VF2
MCID: VNT012
MIFTS: 15

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 57 29 13 6
Vf2 57 74
Fibrillation, Ventricular, Paroxysmal, Familial, Type 2 40
Familial Paroxysmal Ventricular Fibrillation 2 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ventricular fibrillation, paroxysmal familial, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612956
MeSH 44 D014693
MedGen 42 C2751829

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 2

UniProtKB/Swiss-Prot : 74 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). Related phenotypes are sudden cardiac death and ventricular fibrillation

More information 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:

32
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 occasional (7.5%) HP:0001645
2 ventricular fibrillation 32 HP:0001663

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
ventricular fibrillation
sudden cardiac death (in some patients)

Clinical features from OMIM:

612956

Drugs & Therapeutics for Ventricular Fibrillation, Paroxysmal Familial, 2

Search Clinical Trials , 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 29 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 PMID Year
1
Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. 8 71
19285295 2009
2
Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3. 8
15890703 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 GRCh37 Pos GRCh38 Pos
1 DPP6 NM_001039350.3(DPP6): c.52-141059C> T single nucleotide variant Pathogenic rs606231226 7:154002240-154002240 7:154305155-154305155

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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