CPVT4
MCID: VNT029
MIFTS: 41

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 (CPVT4) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

Name: Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 54 66 13 69
Catecholaminergic Polymorphic Ventricular Tachycardia 4 12 29
Stress-Induced Polymorphic Ventricular Tachycardia 66 69
Bidirectional Tachycardia 66 69
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 69
Double Tachycardia Induced by Catecholamines 66
Malignant Paroxysmal Ventricular Tachycardia 66
Paroxysmal Familial Ventricular Fibrillation 69
Multifocal Ventricular Premature Beats 66
Multifocal Premature Ventricular Beats 69
Paroxysmal Ventricular Fibrillation 66
Syncopal Paroxysmal Tachycardia 66
Syncopal Tachyarythmia 66
Multifocal Pvcs 69
Cvpt4 12
Cpvt4 66
Vtsip 66

Characteristics:

HPO:

32
ventricular tachycardia, catecholaminergic polymorphic, 4:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614916
Disease Ontology 12 DOID:0060678
ICD10 33 I47.2
MeSH 42 D017180

Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

UniProtKB/Swiss-Prot : 66 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 paroxysmal ventricular fibrillation and bidirectional tachycardia, and has symptoms including syncope, vertigo and cardiac arrest. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology.

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.

Description from OMIM: 614916

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, 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 40)
id Related Disease Score Top Affiliating Genes
1 paroxysmal ventricular fibrillation 12.3
2 bidirectional tachycardia 12.2
3 ventricular fibrillation, paroxysmal familial, 2 11.8
4 ventricular fibrillation, familial, 1 11.7
5 calm1-related catecholaminergic polymorphic ventricular tachycardia 11.3
6 catecholaminergic polymorphic ventricular tachycardia 11.3
7 ventricular tachycardia, catecholaminergic polymorphic, 2 11.2
8 ventricular tachycardia, catecholaminergic polymorphic, 1 11.2
9 encephalomalacia 10.0 CALM1 CALM3
10 microphthalmia with limb anomalies 9.9 CALM1 CALM2 CALM3
11 subclavian steal syndrome 9.9 CALM1 CALM2 CALM3
12 leukemia, acute lymphoblastic 2 9.9 CALM1 CALM2 CALM3
13 short stature with microcephaly and distinctive facies 9.9 CALM1 CALM2 CALM3
14 neuropathy, hereditary sensory and autonomic, type ii 9.9 CALM1 CALM2 CALM3
15 dumping syndrome 9.9 CALM1 CALM2 CALM3
16 arthropathy 9.9 CALM1 CALM2 CALM3
17 chronic dacryoadenitis 9.9 CALM1 CALM2 CALM3
18 retinitis pigmentosa 20 9.9 CALM1 CALM2 CALM3
19 regular astigmatism 9.9 CALM1 CALM2 CALM3
20 aspiration pneumonia 9.8 CALM1 CALM2 CALM3
21 familial sick sinus syndrome 9.8 CALM1 CALM2 CALM3
22 fibular hemimelia, bilateral 9.8 DSG2 RYR2
23 pervasive developmental disorder 9.8 DSG2 RYR2
24 lipodystrophy, familial partial, 2 9.8 CALM1 CALM2 CALM3
25 ciliary dyskinesia, primary, 11 9.8 CALM1 CALM2 CALM3
26 deafness, autosomal dominant 2a 9.8 CALM1 CALM2 CALM3
27 congenital hypothyroidism 9.8 CALM1 CALM2 CALM3
28 spastic paraplegia 47, autosomal recessive 9.8 CALM1 DSG2 RYR2
29 distal arthrogryposis 9.8 CALM1 CALM2 CALM3
30 arrhythmogenic right ventricular dysplasia 2 9.8 CALM1 DSG2 RYR2
31 fibular hemimelia, unilateral 9.8 DSG2 RYR2
32 partial of retinal vein occlusion 9.8 CALM1 CALM2 CALM3
33 neurofibroma 9.8 CALM1 CALM2 CALM3
34 congenital absence of upper arm and forearm with hand present, bilateral 9.7 DSG2 RYR2
35 pulmonary embolism 9.7
36 mastoiditis 9.7 CALM1 CALM2 CALM3 RYR2
37 atrial fibrillation, familial, 3 9.7 CALM1 CALM2 CALM3 RYR2
38 hyperthyroxinemia 9.7 CALM1 CALM2 CALM3 RYR2
39 bleeding disorder, platelet-type, 15 9.4 CALM1 CALM2 CALM3 DSG2 RYR2
40 autosomal dominant nocturnal frontal lobe epilepsy 2 9.4 CALM1 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

Symptoms by clinical synopsis from OMIM:

614916

Clinical features from OMIM:

614916

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

32
id Description HPO Frequency HPO Source Accession
1 syncope 32 HP:0001279
2 vertigo 32 HP:0002321
3 cardiac arrest 32 HP:0001695
4 ventricular tachycardia 32 HP:0004756

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:

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

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Publications for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Variations for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

66
id Symbol AA change Variation ID SNP ID
1 CALM1 p.Asn54Ile VAR_069222 rs267607276
2 CALM1 p.Asn98Ser VAR_078541 rs398124647

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CALM1 NM_006888.4(CALM1): c.161A> T (p.Asn54Ile) single nucleotide variant Pathogenic/Likely pathogenic rs267607276 GRCh37 Chromosome 14, 90867729: 90867729
2 CALM1 NM_006888.4(CALM1): c.293A> G (p.Asn98Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607277 GRCh37 Chromosome 14, 90870730: 90870730

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:

(show top 50) (show all 105)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 CALM1 CALM2 CALM3 RYR2
2
Show member pathways
13.29 CALM1 CALM2 CALM3 DSG2
3
Show member pathways
13.19 CALM1 CALM2 CALM3 RYR2
4
Show member pathways
13.14 CALM1 CALM2 CALM3 RYR2
5
Show member pathways
12.93 CALM1 CALM2 CALM3 RYR2
6
Show member pathways
12.81 CALM1 CALM2 CALM3
7
Show member pathways
12.76 CALM1 CALM2 CALM3 RYR2
8
Show member pathways
12.74 CALM1 CALM2 CALM3
9
Show member pathways
12.73 CALM1 CALM2 CALM3
10
Show member pathways
12.72 CALM1 CALM2 CALM3
11
Show member pathways
12.72 CALM1 CALM2 CALM3
12
Show member pathways
12.72 CALM1 CALM2 CALM3
13
Show member pathways
12.72 CALM1 CALM2 CALM3 RYR2
14
Show member pathways
12.7 CALM1 CALM2 CALM3
15
Show member pathways
12.7 CALM1 CALM2 CALM3
16
Show member pathways
12.69 CALM1 CALM2 CALM3
17
Show member pathways
12.67 CALM1 CALM2 CALM3
18
Show member pathways
12.64 CALM1 CALM2 CALM3
19
Show member pathways
12.63 CALM1 CALM2 CALM3
20
Show member pathways
12.63 CALM1 CALM2 CALM3 RYR2
21
Show member pathways
12.58 CALM1 CALM2 CALM3
22
Show member pathways
12.58 CALM1 CALM2 CALM3
23
Show member pathways
12.56 CALM1 CALM2 CALM3
24
Show member pathways
12.53 CALM1 CALM2 CALM3
25
Show member pathways
12.52 CALM1 CALM2 CALM3
26
Show member pathways
12.5 CALM1 CALM2 CALM3
27
Show member pathways
12.5 CALM1 CALM2 CALM3
28
Show member pathways
12.47 CALM1 CALM2 CALM3
29
Show member pathways
12.46 CALM1 CALM2 CALM3
30
Show member pathways
12.45 CALM1 CALM2 CALM3
31
Show member pathways
12.43 CALM1 CALM2 CALM3
32
Show member pathways
12.4 CALM1 CALM2 CALM3
33
Show member pathways
12.39 CALM1 CALM2 CALM3 RYR2
34
Show member pathways
12.38 CALM1 CALM2 CALM3 RYR2
35
Show member pathways
12.35 CALM1 CALM2 CALM3 RYR2
36
Show member pathways
12.34 CALM1 CALM2 CALM3
37
Show member pathways
12.33 CALM1 CALM2 CALM3
38
Show member pathways
12.32 CALM1 CALM2 CALM3
39
Show member pathways
12.31 CALM1 CALM2 CALM3
40
Show member pathways
12.3 CALM1 CALM2 CALM3
41
Show member pathways
12.29 CALM1 CALM2 CALM3
42
Show member pathways
12.28 CALM1 CALM2 CALM3
43 12.27 CALM1 CALM2 CALM3
44
Show member pathways
12.27 CALM1 CALM2 CALM3 RYR2
45
Show member pathways
12.26 CALM1 CALM2 CALM3
46
Show member pathways
12.25 CALM1 CALM2 CALM3
47
Show member pathways
12.25 CALM1 CALM2 CALM3
48
Show member pathways
12.23 CALM1 CALM2 CALM3
49
Show member pathways
12.23 CALM1 CALM2 CALM3
50
Show member pathways
12.22 CALM1 CALM2 CALM3

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 CALM1 CALM2 CALM3 DSG2 RYR2
2 centrosome GO:0005813 9.61 CALM1 CALM2 CALM3
3 spindle GO:0005819 9.54 CALM1 CALM2 CALM3
4 vesicle GO:0031982 9.5 CALM1 CALM2 CALM3
5 spindle pole GO:0000922 9.43 CALM1 CALM2 CALM3
6 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
7 sarcomere GO:0030017 9.26 CALM1 CALM2 CALM3 RYR2
8 calcium channel complex GO:0034704 8.92 CALM1 CALM2 CALM3 RYR2

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

(show all 32)
id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.92 CALM1 CALM2 CALM3 RYR2
2 positive regulation of GTPase activity GO:0043547 9.83 CALM1 CALM2 CALM3
3 Fc-epsilon receptor signaling pathway GO:0038095 9.82 CALM1 CALM2 CALM3
4 platelet degranulation GO:0002576 9.81 CALM1 CALM2 CALM3
5 muscle contraction GO:0006936 9.81 CALM1 CALM2 CALM3
6 response to calcium ion GO:0051592 9.8 CALM1 CALM2 CALM3
7 inositol phosphate metabolic process GO:0043647 9.79 CALM1 CALM2 CALM3
8 substantia nigra development GO:0021762 9.79 CALM1 CALM2 CALM3
9 protein methylation GO:0006479 9.78 CALM1 CALM2 CALM3
10 positive regulation of protein serine/threonine kinase activity GO:0071902 9.77 CALM1 CALM2 CALM3
11 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.77 CALM1 CALM2 CALM3
12 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.76 CALM1 CALM2 CALM3
13 regulation of rhodopsin mediated signaling pathway GO:0022400 9.75 CALM1 CALM2 CALM3
14 regulation of nitric-oxide synthase activity GO:0050999 9.74 CALM1 CALM2 CALM3
15 positive regulation of protein autophosphorylation GO:0031954 9.73 CALM1 CALM2 CALM3
16 regulation of cytokinesis GO:0032465 9.72 CALM1 CALM2 CALM3
17 positive regulation of protein dephosphorylation GO:0035307 9.71 CALM1 CALM2 CALM3
18 glycogen catabolic process GO:0005980 9.7 CALM1 CALM2 CALM3
19 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.69 CALM1 CALM2 CALM3
20 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.67 CALM1 CALM2 CALM3
21 calcium-mediated signaling GO:0019722 9.65 CALM1 RYR2
22 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.65 CALM1 CALM2 CALM3
23 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.64 DSG2 RYR2
24 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.63 CALM1 CALM2 CALM3
25 regulation of heart rate GO:0002027 9.62 CALM1 CALM2 CALM3 RYR2
26 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.61 CALM1 CALM2 CALM3
27 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.58 CALM1 CALM2 CALM3
28 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.54 CALM1 CALM2 CALM3
29 regulation of cardiac muscle contraction GO:0055117 9.46 CALM1 CALM2 CALM3 RYR2
30 positive regulation of cyclic nucleotide metabolic process GO:0030801 9.43 CALM1 CALM2 CALM3
31 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.26 CALM1 CALM2 CALM3 RYR2
32 detection of calcium ion GO:0005513 8.92 CALM1 CALM2 CALM3 RYR2

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.85 CALM1 CALM2 CALM3 DSG2 RYR2
2 protein kinase binding GO:0019901 9.8 CALM1 CALM2 CALM3 RYR2
3 protein domain specific binding GO:0019904 9.7 CALM1 CALM2 CALM3
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.69 CALM1 CALM2 CALM3
5 ion channel binding GO:0044325 9.67 CALM1 CALM2 CALM3 RYR2
6 ligand-gated ion channel activity GO:0015276 9.65 CALM1 CALM2 CALM3
7 protein serine/threonine kinase activator activity GO:0043539 9.61 CALM1 CALM2 CALM3
8 phospholipase binding GO:0043274 9.58 CALM1 CALM2 CALM3
9 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
10 thioesterase binding GO:0031996 9.43 CALM1 CALM2 CALM3
11 inositol-1,4,5-trisphosphate 3-kinase activity GO:0008440 9.33 CALM1 CALM2 CALM3
12 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
13 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....