MCID: VNT029
MIFTS: 27

Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

Categories: Genetic diseases, Cardiovascular 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 54 71 29 13 69
Stress-Induced Polymorphic Ventricular Tachycardia 71 69
Bidirectional Tachycardia 71 69
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 69
Catecholaminergic Polymorphic Ventricular Tachycardia 4 12
Double Tachycardia Induced by Catecholamines 71
Malignant Paroxysmal Ventricular Tachycardia 71
Paroxysmal Familial Ventricular Fibrillation 69
Multifocal Ventricular Premature Beats 71
Multifocal Premature Ventricular Beats 69
Paroxysmal Ventricular Fibrillation 71
Syncopal Paroxysmal Tachycardia 71
Syncopal Tachyarythmia 71
Multifocal Pvcs 69
Cvpt4 12
Cpvt4 71
Vtsip 71

Characteristics:

OMIM:

54
Miscellaneous:
onset within the first decade of life

Inheritance:
autosomal dominant


HPO:

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


Classifications:



Summaries for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

UniProtKB/Swiss-Prot : 71 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 stress-induced polymorphic ventricular tachycardia, 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).

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

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 via clinical synopsis from OMIM:

54

Cardiovascular- Heart:
premature ventricular contractions, including couplets and triplets of variable morphology
prominent u-waves in anterior leads on electrocardiogram
sudden death
cardiac arrest
syncope
more

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:

71
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

GO Terms for Ventricular Tachycardia, Catecholaminergic Polymorphic, 4

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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