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 56 73 29 13 6 71
Vsd2 56 73
Septal Defect, Ventricular, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
ventricular septal defect 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614431
OMIM Phenotypic Series 56 PS614429
MeSH 43 D006345
MedGen 41 C3280783
SNOMED-CT via HPO 68 109428005 263681008
UMLS 71 C3280783

Summaries for Ventricular Septal Defect 2

OMIM : 56 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 perimembranous ventricular septal defect 31 HP:0011682

Symptoms via clinical synopsis from OMIM:

56
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 Completed 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:

40
Heart, Brain, Fetal Brain, Lung, T Cells

Publications for Ventricular Septal Defect 2

Articles related to Ventricular Septal Defect 2:

(show all 42)
# Title Authors PMID Year
1
Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 56 6
16287139 2005
2
A novel GATA4 mutation responsible for congenital ventricular septal defects. 56
21637914 2011
3
A novel NKX2-5 mutation in familial ventricular septal defect. 56
21165553 2011
4
Resting state structure of the hyperdepolarization activated two-pore channel 3. 61
31924746 2020
5
Development of Photocrosslinking Probes Based on Huwentoxin-IV to Map the Site of Interaction on Nav1.7. 61
31732432 2019
6
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. 61
31099313 2019
7
Structural Basis of Nav1.7 Inhibition by a Gating-Modifier Spider Toxin. 61
30661758 2019
8
22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features. 61
30410196 2018
9
Obstetric outcomes and effects on babies born to women treated for epilepsy during pregnancy in a resource limited setting: a comparative cohort study. 61
29898689 2018
10
Selective Ligands and Drug Discovery Targeting the Voltage-Gated Sodium Channel Nav1.7. 61
29532179 2018
11
A Functional NaV1.7-NaVAb Chimera with a Reconstituted High-Affinity ProTx-II Binding Site. 61
28645932 2017
12
A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis. 61
27114761 2016
13
Structure, inhibition and regulation of two-pore channel TPC1 from Arabidopsis thaliana. 61
26961658 2016
14
The trabecula septomarginalis (Leonardo's cord) in abnormal ventriculo-arterial connections: anatomic and morphogenetic implications. 61
24750982 2014
15
Gingival evaluation of the pediatric cardiac patient. 61
24290561 2013
16
[Clinical value of ECG-gated dual-source computed tomography and angiography in assessing coarctation of aorta]. 61
23488145 2013
17
Monochorionic twins discordant for congenital heart disease: a referral center's experience and possible pathophysiologic mechanisms. 61
21744365 2011
18
Pentalogy of Cantrell: Forty-two Years of Experience in the Hospital Infantil de Mexico Federico Gomez. 61
23804974 2011
19
[Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children]. 61
21055286 2010
20
Safety and efficacy of transition from subcutaneous treprostinil to oral sildenafil in patients with pulmonary arterial hypertension. 61
18022071 2007
21
Management after childhood repair of tetralogy of fallot. 61
17078912 2006
22
[Safeguard and management of the heart vales in congenital heart disease procedure]. 61
14680562 2003
23
Late recovery of atrioventricular conduction after pacemaker implantation for complete heart block associated with surgery for congenital heart disease. 61
12830046 2003
24
Excellent survival and low complication rate in medium-term follow-up after arterial switch operation for complete transposition. 61
12775310 2003
25
BioGlue Surgical Adhesive--an appraisal of its indications in cardiac surgery. 61
12173825 2002
26
Surgical management of aortopulmonary window. 61
11030126 2000
27
Surgical experience with congenital heart disease in Down's syndrome. 61
11084787 2000
28
Left ventricular growth in selected hypoplastic left ventricles: outcome after repair of coarctation of aorta. 61
10475427 1999
29
[Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2]. 61
9951451 1999
30
[Intracardiac operations performed in beating heart through mini-thoracotomy in 34 patients]. 61
11825411 1998
31
Transesophageal echocardiography to evaluate patients with severe pulmonary hypertension for lung transplantation. 61
7887718 1995
32
Selective lung or heart-lung transplantation for pulmonary hypertension associated with congenital cardiac anomalies. 61
8010800 1994
33
Transtelephonic echocardiography: successful use in a tertiary pediatric referral center. 61
8501554 1993
34
Total cavopulmonary connection--early results. 61
8314274 1993
35
The Damus-Stansel-Kaye procedure: anatomical determinants and modifications. 61
1898173 1991
36
Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis. 61
2395741 1990
37
[Heart valve replacement in active infectious endocarditis]. 61
2799330 1989
38
Extracorporeal membrane oxygenation for postcardiotomy cardiogenic shock in children. 61
2757447 1989
39
The Puig-Massana-Shiley annuloplasty ring for mitral valve repair: experience in 126 patients. 61
3800481 1987
40
Management of penetrating cardiac injuries: the role of emergency room thoracotomy. 61
6476939 1984
41
Second heart sound after pulmonary arterial banding operation. 61
57786 1976
42
[Mechanism of development of the prolapsing aortic valve and aortic insufficency associated with ventricular septal defect. 2. Angiocardiographic considerations]. 61
1240886 1975

Variations for Ventricular Septal Defect 2

ClinVar genetic disease variations for Ventricular Septal Defect 2:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CITED2 CITED2, 27-BP DEL, NT508deletion Pathogenic 6721

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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