MCID: VNT012
MIFTS: 16

Ventricular Fibrillation, Paroxysmal Familial, 2

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 75
Fibrillation, Ventricular, Paroxysmal, Familial, Type 2 40
Familial Paroxysmal Ventricular Fibrillation 2 75

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
MedGen 42 C2751829
MeSH 44 D014693
SNOMED-CT via HPO 69 263681008 95281009 71908006

Summaries for Ventricular Fibrillation, Paroxysmal Familial, 2

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

612956

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

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 29 DPP6

Anatomical Context for Ventricular Fibrillation, Paroxysmal Familial, 2

Publications for Ventricular Fibrillation, Paroxysmal Familial, 2

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

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 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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