MCID: ATR001
MIFTS: 44

Atrioventricular Septal Defect malady

Cardiovascular diseases, Endocrine diseases categories

Summaries for Atrioventricular Septal Defect

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 ventricular septal defect and tetralogy of fallot. An important gene associated with Atrioventricular Septal Defect is CRELD1 (cysteine-rich with EGF-like domains 1), and among its related pathways are Cardiomyocyte Differentiation through BMP Receptors and HOP Signaling. Affiliated tissues include heart, thyroid and testes, and related mouse phenotypes are respiratory system and embryogenesis.

Description from OMIM:46 600309

Aliases & Classifications for Atrioventricular Septal Defect

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Cardiovascular diseases, Endocrine diseases


Aliases & Descriptions:

atrioventricular septal defect 8 42 10 44
thyroid hormone plasma membrane transport defect 60
atrioventricular canal defect 8


External Ids:

Disease Ontology8 DOID:0050651
OMIM46 600309
ICD1025 Q21.2

Related Diseases for Atrioventricular Septal Defect

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17GeneCards, 18GeneDecks
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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 108)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect31.4GATA4, TBX5, NKX2-5
2tetralogy of fallot31.3NKX2-5, GATA6, GATA4
3heart septal defect30.9TBX5, NKX2-5, GATA4
4congenital heart defect30.6NKX2-5, GATA4, TBX5
5atrial heart septal defect30.4TBX5, NKX2-5, GATA4
6ebstein anomaly30.2TBX1
7patent ductus arteriosus30.2TBX1
8atrioventricular block30.2NKX2-5, GATA4
9noonan syndrome30.2GJA1, NKX2-5, GATA4
10down syndrome10.7
11thyroid hormone plasma membrane transport defect10.6
12double outlet right ventricle10.6
13dandy-walker like malformation with atrioventricular septal defect10.6
14hypertension10.6
15complete atrioventricular canal10.5
16atrioventricular septal defect 410.5
17atrioventricular septal defect 510.5
18partial atrioventricular canal10.4
19patent foramen ovale10.4
20glanzmann's thrombasthenia10.4
21takayasu's arteritis10.4
22congenital diaphragmatic hernia10.4
23urea cycle disorder10.4
24hereditary folate malabsorption10.4
25zap70-related severe combined immunodeficiency10.4
26acro-pectoro-renal field defect10.4
27ankle defects short stature10.4
28axial mesodermal dysplasia spectrum10.4
29branchial arch defects10.4
30cardioskeletal syndrome kuwaiti type10.4
31sacral defect with anterior meningocele10.4
32caudal regression syndrome10.4
33chylomicron retention disease10.4
34x-linked creatine deficiency10.4
35cystinosis, ocular nonnephropathic10.4
36hmg coa lyase deficiency10.4
37imerslund-grasbeck syndrome10.4
38defective apolipoprotein b-10010.4
39diaphragmatic hernia upper limb defects10.4
40peroxisome disorders10.4
41heart defect, tongue hamartoma and polysyndactyly10.4
42hermansky pudlak syndrome 210.4
43heterotaxy10.4
44red cell phospholipid defect with hemolysis10.4
45hyperthermia induced defects10.4
46lateral body wall defect10.4
47laterality defects dominant10.4
48limb reduction defect10.4
49overgrowth radial ray defect arthrogryposis10.4
50paraomphalocele10.4

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



Diseases related to atrioventricular septal defect

Clinical Features for Atrioventricular Septal Defect

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46OMIM
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Clinical features from OMIM:

600309

Drugs & Therapeutics for Atrioventricular 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 Atrioventricular Septal Defect

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Anatomical Context for Atrioventricular Septal Defect

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

32
Heart, Thyroid, Testes, Atrioventricular node

Animal Models for Atrioventricular Septal Defect or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.5GATA4, GATA6, NKX2-5, TBX1, DHCR7, GJA1
2MP:00053809.4GATA4, GATA6, NKX2-5, TBX5, TBX1, GJA1
3MP:00053699.3GJA1, GATA4, GATA6, PRKAB2, NKX2-5, TBX5
4MP:00053859.3GATA4, GATA6, NKX2-5, TBX5, TBX1, DHCR7
5MP:00028739.1GATA4, GATA6, NKX2-5, TBX5, TBX1, GJA1
6MP:00107688.9GATA6, PRKAB2, NKX2-5, TBX5, TBX1, DHCR7

Publications for Atrioventricular Septal Defect

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50PubMed
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Articles related to Atrioventricular Septal Defect:

(show top 50)    (show all 378)
idTitleAuthorsYear
1
Early postoperative outcomes following surgical repair of complete atrioventricular septal defects: is down syndrome a risk factor? (24201860)
2014
2
Fetal complete common atrioventricular canal defect: spontaneous closure of the ventricular septal defect--in utero anatomic evolution and postnatal outcomes. (23799731)
2013
3
Outcomes of repair of complete atrioventricular septal defect in the current era. (24057432)
2013
4
Unusual combination of hypoplastic left ventricle, atrioventricular septal defect with restrictive ventricular septal defect, and common arterial trunk. (23804879)
2012
5
Temporary atrioventricular complete block that develops following the transcatheter closure of ventricular septal defect. (22397051)
2012
6
Infective endocarditis in infancy after complete atrioventricular septal defect repair. (23804699)
2012
7
Intraoperative assessment of partial atrioventricular septal defect with a cleft mitral valve by real-time three-dimensional transesophageal echocardiography. (22344238)
2012
8
In adult patients undergoing redo surgery for left atrioventricular valve regurgitation after atrioventricular septal defect correction, is replacement superior to repair? (21398648)
2011
9
Late complete atrioventricular block and tricuspid regurgitation after percutaneous closure of a perimembranous ventricular septal defect. (20643421)
2010
10
Pericardial patch repair of the left atrioventricular valve in atrioventricular septal defect: long-term changes in the patch. (18402827)
2009
11
Surgery for complete atrioventricular septal defect: Is a uniform strategy applicable? (20300271)
2009
12
Plasma endothelin-1 and nitrate levels in Down's syndrome with complete atrioventricular septal defect-associated pulmonary hypertension: a comparison with non-Down's syndrome children. (18682983)
2009
13
Current options and outcomes for the management of atrioventricular septal defect. (19243971)
2009
14
Transesophageal real time three-dimensional echocardiography in assessment of partial atrioventricular septal defect. (19840076)
2009
15
Pulmonary stenosis development and reduction of pulmonary arterial hypertension in atrioventricular septal defect: a case report. (19758423)
2009
16
Clinical and genetic investigation of atrial septal defect with atrioventricular conduction defect in a large consanguineous Tunisian family. (18375255)
2008
17
Surgical treatment of complete atrioventricular septal defect with the two-patch technique: early-to-mid follow-up. (17766275)
2007
18
Atrioventricular septal defect with cor triatriatum sinister. (17760279)
2007
19
Primary surgical correction of transposition of the great arteries and atrioventricular septal defect associated with left isomerism. (16391973)
2006
20
Surgical repair of atrioventricular septal defect with common atrioventricular valve in early infancy. (17378041)
2006
21
Does Down syndrome affect the long-term results of complete atrioventricular septal defect when the defect is repaired during the first year of life? (15740947)
2005
22
Repair for partial and complete atrioventricular septal defect: single centre experience and long-term results. (16398320)
2005
23
Poor sensitivity of routine fetal anomaly ultrasound screening for antenatal detection of atrioventricular septal defect. (15253968)
2004
24
Single-stage repair of complete atrioventricular septal defect and coarctation of the aorta in neonate. (15384714)
2004
25
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. (12632326)
2003
26
Total correction of complete atrioventricular septal defect with tetralogy of Fallot. (14565719)
2003
27
Cheyne-Stokes respiration as an additional risk factor for pulmonary hypertension in a boy with trisomy 21 and atrioventricular septal defect. (11276140)
2001
28
Direct closure of ostium primum defect in the repair of atrioventricular septal defect. (11515878)
2001
29
Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple cafAc-au-lait spots: new acrocraniofacial dysostosis syndrome? (11424146)
2001
30
Cross-sectional echocardiographic assessment of atrioventricular septal defect: basic morphology and preoperative risk factors. (11466155)
2001
31
Transthoracic three-dimensional echocardiography in the preoperative assessment of atrioventricular septal defect morphology. (11078279)
2000
32
Aortopulmonary window associated with complete atrioventricular septal defect. (10838549)
2000
33
Pulmonary vascular disease in Down's syndrome with complete atrioventricular septal defect. (10946038)
2000
34
Atrioventricular septal defect in the fetus. (10561654)
1999
35
Partial atrioventricular septal defect causing confusion with rheumatic heart disease in children in Harare--case reports. (10746401)
1999
36
Long term follow-up of atrioventricular valve function after repair of atrioventricular septal defect. (10332113)
1999
37
Complete atrioventricular septal defect associated with tetralogy of fallot: surgical indications and results. (10598897)
1999
38
Midterm outcome of mitral valve regurgitation after repair of atrioventricular septal defect. (10910580)
1999
39
Primary repair is superior to initial palliation in children with atrioventricular septal defect and tetralogy of Fallot. (9832680)
1998
40
Atrioventricular septal defect and tetralogy of Fallot: a 15-year experience. (9504743)
1998
41
Anatomically sound, simplified approach to repair of "complete" atrioventricular septal defect. (9262599)
1997
42
Two-dimensional and Doppler echocardiography alone can adequately define preoperative anatomy and hemodynamic status before repair of complete atrioventricular septal defect in infants < 1 year old. (7930292)
1994
43
Patent ductus arteriosus in an infant with atrioventricular septal defect and pulmonary hypertension: diagnosis by transesophageal color flow echocardiography. (2036233)
1991
44
Two-patch repair of complete atrioventricular septal defect in the first year of life. Results and sequential assessment of atrioventricular valve function. (2299871)
1990
45
Cross sectional echocardiography for recognition of ventricular topology in atrioventricular septal defect. (2930666)
1989
46
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
47
Total correction of double-outlet right ventricle, atrial septal defect, pulmonic stenosis with a concordant atrioventricular relationship, dextrocardia and situs inversus. (15227112)
1983
48
Anatomical-embryological correlates in atrioventricular septal defect. (7073902)
1982
49
Atrioventricular canal ventricular septal defect with cleft mitral valve. Angiographic and echocardiographic features. (6214770)
1982
50
Ebstein's malformation of the left atrioventricular valve in corrected transposition, with subpulmonary stenosis and ventricular septal defect. (13780024)
1961

Genetic Variations for Atrioventricular Septal Defect

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Expression for genes affiliated with Atrioventricular Septal Defect

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1BioGPS, 15Gene 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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51QIAGEN, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Atrioventricular Septal Defect

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GO Terms for genes affiliated with Atrioventricular Septal Defect

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1bundle of His developmentGO:00316610.5TBX5, NKX2-5
2ventricular cardiac muscle tissue developmentGO:00322910.5GATA4, TBX5
3intestinal epithelial cell differentiationGO:06057510.5GATA4, GATA6
4atrioventricular valve morphogenesisGO:00318110.4TBX5, GATA4
5atrial septum morphogenesisGO:06041310.4NKX2-5, GATA4
6endocardial cushion developmentGO:00319710.4GATA4, CRELD1, TBX5
7cardiac muscle hypertrophy in response to stressGO:01489810.4GATA4, GATA6
8positive regulation of cardiac muscle cell proliferationGO:06004510.4GATA4, GATA6, TBX5
9cardiac muscle cell differentiationGO:05500710.4TBX5, NKX2-5, GATA6
10outflow tract septum morphogenesisGO:00314810.4TBX1, NKX2-5, GATA6
11adult heart developmentGO:00751210.3GJA1, NKX2-5
12heart loopingGO:00194710.3GJA1, NKX2-5, GATA4
13blood vessel morphogenesisGO:04851410.3GJA1, TBX1
14positive regulation of cardioblast differentiationGO:05189110.3TBX5, NKX2-5, GATA6, GATA4
15pharyngeal system developmentGO:06003710.2NKX2-5, TBX1
16ventricular septum developmentGO:00328110.2GATA4, TBX5
17thyroid gland developmentGO:03087810.1TBX1, NKX2-5
18heart developmentGO:00750710.0GJA1, TBX1, TBX5
19positive regulation of transcription from RNA polymerase II promoterGO:0459449.5GATA4, GATA6, NKX2-5, TBX5, TBX1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00097710.2TBX5, GATA4
2transcription factor bindingGO:0081349.8TBX5, NKX2-5, GATA6, GATA4
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.8NKX2-5, GATA6, GATA4

Products for genes affiliated with Atrioventricular Septal Defect

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Sources for Atrioventricular 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