VSD1
MCID: VNT028
MIFTS: 28

Ventricular Septal Defect 1 (VSD1)

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

Aliases & Classifications for Ventricular Septal Defect 1

MalaCards integrated aliases for Ventricular Septal Defect 1:

Name: Ventricular Septal Defect 1 57 72 29 13 6 70
Vsd1 57 72
Septal Defect, Ventricular, Type 1 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ventricular septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 614429
OMIM Phenotypic Series 57 PS614429
MeSH 44 D006345
MedGen 41 C3280777
UMLS 70 C3280777

Summaries for Ventricular Septal Defect 1

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 3,4:Wang et al., 2011, 2011). Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430). (614429) (Updated 20-May-2021)

MalaCards based summary : Ventricular Septal Defect 1, also known as vsd1, is related to ventricular septal defect 2 and ventricular septal defect 3. An important gene associated with Ventricular Septal Defect 1 is GATA4 (GATA Binding Protein 4). Affiliated tissues include heart and fetal brain, and related phenotypes are atrial septal defect and pulmonic stenosis

UniProtKB/Swiss-Prot : 72 Ventricular septal defect 1: 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 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 2 10.9
2 ventricular septal defect 3 10.9
3 ventricular septal defect 10.0
4 heart septal defect 10.0
5 atrioventricular septal defect 9.5 GATA4 AVSD1

Graphical network of the top 20 diseases related to Ventricular Septal Defect 1:



Diseases related to Ventricular Septal Defect 1

Symptoms & Phenotypes for Ventricular Septal Defect 1

Human phenotypes related to Ventricular Septal Defect 1:

31
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 occasional (7.5%) HP:0001631
2 pulmonic stenosis 31 occasional (7.5%) HP:0001642
3 ventricular septal defect 31 HP:0001629

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
ventricular septal defect
atrial septal defect (in some patients)
atrioventricular conduction defect (in some patients)

Cardiovascular Vascular:
pulmonary stenosis (in some patients)

Clinical features from OMIM®:

614429 (Updated 20-May-2021)

Drugs & Therapeutics for Ventricular Septal Defect 1

Search Clinical Trials , NIH Clinical Center for Ventricular Septal Defect 1

Genetic Tests for Ventricular Septal Defect 1

Genetic tests related to Ventricular Septal Defect 1:

# Genetic test Affiliating Genes
1 Ventricular Septal Defect 1 29 GATA4

Anatomical Context for Ventricular Septal Defect 1

MalaCards organs/tissues related to Ventricular Septal Defect 1:

40
Heart, Fetal Brain

Publications for Ventricular Septal Defect 1

Articles related to Ventricular Septal Defect 1:

(show top 50) (show all 55)
# Title Authors PMID Year
1
A novel GATA4 loss-of-function mutation associated with congenital ventricular septal defect. 6 57
22101736 2012
2
A novel GATA4 mutation responsible for congenital ventricular septal defects. 57 6
21637914 2011
3
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 57 6
21110066 2010
4
GATA4 mutations in 486 Chinese patients with congenital heart disease. 6 57
18672102 2008
5
Two novel mutations of the IRX4 gene in patients with congenital heart disease. 57
21544582 2011
6
A novel NKX2-5 mutation in familial ventricular septal defect. 57
21165553 2011
7
Spectrum of heart disease associated with murine and human GATA4 mutation. 6
17643447 2007
8
Structural basis of α-scorpion toxin action on Nav channels. 61
30733386 2019
9
Investigation of the selectivity of one type of small-molecule inhibitor for three Nav channel isoforms based on the method of computer simulation. 61
29448911 2019
10
[Treatment experience of cardiac rupture in patients with acute myocardial infarction]. 61
30032547 2018
11
Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease. 61
29568912 2018
12
[Surgical treatment and early-mid follow-up results of complete atrioventricular septal]. 61
29224269 2017
13
The value of cardiovascular magnetic resonance in the diagnosis of fetal aortic arch anomalies. 61
27440228 2017
14
Neurofibromatosis type 1 and cardiac manifestations. 61
26717333 2015
15
Surgical correction of cor triatriatum sinister in the paediatric population: mid-term results in 15 cases. 61
25312520 2015
16
Catheter ablation of drug resistant supraventricular tachycardia in neonates and infants. 61
23788297 2013
17
[Metalloproteinase Tolloid-like 1 gene mutation in Chinese patients with sporadic congenital heart diseases]. 61
22883091 2012
18
Pulmonary artery sling: current results with cardiopulmonary bypass. 61
22050985 2012
19
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. 61
19767224 2009
20
Aortic root dilation in patients with 22q11.2 deletion syndrome. 61
19353635 2009
21
Living donor liver transplantation in children with congenital heart disease. 61
17713432 2007
22
[Echocardiographic findings in children with "innocent" murmur]. 61
16967146 2006
23
Recombinant factor VIIa to control excessive bleeding following surgery for congenital heart disease in pediatric patients. 61
15358945 2004
24
Remote control of pulmonary blood flow: initial clinical experience. 61
14688686 2003
25
Modified Lecompte procedure for the anomalies of ventriculoarterial connection. 61
11465174 2001
26
Complete repair of tetralogy of Fallot in the neonate: results in the modern era. 61
10998649 2000
27
Surgical experience with congenital heart disease in Down's syndrome. 61
11084787 2000
28
[Microdeletion of 22q11 and conotruncal cardiopathies: contribution of prenatal diagnosis]. 61
10598346 1999
29
Prenatal sonographic diagnosis of VATER association. 61
10440786 1999
30
Dose-dependent fetal complications of warfarin in pregnant women with mechanical heart valves. 61
10334435 1999
31
Results of rapid two-stage arterial switch operation in patients with transposition of the great arteries: one-year postoperation. 61
9803087 1998
32
Moyamoya syndrome associated with congenital heart disease. 61
9417151 1998
33
Recognition and management of nonpenetrating cardiac trauma in children. 61
8618189 1996
34
Effects of electrocardiograph frequency filters on P-QRS-T amplitudes of the feline electrocardiogram. 61
8585669 1995
35
Assessment of left-to-right intracardiac shunting by velocity-encoded, phase-difference magnetic resonance imaging. A comparison with oximetric and indicator dilution techniques. 61
7796506 1995
36
Operative risk factors and durability of repair of coarctation of the aorta in the neonate. 61
8067838 1994
37
[Effective dose of flecainide for arrhythmia in children]. 61
8256048 1993
38
[Quantification of postoperative pulmonary valve insufficiency: severity and clinical symptoms]. 61
8291290 1993
39
[Peritoneal dialysis following open heart surgery in children]. 61
8360531 1993
40
Transesophageal echocardiography during repair of congenital cardiac defects: identification of residual problems necessitating reoperation. 61
8217203 1993
41
Total cavopulmonary connection--early results. 61
8314274 1993
42
[Aortic valve insufficiency: an unrecognized complication of the surgical repair of ostium primum atrial septal defect]. 61
1898196 1991
43
[Right pulmonary artery arising from the proximal ascending aorta. A model of reflex pulmonary hypertension of the left lung?]. 61
1898198 1991
44
Cardiac myxoma--clinical experience in 24 patients. 61
2283191 1990
45
Initial evaluation of heart murmurs: are laboratory tests necessary? 61
2216611 1990
46
Congenital polyvalvular disease in trisomy 18: echocardiographic diagnosis. 61
2395741 1990
47
Fetal echocardiography: a large clinical experience and follow-up. 61
2310591 1990
48
[Nuclear magnetic resonance in congenital cardiopathies in adults]. 61
2328854 1990
49
Extracorporeal membrane oxygenation for postcardiotomy cardiogenic shock in children. 61
2757447 1989
50
Congenital heart malformations associated with dilated cardiomyopathy. 61
3667000 1987

Variations for Ventricular Septal Defect 1

ClinVar genetic disease variations for Ventricular Septal Defect 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA4 NM_002052.5(GATA4):c.487C>T (p.Pro163Ser) SNV Pathogenic 30099 rs387906769 GRCh37: 8:11566308-11566308
GRCh38: 8:11708799-11708799
2 GATA4 NM_002052.5(GATA4):c.1075G>A (p.Glu359Lys) SNV Pathogenic 30101 rs368489876 GRCh37: 8:11614521-11614521
GRCh38: 8:11757012-11757012
3 GATA4 NM_002052.5(GATA4):c.1325C>T (p.Ala442Val) SNV Pathogenic 30102 rs146017816 GRCh37: 8:11615980-11615980
GRCh38: 8:11758471-11758471
4 GATA4 NM_002052.5(GATA4):c.886G>C (p.Gly296Arg) SNV Pathogenic 30106 rs104894073 GRCh37: 8:11607722-11607722
GRCh38: 8:11750213-11750213
5 GATA4 NM_002052.5(GATA4):c.127C>T (p.Arg43Trp) SNV Pathogenic 30107 rs387906770 GRCh37: 8:11565948-11565948
GRCh38: 8:11708439-11708439
6 GATA4 NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln) SNV Pathogenic 30103 rs115099192 GRCh37: 8:11615875-11615875
GRCh38: 8:11758366-11758366
7 GATA4 NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln) SNV Uncertain significance 30103 rs115099192 GRCh37: 8:11615875-11615875
GRCh38: 8:11758366-11758366
8 GATA4 NM_002052.5(GATA4):c.263G>T (p.Gly88Val) SNV Uncertain significance 472776 rs980402710 GRCh37: 8:11566084-11566084
GRCh38: 8:11708575-11708575
9 GATA4 NM_001308093.3(GATA4):c.931A>T (p.Met311Leu) SNV Uncertain significance 1029406 GRCh37: 8:11612573-11612573
GRCh38: 8:11755064-11755064
10 GATA4 NM_001308093.3(GATA4):c.825C>T (p.Cys275=) SNV Uncertain significance 44336 rs55980825 GRCh37: 8:11607658-11607658
GRCh38: 8:11750149-11750149

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Septal Defect 1:

72
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Ala6Val VAR_067605 rs199922907
2 GATA4 p.Arg43Trp VAR_067606 rs387906770
3 GATA4 p.Gly296Arg VAR_067613 rs104894073
4 GATA4 p.Glu359Lys VAR_067617 rs368489876
5 GATA4 p.Ser429Thr VAR_067622
6 GATA4 p.Ala442Val VAR_067623 rs146017816

Expression for Ventricular Septal Defect 1

Search GEO for disease gene expression data for Ventricular Septal Defect 1.

Pathways for Ventricular Septal Defect 1

GO Terms for Ventricular Septal Defect 1

Sources for Ventricular Septal Defect 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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