MCID: VNT002
MIFTS: 53

Ventricular Septal Defect malady

Summaries for Ventricular Septal Defect

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Wikipedia:63 A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and... more...

MalaCards: Ventricular Septal Defect, also known as ventricular septal defects, is related to double outlet right ventricle and heart septal defect. An important gene associated with Ventricular Septal Defect is NKX2-5 (NK2 homeobox 5), and among its related pathways are HOP Signaling and Transcriptional Regulatory Network in Embryonic Stem Cell. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related mouse phenotypes are limbs/digits/tail and muscle.

Aliases & Classifications for Ventricular Septal Defect

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8Disease Ontology, 10DISEASES, 42NIH Rare Diseases, 44Novoseek, 56SNOMED-CT, 60UMLS, 27ICD9CM, 34MeSH, 39NCIt
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Aliases & Descriptions:

ventricular septal defect 8 10
ventricular septal defects 42 44
ventricular septal defect, unspecified 8
heart septal defects, ventricular 42
interventricular septal defect 8
ventricular septal abnormality 8
ventricular septal defect nos 8
septal def.-ventricular 8


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Disease Ontology8 DOID:1657
ICD9CM27 745.4
MeSH34 D006345
NCIt39 C84506

Related Diseases for Ventricular Septal Defect

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17GeneCards, 18GeneDecks
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Diseases in the Ventricular Septal Defect 1 family:

ventricular septal defect Ventricular Septal Defect 3
Ventricular Septal Defect 2 Multiple Ventricular Septal Defects

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

(show top 50)    (show all 260)
idRelated DiseaseScoreTop Affiliating Genes
1double outlet right ventricle31.4GDF1, CFC1
2heart septal defect31.3TBX5, NKX2-5, GATA4
3tetralogy of fallot31.2GATA4, GDF1, NKX2-5, GATA6
4atrioventricular septal defect31.1CLTCL1, GATA4, NKX2-5, TBX5
5hypertension31.1NPPB
6patent ductus arteriosus31.1TBX1
7dextrocardia30.9SLC35B2
8congenital heart defect30.8NPPB, TBX5, NKX2-5, GATA4
9pulmonary valve stenosis30.8SLC35B2
10atrioventricular block30.7NKX2-5, GATA4, NPPB
11atrial heart septal defect30.6GATA4, NKX2-5, NPPB, TBX5
12situs inversus30.6GDF1, ZIC3
13holt-oram syndrome30.5TBX1, TBX5
14ebstein anomaly30.3TBX1
15digeorge syndrome30.3TBX5, TBX1
16ulnar-mammary syndrome30.1TBX5
17pallister-hall syndrome30.1GLI1
18septal myocardial infarction10.8
19myocardial infarction10.8
20endocarditis10.8
21aortic valve prolapse10.7
22infective endocarditis10.6
23acute myocardial infarction10.5
24right bundle branch block10.5
25aortic incompetence10.5
26ventricular septal defect 110.5
27hypertrophic cardiomyopathy10.4
28subvalvular aortic stenosis10.4
29pulmonary atresia with ventricular septal defect10.4
30aorta atresia10.4
31vascular disease10.4
32ventricular septal defect 310.4
33ventricular septal defect 210.4
34cerebritis10.3
35subacute bacterial endocarditis10.3
36inferior myocardial infarction10.3
37constrictive pericarditis10.3
38pericardial effusion10.3
39pericarditis10.3
40laubry-pezzi syndrome10.3
41single ventricular septal defect10.3
42multiple ventricular septal defects10.3
43pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus10.3
44coronary artery disease10.3
45marfan syndrome10.3
46goldenhar syndrome10.3
47hajdu-cheney syndrome10.3
48tuberous sclerosis10.3
49coronary aneurysm10.3
50discrete subaortic stenosis10.3

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



Diseases related to ventricular septal defect

Clinical Features for Ventricular Septal Defect

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Drugs & Therapeutics for Ventricular Septal Defect

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ventricular Septal Defect

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Anatomical Context for Ventricular Septal Defect

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32MalaCards
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MalaCards organs/tissues related to Ventricular Septal Defect:

32
Heart, Lung, Brain, Liver, Colon, Pineal, Atrioventricular node

Animal Models for Ventricular Septal Defect or affiliated genes

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36MGI
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Publications for Ventricular Septal Defect

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50PubMed
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Articles related to Ventricular Septal Defect:

(show top 50)    (show all 918)
idTitleAuthorsYear
1
Hybrid technique for ventricular septal defect closure in a dog using an AmplatzerAr Duct Occluder II. (23962683)
2013
2
Use of a totally artificial heart for a complex postinfarction ventricular septal defect. (23803241)
2013
3
Double-outlet left ventricle with L-malposition of the great arteries and subpulmonary ventricular septal defect. (23689608)
2013
4
Perventricular Closure of a Post-Traumatic Muscular Ventricular Septal Defect Guided by Transesophageal Echocardiogram. (24266864)
2013
5
Coronary artery to pulmonary artery communications in pulmonary atresia with ventricular septal defect. (24206891)
2013
6
Contemporary outcomes of surgical ventricular septal defect closure. (23414985)
2013
7
Cone reconstruction and ventricular septal defect closure for neonatal Ebstein's anomaly. (24414717)
2012
8
A successful percutaneous closure of ventricular septal defect following septal myectomy in patients with hypertrophic obstructive cardiomyopathy. (22547641)
2012
9
Perventricular device closure of isolated muscular ventricular septal defect in infants: a single centre experience. (23253407)
2012
10
Unusual combination of hypoplastic left ventricle, atrioventricular septal defect with restrictive ventricular septal defect, and common arterial trunk. (23804879)
2012
11
Giant Dilatation of the Right Coronary Aortic Bulb with Compression of the Right Ventricular Outflow Tract Mimicking a Ventricular Septal Defect: Diagnostic workup Using Echocardiography, Heart Catheterization, and Cardiac Computed Tomography. (22952479)
2012
12
A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect. (22784302)
2012
13
Genetic analysis of an enhancer of the NKX2-5 gene in ventricular septal defects. (22824467)
2012
14
Ventricular septal defect in a ferret (Mustela putorius furo). (22861049)
2012
15
Ventricular septal defect with aortic valve insufficiency in a New Zealand White rabbit. (21730092)
2011
16
Complete Repair of Coarctation of the Aorta and a Ventricular Septal Defect in a 1,480 g Low Birth Weight Neonate. (22263148)
2011
17
Transesophageal echo to help percutaneous closure of ventricular septal defect post acute myocardial infarction. (21526918)
2011
18
Mechanisms of pulmonary hypertension related to ventricular septal defect in congenital heart disease. (22035778)
2011
19
An infant with trisomy 18 and a ventricular septal defect. (21402635)
2011
20
Enhancing our view of the doubly committed ventricular septal defect. (23804995)
2011
21
Ventricular septal defect closure in a small children with the Amplatzer Duct Occluder II. (21290557)
2011
22
A rare case of double orifice mitral valve with perimembranous ventricular septal defect: Application of three-dimensional echocardiography for clinical decision making. (20814484)
2010
23
A rare anatomic variation: a combination of anomalous origin of the right subclavian artery from the main pulmonary artery, ventricular septal defect, and aortic coarctation. (20534426)
2010
24
Management of ventricular septal defect with pulmonary atresia and major aorto pulmonary collateral arteries: Challenges and controversies. (21234191)
2010
25
Radial incision for ventricular septal defect with membranous septal aneurysm. (20519293)
2010
26
Failed closure of a ventricular septal defect with an Amplatzer occluder. (19914923)
2010
27
Subcutaneous fat necrosis of the newborn associated with ventricular septal defect and patent ductus arteriosus. (19702998)
2009
28
Specific issues after surgical repair of partial atrioventricular septal defect: actuarial survival, freedom from reoperation, fate of the left atrioventricular valve, prevalence of left ventricular outflow tract obstruction, and other events. (19258063)
2009
29
Pulmonary vascular protective mechanisms in adult patients with an isolated large ventricular septal defect: a 21-year experience. (19796086)
2009
30
The effects of surgically induced right bundle branch block on left ventricular function after closure of the ventricular septal defect. (18577304)
2008
31
Patent ductus arteriosus, ventricular septal defect and pulmonary hypertension in a child with 49, XXXXY syndrome. (17100209)
2006
32
Vertebral malformation, syringomyelia, and ventricular septal defect in a dromedary camel (Camelius dromedarius). (15305748)
2004
33
Two-dimensional echocardiographic diagnosis of double outlet left ventricle with subaortic ventricular septal defect, pulmonary stenosis, and a hypoplastic left ventricle. (12514643)
2003
34
Increasing experience with integrated approach to pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. (12754024)
2003
35
Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk. (12047549)
2002
36
Mobius syndrome associated with ventricular septal defect. (11407163)
2001
37
Early and intermediate outcomes after repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: experience with 85 patients. (10769284)
2000
38
Left ventricular outflow tract obstruction after partial atrioventricular septal defect repair. (10585048)
1999
39
Eisenmenger syndrome in adults: ventricular septal defect, truncus arteriosus, univentricular heart. (10400015)
1999
40
Images in cardiovascular medicine. Huge dilatation of pulmonary arteries due To ventricular septal defect with the Eisenmenger syndrome. (8941151)
1996
41
Surgical management of ventricular septal defect with aortic valve prolapse: clinical considerations and results. (7546804)
1995
42
Anterolateral muscle bundle of the left ventricle in atrioventricular septal defect: left ventricular outflow tract and subaortic stenosis. (1534888)
1992
43
Surgical management of isolated multiple ventricular septal defects. Logical approach in 130 cases. (1545542)
1992
44
Left ventricular outflow tract obstruction with aortic arch anomalies and ventricular septal defect. (2241361)
1990
45
Ventricular septal defect closure without aortic valve plication in patients with aortic valve prolapse. (2337043)
1990
46
Cross sectional echocardiography for recognition of ventricular topology in atrioventricular septal defect. (2930666)
1989
47
Criss-cross heart--a case with horizontal septum, complete transposition, pulmonary atresia and ventricular septal defect. (7163021)
1982
48
Left ventricular approach to multiple ventricular septal defects. (596966)
1977
49
Intravascular hemolysis with pulmonic stenosis. Occurrence after correction of subpulmonary ventricular septal defect. (852330)
1977
50
The surgery of tetralogy of Fallot, pulmonary atresia with ventricular septal defect and transposition of the great vessels. (5711069)
1968

Genetic Variations for Ventricular Septal Defect

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Expression for genes affiliated with Ventricular Septal Defect

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ventricular Septal Defect

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

Pathways for genes affiliated with Ventricular Septal Defect

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51QIAGEN, 4Cell Signaling Technology, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Ventricular Septal Defect

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44Novoseek, 24HMDB
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Compounds related to Ventricular Septal Defect according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc44 2411.0GLI1, NKX2-5, GATA6, GATA4, NPPB, ZIC3

GO Terms for genes affiliated with Ventricular Septal Defect

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16Gene Ontology
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Biological processes related to Ventricular Septal Defect according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idNameGO IDScoreTop Affiliating Genes
1bundle of His developmentGO:00316610.8NKX2-5, TBX5
2embryonic heart tube left/right pattern formationGO:06097110.8NKX2-5, CITED2
3ventricular cardiac muscle tissue developmentGO:00322910.7TBX5, GATA4
4intestinal epithelial cell differentiationGO:06057510.7GATA4, GATA6
5nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryGO:190016410.7NODAL, CITED2
6atrioventricular valve morphogenesisGO:00318110.7TBX5, GATA4
7endocardial cushion developmentGO:00319710.7CITED2, GATA4, TBX5
8embryonic process involved in female pregnancyGO:06013610.7NODAL, CITED2
9atrial septum morphogenesisGO:06041310.7GATA4, TBX20, NKX2-5
10cardiac muscle cell differentiationGO:05500710.7TBX5, GATA6, NKX2-5
11cardiac right ventricle morphogenesisGO:00321510.7GATA4, TBX20
12oxalate transportGO:01953210.7SLC26A8, SLC26A7
13cardiac muscle hypertrophy in response to stressGO:01489810.7GATA6, BMP10, GATA4
14cardiac muscle tissue morphogenesisGO:05500810.7TBX20, NKX2-5
15response to estrogen stimulusGO:04362710.7CITED2, GATA6, GATA4
16ventricular cardiac muscle cell developmentGO:05501510.7BMP10, NKX2-5
17BMP signaling pathwayGO:03050910.6BMP10, GATA4, NKX2-5
18positive regulation of cardioblast differentiationGO:05189110.6GATA6, GATA4, NKX2-5, TBX5
19regulation of cardiac muscle contractionGO:05511710.6NKX2-5, BMP10
20endoderm formationGO:00170610.6GATA4, TBX20
21anion transportGO:00682010.6SLC26A8, SLC26A7
22male gonad developmentGO:00858410.6GATA6, GATA4, CITED2
23negative regulation of cell migrationGO:03033610.6BMP10, TBX5, CITED2
24cardiac muscle cell proliferationGO:06003810.6BMP10, NKX2-5
25positive regulation of cell-cell adhesionGO:02240910.6NODAL, CITED2
26pattern specification processGO:00738910.6TBX1, UNCX, TBX5
27lung developmentGO:03032410.6GLI1, ZIC3, TBX5
28liver developmentGO:00188910.6CITED2, NODAL, GATA6
29heart trabecula formationGO:06034710.6NKX2-5, BMP10
30outflow tract septum morphogenesisGO:00314810.6GATA6, TBX20, TBX1, NKX2-5
31determination of left/right symmetryGO:00736810.6ZIC3, CITED2, CFC1, TBX1
32adult heart developmentGO:00751210.6BMP10, NKX2-5
33pharyngeal system developmentGO:06003710.6NKX2-5, TBX1
34positive regulation of angiogenesisGO:04576610.6NODAL, GATA6, GATA4
35ventricular septum developmentGO:00328110.5GATA4, TBX5
36positive regulation of cardiac muscle cell proliferationGO:06004510.5BMP10, TBX20, TBX5, GATA4, GATA6
37sulfate transportGO:00827210.5SLC26A7, SLC26A8
38digestive tract morphogenesisGO:04854610.5NODAL, GLI1
39SMAD protein signal transductionGO:06039510.5GATA4, NODAL
40thyroid gland developmentGO:03087810.5NKX2-5, TBX1
41heart loopingGO:00194710.4ZIC3, CITED2, NKX2-5, TBX20, NODAL, GATA4
42positive regulation vascular endothelial growth factor productionGO:01057510.4NODAL, GATA4
43negative regulation of transcription from RNA polymerase II promoterGO:00012210.4NKX2-5, CITED2, TBX20, NODAL, GATA6
44ventricular septum morphogenesisGO:06041210.4CITED2, NKX2-5
45sarcomere organizationGO:04521410.3NKX2-5, BMP10
46positive regulation of transcription, DNA-dependentGO:04589310.3ZIC3, BMP10, GATA4, NKX2-5, TBX5, TBX1
47positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.3BMP10, NODAL
48positive regulation of transcription from RNA polymerase II promoterGO:04594410.2GATA6, NKX2-5, ZIC3, TBX5, GATA4, NODAL
49heart developmentGO:00750710.1CITED2, TBX1, TBX5
50embryonic placenta developmentGO:00189210.0CITED2, NODAL

Molecular functions related to Ventricular Septal Defect according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00097710.4TBX20, TBX5, GATA4
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.4NKX2-5, GLI1, GATA4, GATA6
3oxalate transmembrane transporter activityGO:01953110.4SLC26A7, SLC26A8
4RNA polymerase II transcription coactivator activityGO:00110510.3CITED2, TBX20
5anion:anion antiporter activityGO:01530110.3SLC26A8, SLC26A7
6chromatin bindingGO:00368210.2GLI1, GATA4, GATA6, NKX2-5, CITED2
7transcription regulatory region DNA bindingGO:04421210.2GATA4, GATA6, NKX2-5, GLI1
8sequence-specific DNA bindingGO:04356510.2ZIC3, GATA4, NKX2-5, TBX5, TBX1, UNCX
9sulfate transmembrane transporter activityGO:01511610.2SLC26A8, SLC26A7
10sequence-specific DNA binding transcription factor activityGO:00370010.0TBX20, TBX1, TBX5, NKX2-5, CITED2, GATA6
11transcription factor bindingGO:0081349.9GATA4, NKX2-5, TBX5, GATA6

Products for genes affiliated with Ventricular Septal Defect

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Sources for Ventricular Septal Defect

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet