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

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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

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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. 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 seizures, syncope and seizures. An important gene associated with Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 is CALM1 (Calmodulin 1), and among its related pathways are Endothelin Pathways and Physiological and Pathological Hypertrophy of the Heart.

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

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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 40)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal ventricular fibrillation12.3
2bidirectional tachycardia12.2
3ventricular fibrillation, paroxysmal familial, 211.8
4ventricular fibrillation, familial, 111.7
5calm1-related catecholaminergic polymorphic ventricular tachycardia11.3
6catecholaminergic polymorphic ventricular tachycardia11.3
7ventricular tachycardia, catecholaminergic polymorphic, 211.2
8ventricular tachycardia, catecholaminergic polymorphic, 111.2
9encephalomalacia10.0CALM1, CALM3
10microphthalmia with limb anomalies9.9CALM1, CALM2, CALM3
11subclavian steal syndrome9.9CALM1, CALM2, CALM3
12leukemia, acute lymphoblastic 29.9CALM1, CALM2, CALM3
13short stature with microcephaly and distinctive facies9.9CALM1, CALM2, CALM3
14neuropathy, hereditary sensory and autonomic, type ii9.9CALM1, CALM2, CALM3
15dumping syndrome9.9CALM1, CALM2, CALM3
16arthropathy9.9CALM1, CALM2, CALM3
17chronic dacryoadenitis9.9CALM1, CALM2, CALM3
18retinitis pigmentosa 209.9CALM1, CALM2, CALM3
19regular astigmatism9.9CALM1, CALM2, CALM3
20aspiration pneumonia9.8CALM1, CALM2, CALM3
21familial sick sinus syndrome9.8CALM1, CALM2, CALM3
22fibular hemimelia, bilateral9.8DSG2, RYR2
23pervasive developmental disorder9.8DSG2, RYR2
24lipodystrophy, familial partial, 29.8CALM1, CALM2, CALM3
25ciliary dyskinesia, primary, 119.8CALM1, CALM2, CALM3
26deafness, autosomal dominant 2a9.8CALM1, CALM2, CALM3
27congenital hypothyroidism9.8CALM1, CALM2, CALM3
28spastic paraplegia 47, autosomal recessive9.8CALM1, DSG2, RYR2
29distal arthrogryposis9.8CALM1, CALM2, CALM3
30arrhythmogenic right ventricular dysplasia 29.8CALM1, DSG2, RYR2
31fibular hemimelia, unilateral9.8DSG2, RYR2
32partial of retinal vein occlusion9.8CALM1, CALM2, CALM3
33neurofibroma9.8CALM1, CALM2, CALM3
34congenital absence of upper arm and forearm with hand present, bilateral9.7DSG2, RYR2
35pulmonary embolism9.7
36mastoiditis9.7CALM1, CALM2, CALM3, RYR2
37atrial fibrillation, familial, 39.7CALM1, CALM2, CALM3, RYR2
38hyperthyroxinemia9.7CALM1, CALM2, CALM3, RYR2
39bleeding disorder, platelet-type, 159.4CALM1, CALM2, CALM3, DSG2, RYR2
40autosomal dominant nocturnal frontal lobe epilepsy 29.4CALM1, 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

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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:

 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

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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, 427

Anatomical Context for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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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:

70
id Symbol AA change Variation ID SNP ID
1CALM1p.Asn54IleVAR_069222rs267607276
2CALM1p.Asn98SerVAR_078541rs398124647

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)SNVPathogenic/ Likely pathogenicrs267607276GRCh37Chr 14, 90867729: 90867729
2CALM1NM_ 006888.4(CALM1): c.293A> G (p.Asn98Ser)SNVPathogenic/ Likely 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 top 50)    (show all 105)
idSuper pathwaysScoreTop Affiliating Genes
19.5CALM1, CALM2
29.5CALM1, CALM2
39.5CALM1, CALM2
49.5CALM1, CALM2
59.5CALM1, CALM2
69.5CALM1, CALM2
7
Show member pathways
8.9CALM1, CALM2, CALM3
8
Show member pathways
8.9CALM1, CALM2, CALM3
9
Show member pathways
8.9CALM1, CALM2, CALM3
10
Show member pathways
8.9CALM1, CALM2, CALM3
11
Show member pathways
8.9CALM1, CALM2, CALM3
12
Show member pathways
8.9CALM1, CALM2, CALM3
13
Show member pathways
8.9CALM1, CALM2, CALM3
14
Show member pathways
8.9CALM1, CALM2, CALM3
158.9CALM1, CALM2, CALM3
16
Show member pathways
8.9CALM1, CALM2, CALM3
17
Show member pathways
8.9CALM1, CALM2, CALM3
188.9CALM1, CALM2, CALM3
19
Show member pathways
8.9CALM1, CALM2, CALM3
20
Show member pathways
8.9CALM1, CALM2, CALM3
21
Show member pathways
8.9CALM1, CALM2, CALM3
22
Show member pathways
8.9CALM1, CALM2, CALM3
23
Show member pathways
8.9CALM1, CALM2, CALM3
24
Show member pathways
8.9CALM1, CALM2, CALM3
25
Show member pathways
8.9CALM1, CALM2, CALM3
26
Show member pathways
8.9CALM1, CALM2, CALM3
27
Show member pathways
8.9CALM1, CALM2, CALM3
28
Show member pathways
8.9CALM1, CALM2, CALM3
29
Show member pathways
8.9CALM1, CALM2, CALM3
30
Show member pathways
8.9CALM1, CALM2, CALM3
31
Show member pathways
8.9CALM1, CALM2, CALM3
32
Show member pathways
8.9CALM1, CALM2, CALM3
33
Show member pathways
8.9CALM1, CALM2, CALM3
34
Show member pathways
8.9CALM1, CALM2, CALM3
35
Show member pathways
8.9CALM1, CALM2, CALM3
36
Show member pathways
8.9CALM1, CALM2, CALM3
37
Show member pathways
8.9CALM1, CALM2, CALM3
38
Show member pathways
8.9CALM1, CALM2, CALM3
39
Show member pathways
8.9CALM1, CALM2, CALM3
40
Show member pathways
8.9CALM1, CALM2, CALM3
41
Show member pathways
8.9CALM1, CALM2, CALM3
42
Show member pathways
8.9CALM1, CALM2, CALM3
43
Show member pathways
8.9CALM1, CALM2, CALM3
44
Show member pathways
8.9CALM1, CALM2, CALM3
45
Show member pathways
8.9CALM1, CALM2, CALM3
46
Show member pathways
8.9CALM1, CALM2, CALM3
47
Show member pathways
8.9CALM1, CALM2, CALM3
48
Show member pathways
8.9CALM1, CALM2, CALM3
49
Show member pathways
8.9CALM1, CALM2, CALM3
50
Show member pathways
8.9CALM1, CALM2, CALM3

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
1centrosomeGO:00058139.6CALM1, CALM2, CALM3
2spindleGO:00058199.5CALM1, CALM2, CALM3
3spindle microtubuleGO:00058769.5CALM1, CALM2, CALM3
4spindle poleGO:00009229.4CALM1, CALM2, CALM3
5calcium channel complexGO:00347049.1CALM1, CALM2, CALM3, RYR2
6sarcomereGO:00300179.0CALM1, CALM2, CALM3, RYR2
7vesicleGO:00319828.9CALM1, CALM2, CALM3
8extracellular exosomeGO:00700628.2CALM1, CALM2, CALM3, DSG2, RYR2

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1calcium-mediated signalingGO:001972210.2CALM1, RYR2
2regulation of ventricular cardiac muscle cell action potentialGO:00989119.7DSG2, RYR2
3Fc-epsilon receptor signaling pathwayGO:00380959.6CALM1, CALM2, CALM3
4glycogen catabolic processGO:00059809.6CALM1, CALM2, CALM3
5inositol phosphate metabolic processGO:00436479.6CALM1, CALM2, CALM3
6muscle contractionGO:00069369.6CALM1, CALM2, CALM3
7negative regulation of peptidyl-threonine phosphorylationGO:00108019.6CALM1, CALM2, CALM3
8negative regulation of ryanodine-sensitive calcium-release channel activityGO:00603159.6CALM1, CALM2, CALM3
9platelet degranulationGO:00025769.6CALM1, CALM2, CALM3
10positive regulation of cyclic nucleotide metabolic processGO:00308019.6CALM1, CALM2, CALM3
11positive regulation of cyclic-nucleotide phosphodiesterase activityGO:00513439.6CALM1, CALM2, CALM3
12positive regulation of GTPase activityGO:00435479.5CALM1, CALM2, CALM3
13positive regulation of peptidyl-threonine phosphorylationGO:00108009.5CALM1, CALM2, CALM3
14positive regulation of phosphoprotein phosphatase activityGO:00325169.5CALM1, CALM2, CALM3
15positive regulation of protein autophosphorylationGO:00319549.5CALM1, CALM2, CALM3
16positive regulation of protein dephosphorylationGO:00353079.5CALM1, CALM2, CALM3
17positive regulation of protein serine/threonine kinase activityGO:00719029.5CALM1, CALM2, CALM3
18positive regulation of ryanodine-sensitive calcium-release channel activityGO:00603169.5CALM1, CALM2, CALM3
19protein methylationGO:00064799.5CALM1, CALM2, CALM3
20regulation of cell communication by electrical coupling involved in cardiac conductionGO:19018449.5CALM1, CALM2, CALM3
21regulation of cytokinesisGO:00324659.5CALM1, CALM2, CALM3
22regulation of nitric-oxide synthase activityGO:00509999.5CALM1, CALM2, CALM3
23regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:00108809.5CALM1, CALM2, CALM3
24regulation of rhodopsin mediated signaling pathwayGO:00224009.4CALM1, CALM2, CALM3
25response to calcium ionGO:00515929.4CALM1, CALM2, CALM3
26substantia nigra developmentGO:00217629.3CALM1, CALM2, CALM3
27detection of calcium ionGO:00055139.1CALM1, CALM2, CALM3, RYR2
28ion transmembrane transportGO:00342209.1CALM1, CALM2, CALM3, RYR2
29regulation of cardiac muscle contractionGO:00551179.0CALM1, CALM2, CALM3, RYR2
30regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:00108819.0CALM1, CALM2, CALM3, RYR2
31regulation of heart rateGO:00020278.9CALM1, CALM2, CALM3, RYR2
32Wnt signaling pathway, calcium modulating pathwayGO:00072238.9CALM1, CALM2, CALM3

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1inositol-1,4,5-trisphosphate 3-kinase activityGO:00084409.6CALM1, CALM2, CALM3
2ligand-gated ion channel activityGO:00152769.6CALM1, CALM2, CALM3
3N-terminal myristoylation domain bindingGO:00319979.6CALM1, CALM2, CALM3
4phospholipase bindingGO:00432749.6CALM1, CALM2, CALM3
5protein domain specific bindingGO:00199049.5CALM1, CALM2, CALM3
6protein phosphatase activator activityGO:00725429.4CALM1, CALM2, CALM3
7protein serine/threonine kinase activator activityGO:00435399.4CALM1, CALM2, CALM3
8Ras guanyl-nucleotide exchange factor activityGO:00050889.3CALM1, CALM2, CALM3
9thioesterase bindingGO:00319969.2CALM1, CALM2, CALM3
10ion channel bindingGO:00443259.0CALM1, CALM2, CALM3, RYR2
11protein kinase bindingGO:00199018.9CALM1, CALM2, CALM3, RYR2
12titin bindingGO:00314328.9CALM1, CALM2, CALM3
13calcium ion bindingGO:00055098.2CALM1, CALM2, CALM3, DSG2, RYR2

Sources for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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