MCID: ATR001
MIFTS: 42

Atrioventricular Septal Defect malady

Cardiovascular, Endocrine categories

Summaries for Atrioventricular Septal Defect

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 ebstein anomaly. 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 atrioventricular node, and related mouse phenotypes are respiratory system and embryogenesis.

Description from OMIM:47 600309

Aliases & Classifications for Atrioventricular Septal Defect

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

atrioventricular septal defect 8 43 10 45
thyroid hormone plasma membrane transport defect 61
atrioventricular canal defect 8


External Ids:

Disease Ontology8 DOID:0050651
OMIM47 600309
ICD1025 Q21.2

Related Diseases for Atrioventricular Septal Defect

Sources:
17GeneCards, 18GeneDecks
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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 120)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect31.4GATA4, TBX5, NKX2-5
2ebstein anomaly30.7TBX1
3atrial heart septal defect30.5TBX5, NKX2-5, GATA4
4patent ductus arteriosus30.2TBX1
5noonan syndrome30.2GJA1, NKX2-5, GATA4
6atrioventricular block30.2NKX2-5, GATA4
7down syndrome10.7
8thyroid hormone plasma membrane transport defect10.6
9dandy-walker like malformation with atrioventricular septal defect10.6
10left ventricular outflow tract obstruction10.5
11atrioventricular septal defect 110.5
12atrioventricular septal defect 210.5
13atrioventricular septal defect 410.5
14atrioventricular septal defect 510.5
15aortopulmonary window10.4
16complete atrioventricular canal10.4
17heterotaxy10.4
18cleft mitral valve10.4
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
43red cell phospholipid defect with hemolysis10.4
44hyperthermia induced defects10.4
45lateral body wall defect10.4
46laterality defects dominant10.4
47limb reduction defect10.4
48overgrowth radial ray defect arthrogryposis10.4
49paraomphalocele10.4
50reductional transverse limb defects10.4

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



Diseases related to atrioventricular septal defect

Clinical Features for Atrioventricular Septal Defect

Sources:
47OMIM
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Clinical features from OMIM:

600309

Drugs & Therapeutics for Atrioventricular Septal Defect

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Atrioventricular Septal Defect

Drug clinical trials:

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Search NIH Clinical Center for Atrioventricular Septal Defect

Search CenterWatch for Atrioventricular Septal Defect

Genetic Tests for Atrioventricular Septal Defect

Anatomical Context for Atrioventricular Septal Defect

Sources:
33MalaCards
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MalaCards organs/tissues related to Atrioventricular Septal Defect:

33
Heart, Thyroid, Atrioventricular node

Animal Models for Atrioventricular Septal Defect or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Atrioventricular Septal Defect:

37
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

Sources:
51PubMed
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Articles related to Atrioventricular Septal Defect:

(show top 50)    (show all 378)
idTitleAuthorsYear
1
Association Between Anemia and Packed Cell Transfusion and Outcomes of Ventricular Septal Defect and Atrioventricular Canal Repair in Children. (24154503)
2013
2
Surgical management of neonatal atrioventricular septal defect with aortic arch obstruction. (23415240)
2013
3
Comparison of Two Surgical Techniques for Complete Atrioventricular Septal Defect Repair Using Two- and Three-Dimensional Echocardiography. (24022512)
2013
4
Surgical Management of Complete Atrioventricular Septal Defect with Tetralogy of Fallot. (24088923)
2013
5
The application of on-pump beating-heart surgery for partial atrioventricular septal defect: a report of 87 cases. (24217239)
2013
6
Interrupted aortic arch and aortopulmonary window associated with complete atrioventricular septal defect. (22410516)
2012
7
Results for surgical correction of complete atrioventricular septal defect: associations with age, surgical era, and technique. (23173863)
2012
8
First report of right sided interrupted aortic arch type A in combination with atrioventricular septal defect and microdeletion 22q11. (21911270)
2011
9
Cor triatriatum sinister with incomplete atrioventricular septal defect in a cat. (21497529)
2011
10
Electrophysiologic and anatomical relationships studied in primum atrioventricular septal defect. (19959185)
2010
11
Live/real time three-dimensional transthoracic echocardiographic findings in an adult with complete atrioventricular septal defect. (20380665)
2010
12
Results of surgical repair of atrioventricular septal defect with double-orifice left atrioventricular valve. (19660422)
2009
13
Combination of aortopulmonary window and complete atrioventricular septal defect in a patient with heterotaxy syndrome. (19324181)
2009
14
Routine leaflet augmentation of left atrioventricular valve in the repair of atrioventricular septal defect. (23960576)
2009
15
Is steroid therapy enough to reverse complete atrioventricular block after percutaneous perimembranous ventricular septal defect closure? (19262403)
2009
16
Improved results after repair of complete atrioventricular septal defect. (20078721)
2009
17
Mid-to-long term follow-up after surgical repair of atrioventricular septal defect with common atrioventricular junction and ventricular shunting associated with tetralogy of Fallot. (18197999)
2008
18
Ideal timing of surgical repair of isolated complete atrioventricular septal defect. (17669760)
2007
19
Population-based perspective of long-term outcomes after surgical repair of partial atrioventricular septal defect. (17643646)
2007
20
Mosaic trisomy 6 and maternal uniparental disomy 6 in a 23-week gestation fetus with atrioventricular septal defect. (16470696)
2006
21
Discrete subaortic stenosis after the correction of atrioventricular septal defect in an adult. (15985300)
2006
22
Misalignment of pulmonary vessels with alveolar capillary dysplasia: association with atrioventricular septal defect and quadricuspid pulmonary valve. (16331469)
2006
23
Three-dimensional echocardiography improves the understanding of the mechanisms and site of left atrioventricular valve regurgitation in atrioventricular septal defect. (17138036)
2006
24
Correlation between pulmonary vascular change and hemodynamics in patients with complete atrioventricular septal defect. (15765161)
2005
25
Atrioventricular septal defect--associated anomalies and aneuploidy in prenatal life. (12881623)
2003
26
Intraoperative transoesophageal echocardiography in a low birth weight neonate with atrioventricular septal defect. (14535917)
2003
27
Two-patch repair of complete atrioventricular septal defect using a small ventricular patch. (12440648)
2002
28
Surgical treatment of partial atrioventricular septal defect: functional analysis of the mitral valve in the postoperative period. (12447495)
2002
29
What is your diagnosis? Atrioventricular septal defect. (11570383)
2001
30
Prosthetic mitral valve replacement after atrioventricular septal defect repair: a technique for small children. (11565679)
2001
31
Closure of the zone of apposition at correction of complete atrioventricular septal defect improves outcome. (10731650)
2000
32
Unbalanced atrioventricular septal defect with parachute valve. (11093523)
2000
33
Atrioventricular septal defect: clinical and diagnostic problems in children hospitalised in 1993-1998. (11208471)
2000
34
Repair of partial atrioventricular septal defect in children less than five years of age: late results. (10355422)
1999
35
Hemolytic anemia after atrioventricular septal defect repair without synthetic material. (10585070)
1999
36
Common arterial trunk associated with atrioventricular septal defect. (10593275)
1999
37
Gastroesophageal reflux after repair of atrioventricular septal defect in infants with trisomy 21: a comparison of medical and surgical therapy. (10507429)
1999
38
Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. (9930496)
1998
39
The diagnostic features of atrioventricular septal defect with common atrioventricular junction. (9680269)
1998
40
Valve morphology in complete atrioventricular septal defect: variability relevant to operation. (8347012)
1993
41
Acyanotic congenital heart disease. Atrial and ventricular septal defects, atrioventricular canal, patent ductus arteriosus, pulmonic stenosis. (8252562)
1993
42
Surgical repair of Ebstein's malformation associated with atrioventricular septal defect (atrioventricular canal). (1434738)
1992
43
Anterolateral muscle bundle of the left ventricle in atrioventricular septal defect: left ventricular outflow tract and subaortic stenosis. (1824041)
1991
44
Atrioventricular septal defect with intact septal structures in a 74-year-old. (2312206)
1990
45
Atrioventricular septal defect and Ebstein's malformation. (2321548)
1990
46
Correction of atrioventricular septal defect. Results influenced by Down syndrome? (2530895)
1989
47
Correlation of morphology of the left ventricular outflow tract with two-dimensional Doppler echocardiography and magnetic resonance imaging in atrioventricular septal defect. (2705386)
1989
48
Surgical anatomy of left ventricular outflow tract obstruction in complete atrioventricular septal defect. A concept for operative repair. (3682859)
1987
49
Left atrioventricular valve in atrioventricular septal defect. (6711449)
1984
50
Surface cooling (20 degrees C) and circulatory arrest in infants undergoing cardiac surgery. Results in ventricular septal defect, complete atrioventricular canal, and total anomalous pulmonary venous connection. (678092)
1978

Genetic Variations for Atrioventricular Septal Defect

Expression for genes affiliated with Atrioventricular Septal Defect

Sources:
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

Sources:
52QIAGEN, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Atrioventricular Septal Defect

GO Terms for genes affiliated with Atrioventricular Septal Defect

Sources:
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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  • Proteins
  • Lysates
  • Antibodies

Sources for Atrioventricular Septal Defect

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet