TOF
MCID: TTR001
MIFTS: 69

Tetralogy of Fallot (TOF)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Tetralogy of Fallot

MalaCards integrated aliases for Tetralogy of Fallot:

Name: Tetralogy of Fallot 56 12 52 58 73 36 29 13 6 43 15 62 39 32
Tof 56 52 73
Fallot Tetralogy 74 52
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 12

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
tetralogy of fallot:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:6419
OMIM 56 187500
KEGG 36 H00549
ICD9CM 34 745.2
MeSH 43 D013771
NCIt 49 C84505
SNOMED-CT 67 86299006
ICD10 32 Q21.3
MESH via Orphanet 44 D013771
ICD10 via Orphanet 33 Q21.3
UMLS via Orphanet 72 C0039685
Orphanet 58 ORPHA3303
MedGen 41 C0039685
UMLS 71 C0039685

Summaries for Tetralogy of Fallot

NIH Rare Diseases : 52 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.

MalaCards based summary : Tetralogy of Fallot, also known as tof, is related to ventricular septal defect and digeorge syndrome. An important gene associated with Tetralogy of Fallot is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are Notch signaling pathway and Mesodermal Commitment Pathway. The drugs Fentanyl and Propofol have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are brachydactyly and intrauterine growth retardation

KEGG : 36 The four classic features of tetralogy of Fallot are ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and overrinding aorta. These cardiac abnormalities are resulted from altered neural crest migration during embryogenesis.

UniProtKB/Swiss-Prot : 73 Tetralogy of Fallot: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.

PubMed Health : 62 About tetralogy of fallot: Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital heart defect. This is a problem with the heart's structure that's present at birth. Congenital heart defects change the normal flow of blood through the heart. Tetralogy of Fallot is a rare, complex heart defect. It occurs in about 5 out of every 10,000 babies. The defect affects boys and girls equally. To understand tetralogy of Fallot, it helps to know how a healthy heart works. The Health Topics How the Heart Works article describes the structure and function of a healthy heart. The article also has animations that show how your heart pumps blood and how your heart's electrical system works.

Wikipedia : 74 Tetralogy of Fallot (TOF) is a type of heart defect present at birth. Symptoms at birth may vary from... more...

More information from OMIM: 187500

Related Diseases for Tetralogy of Fallot

Diseases in the Tetralogy of Fallot family:

Tetralogy of Fallot Syndrome, Autosomal Recessive

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

(show top 50) (show all 1041)
# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 34.4 ZFPM2 TBX5 TBX20 NOTCH1 NKX2-6 NKX2-5
2 digeorge syndrome 34.0 TBX5 TBX20 TBX1 NOTCH1 NKX2-6 NKX2-5
3 conotruncal heart malformations 33.9 ZFPM2 TBX1 NKX2-6 NKX2-5 GDF1 GATA6
4 heart septal defect 33.6 ZFPM2 TBX5 TBX20 TBX1 NOTCH1 NKX2-5
5 atrial heart septal defect 32.8 ZFPM2 TBX5 TBX20 TBX1 NOTCH1 NKX2-5
6 patent ductus arteriosus 1 32.8 TBX5 TBX20 TBX1 NOTCH1 NKX2-5 JAG1
7 atrioventricular septal defect 32.8 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 GJA5
8 double outlet right ventricle 32.6 ZFPM2 TBX5 TBX20 TBX1 NOTCH1 NKX2-6
9 atrioventricular block 32.4 TBX5 NKX2-5 GJA5 GATA4
10 pulmonary valve stenosis 32.4 TBX5 NKX2-5 JAG1 GATA4
11 dextro-looped transposition of the great arteries 32.4 TBX5 NKX2-5 GDF1 GATA4
12 heart disease 32.4 TBX5 TBX20 TBX1 NOTCH1 NKX2-5 JAG1
13 pulmonic stenosis 32.3 JAG1 GATA5 GATA4
14 aortic valve disease 1 32.3 TBX5 TBX20 TBX1 NOTCH1 NKX2-5 JAG1
15 patent foramen ovale 32.1 TBX5 TBX20 TBX1 NKX2-5 GJA5 GATA6
16 hypoplastic left heart syndrome 32.1 TBX5 TBX20 TBX1 NOTCH1 NKX2-5 JAG1
17 tricuspid atresia 31.9 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 GJA5
18 diaphragmatic hernia, congenital 31.9 ZFPM2 NIPBL GATA6 GATA4
19 dilated cardiomyopathy 31.8 TBX5 TBX20 NKX2-5 MT-CO1 GJA5 GATA6
20 pulmonary valve disease 31.7 TBX5 NKX2-5 GATA6 GATA4
21 sinoatrial node disease 31.7 TBX5 NKX2-5 GJA5
22 holt-oram syndrome 31.7 TBX5 TBX20 TBX1 NKX2-6 NKX2-5 GJA5
23 left ventricular noncompaction 31.6 TBX5 TBX20 NOTCH1 NKX2-5 JAG1 GJA5
24 eisenmenger syndrome 31.6 NKX2-5 GATA4 CITED2
25 wolff-parkinson-white syndrome 31.5 TBX5 TBX20 NKX2-5 JAG1 GJA5
26 aortic valve disease 2 31.5 TBX5 NOTCH1 NKX2-5 GATA4
27 charge syndrome 31.4 TBX5 TBX20 TBX1
28 tricuspid valve disease 31.4 TBX5 NKX2-5 GATA6
29 ebstein anomaly 31.4 ZFPM2 TBX5 TBX20 NKX2-5 GJA5 GATA4
30 atrial septal defect 2 31.2 TBX20 NKX2-5 GATA4
31 total anomalous pulmonary venous return 1 31.2 TBX5 NKX2-5 GATA4
32 nodular regenerative hyperplasia 31.0 NOTCH1 JAG1
33 46,xy partial gonadal dysgenesis 31.0 ZFPM2 GATA4
34 atrial septal defect 4 30.4 TBX20 NKX2-5
35 mitochondrial complex iv deficiency 30.1 MT-CO3 MT-CO2 MT-CO1
36 tetralogy of fallot and glaucoma 12.7
37 hypertelorism and tetralogy of fallot 12.7
38 tetralogy of fallot syndrome, autosomal recessive 12.6
39 duodenal atresia tetralogy of fallot 12.5
40 complete atrioventricular canal-tetralogy of fallot syndrome 12.5
41 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 12.5
42 alagille syndrome 1 11.9
43 pulmonary atresia with ventricular septal defect 11.9
44 spondylometaphyseal dysplasia, corner fracture type 11.7
45 fallot complex with severe mental and growth retardation 11.7
46 ventricular septal defect 1 11.7
47 deafness, congenital heart defects, and posterior embryotoxon 11.7
48 critical congenital heart disease 11.7
49 ritscher-schinzel syndrome 1 11.6
50 congenital heart defects, multiple types, 6 11.5

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



Diseases related to Tetralogy of Fallot

Symptoms & Phenotypes for Tetralogy of Fallot

Human phenotypes related to Tetralogy of Fallot:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 abnormal nasal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005105
4 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
5 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
6 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
7 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
8 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
9 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
10 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
11 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
12 underdeveloped supraorbital ridges 58 31 frequent (33%) Frequent (79-30%) HP:0009891

Symptoms via clinical synopsis from OMIM:

56
Facies:
broad forehead
prominent eyes

Limbs:
fifth finger clinodactyly

Misc:
sib recurrence risk of 1% for tetralogy and 2% for any congenital heart defect

Cardiac:
tetralogy of fallot

Ears:
preauricular pits

Clinical features from OMIM:

187500

MGI Mouse Phenotypes related to Tetralogy of Fallot:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.52 CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
2 cellular MP:0005384 10.43 GATA4 GATA5 GATA6 GDF1 HIRA JAG1
3 embryo MP:0005380 10.37 CITED2 GATA4 GATA6 GDF1 HIRA JAG1
4 growth/size/body region MP:0005378 10.37 CITED2 GATA4 GATA6 GDF1 HIRA JAG1
5 homeostasis/metabolism MP:0005376 10.36 CITED2 GATA4 GATA5 GATA6 GJA5 HIRA
6 mortality/aging MP:0010768 10.3 CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
7 endocrine/exocrine gland MP:0005379 10.25 CITED2 GATA4 GATA5 GDF1 GJA5 JAG1
8 digestive/alimentary MP:0005381 10.24 CITED2 GATA4 GATA5 GDF1 GJA5 JAG1
9 hematopoietic system MP:0005397 10.22 CITED2 GATA4 GATA6 GDF1 GJA5 HIRA
10 immune system MP:0005387 10.17 CITED2 GATA5 GDF1 GJA5 HIRA MT-CO1
11 muscle MP:0005369 10.17 GATA4 GATA5 GATA6 GJA5 HIRA JAG1
12 craniofacial MP:0005382 10.15 CITED2 GDF1 HIRA JAG1 NIPBL NKX2-5
13 normal MP:0002873 10.03 CITED2 GATA4 GATA6 GDF1 GJA5 JAG1
14 limbs/digits/tail MP:0005371 9.95 CITED2 GATA4 GATA6 NIPBL RET TBX1
15 no phenotypic analysis MP:0003012 9.86 GATA4 GJA5 HIRA JAG1 NKX2-5 RET
16 respiratory system MP:0005388 9.7 CITED2 GATA4 GATA6 GDF1 GJA5 NKX2-5
17 skeleton MP:0005390 9.32 CITED2 GATA4 GATA5 GDF1 HIRA JAG1

Drugs & Therapeutics for Tetralogy of Fallot

PubMed Health treatment related to Tetralogy of Fallot: 62

Tetralogy of Fallot is repaired with open-heart surgery , either soon after birth or later in infancy. The goal of surgery is to repair the four defects of tetralogy of Fallot so the heart can work as normally as possible. Repairing the defects can greatly improve a child's health and quality of life. The pediatric cardiologist and cardiac surgeon will decide the best time to do the surgery . They will base their decision on your baby's health and weight and the severity of the defects and symptoms. Some teenagers or adults who had tetralogy of Fallot repaired in childhood need additional surgery to correct heart problems that develop over time. For more information, go to "Living With Tetralogy of Fallot."

Drugs for Tetralogy of Fallot (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
5
Eplerenone Approved Phase 4 107724-20-9 150310 443872
6 Anesthetics Phase 4
7 Hypnotics and Sedatives Phase 4
8 Central Nervous System Depressants Phase 4
9 Antioxidants Phase 4
10 Anesthetics, General Phase 4
11 Anesthetics, Intravenous Phase 4
12 Anti-Inflammatory Agents Phase 4
13 Platelet Aggregation Inhibitors Phase 4
14 Anesthetics, Inhalation Phase 4
15 Natriuretic Agents Phase 4
16 diuretics Phase 4
17 Antihypertensive Agents Phase 4
18 Hormone Antagonists Phase 4
19 Mineralocorticoids Phase 4
20 Mineralocorticoid Receptor Antagonists Phase 4
21 Diuretics, Potassium Sparing Phase 4
22 Hormones Phase 4
23
Nitric Oxide Approved Phase 2, Phase 3 10102-43-9 145068
24
Dobutamine Approved Phase 3 34368-04-2 36811
25 Natriuretic Peptide, Brain Phase 2, Phase 3
26 Anti-Asthmatic Agents Phase 2, Phase 3
27 Respiratory System Agents Phase 2, Phase 3
28 Free Radical Scavengers Phase 2, Phase 3
29 Bronchodilator Agents Phase 2, Phase 3
30 Vasodilator Agents Phase 2, Phase 3
31 Sympathomimetics Phase 3
32 Adrenergic beta-Agonists Phase 3
33 Neurotransmitter Agents Phase 3
34 Autonomic Agents Phase 3
35 Adrenergic Agonists Phase 3
36 Adrenergic Agents Phase 3
37 Protective Agents Phase 3
38
Losartan Approved Phase 2 114798-26-4 3961
39
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
40
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
41
Sodium citrate Approved, Investigational Phase 2 68-04-2
42
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
43
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
44 Anti-Arrhythmia Agents Phase 2
45 Angiotensin II Type 1 Receptor Blockers Phase 2
46 Angiotensin Receptor Antagonists Phase 2
47 Giapreza Phase 2
48 Angiotensinogen Phase 2
49 Adrenergic alpha-2 Receptor Agonists Phase 2
50 Analgesics, Non-Narcotic Phase 2

Interventional clinical trials:

(show top 50) (show all 83)
# Name Status NCT ID Phase Drugs
1 Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist Unknown status NCT00668824 Phase 4 Vasovist
2 MYOCARDIAL PROTECTION AND CLINICAL OUTCOME IN PATIENTS UNDERGOING TETRALOGY OF FALLOT REPAIR: A RANDOMIZED STUDY OF TWO CARDIOPLEGIC TECHNIQUES Completed NCT02646254 Phase 4
3 The Anti-inflammatory and Anti-oxidant Effects of Propofol and Sevoflurane in Children With Cyanotic Congenital Heart Disease Not yet recruiting NCT04125550 Phase 4 Propofol;Sevoflurane
4 Eplerenone to Prevent Myocardial Fibrosis in Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
5 Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of Fallot Unknown status NCT01941576 Phase 2, Phase 3 recombinant human brain natriuretic peptide (rhBNP);Placebo (0.9% sodium chloride)
6 Multi-center Trial of Percutaneous Pulmonary Valve Implantation Using Venus-P Valve for Patients With Severe Pulmonary Regurgitation and Native Right Ventricular Outflow Tract After Previous Surgical Repair Unknown status NCT02590679 Phase 2, Phase 3
7 Pulmonary Valve Replacement : Study of Comparison Between a Standard Surgical Approach With Extracorporeal Circulation and an Off-pump Hybrid Strategy. Completed NCT00259207 Phase 3
8 Nitric Oxide Administration During Pediatric Cardiopulmonary Bypass Surgery to Prevent Platelet activation-a Single Center Pilot Study Completed NCT03455218 Phase 2, Phase 3 Nitric Oxide;Placebo
9 Cardiac Imaging Under Exercise Stress Test for Early Assessment of Right Ventricular Function in Patients With Tetralogy of Fallot and Pulmonary Regurgitation Terminated NCT00564993 Phase 3 Dobutamin
10 Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone System Unknown status NCT02010905 Phase 2 Losartan;Placebo
11 Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF). Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
12 A Trial of Inhaled Nitric Oxide (NO) as an Anti-Inflammatory and Anti-Reperfusion Agent in the Treatment of Infants and Children Undergoing Cardiopulmonary Bypass for Repair of Congenital Heart Disease Completed NCT00585013 Phase 1, Phase 2 Nitric Oxide
13 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
14 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
15 The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
16 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
17 Application of Biocardiac Model in Total Correction of Tetralogy of Fallot Unknown status NCT00155428
18 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot. Unknown status NCT02186691
19 Comparison of Right Ventricular Outflow Tract Gradient Under Anaesthesia With Post-operative Gradient in Patients Undergoing Tetralogy of Fallot Repair Unknown status NCT03234582
20 Physical Capacity and Activity in Children With Congenital Heart Disease in Chile Unknown status NCT03275844
21 Abnormal Neurodevelopment Detection in Congenital Heart Disease: Predictive Methods Based on Prenatal and Postnatal Factors. Unknown status NCT02996630
22 Influence of Different Types of Exercise Training on Selected Cardiovascular Parameters in Adult Individuals With Corrected Tetralogy of Fallot Completed NCT02643810
23 Tissue Doppler Imaging - A Promising Technique To Assess Myocardial Function In Adult Fallot Patients Completed NCT03835494
24 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot: Prospective Analysis of Myocardial Benefit Using Cardiac MRI and Echocardiography Completed NCT00536432
25 MRI Assessment of Right and Left Ventricular Strain, Associated Function, Volume and ECG Parameters as Predictors of Optimal Timing for Pulmonary Valve Replacement in Patients Post Repair for Tetralogy of Fallot Completed NCT00489788
26 Evaluation of Right Ventricular Contractility Reserve Function During Dobutamine Stress in Patients Following Surgical Repair of Tetralogy of Fallot Completed NCT00557934
27 Retrospective Review of Anesthetic Considerations for Pulmonary Artery Rehabilitation Completed NCT02586740
28 MRI Assessment of Right Ventricular Function in Patients After Repair of Tetralogy of Fallot Completed NCT00722826
29 Non-invasive Imaging and Exercise Tolerance Tests in Post-repair Tetralogy of Fallot - Intervention and Course in Patients Over 8 Years Old Completed NCT00266188
30 Early Revalvulation After Fallot Repair Improves Clinical Outcome Completed NCT02534792
31 Assessment of Right Ventricular Volume Using the Ventripoint Medical System in Patients With Tetralogy of Fallott Following Repair; A Comparison Study to cMRI Completed NCT01419756
32 MRI Assessment of Two Congenital Heart Disease States: Assessment of Right Ventricular Function: Predictor of Optimal Timing of Pulmonary Valve Replacement in Patients With TOF; Assessment of Flow Dynamics in Patients With Aortic Coarctation Completed NCT00277901
33 Quantification of the Myocardial Microcirculation by Contrast Echocardiography In Adult Patients With Congenital Heart Disease Completed NCT00412685
34 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
35 Randomized Trial of Pulmonary Valve Replacement in Tetralogy of Fallot Completed NCT00112320
36 Proposal for Retrospective Review of Imaging Pre- and Post - Pulmonary Valve Replacement Completed NCT00446108
37 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
38 Family Study of Congenital Cardiovascular Malformations Completed NCT00005258
39 Pulmonic SAPIEN XT™ THV A Multi-center, Observational Registry With Retrospective Enrollment of Patients That Underwent Transcatheter Pulmonic Valve Implantation and a Retrospective or Prospective Follow-up Completed NCT02302131
40 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
41 Left Ventricular Function in Ebstein Anomaly: Assessment by 3D Echocardiography and Speckle Tracking. Assessment and Validation of the Right Ventricle by VentriPoint Method. Completed NCT01907971
42 SPY Imaging System: Its Role in Pediatric Cardiac Surgery Completed NCT00446927
43 Computer Modeling of Congenital Heart Disease Completed NCT00366847
44 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753
45 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
46 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442
47 Biventricular Pacing in Children With Wide QRS After Surgery for Congenital Heart Disease Completed NCT02644824
48 Reoxygenation Cardiopulmonary Bypass for Surgical Repair of Pediatric Cyanotic CHD Recruiting NCT03568357
49 French National Registry of Patients With Tetralogy of Fallot and Implantable Cardioverter Defibrillator Recruiting NCT03837574
50 Prospective Evaluation of Programmed Ventricular Stimulation Before Pulmonary Valve Replacement in Patients With Tetralogy of Fallot Recruiting NCT04205461

Search NIH Clinical Center for Tetralogy of Fallot

Cochrane evidence based reviews: tetralogy of fallot

Genetic Tests for Tetralogy of Fallot

Genetic tests related to Tetralogy of Fallot:

# Genetic test Affiliating Genes
1 Tetralogy of Fallot 29 GATA4 GATA6 JAG1 NKX2-5 TBX1 ZFPM2

Anatomical Context for Tetralogy of Fallot

MalaCards organs/tissues related to Tetralogy of Fallot:

40
Heart, Lung, Brain, Skin, Liver, Testes, Thyroid

Publications for Tetralogy of Fallot

Articles related to Tetralogy of Fallot:

(show top 50) (show all 8515)
# Title Authors PMID Year
1
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 61 56 6
20807224 2011
2
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 61 56 6
21110066 2010
3
Identification of GATA6 sequence variants in patients with congenital heart defects. 61 56 6
20581743 2010
4
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 61 56 6
20631719 2010
5
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 61 56 6
19948535 2010
6
GATA4 mutations in 486 Chinese patients with congenital heart disease. 61 56 6
18672102 2008
7
GATA4 sequence variants in patients with congenital heart disease. 61 56 6
18055909 2007
8
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 61 56 6
14517948 2003
9
NKX2.5 mutations in patients with tetralogy of fallot. 61 56 6
11714651 2001
10
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 61 56 6
11152664 2001
11
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 61 56 6
10587520 1999
12
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 61 6
20456451 2010
13
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. 61 56
19597493 2009
14
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 61 6
17924340 2007
15
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. 61 56
15937089 2005
16
NKX2.5 mutations in patients with congenital heart disease. 61 6
14607454 2003
17
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. 61 6
12649809 2003
18
Chromosome abnormalities in congenital heart disease. 61 56
9188669 1997
19
Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. 61 56
9132487 1997
20
Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome. 61 56
8923932 1996
21
Tetralogy of Fallot in three siblings: a familial study and review of the literature. 61 56
1425789 1992
22
Tetralogy of Fallot in three sibs. 61 56
2260602 1990
23
An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. 61 56
4050848 1985
24
Tetralogy of Fallot with pulmonary atresia in siblings. 61 56
4003436 1985
25
Tetralogy of Fallot with right aortic arch in three successive generations. 61 56
4834778 1974
26
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
27
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 6
24702427 2015
28
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 6
24549039 2014
29
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. 56
22939634 2012
30
Spectrum of heart disease associated with murine and human GATA4 mutation. 6
17643447 2007
31
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 6
16418214 2006
32
Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system. 6
15917268 2005
33
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
34
A family study of Fallot's tetralogy. 56
5065286 1972
35
A family study of Fallot's tetrad. 56
13943847 1962
36
Impact of maternal pulmonary insufficiency on fetal growth in pregnancy. 61
30130989 2020
37
Left ventricular filling pressure in Tetralogy of Fallot: Correlation between invasive and noninvasive indices. 61
31909179 2020
38
Clinical significance of right atrial volume in patients with repaired tetralogy of Fallot. 61
31638655 2020
39
4D flow MRI versus conventional 2D for measuring pulmonary flow after Tetralogy of Fallot repair. 61
31676117 2020
40
Early palliative balloon pulmonary valvuloplasty in neonates and young infants with tetralogy of Fallot. 61
31302722 2020
41
Conal branch from the left anterior descending artery in Tetralogy of Fallot. 61
32027404 2020
42
Effect of right ventricular pacing on left ventricular systolic function in patients with Tetralogy of Fallot. 61
31763440 2020
43
The applications and potential limitations of right ventricular volumes as surrogate marker in tetralogy of fallot. 61
31763442 2020
44
Right ventricular outflow tract reconstruction with the Labcor® stentless valved pulmonary conduit. 61
31302680 2020
45
Pregnant Women With Uncorrected Congenital Heart Disease: Heart Failure and Mortality. 61
31511192 2020
46
Pulmonary hemorrhage in children with Alagille syndrome undergoing cardiac catheterization. 61
31584246 2020
47
Quantification of Initial Right Ventricular Dimensions by Computed Tomography in Infants with Congenital Heart Disease and a Hypoplastic Right Ventricle. 61
31997595 2020
48
Living With, and Caring for, Congenital Heart Disease in Australia: Insights From the Congenital Heart Alliance of Australia and New Zealand Online Survey. 61
30826267 2020
49
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. 61
32037394 2020
50
Changes in left and right ventricular longitudinal function after pulmonary valve replacement in patients with Tetralogy of Fallot. 61
31886724 2020

Variations for Tetralogy of Fallot

ClinVar genetic disease variations for Tetralogy of Fallot:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH1 NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp)SNV Pathogenic 221999 rs774966208 9:139417466-139417466 9:136523014-136523014
2 TBX1 TBX1, 30-BP DUP, NT1399duplication Pathogenic 7568
3 JAG1 NM_000214.3(JAG1):c.551G>A (p.Arg184His)SNV Pathogenic 7620 rs121918351 20:10639259-10639259 20:10658611-10658611
4 NKX2-5 NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)SNV Pathogenic 9010 rs104893905 5:172659901-172659901 5:173232898-173232898
5 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
6 GATA4 NM_002052.5(GATA4):c.357_359CGC[5] (p.Ala126dup)short repeat Pathogenic 30104 8:11566175-11566176 8:11708666-11708667
7 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)deletion Pathogenic 523556 rs1554034812 5:37059040-37059040 5:37058938-37058938
8 MT-CO1 NC_012920.1(MT-CO1):m.6941deldeletion Pathogenic 587690 rs1569484126 MT:6939-6939 MT:6939-6939
9 MT-CO2 NC_012920.1(MT-CO2):m.7639deldeletion Pathogenic 587691 rs1569484164 MT:7638-7638 MT:7638-7638
10 MT-CO1 NC_012920.1(MT-CO1):m.6902deldeletion Pathogenic 590294 rs1569484122 MT:6900-6900 MT:6900-6900
11 MT-CO1 NC_012920.1(MT-CO1):m.6927deldeletion Pathogenic 590295 rs1569484124 MT:6925-6925 MT:6925-6925
12 MT-CO1 NC_012920.1(MT-CO1):m.5954deldeletion Pathogenic 590893 rs1569484042 MT:5954-5954 MT:5954-5954
13 MT-CO3 NC_012920.1:m.9441_9442insTTTinsertion Pathogenic 599027 rs1569484301 MT:9441-9442 MT:9441-9442
14 MT-CO3 NC_012920.1:m.9273_9274insATCinsertion Pathogenic 599028 rs1569484288 MT:9273-9274 MT:9273-9274
15 MT-CO3 NC_012920.1:m.9429_9430insCCCinsertion Pathogenic 599026 rs1569484299 MT:9429-9430 MT:9429-9430
16 subset of 22 genes: GATA4 GRCh37/hg19 8p23.1(chr8:8403375-11805960)copy number loss Pathogenic 625634 8:8403375-11805960
17 subset of 39 genes: CSMD1 GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)copy number loss Pathogenic 625669 8:194617-7787444
18 TPM1 NM_001018005.2(TPM1):c.114+2T>CSNV Likely pathogenic 370039 rs1114167357 15:63335144-63335144 15:63042945-63042945
19 MT-CO1 NC_012920.1:m.6887_6888insGGGinsertion Likely pathogenic 590898 rs1569484120 MT:6887-6888 MT:6887-6888
20 JAG1 NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)SNV Likely pathogenic 7624 rs28939668 20:10633181-10633181 20:10652533-10652533
21 EPHB4 NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu)SNV Likely pathogenic 222000 rs1057515420 7:100417496-100417496 7:100819874-100819874
22 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)SNV Conflicting interpretations of pathogenicity 9008 rs28936670 5:172662014-172662014 5:173235011-173235011
23 NKX2-5 NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)SNV Conflicting interpretations of pathogenicity 9009 rs104893904 5:172662026-172662026 5:173235023-173235023
24 GATA4 NM_002052.5(GATA4):c.487C>T (p.Pro163Ser)SNV Conflicting interpretations of pathogenicity 30099 rs387906769 8:11566308-11566308 8:11708799-11708799
25 GATA4 NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln)SNV Conflicting interpretations of pathogenicity 30103 rs115099192 8:11615875-11615875 8:11758366-11758366
26 GDF1 NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)SNV Conflicting interpretations of pathogenicity 6749 rs121434424 19:18980040-18980040 19:18869231-18869231
27 GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn)SNV Conflicting interpretations of pathogenicity 9034 rs56208331 8:11615928-11615928 8:11758419-11758419
28 ZFPM2 NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)SNV Conflicting interpretations of pathogenicity 39518 rs187043152 8:106813942-106813942 8:105801714-105801714
29 GATA4 NM_002052.5(GATA4):c.822C>T (p.Cys274=)SNV Conflicting interpretations of pathogenicity 44336 rs55980825 8:11607658-11607658 8:11750149-11750149
30 TBX1 NM_080647.1(TBX1):c.385G>A (p.Glu129Lys)SNV Conflicting interpretations of pathogenicity 488618 rs1445910672 22:19748778-19748778 22:19761255-19761255
31 TBX1 NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp)SNV Conflicting interpretations of pathogenicity 518715 rs781731042 22:19753951-19753951 22:19766428-19766428
32 JAG1 NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)SNV Conflicting interpretations of pathogenicity 522881 rs769531968 20:10624455-10624455 20:10643807-10643807
33 IRX4 NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu)SNV Uncertain significance 523432 rs1175075312 5:1878471-1878471 5:1878357-1878357
34 46;XX;t(7;12)(q11.2;q12).ishTranslocation Uncertain significance 267890
35 ACTN2 NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr)SNV Uncertain significance 43920 rs146164600 1:236917337-236917337 1:236754037-236754037
36 GATA6 NM_005257.5(GATA6):c.233T>C (p.Leu78Pro)SNV Uncertain significance 540134 rs1253034411 18:19751338-19751338 18:22171377-22171377
37 GATA6 NM_005257.5(GATA6):c.839G>C (p.Gly280Ala)SNV Uncertain significance 540131 rs904519303 18:19751944-19751944 18:22171983-22171983
38 JAG1 NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)SNV Uncertain significance 536530 rs769242977 20:10620412-10620412 20:10639764-10639764
39 ZFPM2 NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)SNV Uncertain significance 560631 rs200311467 8:106813628-106813628 8:105801400-105801400
40 NKX2-5 NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)SNV Uncertain significance 9011 rs104893902 5:172659891-172659891 5:173232888-173232888
41 JAG1 NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)SNV Uncertain significance 234323 rs149419694 20:10622447-10622447 20:10641799-10641799
42 JAG1 NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)SNV Uncertain significance 424319 rs143966918 20:10620336-10620336 20:10639688-10639688
43 GATA4 NM_002052.5(GATA4):c.263G>T (p.Gly88Val)SNV Uncertain significance 472776 rs980402710 8:11566084-11566084 8:11708575-11708575
44 TBX1 NM_080647.1(TBX1):c.1374C>G (p.Pro458=)SNV Uncertain significance 598931 rs753192876 22:19754276-19754276 22:19766753-19766753
45 TBX1 NM_080647.1(TBX1):c.324C>T (p.Ala108=)SNV Uncertain significance 626178 rs757290764 22:19748717-19748717 22:19761194-19761194
46 CRELD1 NM_001077415.3(CRELD1):c.1049-376T>GSNV Uncertain significance 627519 rs73118372 3:9985673-9985673 3:9943989-9943989
47 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)SNV Likely benign 6128 rs121908601 8:106431420-106431420 8:105419192-105419192
48 GATA6 NM_005257.5(GATA6):c.592C>G (p.Leu198Val)SNV Likely benign 30208 rs387906814 18:19751697-19751697 18:22171736-22171736
49 GATA6 NM_005257.5(GATA6):c.551G>A (p.Ser184Asn)SNV Benign/Likely benign 30210 rs387906816 18:19751656-19751656 18:22171695-22171695
50 ZFPM2 NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)SNV Benign 6127 rs28374544 8:106814279-106814279 8:105802051-105802051

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

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Ala9Pro VAR_071514 rs864321699
2 GATA4 p.Leu51Val VAR_071515
3 GATA4 p.Asn285Ser VAR_071516
4 GATA6 p.Ser184Asn VAR_067382 rs387906816
5 GDF1 p.Gly162Asp VAR_065333 rs121434424
6 GDF1 p.Ser309Pro VAR_065336 rs864622513
7 GDF1 p.Pro312Thr VAR_065337
8 JAG1 p.Gly274Asp VAR_013200 rs28939668
9 JAG1 p.Pro810Leu VAR_080876 rs769531968
10 NKX2-5 p.Glu21Gln VAR_038215 rs104893904
11 NKX2-5 p.Gln22Pro VAR_038216 rs201442000
12 NKX2-5 p.Arg216Cys VAR_038239 rs104893905
13 NKX2-5 p.Ala219Val VAR_038240 rs104893902
14 NKX2-5 p.Ala323Thr VAR_038253
15 ZFPM2 p.Glu30Gly VAR_017942 rs121908601
16 ZFPM2 p.Ser657Gly VAR_017943 rs28374544
17 ZFPM2 p.Met544Ile VAR_072075 rs187043152

Copy number variations for Tetralogy of Fallot from CNVD:

7 (show top 50) (show all 82)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 18024 1 143590972 147572692 Deletion GJA5 Tetralogy of Fallot
2 18240 1 144643825 146273899 Deletion Tetralogy of Fallot
3 18241 1 144643825 146311415 Deletion Tetralogy of Fallot
4 18242 1 144643825 146395961 Deletion Tetralogy of Fallot
5 18456 1 145700719 145711066 Deletion Tetralogy of Fallot
6 27286 1 206337728 206399274 Deletion Tetralogy of Fallot
7 28225 1 220214502 221265766 Deletion DISP1 Tetralogy of Fallot
8 29908 1 237983869 238365506 Deletion CHRM3 Tetralogy of Fallot
9 32270 1 35138921 35758859 Deletion SFPQ Tetralogy of Fallot
10 49152 11 103542068 104794260 Deletion CASP1 Tetralogy of Fallot
11 49153 11 103542068 104794260 Deletion CASP4 Tetralogy of Fallot
12 49154 11 103542068 104794260 Deletion CASP5 Tetralogy of Fallot
13 64229 12 125358126 126151370 Deletion Tetralogy of Fallot
14 66885 12 33432314 34007723 Deletion Tetralogy of Fallot
15 70508 12 62843704 62921993 Deletion C12orf66 Tetralogy of Fallot
16 74277 13 103096790 103922205 Deletion Tetralogy of Fallot
17 76408 13 31086497 35813387 Deletion PDS5B Tetralogy of Fallot
18 76409 13 31086497 35813387 Deletion SPG20 Tetralogy of Fallot
19 76410 13 31086497 35813387 Deletion bNBEA Tetralogy of Fallot
20 76685 13 34960143 34980763 Deletion NBEA Tetralogy of Fallot
21 77291 13 42009354 42564700 Deletion TNFSF11 Tetralogy of Fallot
22 99945 16 29487535 30085309 Deletion HIRIP3 Tetralogy of Fallot
23 99946 16 29487535 30085309 Deletion cMAPK3 Tetralogy of Fallot
24 105835 16 83066869 83082922 Deletion KIAA1609 Tetralogy of Fallot
25 108016 17 18296117 18991652 Deletion FOXO3B Tetralogy of Fallot
26 110245 17 31610407 33552902 Deletion HNF1B Tetralogy of Fallot
27 111711 17 366915 910860 Deletion NXN Tetralogy of Fallot
28 115189 17 5528898 6196702 Deletion Tetralogy of Fallot
29 122847 18 62118826 62372859 Deletion CDH19 Tetralogy of Fallot
30 123196 18 69207652 72613723 Deletion CNDP2 Tetralogy of Fallot
31 123435 18 72614319 76116030 Deletion PARD6G Tetralogy of Fallot
32 123436 18 72614319 76116030 Deletion cNFATC1 Tetralogy of Fallot
33 126356 19 183496 989223 Deletion CNN2 Tetralogy of Fallot
34 126357 19 183496 989223 Deletion FSTL3 Tetralogy of Fallot
35 126358 19 183496 989223 Deletion PTBP1 Tetralogy of Fallot
36 127107 19 2500048 3208416 Deletion GNA11 Tetralogy of Fallot
37 127108 19 2500048 3208416 Deletion S1PR4 Tetralogy of Fallot
38 128034 19 38902591 38929184 Deletion CHST8 Tetralogy of Fallot
39 132130 19 57807872 58437550 Deletion ZNF347 Tetralogy of Fallot
40 136532 2 131194418 132021416 Deletion ARHGEF4 Tetralogy of Fallot
41 137930 2 154772039 156750900 Deletion Tetralogy of Fallot
42 138147 2 158961179 159012386 Deletion CCDC148 Tetralogy of Fallot
43 139813 2 188273007 188973872 Deletion Tetralogy of Fallot
44 141695 2 215266200 215351867 Deletion BARD1 Tetralogy of Fallot
45 144801 2 29418234 30987444 Deletion LBH Tetralogy of Fallot
46 150279 2 97982662 98531050 Deletion Tetralogy of Fallot
47 157649 21 20282405 20842782 Deletion Tetralogy of Fallot
48 158107 21 29607482 30244785 Deletion Tetralogy of Fallot
49 160268 22 11800000 24300000 Microdeletion Tetralogy of fallot
50 160563 22 15996510 16081372 Deletion CECR5 Tetralogy of Fallot

Expression for Tetralogy of Fallot

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

Pathways for Tetralogy of Fallot

Pathways related to Tetralogy of Fallot according to KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

GO Terms for Tetralogy of Fallot

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.4 ZFPM2 TBX5 TBX20 TBX1 NKX2-6 NKX2-5
2 respiratory chain complex IV GO:0045277 9.13 MT-CO3 MT-CO2 MT-CO1

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

(show top 50) (show all 76)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.3 TBX5 TBX20 TBX1 NOTCH1 NKX2-6 NKX2-5
2 multicellular organism development GO:0007275 10.26 TBX5 TBX20 TBX1 NOTCH1 NKX2-6 NKX2-5
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.22 ZFPM2 TBX5 TBX20 TBX1 NOTCH1 NKX2-5
4 regulation of transcription by RNA polymerase II GO:0006357 10.21 ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL HIRA
5 negative regulation of transcription, DNA-templated GO:0045892 10.16 ZFPM2 TBX20 NOTCH1 NKX2-5 NIPBL GATA6
6 positive regulation of gene expression GO:0010628 10.11 RET NOTCH1 NKX2-5 GATA5 CITED2
7 angiogenesis GO:0001525 10.03 TBX1 NOTCH1 JAG1 GJA5
8 in utero embryonic development GO:0001701 10.02 ZFPM2 NOTCH1 GATA6 CITED2
9 blood coagulation GO:0007596 10 ZFPM2 GATA6 GATA5 GATA4
10 positive regulation of transcription, DNA-templated GO:0045893 10 ZFPM2 TBX5 TBX20 TBX1 RET NOTCH1
11 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 ZFPM2 TBX5 TBX20 TBX1 NOTCH1 NKX2-6
12 proton transmembrane transport GO:1902600 9.93 MT-CO3 MT-CO2 MT-CO1
13 male gonad development GO:0008584 9.92 GATA6 GATA4 CITED2
14 lung development GO:0030324 9.91 ZFPM2 TBX5 NOTCH1
15 liver development GO:0001889 9.91 NOTCH1 GATA6 CITED2
16 vasculogenesis GO:0001570 9.91 ZFPM2 TBX20 NKX2-5 CITED2
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.91 ZFPM2 TBX5 TBX20 NOTCH1 GATA6
18 determination of left/right symmetry GO:0007368 9.9 TBX1 NOTCH1 CITED2
19 ventricular septum morphogenesis GO:0060412 9.89 ZFPM2 NOTCH1 NKX2-5 GJA5 CITED2
20 negative regulation of cell differentiation GO:0045596 9.88 TBX1 NOTCH1 JAG1
21 cell fate specification GO:0001708 9.88 TBX5 TBX20 TBX1 NOTCH1
22 ventricular septum development GO:0003281 9.88 TBX5 GJA5 GATA4 CITED2
23 aortic valve morphogenesis GO:0003180 9.88 TBX20 NOTCH1 JAG1 GATA5 GATA4
24 heart looping GO:0001947 9.88 TBX20 TBX1 NOTCH1 NKX2-5 GATA4 CITED2
25 embryonic limb morphogenesis GO:0030326 9.87 TBX5 NOTCH1 GJA5
26 heart morphogenesis GO:0003007 9.87 TBX1 NKX2-5 NIPBL
27 blood vessel development GO:0001568 9.86 TBX1 GJA5 CITED2
28 cardiac muscle cell differentiation GO:0055007 9.85 TBX5 NKX2-5 GATA6 GATA4
29 outflow tract septum morphogenesis GO:0003148 9.85 ZFPM2 TBX20 TBX1 NKX2-5 GATA6
30 embryonic heart tube development GO:0035050 9.84 TBX20 NKX2-6 NKX2-5 GJA5
31 endocardial cushion development GO:0003197 9.83 TBX5 NOTCH1 GATA4 CITED2
32 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.82 MT-CO3 MT-CO2 MT-CO1
33 pharyngeal system development GO:0060037 9.81 TBX1 NKX2-6 NKX2-5
34 cardiac septum morphogenesis GO:0060411 9.81 NOTCH1 JAG1 CITED2
35 cardiac muscle tissue morphogenesis GO:0055008 9.8 TBX20 NOTCH1 NKX2-5
36 cardiac right ventricle morphogenesis GO:0003215 9.8 TBX20 JAG1 GATA4
37 cardiac ventricle morphogenesis GO:0003208 9.77 NOTCH1 NKX2-5 GATA4
38 intestinal epithelial cell differentiation GO:0060575 9.77 GATA6 GATA5 GATA4
39 cardiac muscle tissue development GO:0048738 9.77 ZFPM2 NKX2-5 GATA6 GATA5 GATA4
40 negative regulation of cardiac muscle hypertrophy GO:0010614 9.75 NOTCH1 GATA5
41 negative regulation of myotube differentiation GO:0010832 9.75 NOTCH1 NKX2-5
42 endocardial cushion morphogenesis GO:0003203 9.75 TBX20 NOTCH1
43 ventricular trabecula myocardium morphogenesis GO:0003222 9.74 NOTCH1 NKX2-5
44 negative regulation of stem cell differentiation GO:2000737 9.74 NOTCH1 JAG1
45 aorta morphogenesis GO:0035909 9.74 TBX1 JAG1
46 pulmonary valve morphogenesis GO:0003184 9.74 NOTCH1 JAG1
47 left/right axis specification GO:0070986 9.74 NOTCH1 CITED2
48 cardiac muscle cell proliferation GO:0060038 9.74 NOTCH1 NKX2-5
49 atrioventricular valve morphogenesis GO:0003181 9.73 TBX5 NOTCH1
50 response to muramyl dipeptide GO:0032495 9.73 NOTCH1 JAG1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 ZFPM2 TBX5 TBX20 TBX1 NKX2-6 NKX2-5
2 sequence-specific DNA binding GO:0043565 9.92 TBX5 TBX1 NOTCH1 NKX2-6 NKX2-5 GATA6
3 chromatin binding GO:0003682 9.91 NOTCH1 NKX2-5 NIPBL GATA6 CITED2
4 transcription factor binding GO:0008134 9.88 ZFPM2 TBX5 NKX2-5 GATA6 GATA4
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.85 TBX5 TBX20 TBX1 NKX2-6 GATA4
6 transcription regulatory region DNA binding GO:0044212 9.83 NKX2-5 GATA6 GATA5 GATA4
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.81 ZFPM2 TBX5 TBX20 TBX1 NKX2-6 NKX2-5
8 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 TBX5 TBX20 TBX1 NOTCH1 NKX2-6 NKX2-5
9 RNA polymerase II transcription factor binding GO:0001085 9.67 ZFPM2 TBX20 GATA4
10 RNA polymerase II activating transcription factor binding GO:0001102 9.67 TBX5 TBX20 TBX1 CITED2
11 cytochrome-c oxidase activity GO:0004129 9.58 MT-CO3 MT-CO2 MT-CO1
12 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 TBX5 TBX20 NOTCH1 NKX2-6 NKX2-5 GATA6
13 DNA-binding transcription factor activity GO:0003700 9.36 TBX5 TBX20 TBX1 NOTCH1 NKX2-6 NKX2-5

Sources for Tetralogy of Fallot

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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