VF2
MCID: VNT012
MIFTS: 17

Ventricular Fibrillation, Paroxysmal Familial, 2 (VF2)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ventricular Fibrillation, Paroxysmal Familial, 2

MalaCards integrated aliases for Ventricular Fibrillation, Paroxysmal Familial, 2:

Name: Ventricular Fibrillation, Paroxysmal Familial, 2 58 30 13 6
Vf2 58 76
Fibrillation, Ventricular, Paroxysmal, Familial, Type 2 41
Familial Paroxysmal Ventricular Fibrillation 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
cardiac examination is usually unremarkable
therapy is placement of implantable cardioverter defibrillator (icd)
risk haplotype found in dutch families


HPO:

33
ventricular fibrillation, paroxysmal familial, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612956
MeSH 45 D014693
MedGen 43 C2751829
SNOMED-CT via HPO 70 263681008 71908006 95281009

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 2

UniProtKB/Swiss-Prot : 76 Familial paroxysmal ventricular fibrillation 2: A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity.

MalaCards based summary : Ventricular Fibrillation, Paroxysmal Familial, 2, is also known as vf2. An important gene associated with Ventricular Fibrillation, Paroxysmal Familial, 2 is DPP6 (Dipeptidyl Peptidase Like 6). The drug Fluorides has been mentioned in the context of this disorder. Related phenotypes are sudden cardiac death and ventricular fibrillation

Description from OMIM: 612956

Related Diseases for Ventricular Fibrillation, Paroxysmal Familial, 2

Diseases in the Paroxysmal Ventricular Fibrillation family:

Ventricular Fibrillation, Paroxysmal Familial, 1 Ventricular Fibrillation, Paroxysmal Familial, 2

Symptoms & Phenotypes for Ventricular Fibrillation, Paroxysmal Familial, 2

Human phenotypes related to Ventricular Fibrillation, Paroxysmal Familial, 2:

33
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 occasional (7.5%) HP:0001645
2 ventricular fibrillation 33 HP:0001663

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
ventricular fibrillation
sudden cardiac death (in some patients)

Clinical features from OMIM:

612956

Drugs & Therapeutics for Ventricular Fibrillation, Paroxysmal Familial, 2

Drugs for Ventricular Fibrillation, Paroxysmal Familial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorides Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of a Self-adhering Material in Dental Hypersensitivity Completed NCT02766127 Not Applicable

Search NIH Clinical Center for Ventricular Fibrillation, Paroxysmal Familial, 2

Genetic Tests for Ventricular Fibrillation, Paroxysmal Familial, 2

Genetic tests related to Ventricular Fibrillation, Paroxysmal Familial, 2:

# Genetic test Affiliating Genes
1 Ventricular Fibrillation, Paroxysmal Familial, 2 30 DPP6

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 2

Publications for Ventricular Fibrillation, Paroxysmal Familial, 2

Articles related to Ventricular Fibrillation, Paroxysmal Familial, 2:

# Title Authors Year
1
Systematic benchmark of substructure search in molecular graphs - From Ullmann to VF2. ( 22849361 )
2012
2
Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. ( 19285295 )
2009
3
Multireference calculations of the electronic structure of VF2 and VCl2. ( 16321079 )
2005

Variations for Ventricular Fibrillation, Paroxysmal Familial, 2

ClinVar genetic disease variations for Ventricular Fibrillation, Paroxysmal Familial, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DPP6 NM_001039350.2(DPP6): c.52-141059C> T single nucleotide variant Pathogenic rs606231226 GRCh38 Chromosome 7, 154305155: 154305155
2 DPP6 NM_001039350.2(DPP6): c.52-141059C> T single nucleotide variant Pathogenic rs606231226 GRCh37 Chromosome 7, 154002240: 154002240

Expression for Ventricular Fibrillation, Paroxysmal Familial, 2

Search GEO for disease gene expression data for Ventricular Fibrillation, Paroxysmal Familial, 2.

Pathways for Ventricular Fibrillation, Paroxysmal Familial, 2

GO Terms for Ventricular Fibrillation, Paroxysmal Familial, 2

Sources for Ventricular Fibrillation, Paroxysmal Familial, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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