MCID: VNT032
MIFTS: 26

Ventricular Tachycardia, Familial

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Tachycardia, Familial

MalaCards integrated aliases for Ventricular Tachycardia, Familial:

Name: Ventricular Tachycardia, Familial 57
Familial Ventricular Tachycardia 76 53 29 73
Ventricular Tachycardia, Familial Polymorphic 57 55
Ventricular Tachycardia, Idiopathic 57 13
Tachycardia, Ventricular, Familial 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ventricular tachycardia, familial:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 192605
MedGen 42 C0340485
SNOMED-CT via HPO 69 263681008 95281009 66657009
UMLS 73 C0340485

Summaries for Ventricular Tachycardia, Familial

MalaCards based summary : Ventricular Tachycardia, Familial, also known as familial ventricular tachycardia, is related to catecholaminergic polymorphic ventricular tachycardia and giant cell myocarditis. An important gene associated with Ventricular Tachycardia, Familial is GNAI2 (G Protein Subunit Alpha I2), and among its related pathways/superpathways are DAG and IP3 signaling and Circadian entrainment. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and abnormality of metabolism/homeostasis

Wikipedia : 76 Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disorder that predisposes... more...

Description from OMIM: 192605

Related Diseases for Ventricular Tachycardia, Familial

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

# Related Disease Score Top Affiliating Genes
1 catecholaminergic polymorphic ventricular tachycardia 11.6
2 giant cell myocarditis 9.8

Symptoms & Phenotypes for Ventricular Tachycardia, Familial

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
sudden cardiac death
paroxysmal ventricular tachycardia
right bundle branch block with left axis deviation on ekg
no cardiomyopathy
no repolarization abnormality

Metabolic:
no metabolic disorder


Clinical features from OMIM:

192605

Human phenotypes related to Ventricular Tachycardia, Familial:

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 paroxysmal ventricular tachycardia 32 HP:0004751

GenomeRNAi Phenotypes related to Ventricular Tachycardia, Familial according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.4 GNAI2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.4 GNAI2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.4 RYR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.4 GNAI2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.4 RYR2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.4 GNAI2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.4 RYR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.4 RYR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 GNAI2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.4 RYR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.4 GNAI2 RYR2

MGI Mouse Phenotypes related to Ventricular Tachycardia, Familial:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 GNAI2 RYR2

Drugs & Therapeutics for Ventricular Tachycardia, Familial

Search Clinical Trials , NIH Clinical Center for Ventricular Tachycardia, Familial

Genetic Tests for Ventricular Tachycardia, Familial

Genetic tests related to Ventricular Tachycardia, Familial:

# Genetic test Affiliating Genes
1 Familial Ventricular Tachycardia 29 GNAI2

Anatomical Context for Ventricular Tachycardia, Familial

MalaCards organs/tissues related to Ventricular Tachycardia, Familial:

41
Heart

Publications for Ventricular Tachycardia, Familial

Articles related to Ventricular Tachycardia, Familial:

# Title Authors Year
1
Images in cardiology: familial ventricular tachycardia with mild ventricular dysfunction: a 15 year follow up of two African American brothers with arrhythmogenic right ventricular dysplasia. ( 11083749 )
2000
2
A case of familial ventricular tachycardia. ( 7602753 )
1995
3
Familial ventricular tachycardia: a report of four families. ( 2328167 )
1990

Variations for Ventricular Tachycardia, Familial

Expression for Ventricular Tachycardia, Familial

Search GEO for disease gene expression data for Ventricular Tachycardia, Familial.

Pathways for Ventricular Tachycardia, Familial

Pathways related to Ventricular Tachycardia, Familial according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 GNAI2 RYR2
2
Show member pathways
12.27 GNAI2 RYR2
3
Show member pathways
12.23 GNAI2 RYR2
4
Show member pathways
12.02 GNAI2 RYR2
5
Show member pathways
11.9 GNAI2 RYR2
6
Show member pathways
11.65 GNAI2 RYR2
7
Show member pathways
11.26 GNAI2 RYR2
8 10.76 GNAI2 RYR2

GO Terms for Ventricular Tachycardia, Familial

Sources for Ventricular Tachycardia, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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