CPVT4
MCID: VNT029
MIFTS: 33

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 (CPVT4)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

MalaCards integrated aliases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 56 73 29 13 6 71
Catecholaminergic Polymorphic Ventricular Tachycardia 4 12 15
Stress-Induced Polymorphic Ventricular Tachycardia 73 71
Bidirectional Tachycardia 73 71
Cpvt4 56 73
Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4 39
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 71
Double Tachycardia Induced by Catecholamines 73
Malignant Paroxysmal Ventricular Tachycardia 73
Paroxysmal Familial Ventricular Fibrillation 71
Multifocal Ventricular Premature Beats 73
Multifocal Premature Ventricular Beats 71
Paroxysmal Ventricular Fibrillation 73
Syncopal Paroxysmal Tachycardia 73
Syncopal Tachyarythmia 73
Multifocal Pvcs 71
Vtsip 73
Cvpt4 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset within the first decade of life


HPO:

31
ventricular tachycardia, catecholaminergic polymorphic, 4:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060678
OMIM 56 614916
OMIM Phenotypic Series 56 PS604772
MeSH 43 D017180
ICD10 32 I47.2
UMLS 71 C0264903 C0340493 C1631597 more

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

UniProtKB/Swiss-Prot : 73 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. CPVT4 inheritance is autosomal dominant.

MalaCards based summary : Ventricular Tachycardia, Catecholaminergic Polymorphic, 4, also known as catecholaminergic polymorphic ventricular tachycardia 4, is related to catecholaminergic polymorphic ventricular tachycardia and ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy, and has symptoms including seizures, syncope and dizziness. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are vertigo and syncope

Disease Ontology : 12 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.

More information from OMIM: 614916 PS604772

Related Diseases for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Diseases in the Catecholaminergic Polymorphic Ventricular Tachycardia family:

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 Catecholaminergic Polymorphic Ventricular Tachycardia 5

Diseases related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 catecholaminergic polymorphic ventricular tachycardia 31.8 KCNQ1 CALM1
2 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 31.5 KCNQ1 CALM1
3 long qt syndrome 1 29.6 KCNQ1 CALM1
4 cardiac arrest 28.9 KCNQ1 CALM1
5 bidirectional tachycardia 12.7
6 paroxysmal ventricular fibrillation 12.7
7 ventricular fibrillation, paroxysmal familial, 2 12.1
8 idiopathic ventricular fibrillation, non brugada type 11.5
9 ventricular tachycardia, catecholaminergic polymorphic, 2 11.5
10 arrhythmogenic right ventricular dysplasia, familial, 2 10.2
11 arrhythmogenic right ventricular cardiomyopathy 10.2
12 syncope 10.2
13 ventricular fibrillation, paroxysmal familial, 1 10.1
14 progressive familial heart block, type ia 10.0
15 jervell and lange-nielsen syndrome 1 10.0
16 visual epilepsy 10.0
17 measles 10.0
18 seizure disorder 10.0
19 hypokalemic periodic paralysis, type 1 9.9
20 progressive familial heart block, type ib 9.9
21 orthostatic intolerance 9.9
22 left bundle branch hemiblock 9.9
23 right bundle branch block 9.9
24 enthesopathy 9.9
25 aortic aneurysm 9.9
26 pulmonary embolism 9.9
27 aneurysm 9.9
28 periodic paralysis 9.9
29 digitalis poisoning 9.9
30 long qt syndrome 14 9.6 KCNQ1 CALM1
31 long qt syndrome 9.6 KCNQ1 CALM1
32 long qt syndrome 2 9.5 KCNQ1 CALM1
33 brugada syndrome 9.2 KCNQ1 CALM1

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

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

31
# Description HPO Frequency HPO Source Accession
1 vertigo 31 HP:0002321
2 syncope 31 HP:0001279
3 ventricular tachycardia 31 HP:0004756
4 cardiac arrest 31 HP:0001695

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
syncope
cardiac arrest
sudden death
dizziness
polymorphic ventricular tachycardia induced by physical activity or stress
more

Clinical features from OMIM:

614916

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


seizures, syncope, dizziness

Drugs & Therapeutics for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

Genetic Tests for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

# Genetic test Affiliating Genes
1 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 29 CALM1

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

MalaCards organs/tissues related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

40
Heart

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Articles related to Ventricular Tachycardia, Catecholaminergic Polymorphic, 4:

# Title Authors PMID Year
1
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. 56 6
23040497 2012
2
Catecholaminergic Polymorphic Ventricular Tachycardia 6
20301466 2004
3
Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype. 61
29452352 2018
4
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias. 61
15131021 2004
5
The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. 61
12459180 2002
6
Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. 61
10588221 1999

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CALM1 NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)SNV Pathogenic 639902 14:90870831-90870831 14:90404487-90404487
2 CALM1 NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)SNV Pathogenic/Likely pathogenic 39757 rs267607276 14:90867729-90867729 14:90401385-90401385
3 CALM1 NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)SNV Pathogenic/Likely pathogenic 39758 rs267607277 14:90870730-90870730 14:90404386-90404386
4 CALM1 NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)SNV Likely pathogenic 542137 rs1555366045 14:90870835-90870835 14:90404491-90404491
5 CALM1 NM_006888.6(CALM1):c.72C>T (p.Gly24=)SNV Conflicting interpretations of pathogenicity 162063 rs267607278 14:90867640-90867640 14:90401296-90401296
6 CALM1 NM_006888.6(CALM1):c.78C>T (p.Gly26=)SNV Uncertain significance 475383 rs1555365884 14:90867646-90867646 14:90401302-90401302
7 CALM1 NM_006888.6(CALM1):c.157A>G (p.Ile53Val)SNV Uncertain significance 475380 rs1555365887 14:90867725-90867725 14:90401381-90401381
8 CALM1 NM_006888.6(CALM1):c.106G>C (p.Val36Leu)SNV Uncertain significance 845207 14:90867674-90867674 14:90401330-90401330
9 CALM1 NM_006888.6(CALM1):c.301A>G (p.Ile101Val)SNV Uncertain significance 644229 14:90870738-90870738 14:90404394-90404394
10 CALM1 NM_006888.6(CALM1):c.69T>C (p.Asp23=)SNV Likely benign 475382 rs144339242 14:90867637-90867637 14:90401293-90401293
11 CALM1 NM_006888.6(CALM1):c.273A>G (p.Arg91=)SNV Likely benign 542138 rs1211887414 14:90870300-90870300 14:90403956-90403956
12 CALM1 NM_006888.6(CALM1):c.411C>G (p.Val137=)SNV Likely benign 542139 rs749827346 14:90870848-90870848 14:90404504-90404504
13 CALM1 NM_006888.6(CALM1):c.324C>T (p.His108=)SNV Likely benign 389896 rs139706811 14:90870761-90870761 14:90404417-90404417
14 CALM1 NM_006888.6(CALM1):c.4-10C>GSNV Benign/Likely benign 389903 rs191723671 14:90866399-90866399 14:90400055-90400055
15 CALM1 NM_006888.6(CALM1):c.303C>T (p.Ile101=)SNV Benign/Likely benign 475381 rs143503733 14:90870740-90870740 14:90404396-90404396

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

73
# Symbol AA change Variation ID SNP ID
1 CALM1 p.Asn54Ile VAR_069222 rs267607276
2 CALM1 p.Asn98Ser VAR_078541 rs398124647

Expression for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

Pathways for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 KCNQ1 CALM1
2
Show member pathways
12.1 KCNQ1 CALM1
3
Show member pathways
11.99 KCNQ1 CALM1
4
Show member pathways
11.76 KCNQ1 CALM1
5 11.51 KCNQ1 CALM1
6
Show member pathways
11.18 KCNQ1 CALM1
7
Show member pathways
10.5 KCNQ1 CALM1

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 8.62 KCNQ1 CALM1

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 KCNQ1 CALM1

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....