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 57 12 20 58 72 36 29 13 6 44 15 62 39 32
Tof 57 20 72
Fallot Tetralogy 73 20
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®:

57 (Updated 05-Apr-2021)
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® 57 187500
KEGG 36 H00549
ICD9CM 34 745.2
MeSH 44 D013771
NCIt 50 C84505
SNOMED-CT 67 156913009
ICD10 32 Q21.3
MESH via Orphanet 45 D013771
ICD10 via Orphanet 33 Q21.3
UMLS via Orphanet 71 C0039685
Orphanet 58 ORPHA3303
MedGen 41 C0039685
UMLS 70 C0039685

Summaries for Tetralogy of Fallot

GARD : 20 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 congenital heart defects, multiple types, 4. An important gene associated with Tetralogy of Fallot is JAG1 (Jagged Canonical Notch Ligand 1), and among its related pathways/superpathways are Notch signaling pathway and Mesodermal Commitment Pathway. The drugs Eplerenone and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are abnormal nasal morphology 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 : 72 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 : 73 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 1108)
# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 33.5 ZFPM2 NOTCH1 NKX2-5 JAG1 GDF1 GATA6
2 congenital heart defects, multiple types, 4 33.4 GATA6 GATA4
3 heart septal defect 33.2 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
4 alagille syndrome 1 33.0 NOTCH1 NKX2-5 JAG1
5 conotruncal heart malformations 33.0 ZFPM2-AS1 ZFPM2 TBX1 NKX2-5 GDF1 GATA6
6 congenital heart defects, multiple types, 6 32.8 GDF1 CERS1
7 atrial heart septal defect 32.5 ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL JAG1
8 atrioventricular septal defect 32.5 ZFPM2 TBX1 NKX2-5 GJA5 GDF1 GATA6
9 patent ductus arteriosus 1 32.4 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GATA6
10 heart disease 32.4 TBX1 ROBO1 NOTCH1 NKX2-5 NIPBL JAG1
11 double outlet right ventricle 32.4 ZFPM2-AS1 ZFPM2 TBX1 NOTCH1 NKX2-5 GJA5
12 dextro-looped transposition of the great arteries 32.1 TBX1 NKX2-5 GDF1 GATA4 CERS1
13 atrioventricular block 32.1 NKX2-5 GJA5 GATA4
14 pulmonary valve stenosis 32.0 NKX2-5 JAG1 GATA4
15 hypertrophic cardiomyopathy 31.8 NKX2-5 MT-CO3 MT-CO2 MT-CO1 GJA5 GATA6
16 patent foramen ovale 31.8 ZFPM2 TBX1 NKX2-5 GJA5 GATA6 GATA5
17 hypoplastic left heart syndrome 31.7 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
18 diaphragmatic hernia, congenital 31.7 ZFPM2-AS1 ZFPM2 NIPBL GATA6 GATA4
19 interatrial communication 31.6 NKX2-5 GATA6 GATA4
20 tricuspid atresia 31.5 ZFPM2 TBX1 NKX2-5 GATA6 GATA4
21 aortic valve disease 1 31.4 TBX1 NOTCH1 NKX2-5 JAG1 GATA6 GATA5
22 hemangioma 31.4 RET NOTCH1 JAG1 FLT4
23 total anomalous pulmonary venous return 1 31.4 NKX2-5 GDF1 GATA4
24 pulmonary valve disease 31.4 NKX2-5 GATA6 GATA4
25 holt-oram syndrome 31.3 TBX1 NKX2-5 GJA5 GATA4
26 lipoprotein quantitative trait locus 31.2 ZFPM2 NOTCH1 NKX2-5 GJA5 GATA4
27 left ventricular noncompaction 31.2 NOTCH1 NKX2-5 JAG1 GJA5 GATA4
28 velocardiofacial syndrome 31.2 TBX1 NKX2-5 GATA4
29 tricuspid valve disease 31.2 NKX2-5 GATA6 GATA4
30 diaphragmatic hernia 3 31.1 ZFPM2-AS1 ZFPM2
31 ebstein anomaly 31.0 ZFPM2 TBX1 NKX2-5 GJA5 GATA4
32 46,xy partial gonadal dysgenesis 30.9 ZFPM2-AS1 ZFPM2 GATA4
33 46,xy sex reversal 9 30.9 ZFPM2-AS1 ZFPM2 GATA4
34 partial atrioventricular canal 30.9 GATA6 GATA4
35 nodular regenerative hyperplasia 30.8 NOTCH1 JAG1
36 tetralogy of fallot and glaucoma 11.6
37 hypertelorism and tetralogy of fallot 11.6
38 ritscher-schinzel syndrome 1 11.4
39 pulmonary atresia with ventricular septal defect 11.4
40 pulmonary valve insufficiency 11.3
41 congenital heart defects, multiple types, 7 11.3
42 duodenal atresia tetralogy of fallot 11.3
43 digeorge syndrome 11.3
44 chromosome 1q21.1 duplication syndrome 11.3
45 tetralogy of fallot syndrome, autosomal recessive 11.3
46 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 11.3
47 spondylometaphyseal dysplasia, corner fracture type 11.2
48 fallot complex with severe mental and growth retardation 11.2
49 ventricular septal defect 1 11.2
50 congenital heart defects, multiple types, 2 11.2

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiac:
tetralogy of fallot

Limbs:
fifth finger clinodactyly

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

Facies:
broad forehead
prominent eyes

Ears:
preauricular pits

Clinical features from OMIM®:

187500 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Tetralogy of Fallot:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.46 EPHB4 FLT4 GATA4 GATA5 GATA6 GDF1
2 cellular MP:0005384 10.39 CERS1 GATA4 GATA5 GATA6 GDF1 JAG1
3 growth/size/body region MP:0005378 10.32 CERS1 EPHB4 FLT4 GATA4 GATA6 GDF1
4 homeostasis/metabolism MP:0005376 10.3 CERS1 FLT4 GATA4 GATA5 GATA6 GJA5
5 digestive/alimentary MP:0005381 10.26 FLT4 GATA4 GATA5 GDF1 GJA5 JAG1
6 embryo MP:0005380 10.25 EPHB4 FLT4 GATA4 GATA6 GDF1 JAG1
7 endocrine/exocrine gland MP:0005379 10.24 GATA4 GATA5 GDF1 GJA5 JAG1 NKX2-5
8 mortality/aging MP:0010768 10.22 CERS1 EPHB4 FLT4 GATA4 GATA5 GATA6
9 immune system MP:0005387 10.17 EPHB4 FLT4 GATA5 GDF1 GJA5 MT-CO1
10 muscle MP:0005369 10.1 EPHB4 FLT4 GATA4 GATA5 GATA6 GJA5
11 craniofacial MP:0005382 10.08 GDF1 JAG1 NIPBL NKX2-5 NOTCH1 ROBO1
12 integument MP:0010771 10.06 FLT4 GATA4 GATA5 JAG1 NKX2-5 NOTCH1
13 liver/biliary system MP:0005370 9.91 FLT4 GATA4 GATA6 GDF1 JAG1 NOTCH1
14 normal MP:0002873 9.77 FLT4 GATA4 GATA6 GDF1 GJA5 JAG1
15 no phenotypic analysis MP:0003012 9.7 FLT4 GATA4 GJA5 JAG1 NKX2-5 RET
16 respiratory system MP:0005388 9.32 GATA4 GATA6 GDF1 GJA5 NKX2-5 NOTCH1

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 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 443872 150310
2 diuretics Phase 4
3 Antihypertensive Agents Phase 4
4 Mineralocorticoids Phase 4
5 Hormone Antagonists Phase 4
6 Hormones Phase 4
7 Mineralocorticoid Receptor Antagonists Phase 4
8 Diuretics, Potassium Sparing Phase 4
9
Dobutamine Approved Phase 3 34368-04-2 36811
10 Adrenergic Agents Phase 3
11 Neurotransmitter Agents Phase 3
12 Cardiotonic Agents Phase 3
13 Adrenergic beta-Agonists Phase 3
14 Adrenergic Agonists Phase 3
15 Sympathomimetics Phase 3
16 Protective Agents Phase 3
17
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
18
Losartan Approved Phase 2 114798-26-4 3961
19
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
20
Sodium citrate Approved, Investigational Phase 2 68-04-2
21
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 5311068 68602
22
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
23 Anti-Arrhythmia Agents Phase 2
24 Giapreza Phase 2
25 Angiotensinogen Phase 2
26 Angiotensin II Type 1 Receptor Blockers Phase 2
27 Angiotensin Receptor Antagonists Phase 2
28 Citrate Phase 2
29 Adrenergic alpha-Agonists Phase 2
30 Anticoagulants Phase 2
31 Analgesics, Non-Narcotic Phase 2
32 Analgesics Phase 2
33 Chelating Agents Phase 2
34 Hypnotics and Sedatives Phase 2
35 Narcotics Phase 2
36 Analgesics, Opioid Phase 2
37 Anesthetics, Intravenous Phase 2
38 Calcium, Dietary Phase 2
39 Anesthetics, General Phase 2
40 Pharmaceutical Solutions Phase 2
41
Calcium Nutraceutical Phase 2 7440-70-2 271
42
Propranolol Approved, Investigational Phase 1 525-66-6 4946
43 Vasodilator Agents Phase 1
44 Adrenergic Antagonists Phase 1
45 Adrenergic beta-Antagonists Phase 1
46
Parathyroid hormone Approved, Investigational 9002-64-6
47
tannic acid Approved 1401-55-4
48
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
49
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
50 Natriuretic Peptide, Brain

Interventional clinical trials:

(show top 50) (show all 59)
# Name Status NCT ID Phase Drugs
1 MYOCARDIAL PROTECTION AND CLINICAL OUTCOME IN PATIENTS UNDERGOING TETRALOGY OF FALLOT REPAIR: A RANDOMIZED STUDY OF TWO CARDIOPLEGIC TECHNIQUES Completed NCT02646254 Phase 4
2 Eplerenone to Prevent Myocardial Fibrosis in Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
3 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
4 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
5 Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone System Unknown status NCT02010905 Phase 2 Losartan;Placebo
6 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
7 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
8 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
9 The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
10 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
11 Mechanistic Clinical Trial of Beta-Blocker Administration For Reactivating Cardiomyocyte Division In Tetrology of Fallot Recruiting NCT04713657 Phase 1 Propranolol Hydrochloride;Placebo
12 Reoxygenation Cardiopulmonary Bypass for Surgical Repair of Pediatric Cyanotic CHD Unknown status NCT03568357
13 Application of Biocardiac Model in Total Correction of Tetralogy of Fallot Unknown status NCT00155428
14 Comparison of Right Ventricular Outflow Tract Gradient Under Anaesthesia With Post-operative Gradient in Patients Undergoing Tetralogy of Fallot Repair Unknown status NCT03234582
15 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot. Unknown status NCT02186691
16 Comparison of Mid-term Results of Total Correction of Tetralogy of Fallot Between Preservation of Pulmonary Valve and Trans-annular Patching Unknown status NCT03732742
17 Cardiac 4D MR Velocity Mapping in Repaired Tetralogy of Fallot Patients: Evaluation of Pulmonary Regurgitant Fraction and Ventricular Volume Unknown status NCT02980614
18 Physical Capacity and Activity in Children With Congenital Heart Disease in Chile Unknown status NCT03275844
19 Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of Fallot Completed NCT01941576 recombinant human brain natriuretic peptide (rhBNP);Placebo (0.9% sodium chloride)
20 Early Revalvulation After Fallot Repair Improves Clinical Outcome Completed NCT02534792
21 Tissue Doppler Imaging - A Promising Technique To Assess Myocardial Function In Adult Fallot Patients Completed NCT03835494
22 Non-invasive Imaging and Exercise Tolerance Tests in Post-repair Tetralogy of Fallot - Intervention and Course in Patients Over 8 Years Old Completed NCT00266188
23 Randomized Trial of Pulmonary Valve Replacement in Tetralogy of Fallot Completed NCT00112320
24 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
25 Influence of Different Types of Exercise Training on Selected Cardiovascular Parameters in Adult Individuals With Corrected Tetralogy of Fallot Completed NCT02643810
26 MRI Assessment of Right Ventricular Function in Patients After Repair of Tetralogy of Fallot Completed NCT00722826
27 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
28 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
29 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
30 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
31 Native Outflow Tract Transcatheter Pulmonary Valve Research Clinical Study Completed NCT01762124
32 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
33 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
34 Quantification of the Myocardial Microcirculation by Contrast Echocardiography In Adult Patients With Congenital Heart Disease Completed NCT00412685
35 Evaluation of Right Ventricular Contractility Reserve Function During Dobutamine Stress in Patients Following Surgical Repair of Tetralogy of Fallot Completed NCT00557934
36 Retrospective Review of Anesthetic Considerations for Pulmonary Artery Rehabilitation Completed NCT02586740
37 Interstitial Myocardial Fibrosis in Repaired Tetralogy of Fallot: Assessment by Molecular and Imaging Biomarkers and Association With Adverse Events ( Myocardial FIbrosis in Repaired Tetralogy of FAllot- FIFA Study) Recruiting NCT04737135
38 Effects of Changes in Fluid Status on Right Ventricular Volumes and Function Recruiting NCT02967315
39 French National Registry of Patients With Tetralogy of Fallot and Implantable Cardioverter Defibrillator Recruiting NCT03837574
40 The Effect of Different Contouring Techniques on Cardiac Magnetic Resonance Assessment of Right Ventricular Volumes in Repaired Tetraology of Fallot: Implications on Preoperative Thresholds for Intervention Recruiting NCT04359940
41 Impact of NAVA Ventilation on Brain Oxygenation and Perfusion in Children With Congenital Heart Disease Recruiting NCT04581668
42 Early Versus Later Re-valving in Tetralogy of Fallot With Free Pulmonary Regurgitation - Combined Cross-sectional and Prospective, Multi-centre, Randomized, Parallel-group Clinical Trial Recruiting NCT04084132
43 Early Right Ventricular Function After Repair Of Tetralogy Of Fallot , An Evidence Based Study. Recruiting NCT03470064
44 Multicenter Study of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777
45 The International Stress Echo Study in Ischemic and Non-ischemic Heart Disease Recruiting NCT03049995
46 Molecular and Cellular Characterization of Cardiac Tissue in Postnatal Development Recruiting NCT00243776
47 Imaging by 4 DFlow in Patients With Tetralogy of Fallot Recruiting NCT03542968
48 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
49 The PULSTA Transcatheter Pulmonary Valve (TPV) Pre-Approval Study Recruiting NCT03983512
50 Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease? Recruiting NCT04106479

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, Liver, Endothelial, Kidney, Trachea

Publications for Tetralogy of Fallot

Articles related to Tetralogy of Fallot:

(show top 50) (show all 9040)
# Title Authors PMID Year
1
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6 57 61
20807224 2011
2
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 61 6 57
21110066 2010
3
Identification of GATA6 sequence variants in patients with congenital heart defects. 57 6 61
20581743 2010
4
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 57 61 6
20631719 2010
5
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 57 6 61
19948535 2010
6
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. 57 6 61
19597493 2009
7
GATA4 mutations in 486 Chinese patients with congenital heart disease. 61 6 57
18672102 2008
8
GATA4 sequence variants in patients with congenital heart disease. 61 57 6
18055909 2007
9
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 61 6 57
14517948 2003
10
NKX2.5 mutations in patients with tetralogy of fallot. 61 6 57
11714651 2001
11
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 61 57 6
11152664 2001
12
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 61 57 6
10587520 1999
13
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. 61 6
28592524 2017
14
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 61 6
20456451 2010
15
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 6 61
20437614 2010
16
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 61 6
17924340 2007
17
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. 61 57
15937089 2005
18
NKX2.5 mutations in patients with congenital heart disease. 6 61
14607454 2003
19
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. 6 61
12649809 2003
20
Chromosome abnormalities in congenital heart disease. 61 57
9188669 1997
21
Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. 61 57
9132487 1997
22
Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome. 57 61
8923932 1996
23
Tetralogy of Fallot in three siblings: a familial study and review of the literature. 57 61
1425789 1992
24
Tetralogy of Fallot in three sibs. 61 57
2260602 1990
25
An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. 61 57
4050848 1985
26
Tetralogy of Fallot with pulmonary atresia in siblings. 61 57
4003436 1985
27
Tetralogy of Fallot with right aortic arch in three successive generations. 61 57
4834778 1974
28
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 6
28359939 2017
29
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 6
27760138 2016
30
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
31
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 6
24702427 2015
32
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 6
24549039 2014
33
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. 57
22939634 2012
34
Spectrum of heart disease associated with murine and human GATA4 mutation. 6
17643447 2007
35
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 6
16418214 2006
36
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
37
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
38
A family study of Fallot's tetralogy. 57
5065286 1972
39
A family study of Fallot's tetrad. 57
13943847 1962
40
A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. 61
33159669 2021
41
The impact of pulmonary valve replacement on pregnancy outcomes in women with tetralogy of Fallot. 61
33571563 2021
42
Intraoperative Conundrum Between Hepatic Vein and Partial Anomalous Pulmonary Vein Connection in a Case of Tetralogy of Fallot With Persistent Left Superior Vena Cava. 61
32563628 2021
43
Response to: Esophageal atresia and tracheoesophageal fistula associated with tetralogy of Fallot: a review of mortality. KM O'Shea, ML Griffiths, KL King, P Losty, M Jones, J Minford, F Murphy. Pediatr Surg Int. 2020 Oct; 36(10):1243-1247. 61
33386444 2021
44
Erratum: Blood flow simulations in the pulmonary bifurcation in relation to adult patients with repaired tetralogy of Fallot. 61
33781482 2021
45
Use of angled hegar dialator for antegrade sizing of the right ventricular outflow tract in tetralogy of Fallot. 61
33625748 2021
46
We should reframe the discussion/debate about neonatal repair of tetralogy of Fallot. 61
32741629 2021
47
Reliability of respiratory-triggered two-dimensional cine k-adaptive-t-autocalibrating reconstruction for Cartesian sampling for the assessment of biventricular volume and function in patients with repaired tetralogy of Fallot. 61
33733811 2021
48
Exposure to air pollutants and risk of congenital anomalies: A systematic review and metaanalysis. 61
33183823 2021
49
TREC Screening for WHIM Syndrome. 61
33415666 2021
50
In Vitro Assessment of Right Ventricular Outflow Tract Anatomy and Valve Orientation Effects on Bioprosthetic Pulmonary Valve Hemodynamics. 61
33452649 2021

Variations for Tetralogy of Fallot

ClinVar genetic disease variations for Tetralogy of Fallot:

6 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 22 genes GRCh37/hg19 8p23.1(chr8:8403375-11805960) copy number loss Pathogenic 625634 GRCh37: 8:8403375-11805960
GRCh38:
2 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) SNV Pathogenic 6127 rs28374544 GRCh37: 8:106814279-106814279
GRCh38: 8:105802051-105802051
3 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Pathogenic 6128 rs121908601 GRCh37: 8:106431420-106431420
GRCh38: 8:105419192-105419192
4 NKX2-5 NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) SNV Pathogenic 9010 rs104893905 GRCh37: 5:172659901-172659901
GRCh38: 5:173232898-173232898
5 GATA4 NM_002052.5(GATA4):c.1220C>A (p.Pro407Gln) SNV Pathogenic 30103 rs115099192 GRCh37: 8:11615875-11615875
GRCh38: 8:11758366-11758366
6 GATA6 NM_005257.5(GATA6):c.592C>G (p.Leu198Val) SNV Pathogenic 30208 rs387906814 GRCh37: 18:19751697-19751697
GRCh38: 18:22171736-22171736
7 GATA6 NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) SNV Pathogenic 30210 rs387906816 GRCh37: 18:19751656-19751656
GRCh38: 18:22171695-22171695
8 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) SNV Pathogenic 39518 rs187043152 GRCh37: 8:106813942-106813942
GRCh38: 8:105801714-105801714
9 GATA4 NM_002052.5(GATA4):c.357_359CGC[5] (p.Ala126dup) Microsatellite Pathogenic 30104 rs1182566703 GRCh37: 8:11566175-11566176
GRCh38: 8:11708666-11708667
10 GATA6 NM_005257.6(GATA6):c.23G>A (p.Trp8Ter) SNV Pathogenic 977802 GRCh37: 18:19751128-19751128
GRCh38: 18:22171167-22171167
11 NKX2-5 NM_004387.4(NKX2-5):c.439del (p.Gln147fs) Deletion Pathogenic 982415 GRCh37: 5:172660108-172660108
GRCh38: 5:173233105-173233105
12 JAG1 NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) SNV Pathogenic 7624 rs28939668 GRCh37: 20:10633181-10633181
GRCh38: 20:10652533-10652533
13 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) Deletion Pathogenic 523556 rs1554034812 GRCh37: 5:37059040-37059040
GRCh38: 5:37058938-37058938
14 JAG1 NM_000214.3(JAG1):c.228del (p.Val77fs) Deletion Pathogenic 930690 GRCh37: 20:10653508-10653508
GRCh38: 20:10672860-10672860
15 TBX1 TBX1, 30-BP DUP, NT1399 Duplication Pathogenic 7568 GRCh37:
GRCh38:
16 GATA4 NM_002052.5(GATA4):c.487C>T (p.Pro163Ser) SNV Pathogenic 30099 rs387906769 GRCh37: 8:11566308-11566308
GRCh38: 8:11708799-11708799
17 overlap with 39 genes GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) copy number loss Pathogenic 625669 GRCh37: 8:194617-7787444
GRCh38:
18 MT-CO3 NC_012920.1:m.9441_9442insTTT Insertion Pathogenic 599027 rs1569484301 GRCh37: MT:9441-9442
GRCh38: MT:9441-9442
19 MT-CO1 NC_012920.1(MT-CO1):m.6941del Deletion Pathogenic 587690 rs1569484126 GRCh37: MT:6939-6939
GRCh38: MT:6939-6939
20 MT-CO1 NC_012920.1(MT-CO1):m.6927del Deletion Pathogenic 590295 rs1569484124 GRCh37: MT:6925-6925
GRCh38: MT:6925-6925
21 MT-CO3 NC_012920.1:m.9429_9430insCCC Insertion Pathogenic 599026 rs1569484299 GRCh37: MT:9429-9430
GRCh38: MT:9429-9430
22 MT-CO3 NC_012920.1:m.9273_9274insATC Insertion Pathogenic 599028 rs1569484288 GRCh37: MT:9273-9274
GRCh38: MT:9273-9274
23 CERS1 , GDF1 NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) SNV Pathogenic 6749 rs121434424 GRCh37: 19:18980040-18980040
GRCh38: 19:18869231-18869231
24 MT-CO2 NC_012920.1(MT-CO2):m.7639del Deletion Pathogenic 587691 rs1569484164 GRCh37: MT:7638-7638
GRCh38: MT:7638-7638
25 MT-CO1 NC_012920.1(MT-CO1):m.6902del Deletion Pathogenic 590294 rs1569484122 GRCh37: MT:6900-6900
GRCh38: MT:6900-6900
26 MT-CO1 NC_012920.1(MT-CO1):m.5954del Deletion Pathogenic 590893 rs1569484042 GRCh37: MT:5954-5954
GRCh38: MT:5954-5954
27 NOTCH1 NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp) SNV Pathogenic 221999 rs774966208 GRCh37: 9:139417466-139417466
GRCh38: 9:136523014-136523014
28 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) SNV Pathogenic 9008 rs28936670 GRCh37: 5:172662014-172662014
GRCh38: 5:173235011-173235011
29 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic 13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
30 JAG1 NM_000214.3(JAG1):c.551G>A (p.Arg184His) SNV Pathogenic 7620 rs121918351 GRCh37: 20:10639259-10639259
GRCh38: 20:10658611-10658611
31 JAG1 NM_000214.3(JAG1):c.2118_2121CAGT[1] (p.Gln708fs) Microsatellite Pathogenic 177941 rs727504412 GRCh37: 20:10625893-10625896
GRCh38: 20:10645245-10645248
32 NKX2-5 NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) SNV Pathogenic 9011 rs104893902 GRCh37: 5:172659891-172659891
GRCh38: 5:173232888-173232888
33 JAG1 NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) Duplication Pathogenic 1032929 GRCh37: 20:10621806-10621807
GRCh38: 20:10641158-10641159
34 MT-CO1 NC_012920.1:m.6887_6888insGGG Insertion Likely pathogenic 590898 rs1569484120 GRCh37: MT:6887-6888
GRCh38: MT:6887-6888
35 TBX1 NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) SNV Likely pathogenic 973222 GRCh37: 22:19750829-19750829
GRCh38: 22:19763306-19763306
36 TBX1 NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) SNV Likely pathogenic 488618 rs1445910672 GRCh37: 22:19748778-19748778
GRCh38: 22:19761255-19761255
37 JAG1 NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) SNV Likely pathogenic 522881 rs769531968 GRCh37: 20:10624455-10624455
GRCh38: 20:10643807-10643807
38 ROBO1 NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) SNV Likely pathogenic 995977 GRCh37: 3:78763664-78763664
GRCh38: 3:78714514-78714514
39 ROBO1 NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) SNV Likely pathogenic 995981 GRCh37: 3:78987895-78987895
GRCh38: 3:78938745-78938745
40 EPHB4 NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) SNV Likely pathogenic 222000 rs1057515420 GRCh37: 7:100417496-100417496
GRCh38: 7:100819874-100819874
41 TPM1 NM_001018005.2(TPM1):c.114+2T>C SNV Likely pathogenic 370039 rs1114167357 GRCh37: 15:63335144-63335144
GRCh38: 15:63042945-63042945
42 GATA6 NM_005257.5(GATA6):c.233T>C (p.Leu78Pro) SNV Uncertain significance 540134 rs1253034411 GRCh37: 18:19751338-19751338
GRCh38: 18:22171377-22171377
43 GATA4 NM_002052.5(GATA4):c.263G>T (p.Gly88Val) SNV Uncertain significance 472776 rs980402710 GRCh37: 8:11566084-11566084
GRCh38: 8:11708575-11708575
44 IRX4 NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu) SNV Uncertain significance 523432 rs1175075312 GRCh37: 5:1878471-1878471
GRCh38: 5:1878357-1878357
45 CRELD1 NM_001077415.3(CRELD1):c.1049-376T>G SNV Uncertain significance 627519 rs73118372 GRCh37: 3:9985673-9985673
GRCh38: 3:9943989-9943989
46 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=) SNV Uncertain significance 931052 GRCh37: 8:106814548-106814548
GRCh38: 8:105802320-105802320
47 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs) Duplication Uncertain significance 931432 GRCh37: 8:106815578-106815579
GRCh38: 8:105803350-105803351
48 JAG1 NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) SNV Uncertain significance 536530 rs769242977 GRCh37: 20:10620412-10620412
GRCh38: 20:10639764-10639764
49 JAG1 NM_000214.3(JAG1):c.3256G>A (p.Val1086Met) SNV Uncertain significance 931055 GRCh37: 20:10620547-10620547
GRCh38: 20:10639899-10639899
50 JAG1 NM_000214.3(JAG1):c.1613C>T (p.Ala538Val) SNV Uncertain significance 931651 GRCh37: 20:10628715-10628715
GRCh38: 20:10648067-10648067

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

72 (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 KICS2 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 SPART Tetralogy of Fallot
19 76410 13 31086497 35813387 Deletion 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 Tetralogy of Fallot
24 105835 16 83066869 83082922 Deletion MEAK7 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 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 HDHD5 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 chromatin GO:0000785 9.7 ZFPM2 TBX1 NKX2-5 NIPBL GATA6 GATA5
2 receptor complex GO:0043235 9.26 RET NOTCH1 FLT4 EPHB4
3 respiratory chain complex IV GO:0045277 8.8 MT-CO3 MT-CO2 MT-CO1

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.24 ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL GATA6
2 multicellular organism development GO:0007275 10.15 TBX1 ROBO1 RET NOTCH1 NKX2-5 NIPBL
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.13 ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL JAG1
4 negative regulation of transcription, DNA-templated GO:0045892 10.09 ZFPM2 NOTCH1 NKX2-5 NIPBL GATA6
5 positive regulation of transcription, DNA-templated GO:0045893 10.01 ZFPM2 TBX1 RET NOTCH1 NKX2-5 GATA6
6 axon guidance GO:0007411 9.95 ROBO1 RET NOTCH1 EPHB4
7 blood coagulation GO:0007596 9.92 ZFPM2 GATA6 GATA5 GATA4
8 positive regulation of MAPK cascade GO:0043410 9.88 TBX1 RET FLT4
9 proton transmembrane transport GO:1902600 9.88 MT-CO3 MT-CO2 MT-CO1
10 angiogenesis GO:0001525 9.85 TBX1 NOTCH1 JAG1 GJA5 FLT4 EPHB4
11 cell fate commitment GO:0045165 9.84 NOTCH1 GATA6 GATA5 GATA4
12 positive regulation of kinase activity GO:0033674 9.82 RET FLT4 EPHB4
13 heart morphogenesis GO:0003007 9.81 TBX1 NKX2-5 NIPBL EPHB4
14 heart looping GO:0001947 9.8 NOTCH1 NKX2-5 GATA4
15 heart development GO:0007507 9.8 ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL GJA5
16 negative regulation of cell differentiation GO:0045596 9.79 TBX1 NOTCH1 JAG1
17 positive regulation of cardiac muscle cell proliferation GO:0060045 9.77 ZFPM2 NOTCH1 GATA6
18 outflow tract morphogenesis GO:0003151 9.76 TBX1 NOTCH1 NIPBL GJA5
19 cardiac muscle tissue development GO:0048738 9.74 ZFPM2 GATA6 GATA5
20 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.73 MT-CO3 MT-CO2 MT-CO1
21 cardiac muscle cell differentiation GO:0055007 9.72 NKX2-5 GATA6 GATA4
22 negative regulation of cardiac muscle hypertrophy GO:0010614 9.7 NOTCH1 GATA5
23 pharyngeal system development GO:0060037 9.7 TBX1 NKX2-5
24 respiratory electron transport chain GO:0022904 9.7 MT-CO3 MT-CO1
25 pulmonary valve morphogenesis GO:0003184 9.7 ROBO1 NOTCH1 JAG1
26 negative regulation of myotube differentiation GO:0010832 9.69 NOTCH1 NKX2-5
27 aorta morphogenesis GO:0035909 9.69 TBX1 JAG1
28 negative regulation of stem cell differentiation GO:2000737 9.68 NOTCH1 JAG1
29 cardiac septum morphogenesis GO:0060411 9.68 NOTCH1 JAG1
30 cardiac right ventricle morphogenesis GO:0003215 9.68 JAG1 GATA4
31 atrial septum morphogenesis GO:0060413 9.68 NKX2-5 GATA4
32 response to muramyl dipeptide GO:0032495 9.67 NOTCH1 JAG1
33 lymph vessel development GO:0001945 9.67 TBX1 FLT4
34 Notch signaling involved in heart development GO:0061314 9.67 NOTCH1 JAG1
35 cardiac muscle tissue morphogenesis GO:0055008 9.66 NOTCH1 NKX2-5
36 endocardial cushion development GO:0003197 9.66 NOTCH1 GATA4
37 embryonic viscerocranium morphogenesis GO:0048703 9.65 TBX1 NIPBL
38 cardiac ventricle morphogenesis GO:0003208 9.64 NOTCH1 GATA4
39 coronary artery morphogenesis GO:0060982 9.63 TBX1 NOTCH1
40 ear morphogenesis GO:0042471 9.61 TBX1 NIPBL
41 positive regulation of Notch signaling pathway involved in heart induction GO:0035481 9.61 ROBO1 GATA5
42 intestinal epithelial cell differentiation GO:0060575 9.61 GATA6 GATA5 GATA4
43 distal tubule development GO:0072017 9.59 NOTCH1 JAG1
44 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.58 NOTCH1 JAG1
45 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.58 ZFPM2 NKX2-5
46 ventricular septum morphogenesis GO:0060412 9.46 ZFPM2 ROBO1 NOTCH1 NKX2-5
47 positive regulation of cardioblast differentiation GO:0051891 9.43 NKX2-5 GATA6 GATA4
48 outflow tract septum morphogenesis GO:0003148 9.35 ZFPM2 TBX1 ROBO1 NKX2-5 GATA6
49 aortic valve morphogenesis GO:0003180 9.1 ROBO1 NOTCH1 NKX2-5 JAG1 GATA5 GATA4

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.77 TBX1 NKX2-5 GATA6 GATA5 GATA4
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 NKX2-5 GATA6 GATA5 GATA4
3 sequence-specific DNA binding GO:0043565 9.55 TBX1 NKX2-5 GATA6 GATA5 GATA4
4 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.32 NKX2-5 GATA4
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.13 RET FLT4 EPHB4
6 cytochrome-c oxidase activity GO:0004129 8.8 MT-CO3 MT-CO2 MT-CO1

Sources for Tetralogy of Fallot

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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