM1, CALM2, CALM3, RYR2

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
1spindle microtubuleGO:00058769.3CALM1, CALM2, CALM3
2spindle poleGO:00009229.2CALM1, CALM2, CALM3
3vesicleGO:00319829.1CALM1, CALM2, CALM3
4centrosomeGO:00058139.0CALM1, CALM2, CALM3
5voltage-gated potassium channel complexGO:00080768.9CALM1, CALM2, CALM3
6growth coneGO:00304268.9CALM1, CALM2, CALM3
7sarcomereGO:00300178.9CALM1, CALM2, CALM3, RYR2
8calcium channel complexGO:00347048.8CALM1, CALM2, CALM3, RYR2
9extracellular exosomeGO:00700627.5CALM1, CALM2, CALM3, DSG2, RYR2
10plasma membraneGO:00058867.5CALM1, CALM2, CALM3, DSG2, RYR2

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.4CALM2, CALM3
2regulation of ventricular cardiac muscle cell action potentialGO:00989119.3DSG2, RYR2
3positive regulation of phosphoprotein phosphatase activityGO:00325169.3CALM1, CALM2, CALM3
4positive regulation of cyclic nucleotide metabolic processGO:00308019.3CALM1, CALM2, CALM3
5positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.3CALM1, CALM2, CALM3
6positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.3CALM1, CALM2, CALM3
7inositol phosphate metabolic processGO:00436479.3CALM1, CALM2, CALM3
8regulation of high voltage-gated calcium channel activityGO:19018419.3CALM1, CALM2, CALM3
9positive regulation of protein autophosphorylationGO:00319549.3CALM1, CALM2, CALM3
10regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.3CALM1, CALM2, CALM3
11positive regulation of DNA bindingGO:00433889.3CALM1, CALM2, CALM3
12regulation of cytokinesisGO:00324659.3CALM1, CALM2, CALM3
13positive regulation of peptidyl-threonine phosphorylationGO:00108009.2CALM1, CALM2, CALM3
14negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.2CALM1, CALM2, CALM3
15regulation of rhodopsin mediated signaling pathwayGO:00224009.2CALM1, CALM2, CALM3
16substantia nigra developmentGO:00217629.2CALM1, CALM2, CALM3
17glycogen catabolic processGO:00059809.2CALM1, CALM2, CALM3
18response to corticosteroneGO:00514129.2CALM1, CALM2, CALM3
19platelet degranulationGO:00025769.2CALM1, CALM2, CALM3
20Fc-epsilon receptor signaling pathwayGO:00380959.2CALM1, CALM2, CALM3
21positive regulation of protein serine/threonine kinase activityGO:00719029.2CALM1, CALM2, CALM3
22response to calcium ionGO:00515929.2CALM1, CALM2, CALM3
23Wnt signaling pathway, calcium modulating pathwayGO:00072239.2CALM1, CALM2, CALM3
24positive regulation of protein dephosphorylationGO:00353079.1CALM1, CALM2, CALM3
25G2/M transition of mitotic cell cycleGO:00000869.1CALM1, CALM2, CALM3
26regulation of nitric-oxide synthase activityGO:00509999.1CALM1, CALM2, CALM3
27positive regulation of nitric-oxide synthase activityGO:00510009.1CALM1, CALM2, CALM3
28calcium-mediated signalingGO:00197229.1CALM2, CALM3, RYR2
29negative regulation of peptidyl-threonine phosphorylationGO:00108019.1CALM1, CALM2, CALM3
30MAPK cascadeGO:00001659.0CALM1, CALM2, CALM3
31regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.0CALM1, CALM2, CALM3
32positive regulation of GTPase activityGO:00435478.9CALM1, CALM2, CALM3
33muscle contractionGO:00069368.8CALM1, CALM2, CALM3
34detection of calcium ionGO:00055138.8CALM1, CALM2, CALM3, RYR2
35regulation of cardiac muscle contractionGO:00551178.8CALM1, CALM2, CALM3, RYR2
36activation of adenylate cyclase activityGO:00071908.7CALM1, CALM2, CALM3
37response to amphetamineGO:00019758.7CALM1, CALM2, CALM3
38ion transmembrane transportGO:00342208.6CALM1, CALM2, CALM3, RYR2
39regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.5CALM1, CALM2, CALM3, RYR2
40regulation of heart rateGO:00020278.1CALM1, CALM2, CALM3, RYR2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1protein N-terminus bindingGO:00474859.6CALM2, CALM3
2nitric-oxide synthase regulator activityGO:00302359.3CALM1, CALM2, CALM3
3adenylate cyclase bindingGO:00081799.3CALM1, CALM2, CALM3
4inositol-1,4,5-trisphosphate 3-kinase activityGO:00084409.3CALM1, CALM2, CALM3
5type 3 metabotropic glutamate receptor bindingGO:00318009.3CALM1, CALM2, CALM3
6protein phosphatase activator activityGO:00725429.3CALM1, CALM2, CALM3
7N-terminal myristoylation domain bindingGO:00319979.3CALM1, CALM2, CALM3
8titin bindingGO:00314329.3CALM1, CALM2, CALM3
9thioesterase bindingGO:00319969.3CALM1, CALM2, CALM3
10protein serine/threonine kinase activator activityGO:00435399.2CALM1, CALM2, CALM3
11phosphatidylinositol 3-kinase bindingGO:00435489.1CALM1, CALM2, CALM3
12enzyme regulator activityGO:00302349.1CALM2, CALM3
13phospholipase bindingGO:00432749.1CALM1, CALM2, CALM3
14calcium-dependent protein bindingGO:00483069.0CALM1, CALM2, CALM3
15ligand-gated ion channel activityGO:00152769.0CALM1, CALM2, CALM3
16Ras guanyl-nucleotide exchange factor activityGO:00050889.0CALM1, CALM2, CALM3
17nitric-oxide synthase bindingGO:00509988.9CALM1, CALM2, CALM3
18protein domain specific bindingGO:00199048.7CALM1, CALM2, CALM3
19ion channel bindingGO:00443258.4CALM1, CALM2, CALM3, RYR2
20protein kinase bindingGO:00199018.2CALM1, CALM2, CALM3, RYR2
21calcium ion bindingGO:00055097.2CALM1, CALM2, CALM3, DSG2, RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet