MCID: VNT029
MIFTS: 40

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section

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

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 50 68 25 12
Stress-Induced Polymorphic Ventricular Tachycardia 68
Malignant Paroxysmal Ventricular Tachycardia 68
Double Tachycardia Induced by Catecholamines 68
Multifocal Ventricular Premature Beats 68
Paroxysmal Ventricular Fibrillation 68
 
Syncopal Paroxysmal Tachycardia 68
Bidirectional Tachycardia 68
Syncopal Tachyarythmia 68
Cpvt4 68
Vtsip 68

Characteristics:

HPO:

62
ventricular tachycardia, catecholaminergic polymorphic, 4:
Inheritance: autosomal dominant inheritance
Mortality/Aging: sudden death


Classifications:



External Ids:

OMIM50 614916
MeSH37 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section
UniProtKB/Swiss-Prot:68 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 paroxysmal ventricular fibrillation and bidirectional tachycardia, and has symptoms including dizziness, syncope and syncope. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1), and among its related pathways are Amphetamine addiction and FCERI mediated Ca+2 mobilization.

Description from OMIM:50 614916

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal ventricular fibrillation12.4
2bidirectional tachycardia12.4
3ventricular fibrillation, paroxysmal familial, 211.7
4ventricular fibrillation, familial, 111.5
5calm1-related catecholaminergic polymorphic ventricular tachycardia11.4
6catecholaminergic polymorphic ventricular tachycardia11.4
7ventricular tachycardia, catecholaminergic polymorphic, 211.2
8ventricular tachycardia, catecholaminergic polymorphic, 111.2
9pulmonary embolism9.8
10todd's paralysis9.6CALM1, CALM2
11jervell and lange-nielsen syndrome9.4CALM1, CALM2
12carotid stenosis9.3CALM1, CALM2, CALM3
13long qt syndrome 149.3CALM1, CALM2, CALM3
14long qt syndrome 159.3CALM1, CALM2, CALM3
15bleeding disorder, platelet-type, 159.2CALM1, CALM2, CALM3
16porokeratosis9.2CALM1, CALM2, CALM3
17regional ureteric cancer9.2CALM1, CALM2, CALM3
18meningitis9.2CALM1, CALM2, CALM3
19pseudohypoaldosteronism, type iic9.2CALM1, CALM2, CALM3
20blind hypertensive eye9.2CALM1, CALM2, CALM3
21pontiac fever9.2CALM1, CALM2, CALM3
22childhood brain germinoma9.2CALM1, CALM2, CALM3
23anxiety disorder9.2CALM1, CALM2, CALM3
24esophagus leiomyoma9.2CALM1, CALM2, CALM3
25alkhurma hemorrhagic fever9.1CALM1, CALM2, CALM3
26peritoneum cancer9.1CALM1, CALM2, CALM3
27paraurethral gland cancer9.1CALM1, CALM2, CALM3
28sult4a1-related altered drug metabolism9.1CALM1, CALM2, CALM3
29cerebral cavernous malformation, familial9.1CALM1, CALM2, CALM3
30distal arthrogryposis9.0CALM1, CALM2, CALM3
31umbilical hernia9.0CALM1, CALM2, CALM3
32melancholia8.9CALM1, CALM2, CALM3
33hypersensitivity syndrome, carbamazepine-induced8.9CALM1, CALM2, CALM3

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

About this section

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

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


dizziness, syncope

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section

Interventional clinical trials:

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

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section

Genetic tests related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

id Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 425

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section

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

About this section

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section

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

68
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
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

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

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

About this section

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

(show top 50)    (show all 108)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.5CALM1, CALM2, CALM3
2
Show member pathways
8.5CALM1, CALM2, CALM3
38.5CALM1, CALM2, CALM3
4
Show member pathways
8.5CALM1, CALM2, CALM3
58.5CALM1, CALM2, CALM3
6
Show member pathways
8.5CALM1, CALM2, CALM3
78.5CALM1, CALM2, CALM3
8
Show member pathways
8.5CALM1, CALM2, CALM3
9
Show member pathways
8.5CALM1, CALM2, CALM3
108.5CALM1, CALM2, CALM3
118.5CALM1, 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
25
Show member pathways
8.5CALM1, 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
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
408.5CALM1, CALM2, CALM3
41
Show member pathways
8.5CALM1, CALM2, CALM3
42
Show member pathways
8.5CALM1, CALM2, CALM3
43
Show member pathways
8.5CALM1, CALM2, CALM3
448.5CALM1, CALM2, CALM3
45
Show member pathways
8.5CALM1, CALM2, CALM3
46
Show member pathways
8.5CALM1, CALM2, CALM3
478.5CALM1, CALM2, CALM3
488.5CALM1, CALM2, CALM3
498.5CALM1, CALM2, CALM3
508.5CALM1, CALM2, CALM3

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1calcium channel complexGO:00347049.1CALM1, CALM2, CALM3
2sarcomereGO:00300179.1CALM1, CALM2, CALM3
3spindle microtubuleGO:00058769.0CALM1, CALM2, CALM3
4spindle poleGO:00009228.8CALM1, CALM2, CALM3
5centrosomeGO:00058138.7CALM1, CALM2, CALM3
6voltage-gated potassium channel complexGO:00080768.6CALM1, CALM2, CALM3
7growth coneGO:00304268.5CALM1, CALM2, CALM3
8vesicleGO:00319828.4CALM1, CALM2, CALM3

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:00603149.5CALM2, CALM3
2calcium-mediated signalingGO:00197229.4CALM2, CALM3
3detection of calcium ionGO:00055139.1CALM1, CALM2, CALM3
4positive regulation of phosphoprotein phosphatase activityGO:00325169.1CALM1, CALM2, CALM3
5positive regulation of cyclic nucleotide metabolic processGO:00308019.1CALM1, CALM2, CALM3
6positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.1CALM1, CALM2, CALM3
7positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.1CALM1, CALM2, CALM3
8inositol phosphate metabolic processGO:00436479.1CALM1, CALM2, CALM3
9regulation of high voltage-gated calcium channel activityGO:19018419.1CALM1, CALM2, CALM3
10positive regulation of protein autophosphorylationGO:00319549.1CALM1, CALM2, CALM3
11regulation of cardiac muscle contractionGO:00551179.1CALM1, CALM2, CALM3
12regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.1CALM1, CALM2, CALM3
13positive regulation of DNA bindingGO:00433889.1CALM1, CALM2, CALM3
14regulation of cytokinesisGO:00324659.1CALM1, CALM2, CALM3
15positive regulation of peptidyl-threonine phosphorylationGO:00108009.1CALM1, CALM2, CALM3
16negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.1CALM1, CALM2, CALM3
17regulation of rhodopsin mediated signaling pathwayGO:00224009.1CALM1, CALM2, CALM3
18substantia nigra developmentGO:00217629.1CALM1, CALM2, CALM3
19glycogen catabolic processGO:00059809.1CALM1, CALM2, CALM3
20response to corticosteroneGO:00514129.1CALM1, CALM2, CALM3
21Fc-epsilon receptor signaling pathwayGO:00380959.0CALM1, CALM2, CALM3
22platelet degranulationGO:00025769.0CALM1, CALM2, CALM3
23response to calcium ionGO:00515929.0CALM1, CALM2, CALM3
24Wnt signaling pathway, calcium modulating pathwayGO:00072239.0CALM1, CALM2, CALM3
25positive regulation of protein serine/threonine kinase activityGO:00719029.0CALM1, CALM2, CALM3
26positive regulation of protein dephosphorylationGO:00353079.0CALM1, CALM2, CALM3
27negative regulation of peptidyl-threonine phosphorylationGO:00108018.9CALM1, CALM2, CALM3
28positive regulation of nitric-oxide synthase activityGO:00510008.9CALM1, CALM2, CALM3
29ion transmembrane transportGO:00342208.9CALM1, CALM2, CALM3
30MAPK cascadeGO:00001658.9CALM1, CALM2, CALM3
31regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108808.9CALM1, CALM2, CALM3
32regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.9CALM1, CALM2, CALM3
33G2/M transition of mitotic cell cycleGO:00000868.9CALM1, CALM2, CALM3
34regulation of nitric-oxide synthase activityGO:00509998.9CALM1, CALM2, CALM3
35muscle contractionGO:00069368.8CALM1, CALM2, CALM3
36positive regulation of GTPase activityGO:00435478.7CALM1, CALM2, CALM3
37regulation of heart rateGO:00020278.7CALM1, CALM2, CALM3
38G-protein coupled receptor signaling pathwayGO:00071868.6CALM1, CALM2, CALM3
39activation of adenylate cyclase activityGO:00071908.5CALM1, CALM2, CALM3
40response to amphetamineGO:00019758.2CALM1, CALM2, CALM3

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
2enzyme regulator activityGO:00302349.2CALM2, CALM3
3nitric-oxide synthase regulator activityGO:00302359.1CALM1, CALM2, CALM3
4adenylate cyclase bindingGO:00081799.1CALM1, CALM2, CALM3
5inositol-1,4,5-trisphosphate 3-kinase activityGO:00084409.1CALM1, CALM2, CALM3
6type 3 metabotropic glutamate receptor bindingGO:00318009.1CALM1, CALM2, CALM3
7titin bindingGO:00314329.1CALM1, CALM2, CALM3
8protein phosphatase activator activityGO:00725429.1CALM1, CALM2, CALM3
9N-terminal myristoylation domain bindingGO:00319979.1CALM1, CALM2, CALM3
10thioesterase bindingGO:00319969.1CALM1, CALM2, CALM3
11protein serine/threonine kinase activator activityGO:00435399.1CALM1, CALM2, CALM3
12phosphatidylinositol 3-kinase bindingGO:00435489.0CALM1, CALM2, CALM3
13Ras guanyl-nucleotide exchange factor activityGO:00050888.9CALM1, CALM2, CALM3
14phospholipase bindingGO:00432748.9CALM1, CALM2, CALM3
15calcium-dependent protein bindingGO:00483068.9CALM1, CALM2, CALM3
16ligand-gated ion channel activityGO:00152768.9CALM1, CALM2, CALM3
17ion channel bindingGO:00443258.9CALM1, CALM2, CALM3
18nitric-oxide synthase bindingGO:00509988.8CALM1, CALM2, CALM3
19protein kinase bindingGO:00199018.5CALM1, CALM2, CALM3
20protein domain specific bindingGO:00199048.5CALM1, CALM2, CALM3
21calcium ion bindingGO:00055098.2CALM1, CALM2, CALM3

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet