MCID: TTR001
MIFTS: 67

Tetralogy of Fallot malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Tetralogy of Fallot

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NIH Rare Diseases:41 Tetralogy of fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). tetralogy of fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). the cause of this condition is unknown. treatment involves surgery to repair the heart defects. sometimes more than one surgery is needed.  last updated: 3/15/2012

MalaCards based summary: Tetralogy of Fallot, also known as fallot tetralogy, is related to atrioventricular septal defect and ventricular septal defect, and has symptoms including broad forehead, brachydactyly syndrome and intrauterine growth retardation. An important gene associated with Tetralogy of Fallot is NKX2-5 (NK2 homeobox 5), and among its related pathways are HOP Signaling and Wnt / Hedgehog / Notch. The compounds 5-aza-2deoxycytidine and zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are liver/biliary system and skeleton.

Wikipedia:63 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:45 187500

Aliases & Classifications for Tetralogy of Fallot

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 22GTR, 27ICD9CM, 55SNOMED-CT, 60UMLS, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Tetralogy of Fallot, Aliases & Descriptions:

Name: Tetralogy of Fallot 45 9 10 41 11 47
Fallot Tetralogy 41 22
Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 9
 
Ventricular Septal Defect with Pulmonary Stenosis 9
Tetrology of Fallot 45
Tof 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
tetralogy of fallot:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Antenatal,Neonatal


External Ids:

OMIM45 187500
Disease Ontology9 DOID:6419
ICD9CM27 745.2
NCIt38 C84505
MeSH33 D013771
Orphanet47 3303
MESH via Orphanet34 D013771
ICD10 via Orphanet26 Q21.3
UMLS via Orphanet61 C0039685
ICD1025 Q21.3

Related Diseases for Tetralogy of Fallot

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Diseases related to Tetralogy of Fallot via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 305)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular septal defect32.1GATA4, NKX2-5
2ventricular septal defect31.8GATA4, NKX2-5, NPPB, JAG1
3digeorge syndrome31.5TBX1, CTHM, UFD1L
4congenital heart disease31.4NKX2-5, NPPB, GATA4
5velocardiofacial syndrome31.2TBX1, UFD1L
6holt-oram syndrome31.2TBX1
7ebstein anomaly31.1TBX1
8conotruncal heart malformations30.9CTHM, TBX1
9alagille syndrome30.7HEY2, JAG1
10pulmonary embolism30.6TBX1, NPPB
11congenital diaphragmatic hernia30.6ZFPM2, GATA4
12complete atrioventricular canal10.8
13right bundle branch block10.7
14aortopulmonary window10.7
15cor triatriatum10.7
16pulmonary atresia with ventricular septal defect10.7
17pulmonic stenosis10.7
18endocarditis10.6
19aneurysm10.6
20dextrocardia10.6
21hypertelorism and tetralogy of fallot10.6
22pentalogy of cantrell10.6
23familial atrial fibrillation10.5GATA5
24patent ductus arteriosus10.5
25tetralogy of fallot and glaucoma10.5
26diaphragmatic hernia 310.5ZFPM2
27thrombocytopenia-absent radius syndrome10.5
28duodenal atresia tetralogy of fallot10.5
29german syndrome10.5
30transposition of the great arteries10.5
31heart septal defect10.5GATA4, NKX2-5
32complete atrioventricular canal - fallot tetralogy10.4
33yunis-varon syndrome10.4
34ritscher-schinzel syndrome10.4
35hemifacial microsomia10.4
36townes-brocks syndrome10.4
37mckusick-kaufman syndrome10.4
38chime syndrome10.4
39holoprosencephaly10.4
40situs inversus10.4
41hypertrophic cardiomyopathy10.4
42subacute bacterial endocarditis10.4
43tracheal stenosis10.4
44cerebritis10.4
45pulmonary valve insufficiency10.4
46pulmonary valve stenosis10.4
47fallot complex with severe mental and growth retardation10.4
48accessory tricuspid valve tissue10.4
49bardet-biedl syndrome 710.4BBS7
50endodermal sinus tumor10.4GATA6, GATA4

Graphical network of the top 20 diseases related to Tetralogy of Fallot:



Diseases related to tetralogy of fallot

Symptoms for Tetralogy of Fallot

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Symptoms by clinical synopsis from OMIM:

187500

Clinical features from OMIM:

187500

Symptoms:

 47 (show all 13)
  • broad forehead
  • long/large/bulbous nose
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • autosomal dominant inheritance
  • intrauterine growth retardation
  • dolichocephaly/scaphocephaly
  • flat supraorbital ridge
  • proptosis/exophthalmos
  • thin/retracted lips
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • tetralogy of fallot/trilogy of fallot
  • undescended/ectopic testes/cryptorchidia/unfixed testes

HPO human phenotypes related to Tetralogy of Fallot:

(show all 18)
id Description Frequency HPO Source Accession
1 broad forehead hallmark (90%) HP:0000337
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 clinodactyly of the 5th finger hallmark (90%) HP:0004209
5 abnormal nasal morphology hallmark (90%) HP:0005105
6 cryptorchidism typical (50%) HP:0000028
7 thin vermilion border typical (50%) HP:0000233
8 dolichocephaly typical (50%) HP:0000268
9 abnormality of periauricular region typical (50%) HP:0000383
10 proptosis typical (50%) HP:0000520
11 tetralogy of fallot typical (50%) HP:0001636
12 underdeveloped supraorbital ridges typical (50%) HP:0009891
13 autosomal dominant inheritance HP:0000006
14 broad forehead HP:0000337
15 proptosis HP:0000520
16 tetralogy of fallot HP:0001636
17 clinodactyly of the 5th finger HP:0004209
18 preauricular pit HP:0004467

Drugs & Therapeutics for Tetralogy of Fallot

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Drug clinical trials:

Search ClinicalTrials for Tetralogy of Fallot

Search NIH Clinical Center for Tetralogy of Fallot

Genetic Tests for Tetralogy of Fallot

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Genetic tests related to Tetralogy of Fallot:

id Genetic test Affiliating Genes
1 Tetralogy of Fallot22

Anatomical Context for Tetralogy of Fallot

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MalaCards organs/tissues related to Tetralogy of Fallot:

31
Heart, Lung, Skin, Testes, Brain, Bone, Lymph node, Spleen, Kidney, Placenta, Trachea

Animal Models for Tetralogy of Fallot or affiliated genes

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MGI Mouse Phenotypes related to Tetralogy of Fallot:

35 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5HEY2, GDF1, JAG1, GATA4, GATA6, ZFPM2
2MP:00053909.4GATA5, TBX1, JAG1, GDF1, CITED2, GATA4
3MP:00053719.4TBX1, BBS7, CITED2, BBS1, GATA6, HAND1
4MP:00053899.3GATA5, GJA5, BBS1, HAND1, GATA4, ZFPM2
5MP:00053799.3GATA4, GATA5, GJA5, TBX1, JAG1, ZFPM2
6MP:00053819.3CITED2, JAG1, BBS7, GDF1, GATA4, GATA5
7MP:00053679.3BBS1, GDF1, JAG1, GATA5, CITED2
8MP:00053979.2NKX2-5, JAG1, CITED2, GDF1, GJA5, GATA6
9MP:00053829.0NKX2-5, TBX1, BBS1, BBS7, JAG1, HEY2
10MP:00053698.8HAND1, ZFPM2, JAG1, NKX2-5, TBX1, HEY2
11MP:00053888.8GDF1, CITED2, ZFPM2, BBS1, NKX2-6, GATA4
12MP:00028738.7TBX1, NKX2-5, NKX2-6, UFD1L, JAG1, ZFPM2
13MP:00053808.7GDF1, CITED2, HEY2, JAG1, NKX2-6, NKX2-5
14MP:00036318.7TBX1, NKX2-5, BBS1, BBS7, JAG1, HEY2
15MP:00053788.6GATA4, GATA6, TBX1, NKX2-5, NKX2-6, BBS1
16MP:00053848.6NKX2-6, BBS1, ZFPM2, CITED2, GDF1, GATA5
17MP:00053768.1NKX2-5, TBX1, GJA5, HAND1, CITED2, GATA5
18MP:00107688.0GATA5, GATA4, GDF1, CITED2, HEY2, JAG1
19MP:00053857.8GATA5, JAG1, HEY2, BBS1, NKX2-6, BBS7

Publications for Tetralogy of Fallot

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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 766)
idTitleAuthorsYear
1
Stenting of the right ventricular outflow tract in a symptomatic newborn with tetralogy of Fallot. (25848370)
2015
2
Rationale and Design of the Canadian Outcomes Registry Late After Tetralogy of Fallot Repair: The CORRELATE Study. (25239650)
2014
3
Functional analysis of the anatomical right ventricular components: should assessment of right ventricular function after repair of tetralogy of Fallot be refined? (24186927)
2014
4
Neurohormonal activation and its relation to outcomes late after repair of tetralogy of Fallot. (25351509)
2014
5
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot. (24400131)
2014
6
Tetralogy of Fallot with double aortic arch and discontinuous left pulmonary artery. (25319093)
2014
7
Valve-sparing tetralogy of Fallot repair with intraoperative dilation of the pulmonary valve. (23179422)
2013
8
Altered diastolic left atrial and ventricular performance in asymptomatic patients after repair of tetralogy of Fallot. (23179427)
2013
9
Dobutamine stress MRI in repaired tetralogy of Fallot with chronic pulmonary regurgitation: a comparison with healthy volunteers. (22154014)
2013
10
Physiological and phenotypic characteristics of late survivors of tetralogy of fallot repair who are free from pulmonary valve replacement. (24065608)
2013
11
Role of myocardial hypertrophy on acute and chronic right ventricular performance in relation to chronic volume overload in aA porcine model: Relevance for the surgical management of tetralogy of Fallot. (24280710)
2013
12
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
13
Left Ventricular Mechanics in Repaired Tetralogy of Fallot with and without Pulmonary Valve Replacement: Analysis by Three-Dimensional Speckle Tracking Echocardiography. (24223166)
2013
14
Primary repair of tetralogy of Fallot in infants: Transatrial/transpulmonary or transventricular approach. (24054755)
2013
15
DNA sequencing of TGFI^2 in sporadic patients with tetralogy of Fallot. (22969986)
2012
16
Assessment of a right-ventricular infundibulum-sparing approach in transatrial-transpulmonary repair of tetralogy of Fallot. (21592812)
2012
17
Catch-up growth in children after repair of Tetralogy of Fallot. (22309977)
2012
18
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. (23020118)
2012
19
Tetralogy of Fallot with Holt-Oram syndrome. (22572437)
2012
20
Double-barrel right ventricular outflow: tetralogy of Fallot annulus preservation technique. (22916765)
2012
21
Tetralogy of Fallot: fetal diagnosis to surgical correction. (22992529)
2012
22
Outcome after repair of atrioventricular septal defect with tetralogy of Fallot. (21855095)
2012
23
Postoperative tetralogy of fallot with concomitant atrial fibrillation and ventricular tachycardia. (22808576)
2012
24
Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot. (22314278)
2012
25
Influence of RV restrictive physiology on LV diastolic function in children after tetralogy of Fallot repair. (22727200)
2012
26
Electrical dyssynchrony and resynchronization in tetralogy of Fallot. (21195208)
2011
27
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children. (21893051)
2011
28
Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot. (21519287)
2011
29
Successful delivery by a cesarean section in a parturient with severe dilated cardiomyopathy, an implantable cardioverter defibrillator, and a repaired tetralogy of fallot. (21731806)
2011
30
A statistical model for quantification and prediction of cardiac remodelling: application to tetralogy of Fallot. (21880565)
2011
31
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
32
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
33
Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). (19630881)
2009
34
Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (18575288)
2008
35
Ventricular non-compaction in the setting of double-outlet right ventricle (tetralogy of Fallot type) with doubly committed subarterial ventricular septal defect. (17435076)
2007
36
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
37
Initial experience with Bosentan therapy in patients with the Eisenmenger syndrome: Tetralogy of Fallot? (15670566)
2005
38
A female with complete lack of MA1llerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? (15266619)
2004
39
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. (14517948)
2003
40
Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome? (11152158)
2001
41
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
42
Branch pulmonary artery growth after blalock-taussig shunts in tetralogy of fallot and pulmonary atresia with ventricular septal defect: a retrospective, echocardiographic study. (10441692)
1999
43
Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. (9930496)
1998
44
A familial disorder with duodenal atresia and tetralogy of Fallot. (8957509)
1996
45
Expression of proto-oncogenes, genes for muscle specific isoforms and heat shock protein (HSP) -70 gene in hypertrophied cardiac muscles from patients with atrial septal defect or tetralogy of Fallot. (7833841)
1994
46
Surgical treatment of tetralogy of Fallot and pulmonary atresia with ventricular septal defect. (8279911)
1994
47
Determination of infundibular innervation and amine receptor content in cyanotic and acyanotic myocardium: relation to clinical events in tetralogy of Fallot. (1652127)
1991
48
Complete atrioventricular canal associated with tetralogy of Fallot. (3566399)
1987
49
Repair of complete atrioventricular canal associated with tetralogy of Fallot or double-outlet right ventricle: report of 10 patients. (6987965)
1980
50
Collateral circulation in subclavian atresia. Report of a case with right aortic arch and tetralogy of Fallot. (4245508)
1969

Variations for Tetralogy of Fallot

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UniProtKB/Swiss-Prot genetic disease variations for Tetralogy of Fallot:

62 (show all 18)
id Symbol AA change Variation ID SNP ID
1GATA4p.Pro407GlnVAR_067619rs115099192
2GATA4p.Ala9ProVAR_071514
3GATA4p.Leu51ValVAR_071515
4GATA4p.Asn285SerVAR_071516
5GATA6p.Ser184AsnVAR_067382
6GDF1p.Gly162AspVAR_065333
7GDF1p.Ser309ProVAR_065336
8GDF1p.Pro312ThrVAR_065337
9JAG1p.Gly274AspVAR_013200rs28939668
10NKX2-5p.Arg25CysVAR_010116rs28936670
11NKX2-5p.Glu21GlnVAR_038215
12NKX2-5p.Gln22ProVAR_038216
13NKX2-5p.Arg216CysVAR_038239
14NKX2-5p.Ala219ValVAR_038240
15NKX2-5p.Ala323ThrVAR_038253
16ZFPM2p.Glu30GlyVAR_017942rs121908601
17ZFPM2p.Ser657GlyVAR_017943rs28374544
18ZFPM2p.Met544IleVAR_072075

Clinvar genetic disease variations for Tetralogy of Fallot:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1GATA4NM_002052.3(GATA4): c.487C> T (p.Pro163Ser)single nucleotide variantPathogenicrs387906769GRCh37Chr 8, 11566308: 11566308
2GATA4NM_002052.3(GATA4): c.1220C> A (p.Pro407Gln)single nucleotide variantPathogenicrs115099192GRCh37Chr 8, 11615875: 11615875
3GATA4GATA4, 3-BP INS, 354GCCinsertionPathogenic
4GATA6NM_005257.5(GATA6): c.592C> G (p.Leu198Val)single nucleotide variantPathogenicrs387906814GRCh37Chr 18, 19751697: 19751697
5GATA6NM_005257.5(GATA6): c.551G> A (p.Ser184Asn)single nucleotide variantPathogenicrs387906816GRCh37Chr 18, 19751656: 19751656
6ZFPM2ZFPM2, MET544ILEsingle nucleotide variantPathogenic
7ZFPM2NM_012082.3(ZFPM2): c.1969A> G (p.Ser657Gly)single nucleotide variantPathogenicrs28374544GRCh37Chr 8, 106814279: 106814279
8ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)single nucleotide variantPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
9NM_001492.5(GDF1): c.485G> A (p.Gly162Asp)single nucleotide variantPathogenicrs121434424GRCh37Chr 19, 18980040: 18980040
10TBX1TBX1, 30-BP DUP, NT1399duplicationPathogenic
11JAG1NM_000214.2(JAG1): c.821G> A (p.Gly274Asp)single nucleotide variantPathogenicrs28939668GRCh37Chr 20, 10633181: 10633181
12NKX2-5NM_004387.3(NKX2-5): c.61G> C (p.Glu21Gln)single nucleotide variantPathogenicrs104893904GRCh37Chr 5, 172662026: 172662026
13NKX2-5NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs104893905GRCh37Chr 5, 172659901: 172659901
14NKX2-5NM_004387.3(NKX2-5): c.656C> T (p.Ala219Val)single nucleotide variantPathogenicrs104893902GRCh37Chr 5, 172659891: 172659891
15GATA4NM_002052.3(GATA4): c.1273G> A (p.Asp425Asn)single nucleotide variantPathogenicrs56208331GRCh37Chr 8, 11615928: 11615928

Expression for genes affiliated with Tetralogy of Fallot

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Search GEO for disease gene expression data for Tetralogy of Fallot.

Pathways for genes affiliated with Tetralogy of Fallot

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Compounds for genes affiliated with Tetralogy of Fallot

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine4310.0GATA4, GATA6, GATA5
2zinc43 2410.4NPPB, GATA4, GATA6, GATA5, NKX2-5, ZFPM2
3nitric oxide43 24 1211.3JAG1, NKX2-5, GJA5, GATA4, NPPB

GO Terms for genes affiliated with Tetralogy of Fallot

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Cellular components related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary membraneGO:006017010.0BBS1, BBS7
2BBSomeGO:00344649.9BBS7, BBS1
3nucleoplasmGO:00056549.3GATA4, HAND1, ZFPM2, HEY2, GATA5, GATA6
4nucleusGO:00056348.3GATA4, HAND1, CITED2, GATA6, GATA5, TBX1

Biological processes related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

(show top 50)    (show all 54)
idNameGO IDScoreTop Affiliating Genes
1right ventricular cardiac muscle tissue morphogenesisGO:000322110.6NKX2-5, ZFPM2
2cardiac conduction system developmentGO:000316110.5GJA5, NKX2-5
3atrial cardiac muscle cell developmentGO:005501410.5NKX2-5, NKX2-6
4embryonic heart tube left/right pattern formationGO:006097110.5NKX2-5, CITED2
5positive regulation of male gonad developmentGO:0200002010.5CITED2, ZFPM2
6positive regulation of cardioblast differentiationGO:005189110.5NKX2-5, GATA6, GATA4
7aorta morphogenesisGO:003590910.5JAG1, TBX1
8regulation of cardiac muscle contractionGO:005511710.4GJA5, NKX2-5
9endocardial cushion developmentGO:000319710.4CITED2, GATA4
10intestinal epithelial cell differentiationGO:006057510.4GATA5, GATA6, GATA4
11negative regulation of cardiac muscle cell apoptotic processGO:001066710.4HEY2, NKX2-5
12cardiac muscle cell differentiationGO:005500710.4NKX2-5, GATA6
13pulmonary valve morphogenesisGO:000318410.4HEY2, JAG1
14cardiac ventricle morphogenesisGO:000320810.4HEY2, GATA4
15Notch signaling involved in heart developmentGO:006131410.4HEY2, JAG1
16pharyngeal system developmentGO:006003710.4NKX2-6, NKX2-5, TBX1
17ventricular septum developmentGO:000328110.4GATA4, GJA5
18ventricular trabecula myocardium morphogenesisGO:000322210.4HEY2, NKX2-5
19response to estrogenGO:004362710.3CITED2, GATA6, GATA4
20heart trabecula formationGO:006034710.3NKX2-5, HEY2
21trophectodermal cell differentiationGO:000182910.3HAND1, CITED2
22cardiac right ventricle morphogenesisGO:000321510.3HEY2, JAG1, GATA4
23male gonad developmentGO:000858410.3CITED2, GATA6, GATA4
24outflow tract septum morphogenesisGO:000314810.3ZFPM2, NKX2-5, TBX1, GATA6
25cardiac muscle hypertrophy in response to stressGO:001489810.3HEY2, GATA6, GATA4
26nonmotile primary cilium assemblyGO:003505810.3BBS7, BBS1
27cellular response to BMP stimulusGO:007177310.3GATA6, GATA5
28pulmonary artery morphogenesisGO:006115610.3JAG1, HEY2, CITED2
29positive regulation of cardiac muscle cell proliferationGO:006004510.3GATA4, GATA6, HEY2
30thyroid gland developmentGO:003087810.3TBX1, NKX2-5
31ventricular cardiac muscle cell developmentGO:005501510.3HEY2, NKX2-6, NKX2-5
32cardiac septum morphogenesisGO:006041110.3JAG1, HEY2, HAND1
33determination of left/right symmetryGO:000736810.3CITED2, BBS7, TBX1
34smooth muscle cell differentiationGO:005114510.2HEY2, GATA6
35embryonic heart tube developmentGO:003505010.2HAND1, NKX2-6, NKX2-5, GJA5
36atrial septum morphogenesisGO:006041310.2GATA4, GJA5, NKX2-5, HEY2
37angiogenesisGO:000152510.1HAND1, JAG1, TBX1, GJA5
38vasculogenesisGO:000157010.1NKX2-5, HEY2, ZFPM2, CITED2
39artery morphogenesisGO:004884410.1GJA5, TBX1
40outflow tract morphogenesisGO:000315110.1CITED2, HEY2, TBX1, GJA5
41heart loopingGO:000194710.0GATA4, NKX2-5, BBS7, CITED2, HAND1
42ventricular septum morphogenesisGO:006041210.0CITED2, ZFPM2, HEY2, NKX2-5, GJA5
43heart developmentGO:000750710.0HAND1, CITED2, TBX1
44transcription from RNA polymerase II promoterGO:00063669.9GATA4, GATA6, HEY2, HAND1
45positive regulation of transcription, DNA-templatedGO:00458939.8GATA4, TBX1, NKX2-5, CITED2
46negative regulation of transcription, DNA-templatedGO:00458929.8HAND1, CITED2, ZFPM2, HEY2, NKX2-5, GATA6
47negative regulation of transcription from RNA polymerase II promoterGO:00001229.7HAND1, CITED2, ZFPM2, HEY2, NKX2-5, GATA6
48negative regulation of apoptotic processGO:00430669.7CITED2, NKX2-6, NKX2-5, GATA6
49blood coagulationGO:00075969.5ZFPM2, GATA5, GATA6, GATA4
50positive regulation of transcription from RNA polymerase II promoterGO:00459449.1GATA4, HAND1, CITED2, ZFPM2, HEY2, JAG1

Molecular functions related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1enhancer sequence-specific DNA bindingGO:000115810.0GATA4, GATA5
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:000370510.0GATA4, GATA6, GATA5, NKX2-5
3RNA polymerase II activating transcription factor bindingGO:000110210.0HEY2, CITED2
4RNA polymerase II repressing transcription factor bindingGO:00011039.9GATA6, BBS1, BBS7
5transcription regulatory region DNA bindingGO:00442129.9HAND1, NKX2-5, GATA5, GATA6, GATA4
6chromatin bindingGO:00036829.8CITED2, NKX2-5, GATA6, GATA4
7RNA polymerase II transcription coactivator activityGO:00011059.8ZFPM2, CITED2
8transcription factor bindingGO:00081349.6GATA4, HAND1, ZFPM2, HEY2, NKX2-5, GATA6
9sequence-specific DNA bindingGO:00435659.5HAND1, HEY2, NKX2-6, NKX2-5, TBX1, GATA4
10sequence-specific DNA binding transcription factor activityGO:00037009.2CITED2, HEY2, NKX2-6, NKX2-5, TBX1, GATA5
11protein bindingGO:00055158.1HEY2, ZFPM2, CITED2, L1RE1, HAND1, JAG1

Products for genes affiliated with Tetralogy of Fallot

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Sources for Tetralogy of Fallot

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet