MCID: ATR001
MIFTS: 52

Atrioventricular Septal Defect malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Endocrine diseases categories

Summaries for Atrioventricular Septal Defect

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as... more...

MalaCards: Atrioventricular Septal Defect, also known as thyroid hormone plasma membrane transport defect, is related to tetralogy of fallot and ventricular septal defect. An important gene associated with Atrioventricular Septal Defect is CRELD1 (cysteine-rich with EGF-like domains 1), and among its related pathways are HOP Signaling and Cardiomyocyte Differentiation through BMP Receptors. The compounds bq788 and panitumumab have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and testes, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Description from OMIM:48 600309

Aliases & Classifications for Atrioventricular Septal Defect

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 26ICD10
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Classifications:



Aliases & Descriptions:

atrioventricular septal defect 9 44 11 46
thyroid hormone plasma membrane transport defect 63
atrioventricular canal defect 9


External Ids:

Disease Ontology9 DOID:0050651
OMIM48 600309
ICD1026 Q21.2

Related Diseases for Atrioventricular Septal Defect

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18GeneCards, 19GeneDecks
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Diseases in the Atrioventricular Septal Defect 4 family:

atrioventricular septal defect Atrioventricular Septal Defect 1
Atrioventricular Septal Defect 2 Atrioventricular Septal Defect 3
Atrioventricular Septal Defect 5

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1tetralogy of fallot31.5NKX2-5, GATA6, GATA4
2ventricular septal defect30.9NKX2-5, CLTCL1
3ebstein anomaly30.4LIMS1
4congenital heart disease30.4GATA4, TBX5
5noonan syndrome30.3EDN1, NKX2-5, GJA1, GATA4
6syndactyly30.3GJA1, DHCR7
7down syndrome10.7
8dandy-walker like malformation with atrioventricular septal defect10.7
9double outlet right ventricle10.6
10hypertension10.6
11cor triatriatum10.6
12left ventricular outflow tract obstruction10.5
13complete atrioventricular canal10.5
14atrioventricular septal defect 410.5
15atrioventricular septal defect 510.5
16aortopulmonary window10.4
17heterotaxy10.4
18partial atrioventricular canal10.4
19cleft mitral valve10.4
20cor triatriatum sinister10.4
21bardet-biedl syndrome10.3
22polydactyly10.3
23dextrocardia10.3
24discrete subaortic stenosis10.3
25endocarditis10.3
26vascular disease10.3
27transposition of the great arteries10.3
28atrioventricular septal defect 110.3
29atrioventricular septal defect 210.3
30atrioventricular septal defect, partial, with heterotaxy syndrome10.3
31atrioventricular septal defect 310.3
32double-orifice mitral valve10.3
33hypertrophic cardiomyopathy10.2
34seckel syndrome10.2
35congenitally corrected transposition of the great arteries10.2
36left ventricular noncompaction10.2
37fixed subaortic stenosis10.2
38rheumatic heart disease10.2
39patent ductus arteriosus10.2
40subclavian steal syndrome10.2
41dysostosis10.2
42hemolytic anemia10.2
43infective endocarditis10.2
44williams syndrome10.2
45shwachman-diamond syndrome10.2
46alveolar capillary dysplasia10.2
47atrial septal defect ostium primum10.2
48mosaic trisomy 610.2
49tricuspid atresia10.2
50aneurysm10.2

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



Diseases related to atrioventricular septal defect

Symptoms for Atrioventricular Septal Defect

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48OMIM
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Clinical features from OMIM:

600309

Drugs & Therapeutics for Atrioventricular Septal Defect

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Atrioventricular Septal Defect

Search NIH Clinical Center for Atrioventricular Septal Defect

Search CenterWatch for Atrioventricular Septal Defect

Genetic Tests for Atrioventricular Septal Defect

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Anatomical Context for Atrioventricular Septal Defect

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34MalaCards
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MalaCards organs/tissues related to Atrioventricular Septal Defect:

34
Heart, Thyroid, Testes, Atrioventricular node

Animal Models for Atrioventricular Septal Defect or affiliated genes

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38MGI
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Publications for Atrioventricular Septal Defect

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53PubMed
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Articles related to Atrioventricular Septal Defect:

(show top 50)    (show all 344)
idTitleAuthorsYear
1
Partial atrioventricular septal defect detected after transcatheter intervention. (23706449)
2013
2
Stunned atrioventricular node from left ventricular angiography in a patient with repaired atrioventricular septal defect. (23052672)
2013
3
8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly. (23404914)
2013
4
Outcome after repair of atrioventricular septal defect with tetralogy of Fallot. (21855095)
2012
5
Anatomical repair of double outlet right ventricle associated with complete atrioventricular septal defect and pulmonary stenosis: extending the indications for aortic translocation. (22364399)
2012
6
Surgical management of complete atrioventricular septal defect: associations with surgical technique, age, and trisomy 21. (21163497)
2011
7
Left ventricular outflow tract obstruction after the modified single patch repair of atrioventricular septal defects: teasing fact from fiction. (20338382)
2010
8
Electrophysiologic and anatomical relationships studied in primum atrioventricular septal defect. (19959185)
2010
9
Partial and transitional atrioventricular septal defect outcomes. (20103337)
2010
10
Results of surgical repair of atrioventricular septal defect with double-orifice left atrioventricular valve. (19660422)
2009
11
Pericardial patch repair of the left atrioventricular valve in atrioventricular septal defect: long-term changes in the patch. (18402827)
2009
12
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
13
Acquired left atrial-to-right ventricular shunt with mitral valve incompetence: a rare sequela after repair of atrioventricular septal defect. (19436792)
2009
14
The angle of the components of the common atrioventricular valve predicts the outcome of surgical correction in patients with atrioventricular septal defect and common atrioventricular junction. (18558474)
2008
15
Outcome following prenatal diagnosis of complete atrioventricular septal defect. (18236422)
2008
16
Cor triatriatum and partial atrioventricular septal defect. (17308943)
2007
17
Primary surgical correction of transposition of the great arteries and atrioventricular septal defect associated with left isomerism. (16391973)
2006
18
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect. (16470696)
2006
19
Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome. (15276542)
2004
20
Poor sensitivity of routine fetal anomaly ultrasound screening for antenatal detection of atrioventricular septal defect. (15253968)
2004
21
Left atrioventricular valve regurgitation after repair of incomplete atrioventricular septal defect. (15172287)
2004
22
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. (12632326)
2003
23
Simplified technique for patch augmentation and chorda reconstruction of left atrioventricular valve in complete atrioventricular septal defect. (12809400)
2003
24
Atrioventricular septal defect--associated anomalies and aneuploidy in prenatal life. (12881623)
2003
25
Total correction of complete atrioventricular septal defect with tetralogy of Fallot. (14565719)
2003
26
Two-patch repair of complete atrioventricular septal defect using a small ventricular patch. (12440648)
2002
27
Adult presentation of complete atrioventricular septal defect. (12538289)
2002
28
Transthoracic three-dimensional echocardiography in the preoperative assessment of atrioventricular septal defect morphology. (11078279)
2000
29
Atrioventricular septal defect in the fetus. (10561654)
1999
30
Complete atrioventricular septal defect and Ebstein's anomaly. (10089255)
1999
31
Morphometric analysis of atrioventricular septal defect with common valve orifice. (9426043)
1998
32
Does the size of the ventricular structure differ between Down's and non-Down's patients, or between the Rastelli subtypes in complete atrioventricular septal defect? (9761110)
1998
33
Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. (9930496)
1998
34
Repair of tetralogy of Fallot associated with atrioventricular septal defect. (9680280)
1998
35
Amrinone versus dopamine-nitroglycerin after reconstructive surgery for complete atrioventricular septal defect. (9412887)
1997
36
Anatomically sound, simplified approach to repair of "complete" atrioventricular septal defect. (9262599)
1997
37
Ten-year experience with surgical treatment of partial atrioventricular septal defect: risk factors in the early postoperative period. (8691859)
1996
38
Complete atrioventricular septal defect with tetralogy of Fallot: diagnosis and management. (8043343)
1994
39
Transatrial-transpulmonary repair of atrioventricular septal defect with right ventricular outflow tract obstruction. (8286866)
1993
40
Atypical form of atrioventricular septal defect without left axis deviation: relation between morphology and unusual QRS axis. (8038031)
1993
41
Surgical repair of Ebstein's malformation associated with atrioventricular septal defect (atrioventricular canal). (1434738)
1992
42
Intraoperative transesophageal echocardiography of atrioventricular septal defect. (1856424)
1991
43
Cross-sectional echocardiography in the diagnosis of atrioventricular septal defect. (2365528)
1990
44
Repair of complete atrioventricular septal defect with tetralogy of Fallot. (2400260)
1990
45
Correction of atrioventricular septal defect. Results influenced by Down syndrome? (2530895)
1989
46
Intraoperative evaluation of atrioventricular septal defect repair by color flow mapping echocardiography. (2802855)
1989
47
Left atrial isomerism combined with right-sided heart, common atrium, incomplete atrioventricular septal defect and partial anomalous systemic and pulmonary venous drainage. Report of a case with successful surgical correction. (3397202)
1988
48
Ostium primum atrioventricular septal defect: an anatomical and surgical review. (3963928)
1986
49
Atrioventricular septal defect with a well developed primary component of the atrial septum ("septum primum"). (2932397)
1985
50
Left atrioventricular valve in atrioventricular septal defect. (6711449)
1984

Variations for Atrioventricular Septal Defect

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Expression for genes affiliated with Atrioventricular Septal Defect

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atrioventricular Septal Defect

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

Pathways for genes affiliated with Atrioventricular Septal Defect

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51PathCards, 54QIAGEN, 56Reactome, 39NCBI BioSystems Database, 61Thomson Reuters, 31KEGG
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Pathways related to Atrioventricular Septal Defect according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0NKX2-5, GATA4
210.0NKX2-5, GATA4
3
Show member pathways
10.0GJA1, CLTCL1
49.9GATA4, EDN1
59.8GATA4, TBX5, NKX2-5
6
Show member pathways
9.8GATA4, TBX5, NKX2-5
7
Show member pathways
EGFR-dependent Endothelin signaling events39
9.8EGF, EDN1
8
Show member pathways
9.7EDN1, VEGFA
99.7EGF, VEGFA
10
Show member pathways
9.7GATA6, GATA4, EGF
119.5EDN1, GATA4, EGF
12
Show member pathways
9.4NKX2-5, GATA6, GATA4, EGF
139.3EGF, VEGFA, EDN1
14
Show member pathways
9.3GJA1, PRKAB2, CLTCL1
15
Show member pathways
9.3VEGFA, GATA6, GATA4, EGF
169.1GATA4, GATA6, TBX5, NKX2-5, VEGFA

Compounds for genes affiliated with Atrioventricular Septal Defect

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46Novoseek, 30IUPHAR, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 3BitterDB, 25HMDB
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Compounds related to Atrioventricular Septal Defect according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1bq78846 3011.0EDN1, VEGFA
2panitumumab46 52 1212.0VEGFA, EGF
3zd64744610.0EGF, VEGFA
4staurosporin469.9EGF, GJA1
5capecitabine46 52 1211.9EGF, VEGFA
6ro 31 8220469.9VEGFA, EGF
7chelerythrine469.9EGF, GJA1, EDN1
8pd153035469.8EGF, VEGFA
9carvedilol46 52 30 1212.8GJA1, VEGFA, EDN1
10progestin469.7VEGFA, GJA1, EGF
11cetuximab46 52 1211.7EGF, VEGFA
12ang ii469.7EDN1, VEGFA, EGF
13apocynin46 6210.6VEGFA, EDN1
14carbenoxolone46 30 1211.6GJA1, EDN1
15gf 109203x46 6210.6EGF, VEGFA, EDN1
16matrigel469.6EGF, GATA4, GJA1, VEGFA
17doxorubicin46 52 1211.5EGF, GATA4, GJA1, VEGFA
18sb 20358046 6210.4EGF, GJA1, VEGFA, EDN1
19genistein46 30 62 3 25 1214.4EDN1, VEGFA, GJA1, EGF
20pge2469.3EDN1, VEGFA, GJA1, EGF
21retinoic acid46 2510.3TBX5, GJA1, GATA6, GATA4, EGF
22cycloheximide469.1EDN1, VEGFA, GJA1, EGF

GO Terms for genes affiliated with Atrioventricular Septal Defect

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17Gene Ontology
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Cellular components related to Atrioventricular Septal Defect according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.8GATA6, TBX5, NKX2-5

Biological processes related to Atrioventricular Septal Defect according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1intestinal epithelial cell differentiationGO:06057510.4GATA6, GATA4
2ventricular cardiac muscle tissue developmentGO:00322910.4TBX5, GATA4
3bundle of His developmentGO:00316610.4NKX2-5, TBX5
4atrioventricular valve morphogenesisGO:00318110.3GATA4, TBX5
5cardiac muscle hypertrophy in response to stressGO:01489810.3GATA4, GATA6
6negative regulation of cardiac muscle cell proliferationGO:06004410.3GJA1, TBX5
7outflow tract septum morphogenesisGO:00314810.3GATA6, NKX2-5
8ventricular septum developmentGO:00328110.3TBX5, GATA4
9endocardial cushion developmentGO:00319710.2CRELD1, TBX5, GATA4
10positive regulation of cardiac muscle cell proliferationGO:06004510.2GATA4, GATA6, TBX5
11atrial septum morphogenesisGO:06041310.2GATA4, TBX5, NKX2-5
12cardiac muscle cell differentiationGO:05500710.1NKX2-5, TBX5, GATA6
13mammary gland alveolus developmentGO:06074910.0EGF, VEGFA
14positive regulation of angiogenesisGO:0457669.9VEGFA, GATA6, GATA4
15positive regulation of cardioblast differentiationGO:0518919.9GATA4, GATA6, TBX5, NKX2-5
16positive regulation of mitosisGO:0458409.9EDN1, EGF
17heart developmentGO:0075079.9EDN1, TBX5, GJA1
18neuron projection morphogenesisGO:0488129.8SRGAP2, GJA1
19branching morphogenesis of an epithelial tubeGO:0487549.8VEGFA, EGF
20lung developmentGO:0303249.8VEGFA, DHCR7, TBX5
21heart morphogenesisGO:0030079.8NKX2-5, VEGFA
22cell-cell signalingGO:0072679.8GATA4, GJA1, TBX5, EDN1
23positive regulation of endothelial cell migrationGO:0105959.7VEGFA, EDN1
24positive regulation of MAP kinase activityGO:0434069.7EGF, VEGFA, EDN1
25in utero embryonic developmentGO:0017019.6GATA4, GATA6, VEGFA, EDN1
26positive regulation of transcription, DNA-templatedGO:0458939.6EGF, GATA4, TBX5, NKX2-5
27blood coagulationGO:0075969.5VEGFA, GATA6, GATA4, EGF
28positive regulation of transcription from RNA polymerase II promoterGO:0459449.4VEGFA, NKX2-5, TBX5, GATA6, GATA4
29patterning of blood vesselsGO:0015699.4VEGFA, EDN1
30positive regulation of cell proliferationGO:0082849.3EGF, NKX2-5, VEGFA, EDN1
31negative regulation of transcription from RNA polymerase II promoterGO:0001229.3EDN1, VEGFA, NKX2-5, GATA6

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00097710.0TBX5, GATA4
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.8NKX2-5, GATA4, GATA6
3transcription factor bindingGO:0081349.6TBX5, GATA6, GATA4, NKX2-5
4transcription regulatory region DNA bindingGO:0442129.5GATA4, GATA6, NKX2-5
5sequence-specific DNA binding transcription factor activityGO:0037008.9ZNF74, TBX5, GATA4, GATA6, NKX2-5
6protein bindingGO:0055156.6TBX5, GATA6, GJA1, NKX2-5, SRGAP2, PRKAB2

Products for genes affiliated with Atrioventricular Septal Defect

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Sources for Atrioventricular Septal Defect

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet