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

About this section

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

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 52 70 12 68
Catecholaminergic Polymorphic Ventricular Tachycardia 4 11 27
Stress-Induced Polymorphic Ventricular Tachycardia 70 68
Bidirectional Tachycardia 70 68
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 68
Double Tachycardia Induced by Catecholamines 70
Paroxysmal Familial Ventricular Fibrillation 68
Malignant Paroxysmal Ventricular Tachycardia 70
Multifocal Ventricular Premature Beats 70
 
Multifocal Premature Ventricular Beats 68
Paroxysmal Ventricular Fibrillation 70
Syncopal Paroxysmal Tachycardia 70
Syncopal Tachyarythmia 70
Multifocal Pvcs 68
Cpvt4 70
Vtsip 70
Cvpt4 11

Characteristics:

HPO:

64
ventricular tachycardia, catecholaminergic polymorphic, 4:
Inheritance: autosomal dominant inheritance
Mortality/Aging: sudden death

Classifications:



External Ids:

OMIM52 614916
Disease Ontology11 DOID:0060678
ICD1030 I47.2
MeSH39 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section
UniProtKB/Swiss-Prot:70 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 ICos-ICosL Pathway in T-Helper Cell and Dopamine-DARPP32 Feedback onto cAMP Pathway.

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:52 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
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 & Phenotypes for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section

Symptoms by clinical synopsis from OMIM:

614916

Clinical features from OMIM:

614916

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

 64
id Description HPO Frequency HPO Source Accession
1 syncope64 HP:0001279
2 cardiac arrest64 HP:0001695
3 vertigo64 HP:0002321
4 ventricular tachycardia64 HP:0004756

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


seizures, syncope, dizziness

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, 427

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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:

70
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

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 85)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.7CALM1, CALM2, CALM3
28.7CALM1, 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
6
Show member pathways
8.7CALM1, CALM2, CALM3
7
Show member pathways
8.7CALM1, CALM2, CALM3
8
Show member pathways
8.7CALM1, 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
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
19
Show member pathways
8.7CALM1, CALM2, CALM3
20
Show member pathways
8.7CALM1, CALM2, CALM3
21
Show member pathways
8.7CALM1, CALM2, CALM3
22
Show member pathways
8.7CALM1, CALM2, CALM3
23
Show member pathways
8.7CALM1, CALM2, CALM3
24
Show member pathways
8.7CALM1, CALM2, CALM3
25
Show member pathways
8.7CALM1, CALM2, CALM3
26
Show member pathways
8.7CALM1, CALM2, CALM3
27
Show member pathways
8.7CALM1, CALM2, CALM3
28
Show member pathways
8.7CALM1, CALM2, CALM3
29
Show member pathways
8.7CALM1, CALM2, CALM3
30
Show member pathways
8.7CALM1, CALM2, CALM3
31
Show member pathways
8.7CALM1, CALM2, CALM3
32
Show member pathways
8.7CALM1, CALM2, CALM3
33
Show member pathways
8.7CALM1, CALM2, CALM3
34
Show member pathways
8.7CALM1, CALM2, CALM3
35
Show member pathways
8.7CALM1, CALM2, CALM3
36
Show member pathways
8.7CALM1, CALM2, CALM3
37
Show member pathways
8.7CALM1, CALM2, CALM3
38
Show member pathways
8.7CALM1, CALM2, CALM3
39
Show member pathways
8.7CALM1, CALM2, CALM3
408.7CALM1, CALM2, CALM3
418.7CALM1, CALM2, CALM3
428.7CALM1, CALM2, CALM3
438.7CALM1, CALM2, CALM3
44
Show member pathways
8.7CALM1, CALM2, CALM3
45
Show member pathways
8.7CALM1, CALM2, CALM3
468.7CALM1, CALM2, CALM3
478.7CALM1, CALM2, CALM3
488.7CALM1, CALM2, CALM3
49
Show member pathways
8.7CALM1, CALM2, CALM3
508.7CALM1, 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
1centrosomeGO:00058139.5CALM1, CALM2, CALM3
2growth coneGO:00304269.5CALM1, CALM2, CALM3
3spindle microtubuleGO:00058769.3CALM1, CALM2, CALM3
4spindle poleGO:00009229.3CALM1, CALM2, CALM3
5vesicleGO:00319829.2CALM1, CALM2, CALM3
6calcium channel complexGO:00347049.0CALM1, CALM2, CALM3, RYR2
7sarcomereGO:00300178.8CALM1, CALM2, CALM3, RYR2
8voltage-gated potassium channel complexGO:00080768.7CALM1, CALM2, CALM3
9extracellular exosomeGO:00700628.3CALM1, CALM2, CALM3, DSG2, RYR2
10plasma membraneGO:00058868.2CALM1, 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 ventricular cardiac muscle cell action potentialGO:00989119.9DSG2, RYR2
2regulation of ryanodine-sensitive calcium-release channel activityGO:00603149.7CALM2, CALM3
3activation of adenylate cyclase activityGO:00071909.4CALM1, CALM2, CALM3
4Fc-epsilon receptor signaling pathwayGO:00380959.4CALM1, CALM2, CALM3
5G2/M transition of mitotic cell cycleGO:00000869.4CALM1, CALM2, CALM3
6glycogen catabolic processGO:00059809.4CALM1, CALM2, CALM3
7inositol phosphate metabolic processGO:00436479.4CALM1, CALM2, CALM3
8MAPK cascadeGO:00001659.4CALM1, CALM2, CALM3
9muscle contractionGO:00069369.4CALM1, CALM2, CALM3
10negative regulation of peptidyl-threonine phosphorylationGO:00108019.4CALM1, CALM2, CALM3
11negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.4CALM1, CALM2, CALM3
12platelet degranulationGO:00025769.4CALM1, CALM2, CALM3
13positive regulation of cyclic nucleotide metabolic processGO:00308019.4CALM1, CALM2, CALM3
14positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.4CALM1, CALM2, CALM3
15positive regulation of DNA bindingGO:00433889.4CALM1, CALM2, CALM3
16calcium-mediated signalingGO:00197229.4CALM2, CALM3, RYR2
17positive regulation of GTPase activityGO:00435479.3CALM1, CALM2, CALM3
18positive regulation of nitric-oxide synthase activityGO:00510009.3CALM1, CALM2, CALM3
19positive regulation of peptidyl-threonine phosphorylationGO:00108009.3CALM1, CALM2, CALM3
20positive regulation of phosphoprotein phosphatase activityGO:00325169.3CALM1, CALM2, CALM3
21positive regulation of protein autophosphorylationGO:00319549.3CALM1, CALM2, CALM3
22positive regulation of protein dephosphorylationGO:00353079.3CALM1, CALM2, CALM3
23positive regulation of protein serine/threonine kinase activityGO:00719029.3CALM1, CALM2, CALM3
24positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.3CALM1, CALM2, CALM3
25regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.3CALM1, CALM2, CALM3
26regulation of cytokinesisGO:00324659.3CALM1, CALM2, CALM3
27regulation of high voltage-gated calcium channel activityGO:19018419.3CALM1, CALM2, CALM3
28regulation of nitric-oxide synthase activityGO:00509999.3CALM1, CALM2, CALM3
29regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.3CALM1, CALM2, CALM3
30regulation of rhodopsin mediated signaling pathwayGO:00224009.3CALM1, CALM2, CALM3
31response to amphetamineGO:00019759.2CALM1, CALM2, CALM3
32response to calcium ionGO:00515929.2CALM1, CALM2, CALM3
33response to corticosteroneGO:00514129.2CALM1, CALM2, CALM3
34substantia nigra developmentGO:00217629.1CALM1, CALM2, CALM3
35detection of calcium ionGO:00055138.9CALM1, CALM2, CALM3, RYR2
36ion transmembrane transportGO:00342208.9CALM1, CALM2, CALM3, RYR2
37regulation of cardiac muscle contractionGO:00551178.8CALM1, CALM2, CALM3, RYR2
38regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108818.8CALM1, CALM2, CALM3, RYR2
39regulation of heart rateGO:00020278.8CALM1, CALM2, CALM3, RYR2
40Wnt signaling pathway, calcium modulating pathwayGO:00072238.7CALM1, CALM2, CALM3

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1enzyme regulator activityGO:00302349.8CALM2, CALM3
2protein N-terminus bindingGO:00474859.7CALM2, CALM3
3adenylate cyclase bindingGO:00081799.4CALM1, CALM2, CALM3
4calcium-dependent protein bindingGO:00483069.4CALM1, CALM2, CALM3
5inositol-1,4,5-trisphosphate 3-kinase activityGO:00084409.4CALM1, CALM2, CALM3
6ligand-gated ion channel activityGO:00152769.4CALM1, CALM2, CALM3
7N-terminal myristoylation domain bindingGO:00319979.4CALM1, CALM2, CALM3
8nitric-oxide synthase bindingGO:00509989.4CALM1, CALM2, CALM3
9nitric-oxide synthase regulator activityGO:00302359.4CALM1, CALM2, CALM3
10phosphatidylinositol 3-kinase bindingGO:00435489.4CALM1, CALM2, CALM3
11phospholipase bindingGO:00432749.4CALM1, CALM2, CALM3
12protein domain specific bindingGO:00199049.3CALM1, CALM2, CALM3
13protein phosphatase activator activityGO:00725429.2CALM1, CALM2, CALM3
14protein serine/threonine kinase activator activityGO:00435399.2CALM1, CALM2, CALM3
15Ras guanyl-nucleotide exchange factor activityGO:00050889.1CALM1, CALM2, CALM3
16thioesterase bindingGO:00319969.0CALM1, CALM2, CALM3
17ion channel bindingGO:00443258.9CALM1, CALM2, CALM3, RYR2
18protein kinase bindingGO:00199018.8CALM1, CALM2, CALM3, RYR2
19titin bindingGO:00314328.7CALM1, CALM2, CALM3
20type 3 metabotropic glutamate receptor bindingGO:00318008.7CALM1, CALM2, CALM3
21calcium ion bindingGO:00055098.2CALM1, CALM2, CALM3, DSG2, RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet