MCID: ATR001
MIFTS: 44

Atrioventricular Septal Defect malady

Cardiovascular diseases, Endocrine diseases categories

Summaries for Atrioventricular Septal Defect

About this section
Sources:
63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 25ICD10
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

600309

Drugs & Therapeutics for Atrioventricular Septal Defect

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Atrioventricular Septal Defect

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

About this section

Anatomical Context for Atrioventricular Septal Defect

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Atrioventricular Septal Defect:

32
Heart, Thyroid, Testes, Atrioventricular node

Animal Models for Atrioventricular Septal Defect or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Atrioventricular Septal Defect:

(show top 50)    (show all 378)
idTitleAuthorsYear
1
8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly. (23404914)
2013
2
Surgical outcome of reoperation due to left atrioventricular valve regurgitation after previous correction of complete atrioventricular septal defect. (24224745)
2013
3
Surgical strategy for atrioventricular septal defect and tetralogy of Fallot or double-outlet right ventricle. (23602064)
2013
4
Echocardiographic features defining right dominant unbalanced atrioventricular septal defect: a multi-institutional Congenital Heart Surgeons' Society study. (23784944)
2013
5
Late functional outcomes after repair of tetralogy of Fallot with atrioventricular septal defect: a double case-match control study. (23419651)
2013
6
Partial zone of apposition closure in atrioventricular septal defect: are papillary muscles the clue. (23702229)
2013
7
Bridging annuloplasty for left atrioventricular valve of partial atrioventricular septal defect. (22541239)
2012
8
Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome. (22740159)
2012
9
Surgical management of complete atrioventricular septal defect: associations with surgical technique, age, and trisomy 21. (21163497)
2011
10
Outcomes of hospitalization in adults in the United States with atrial septal defect, ventricular septal defect, and atrioventricular septal defect. (21545985)
2011
11
Real-time 3-dimensional transesophageal echocardiography of the atrioventricular septal defect. (21586740)
2011
12
Left ventricular outflow tract obstruction after the modified single patch repair of atrioventricular septal defects: teasing fact from fiction. (20338382)
2010
13
Acquired left atrial-to-right ventricular shunt with mitral valve incompetence: a rare sequela after repair of atrioventricular septal defect. (19436792)
2009
14
Biventricular repair in unbalanced atrioventricular septal defect. (19565128)
2009
15
Double-orifice tricuspid valve in association with complete atrioventricular septal defect. (19357908)
2009
16
Surgical outcomes of the modified single-patch technique in complete atrioventricular septal defect. (19181697)
2009
17
Ventricular scoop in atrioventricular septal defect: relevance to simplified single-patch method. (19101296)
2009
18
Severe left ventricular hypoplasia in patients with unbalanced incomplete atrioventricular septal defect and pulmonary hypertension: feasibility of biventricular repair. (18594788)
2009
19
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
20
Reoperation for left atrioventricular valve regurgitation after atrioventricular septal defect repair. (18573414)
2008
21
Novel point mutation in the NKX2-5 gene in a Moroccan family with atrioventricular conduction disturbance and an atrial septal defect in the oval fossa. (17184575)
2007
22
Double-orifice repair for left atrioventricular valve regurgitation in atrioventricular septal defect: report of two cases. (16948771)
2006
23
Atrioventricular septal defect: from fetus to adult. (17105897)
2006
24
Repair of complete atrioventricular septal defect with tetralogy of fallot: our experience and literature review. (15016061)
2004
25
Solitary trunk from the right ventricle with a cleft mitral valve simulating the trifoliate left valve of an atrioventricular septal defect with common atrioventricular junction. (15680053)
2004
26
Single-stage anatomical repair of complete atrioventricular canal, double-outlet right ventricle, and cor triatriatum using ventricular septal defect translocation. (11996287)
2002
27
Complete atrioventricular septal defect. (11447481)
2000
28
Operation for partial atrioventricular septal defect: a forty-year review. (10788807)
2000
29
Epidemiology, and diagnostic and surgical trends in atrioventricular septal defect in Malta. (10414384)
1999
30
Morphometric analysis of atrioventricular septal defect with common valve orifice. (9426043)
1998
31
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
32
Atrioventricular septal defect with cor triatriatum: case report and review of the literature. (9568222)
1998
33
Atrioventricular septal defect. (9636249)
1998
34
Atrioventricular valve function after single patch repair of complete atrioventricular septal defect in infancy: how early should repair be attempted? (9605072)
1998
35
Atrioventricular septal defect and tetralogy of Fallot: a 15-year experience. (9288502)
1997
36
Familial atrioventricular septal defect: possible genetic mechanism. (7946792)
1994
37
Familial atrioventricular septal defect: possible genetic mechanisms. (8297702)
1994
38
Atypical form of atrioventricular septal defect without left axis deviation: relation between morphology and unusual QRS axis. (8038031)
1993
39
Late results after repair of partial atrioventricular septal defect in adolescents and adults. (15227452)
1992
40
The concept and definition of an "intermediate form" of atrioventricular septal defect. (1789868)
1991
41
Atrioventricular septal defect: quantitative anatomy of the right ventricle. (1946008)
1991
42
Atrioventricular septal defect correction caveats. (2378325)
1990
43
Optimal management of patients with complete atrioventricular septal defect. (2466596)
1989
44
Atrioventricular septal defect with double-outlet right atrium. (2798194)
1989
45
Scooping of the ventricular septum in atrioventricular septal defect. (3336231)
1988
46
Pulmonary vascular disease in infants with complete atrioventricular septal defect. (2952609)
1987
47
Spontaneous closure of the ventricular component of an atrioventricular septal defect. (3687760)
1987
48
Pulmonary vascular bed in children with complete atrioventricular septal defect: relation between structural and hemodynamic abnormalities. (2938464)
1986
49
Coarctation of the aorta or subaortic stenosis with atrioventricular septal defect. (6539056)
1984
50
Results with the two-patch technique for repair of complete atrioventricular septal defect. (6380437)
1984

Genetic Variations for Atrioventricular Septal Defect

About this section

Expression for genes affiliated with Atrioventricular Septal Defect

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51QIAGEN, 53Reactome, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Atrioventricular Septal Defect

About this section

GO Terms for genes affiliated with Atrioventricular Septal Defect

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atrioventricular Septal Defect

About this section
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