VSD2
MCID: VNT026
MIFTS: 24

Ventricular Septal Defect 2 (VSD2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ventricular Septal Defect 2

MalaCards integrated aliases for Ventricular Septal Defect 2:

Name: Ventricular Septal Defect 2 57 74 29 13 6 72
Vsd2 57 74
Septal Defect, Ventricular, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
ventricular septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D006345
MedGen 42 C3280783
UMLS 72 C3280783

Summaries for Ventricular Septal Defect 2

OMIM : 57 Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by 2,3:Wang et al., 2011, 2011). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429). (614431)

MalaCards based summary : Ventricular Septal Defect 2, also known as vsd2, is related to ventricular septal defect and heart septal defect. An important gene associated with Ventricular Septal Defect 2 is CITED2 (Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2). Affiliated tissues include heart, brain and fetal brain, and related phenotype is perimembranous ventricular septal defect.

UniProtKB/Swiss-Prot : 74 Ventricular septal defect 2: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.

Related Diseases for Ventricular Septal Defect 2

Diseases in the Ventricular Septal Defect family:

Ventricular Septal Defect 1 Ventricular Septal Defect 2
Ventricular Septal Defect 3

Diseases related to Ventricular Septal Defect 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 10.2
2 heart septal defect 9.9
3 pulmonary valve stenosis 9.9

Symptoms & Phenotypes for Ventricular Septal Defect 2

Human phenotypes related to Ventricular Septal Defect 2:

32
# Description HPO Frequency HPO Source Accession
1 perimembranous ventricular septal defect 32 HP:0011682

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
ventricular septal defect, perimembranous

Clinical features from OMIM:

614431

Drugs & Therapeutics for Ventricular Septal Defect 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Recruiting NCT03684161

Search NIH Clinical Center for Ventricular Septal Defect 2

Genetic Tests for Ventricular Septal Defect 2

Genetic tests related to Ventricular Septal Defect 2:

# Genetic test Affiliating Genes
1 Ventricular Septal Defect 2 29 CITED2

Anatomical Context for Ventricular Septal Defect 2

MalaCards organs/tissues related to Ventricular Septal Defect 2:

41
Heart, Brain, Fetal Brain, Lung, T Cells

Publications for Ventricular Septal Defect 2

Articles related to Ventricular Septal Defect 2:

(show all 40)
# Title Authors PMID Year
1
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 8 71
16287139 2005
2
A novel GATA4 mutation responsible for congenital ventricular septal defects. 8
21637914 2011
3
A novel NKX2-5 mutation in familial ventricular septal defect. 8
21165553 2011
4
Insights into the binding mode and functional components of the analgesic-antitumour peptide from Buthus martensii Karsch to human voltage-gated sodium channel 1.7 based on dynamic simulation analysis. 38
31099313 2019
5
Structural Basis of Nav1.7 Inhibition by a Gating-Modifier Spider Toxin. 38
30661758 2019
6
22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features. 38
30410196 2018
7
Obstetric outcomes and effects on babies born to women treated for epilepsy during pregnancy in a resource limited setting: a comparative cohort study. 38
29898689 2018
8
Selective Ligands and Drug Discovery Targeting the Voltage-Gated Sodium Channel Nav1.7. 38
29532179 2018
9
A Functional NaV1.7-NaVAb Chimera with a Reconstituted High-Affinity ProTx-II Binding Site. 38
28645932 2017
10
A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis. 38
27114761 2016
11
Structure, inhibition and regulation of two-pore channel TPC1 from Arabidopsis thaliana. 38
26961658 2016
12
The trabecula septomarginalis (Leonardo's cord) in abnormal ventriculo-arterial connections: anatomic and morphogenetic implications. 38
24750982 2014
13
Gingival evaluation of the pediatric cardiac patient. 38
24290561 2013
14
[Clinical value of ECG-gated dual-source computed tomography and angiography in assessing coarctation of aorta]. 38
23488145 2013
15
Monochorionic twins discordant for congenital heart disease: a referral center's experience and possible pathophysiologic mechanisms. 38
21744365 2011
16
Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. 38
23804974 2011
17
[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. 38
21055286 2010
18
Safety and efficacy of transition from subcutaneous treprostinil to oral sildenafil in patients with pulmonary arterial hypertension. 38
18022071 2007
19
Management after childhood repair of tetralogy of fallot. 38
17078912 2006
20
[Safeguard and management of the heart vales in congenital heart disease procedure]. 38
14680562 2003
21
Late recovery of atrioventricular conduction after pacemaker implantation for complete heart block associated with surgery for congenital heart disease. 38
12830046 2003
22
Excellent survival and low complication rate in medium-term follow-up after arterial switch operation for complete transposition. 38
12775310 2003
23
BioGlue Surgical Adhesive--an appraisal of its indications in cardiac surgery. 38
12173825 2002
24
Surgical management of aortopulmonary window. 38
11030126 2000
25
Surgical experience with congenital heart disease in Down's syndrome. 38
11084787 2000
26
Left ventricular growth in selected hypoplastic left ventricles: outcome after repair of coarctation of aorta. 38
10475427 1999
27
[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2]. 38
9951451 1999
28
[Intracardiac operations performed in beating heart through mini-thoracotomy in 34 patients]. 38
11825411 1998
29
Transesophageal echocardiography to evaluate patients with severe pulmonary hypertension for lung transplantation. 38
7887718 1995
30
Selective lung or heart-lung transplantation for pulmonary hypertension associated with congenital cardiac anomalies. 38
8010800 1994
31
Transtelephonic echocardiography: successful use in a tertiary pediatric referral center. 38
8501554 1993
32
Total cavopulmonary connection--early results. 38
8314274 1993
33
The Damus-Stansel-Kaye procedure: anatomical determinants and modifications. 38
1898173 1991
34
Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis. 38
2395741 1990
35
[Heart valve replacement in active infectious endocarditis]. 38
2799330 1989
36
Extracorporeal membrane oxygenation for postcardiotomy cardiogenic shock in children. 38
2757447 1989
37
The Puig-Massana-Shiley annuloplasty ring for mitral valve repair: experience in 126 patients. 38
3800481 1987
38
Management of penetrating cardiac injuries: the role of emergency room thoracotomy. 38
6476939 1984
39
Second heart sound after pulmonary arterial banding operation. 38
57786 1976
40
[Mechanism of development of the prolapsing aortic valve and aortic insufficency associated with ventricular septal defect. 2. Angiocardiographic considerations]. 38
1240886 1975

Variations for Ventricular Septal Defect 2

ClinVar genetic disease variations for Ventricular Septal Defect 2:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CITED2 CITED2, 27-BP DEL, NT508 deletion Pathogenic

Expression for Ventricular Septal Defect 2

Search GEO for disease gene expression data for Ventricular Septal Defect 2.

Pathways for Ventricular Septal Defect 2

GO Terms for Ventricular Septal Defect 2

Sources for Ventricular Septal Defect 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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