ECD
MCID: ATR001
MIFTS: 58

Atrioventricular Septal Defect (ECD) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Endocrine diseases categories
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Summaries for Atrioventricular Septal Defect

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Disease Ontology:8 A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

MalaCards based summary: 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, lung and thyroid, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Wikipedia:65 Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as... more...

Descriptions from OMIM:46 606215,606217,600309,614430,614474

Aliases & Classifications for Atrioventricular Septal Defect

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Atrioventricular Septal Defect, Aliases & Descriptions:

Name: Atrioventricular Septal Defect 8 42 10 44
Thyroid Hormone Plasma Membrane Transport Defect 62
Atrioventricular Canal Defect 8
Endocardial Cushion Defect 8
 
Avsd 8
Avcd 8
Ecd 8


Classifications:



External Ids:

Disease Ontology8 DOID:0050651
ICD9CM27 745.6
ICD1025 Q21.2

Related Diseases for Atrioventricular Septal Defect

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Diseases in the Atrioventricular Septal Defect family:

Atrioventricular Septal Defect 1 Atrioventricular Septal Defect 2
Atrioventricular Septal Defect 3 Atrioventricular Septal Defect 4
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 101)
idRelated DiseaseScoreTop Affiliating Genes
1tetralogy of fallot31.9NKX2-5, GATA6, GATA4
2ventricular septal defect31.3NKX2-5, CLTCL1
3holt-oram syndrome31.0TBX5
4congenital heart disease31.0GATA4, TBX5
5ebstein anomaly30.8LIMS1
6noonan syndrome30.4EDN1, NKX2-5, GJA1, GATA4
7syndactyly30.4GJA1, DHCR7
8ischemia29.8EDN1, VEGFA, GJA1, GATA4
9down syndrome10.8
10dandy-walker like malformation with atrioventricular septal defect10.7
11hypertension10.6
12double outlet right ventricle10.6
13pulmonary hypertension10.6
14cor triatriatum10.6
15left ventricular outflow tract obstruction10.6
16complete atrioventricular canal10.6
17atrioventricular septal defect 410.6
18atrioventricular septal defect 510.6
19tetrology of fallot10.5NKX2-5
20hypoplastic left heart syndrome 110.5GJA1
21pulmonic stenosis10.5
22aortopulmonary window10.4
23heterotaxy10.4
24partial atrioventricular canal10.4
25atrioventricular septal defect 310.4
26cleft mitral valve10.4
27cor triatriatum sinister10.4
28atrioventricular block10.4GATA4, NKX2-5
29endodermal sinus tumor10.4GATA4, GATA6
30bardet-biedl syndrome10.4
31polydactyly10.4
32discrete subaortic stenosis10.4
33dextrocardia10.4
34endocarditis10.4
35transposition of the great arteries10.4
36atrioventricular septal defect 110.4
37atrioventricular septal defect 210.4
38atrioventricular septal defect, partial, with heterotaxy syndrome10.4
39double-orifice mitral valve10.4
40velocardiofacial syndrome10.3ZNF74
41heart septal defect10.3NKX2-5, TBX5, GATA4
42crouzon syndrome10.3
43right bundle branch block10.3
44subacute bacterial endocarditis10.3
45horseshoe kidney10.3
46ventricular septal defect 110.3
47atrial heart septal defect10.3NKX2-5, TBX5, GATA4
48cerebritis10.3
49developmental disabilities10.2GJA1, TBX5, DHCR7
50hypertrophic cardiomyopathy10.2

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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Clinical features from OMIM:

606215,606217,600309,614430,614474

Drugs & Therapeutics for Atrioventricular Septal Defect

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Drug clinical trials:

Search ClinicalTrials for Atrioventricular Septal Defect

Search NIH Clinical Center for Atrioventricular Septal Defect

Genetic Tests for Atrioventricular Septal Defect

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Anatomical Context for Atrioventricular Septal Defect

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MalaCards organs/tissues related to Atrioventricular Septal Defect:

32
Heart, Lung, Thyroid, Testes, Atrioventricular node

Animal Models for Atrioventricular Septal Defect or affiliated genes

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Publications for Atrioventricular Septal Defect

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Articles related to Atrioventricular Septal Defect:

(show top 50)    (show all 364)
idTitleAuthorsYear
1
Successful slide tracheoplasty and partial atrioventricular septal defect repair following extracorporeal membrane oxygenation support. (24698090)
2014
2
Post-operative left atrioventricular valve function after the staged repair of complete atrioventricular septal defect with tetralogy of Fallot. (24803092)
2014
3
Partial atrioventricular septal defect detected after transcatheter intervention. (23706449)
2013
4
Stunned atrioventricular node from left ventricular angiography in a patient with repaired atrioventricular septal defect. (23052672)
2013
5
8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly. (23404914)
2013
6
Outcome after repair of atrioventricular septal defect with tetralogy of Fallot. (21855095)
2012
7
Anatomical repair of double outlet right ventricle associated with complete atrioventricular septal defect and pulmonary stenosis: extending the indications for aortic translocation. (22364399)
2012
8
Surgical management of complete atrioventricular septal defect: associations with surgical technique, age, and trisomy 21. (21163497)
2011
9
Left ventricular outflow tract obstruction after the modified single patch repair of atrioventricular septal defects: teasing fact from fiction. (20338382)
2010
10
Electrophysiologic and anatomical relationships studied in primum atrioventricular septal defect. (19959185)
2010
11
Partial and transitional atrioventricular septal defect outcomes. (20103337)
2010
12
Results of surgical repair of atrioventricular septal defect with double-orifice left atrioventricular valve. (19660422)
2009
13
Pericardial patch repair of the left atrioventricular valve in atrioventricular septal defect: long-term changes in the patch. (18402827)
2009
14
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
15
Acquired left atrial-to-right ventricular shunt with mitral valve incompetence: a rare sequela after repair of atrioventricular septal defect. (19436792)
2009
16
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
17
Outcome following prenatal diagnosis of complete atrioventricular septal defect. (18236422)
2008
18
Cor triatriatum and partial atrioventricular septal defect. (17308943)
2007
19
Primary surgical correction of transposition of the great arteries and atrioventricular septal defect associated with left isomerism. (16391973)
2006
20
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect. (16470696)
2006
21
Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome. (15276542)
2004
22
Poor sensitivity of routine fetal anomaly ultrasound screening for antenatal detection of atrioventricular septal defect. (15253968)
2004
23
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. (12632326)
2003
24
Simplified technique for patch augmentation and chorda reconstruction of left atrioventricular valve in complete atrioventricular septal defect. (12809400)
2003
25
Atrioventricular septal defect--associated anomalies and aneuploidy in prenatal life. (12881623)
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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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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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 events37
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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Compounds related to Atrioventricular Septal Defect according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1bq78844 2811.0EDN1, VEGFA
2panitumumab44 50 1112.0VEGFA, EGF
3zd64744410.0EGF, VEGFA
4staurosporin449.9EGF, GJA1
5capecitabine44 50 1111.9EGF, VEGFA
6ro 31 8220449.9VEGFA, EGF
7chelerythrine449.9EGF, GJA1, EDN1
8pd153035449.8EGF, VEGFA
9carvedilol44 50 28 1112.8GJA1, VEGFA, EDN1
10progestin449.7VEGFA, GJA1, EGF
11cetuximab44 50 1111.7EGF, VEGFA
12ang ii449.7EDN1, VEGFA, EGF
13apocynin44 6110.6VEGFA, EDN1
14carbenoxolone44 28 1111.6GJA1, EDN1
15gf 109203x44 6110.6EGF, VEGFA, EDN1
16matrigel449.6EGF, GATA4, GJA1, VEGFA
17doxorubicin44 50 1111.5EGF, GATA4, GJA1, VEGFA
18sb 20358044 6110.4EGF, GJA1, VEGFA, EDN1
19genistein44 28 61 2 24 1114.4EDN1, VEGFA, GJA1, EGF
20pge2449.3EDN1, VEGFA, GJA1, EGF
21retinoic acid44 2410.3TBX5, GJA1, GATA6, GATA4, EGF
22cycloheximide449.1EDN1, VEGFA, GJA1, EGF

GO Terms for genes affiliated with Atrioventricular Septal Defect

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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:00097710.0GATA4, TBX5
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.8GATA4, GATA6, NKX2-5
3transcription factor bindingGO:0081349.6NKX2-5, TBX5, GATA6, GATA4
4transcription regulatory region DNA bindingGO:0442129.5GATA4, GATA6, NKX2-5
5sequence-specific DNA binding transcription factor activityGO:0037008.9ZNF74, NKX2-5, TBX5, GATA6, GATA4
6protein bindingGO:0055156.6EGF, EDN1, VEGFA, CLTCL1, LIMS1, PRKAB2

Products for genes affiliated with Atrioventricular Septal Defect

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Sources for Atrioventricular Septal Defect

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3CDC
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14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
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47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
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