MCID: VNT002
MIFTS: 53

Ventricular Septal Defect malady

Summaries for Ventricular Septal Defect

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63Wikipedia, 32MalaCards
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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, Colon, Liver, Atrioventricular node, Pineal

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
Constrictive pericarditis developed after childhood repair of ventricular septal defect. (23910801)
2013
2
Ventricular septal dysfunction after surgical closure of multiple ventricular septal defects. (23895887)
2013
3
Ventricular Septal Defect Complicated by Infantile Lobar Emphysema. (24200662)
2013
4
QTc Prolongation after Ventricular Septal Defect Repair in Infants. (24385994)
2013
5
Perventricular closure on the beating heart: an effective hybrid approach in managing a postinfarction apical ventricular septal defect. (23186161)
2013
6
Perventricular closure of a perimembranous ventricular septal defect. (24413002)
2013
7
Ventricular septal defect closure in a child with osteogenesis imperfecta: risk factors and management. (24182511)
2013
8
Perventricular device closure of perimembranous ventricular septal defect in pediatric patients: technical and morphological considerations. (23564538)
2013
9
Disparity in right vs left ventricular recovery during follow-up after ventricular septal defect correction in children. (23407159)
2013
10
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. (23956225)
2013
11
Comparison of cardioprotective effects of volatile anesthetics in children undergoing ventricular septal defect closure. (23799751)
2013
12
Surgical repair of ventricular septal defect after myocardial infarction: outcomes from the Society of Thoracic Surgeons National Database. (22626761)
2012
13
Perforation of sinus Valsalva 10 years after repair of ventricular septal defect. (22718735)
2012
14
Discrete subaortic stenosis 37 years after repair of a ventricular septal defect. (22286601)
2012
15
What other anomalies? Failure to wean post ventricular septal defect repair secondary to anomalous origin of the left coronary artery from the pulmonary artery. (22229525)
2012
16
Management of recurrent leaks following postinfarction ventricular septal defect repairs. (22882412)
2012
17
Management and midterm outcomes of post-infarction ventricular septal defect. (23284107)
2012
18
Transcatheter patch occlusion of ventricular septal defect in Down syndrome. (21481831)
2011
19
Natural internal banding in adult patients with a large ventricular septal defect and a preserved pulmonary vascular system. (21676691)
2011
20
The chance finding of an aneurysm of the right sinus of Valsalva in an 11-year-old child with a ventricular septal defect and a pericardial effusion. (19345425)
2011
21
Percutaneous closure of perimembranous ventricular septal defect with an Amplatzer Duct Occluder in a dextrocardia patient. (19959248)
2011
22
Cognitive P300-evoked potentials in school-age children after surgical or transcatheter intervention for ventricular septal defect. (21624005)
2011
23
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. (20569525)
2010
24
Vegetation with ventricular septal defect detected by cardiac magnetic resonance imaging. (20075557)
2010
25
Staged repair of pulmonary atresia, ventricular septal defect, and major systemic to pulmonary artery collaterals. (21234192)
2010
26
Respiratory variation in aortic blood flow velocity as a predictor of fluid responsiveness in children after repair of ventricular septal defect. (20703453)
2010
27
Posttraumatic coronary artery-right ventricular fistula with multiple ventricular septal defects. (20412356)
2010
28
Acute ischaemic ventricular septal defect--a formidable surgical challenge. (19914868)
2010
29
Double chamber right ventricle in a patient with supracristal ventricular septal defect and prolapsing right coronary cusp: role of intraoperative transesophageal echocardiography. (19359138)
2009
30
Muscular ventricular septal defect visualized as nonreversible perfusion abnormality on myocardial perfusion SPECT and confirmed on cardiac computed tomography angiography images. (19352283)
2009
31
Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (18575288)
2008
32
Modified Echocardiographic views for concordant atrio-ventricular connection with discordant ventriculo-arterial connection or double outlet right ventricle and sub-pulmonary ventricular septal defect. (22368672)
2007
33
Clinical results of staged repair with complete unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. (17512210)
2007
34
Correlation of plasma B-type natriuretic peptide with shunt severity in patients with atrial or ventricular septal defect. (17530321)
2007
35
Diagnostic value of plasma concentration of pro-brain natriuretic peptide in congestive heart failure in pediatric patients with ventricular septal defects]. (15833183)
2005
36
Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis. (10754091)
2000
37
Extending the concept of the autograft for complete repair of transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: a report of ten cases of a modified procedure. (9375604)
1997
38
Lecompte operation with preservation of the pulmonary valve for anomalies of ventriculoarterial connection with ventricular septal defect and subpulmonary stenosis. (8855434)
1996
39
Detection of major aortopulmonary collateral arteries by transesophageal echocardiography in pulmonary atresia with ventricular septal defect. (8237775)
1993
40
Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect. (1338056)
1992
41
Cor triatriatum, coarctation of the aorta, and ventricular septal defect: a rare, surgically correctable anomaly. (2310258)
1990
42
Pulmonary atresia with ventricular septal defect and coronary artery fistula: a late presentation. (3179145)
1988
43
Tricuspid atresia with transposition of the great vessels, coarctation of aorta, atrial and ventricular septal defect. (3611804)
1987
44
Combined discrete subaortic stenosis and ventricular septal defect in infants and children. (6539057)
1984
45
Late survival of a patient with ventricular septal defect and Eisenmenger syndrome. (7181169)
1982
46
Growth and development of pulmonary circulation in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. (7426156)
1980
47
Pulmonary atresia with ventricular septal defect: report of the oldest known surviving case. (123847)
1975
48
Anatomic correction of transposition of the great arteries with ventricular septal defect and subpulmonary stenosis. (5387997)
1969
49
Bronchopulmonary arterial communications in pulmonary atresia with ventricular septal defect. (5811539)
1969
50
Ventricular septal defect with aortic incompetence. (13635132)
1959

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

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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
1embryonic heart tube left/right pattern formationGO:06097110.8NKX2-5, CITED2
2bundle of His developmentGO:00316610.8NKX2-5, TBX5
3ventricular cardiac muscle tissue developmentGO:00322910.7TBX5, GATA4
4intestinal epithelial cell differentiationGO:06057510.7GATA4, GATA6
5atrioventricular valve morphogenesisGO:00318110.7GATA4, TBX5
6nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryGO:190016410.7NODAL, CITED2
7endocardial cushion developmentGO:00319710.7TBX5, GATA4, CITED2
8embryonic process involved in female pregnancyGO:06013610.7CITED2, NODAL
9atrial septum morphogenesisGO:06041310.7TBX20, GATA4, NKX2-5
10cardiac muscle cell differentiationGO:05500710.7TBX5, NKX2-5, GATA6
11cardiac right ventricle morphogenesisGO:00321510.7TBX20, GATA4
12oxalate transportGO:01953210.7SLC26A7, SLC26A8
13cardiac muscle hypertrophy in response to stressGO:01489810.7BMP10, GATA4, GATA6
14response to estrogen stimulusGO:04362710.7GATA4, GATA6, CITED2
15cardiac muscle tissue morphogenesisGO:05500810.7TBX20, NKX2-5
16BMP signaling pathwayGO:03050910.6BMP10, GATA4, NKX2-5
17ventricular cardiac muscle cell developmentGO:05501510.6BMP10, NKX2-5
18positive regulation of cardioblast differentiationGO:05189110.6GATA4, GATA6, NKX2-5, TBX5
19regulation of cardiac muscle contractionGO:05511710.6NKX2-5, BMP10
20endoderm formationGO:00170610.6TBX20, GATA4
21anion transportGO:00682010.6SLC26A7, SLC26A8
22male gonad developmentGO:00858410.6CITED2, GATA6, GATA4
23negative regulation of cell migrationGO:03033610.6BMP10, TBX5, CITED2
24cardiac muscle cell proliferationGO:06003810.6BMP10, NKX2-5
25positive regulation of cell-cell adhesionGO:02240910.6CITED2, NODAL
26pattern specification processGO:00738910.6TBX1, TBX5, UNCX
27lung developmentGO:03032410.6GLI1, ZIC3, TBX5
28liver developmentGO:00188910.6GATA6, NODAL, CITED2
29adult heart developmentGO:00751210.6NKX2-5, BMP10
30outflow tract septum morphogenesisGO:00314810.6GATA6, TBX20, TBX1, NKX2-5
31ventricular septum developmentGO:00328110.6TBX5, GATA4
32determination of left/right symmetryGO:00736810.6CFC1, CITED2, ZIC3, TBX1
33heart trabecula formationGO:06034710.6NKX2-5, BMP10
34positive regulation of angiogenesisGO:04576610.6GATA6, NODAL, GATA4
35pharyngeal system developmentGO:06003710.5NKX2-5, TBX1
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
40positive regulation vascular endothelial growth factor productionGO:01057510.5NODAL, GATA4
41heart loopingGO:00194710.4ZIC3, CITED2, NKX2-5, TBX20, NODAL, GATA4
42thyroid gland developmentGO:03087810.4NKX2-5, TBX1
43negative regulation of transcription from RNA polymerase II promoterGO:00012210.4TBX20, NKX2-5, CITED2, GATA6, NODAL
44ventricular septum morphogenesisGO:06041210.4CITED2, NKX2-5
45sarcomere organizationGO:04521410.3NKX2-5, BMP10
46embryonic cranial skeleton morphogenesisGO:04870110.3NODAL, TBX1
47positive regulation of transcription, DNA-dependentGO:04589310.3CITED2, ZIC3, GATA4, BMP10, NKX2-5, GLI1
48positive regulation of transcription from RNA polymerase II promoterGO:04594410.2GATA6, NKX2-5, GATA4, ZIC3, TBX5, NODAL
49heart developmentGO:00750710.1TBX5, TBX1, CITED2
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:00097710.4GATA4, TBX5, TBX20
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.4GATA4, GATA6, NKX2-5, GLI1
3oxalate transmembrane transporter activityGO:01953110.4SLC26A8, SLC26A7
4RNA polymerase II transcription coactivator activityGO:00110510.3TBX20, CITED2
5anion:anion antiporter activityGO:01530110.3SLC26A8, SLC26A7
6chromatin bindingGO:00368210.2GATA4, GATA6, CITED2, NKX2-5, GLI1
7transcription regulatory region DNA bindingGO:04421210.2GATA4, GATA6, NKX2-5, GLI1
8sequence-specific DNA bindingGO:04356510.2TBX1, TBX5, NKX2-5, GATA4, UNCX, ZIC3
9sulfate transmembrane transporter activityGO:01511610.2SLC26A8, SLC26A7
10sequence-specific DNA binding transcription factor activityGO:00370010.0TBX20, ZIC3, UNCX, GATA4, GATA6, CITED2
11transcription factor bindingGO:0081349.9GATA4, GATA6, NKX2-5, TBX5

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