TOF
MCID: TTR001
MIFTS: 70

Tetralogy of Fallot (TOF)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Tetralogy of Fallot

MalaCards integrated aliases for Tetralogy of Fallot:

Name: Tetralogy of Fallot 57 11 19 58 73 28 12 5 43 14 63 75 31 33
Fallot Tetralogy 19 75 33
Tof 57 19 73
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 11 33
Interventricular Septal Defect with Dextroposition of Aorta, Pulmonary Stenosis and Hypertrophy of Right Ventricle 33
Pulmonary Atresia with Ventricular Septal Defect and Systemic-to-Pulmonary Collateral Arteries [fallot Type] 33
Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, and Right Ventricular Hypertrophy 33
Ventricular Septal Defect with Obstructed Right Ventricular Outflow 33
Pulmonary Atresia with Ventricular Septal Defect [fallot Type] 33
Pulmonary Atresia, Ventricular Septal Defect and Mapcas 33
Interventricular Septal Defect, in Tetralogy of Fallot 33
Tof - [tetralogy of Fallot] 33
Tetrad of Fallot 33
Fallot Disease 33
Fallot Complex 33
Fallot Tetrad 33

Characteristics:


Inheritance:

Autosomal dominant,Multigenic/multifactorial 58 , Autosomal dominant 57

Prevelance:

1-5/10000 (Worldwide, Europe, Austria, Belgium, Croatia, Denmark, France, Germany, Hungary, Ireland, Italy, Malta, Netherlands, Norway, Poland, Portugal, Spain, Switzerland, United Kingdom, Ukraine, United States, China) 6-9/10000 (Taiwan, Province of China) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:6419
OMIM® 57 187500
ICD9CM 34 745.2
MeSH 43 D013771
NCIt 49 C84505
SNOMED-CT 68 156913009
ICD10 31 Q21.3
MESH via Orphanet 44 D013771
ICD10 via Orphanet 32 Q21.3
UMLS via Orphanet 72 C0039685
Orphanet 58 ORPHA3303
MedGen 40 C0039685
UMLS 71 C0039685

Summaries for Tetralogy of Fallot

GARD: 19 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.

MalaCards based summary: Tetralogy of Fallot, also known as fallot tetralogy, is related to congenital heart defects, multiple types, 4 and conotruncal heart malformations. An important gene associated with Tetralogy of Fallot is JAG1 (Jagged Canonical Notch Ligand 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and TP53 Regulates Metabolic Genes. The drugs Eplerenone and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skin, and related phenotypes are abnormal nasal morphology and intrauterine growth retardation

PubMed Health : 63 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.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Wikipedia: 75 Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect... 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 1408)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, multiple types, 4 33.4 GATA6 GATA4
2 conotruncal heart malformations 33.2 ZFPM2 TBX1 NKX2-5 GDF1 GATA6
3 ventricular septal defect 33.2 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
4 heart septal defect 33.2 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
5 congenital heart defects, multiple types, 6 32.8 GDF1 CERS1
6 atrioventricular septal defect 32.6 ZFPM2 TBX1 NOTCH1 NKX2-5 GJA5 GDF1
7 atrial heart septal defect 32.5 ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL JAG1
8 patent ductus arteriosus 1 32.5 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GATA6
9 double outlet right ventricle 32.4 ZFPM2-AS1 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1
10 chromosome 22q11.2 deletion syndrome, distal 32.2 TBX1 NKX2-5 GJA5 GATA4
11 transposition of the great arteries, dextro-looped 32.2 TBX1 NKX2-5 GDF1 GATA4 CERS1
12 heart disease 32.1 TBX1 ROBO1 NOTCH1 NKX2-5 JAG1 GJA5
13 pulmonary valve stenosis 32.1 NKX2-5 JAG1 GATA4
14 atrioventricular block 32.1 NKX2-5 GJA5 GATA4
15 aortic valve disease 1 32.0 TBX1 NOTCH1 NKX2-5 KDR JAG1 GATA6
16 aortic valve disease 2 31.9 NOTCH1 NKX2-5 GATA4
17 ebstein anomaly 31.8 ZFPM2 NKX2-5 GJA5 GATA4
18 patent foramen ovale 31.8 TBX1 NKX2-5 JAG1 GJA5 GATA6 GATA5
19 hypertrophic cardiomyopathy 31.8 NKX2-5 MT-CO3 MT-CO2 MT-CO1 GJA5 GATA4
20 velocardiofacial syndrome 31.5 TBX1 NKX2-5 GATA4
21 diaphragmatic hernia, congenital 31.5 ZFPM2 ROBO1 NIPBL GATA6 GATA4
22 tricuspid atresia 31.5 ZFPM2 TBX1 NKX2-5 GATA6 GATA4
23 hemangioma 31.5 RET NOTCH1 KDR JAG1 FLT4
24 patau syndrome 31.4 TBX1 NKX2-5 GATA4
25 aortic aneurysm, familial thoracic 1 31.4 NOTCH1 NKX2-5 JAG1 GATA6 GATA5 GATA4
26 hypoplastic left heart syndrome 31.4 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
27 noonan syndrome 1 31.4 TBX1 NOTCH1 NKX2-5 NIPBL JAG1 GJA5
28 right atrial isomerism 31.4 NKX2-5 GJA5 GDF1 CERS1
29 pulmonary valve disease 31.4 NKX2-5 GATA6 GATA4
30 total anomalous pulmonary venous return 1 31.4 NKX2-5 GATA4
31 left ventricular noncompaction 31.3 NOTCH1 NKX2-5 JAG1 GJA5 GATA4
32 holt-oram syndrome 31.3 TBX1 NKX2-5 GJA5 GATA4
33 lipoprotein quantitative trait locus 31.3 NOTCH1 NKX2-5 KDR GJA5 GATA4
34 tricuspid valve disease 31.1 NKX2-5 GATA6 GATA4
35 wolff-parkinson-white syndrome 31.1 NKX2-5 JAG1 GJA5
36 diaphragmatic hernia 3 31.0 ZFPM2-AS1 ZFPM2
37 arteriovenous malformation 31.0 NOTCH1 KDR JAG1
38 46,xy sex reversal 9 30.9 ZFPM2-AS1 ZFPM2 GATA4
39 mitochondrial myopathy, infantile, transient 30.2 MT-CO3 MT-CO2 MT-CO1
40 mitochondrial complex iv deficiency, nuclear type 1 30.1 MT-CO3 MT-CO2 MT-CO1
41 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 11.6
42 tetralogy of fallot and glaucoma 11.6
43 hypertelorism and tetralogy of fallot 11.6
44 pulmonary atresia with ventricular septal defect 11.4
45 pulmonary valve insufficiency 11.4
46 fallot complex with severe mental and growth retardation 11.3
47 congenital heart defects, multiple types, 7 11.3
48 digeorge syndrome 11.3
49 ritscher-schinzel syndrome 1 11.3
50 porencephaly, cerebellar hypoplasia, and internal malformations 11.3

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Tetralogy of Fallot:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 10.41 FLT4 GATA4 GATA6 GDF1 GJA5 JAG1
2 homeostasis/metabolism MP:0005376 10.39 CERS1 FLT4 GATA4 GATA5 GATA6 GJA5
3 muscle MP:0005369 10.38 FLT4 GATA4 GATA5 GATA6 GJA5 JAG1
4 growth/size/body region MP:0005378 10.34 CERS1 FLT4 GATA4 GATA6 GDF1 JAG1
5 nervous system MP:0003631 10.29 CERS1 GATA4 GDF1 JAG1 KDR NIPBL
6 cellular MP:0005384 10.24 CERS1 GATA4 GATA5 GATA6 GDF1 JAG1
7 endocrine/exocrine gland MP:0005379 10.22 GATA4 GATA5 GDF1 GJA5 JAG1 NKX2-5
8 cardiovascular system MP:0005385 10.22 FLT4 GATA4 GATA5 GATA6 GDF1 GJA5
9 embryo MP:0005380 10.2 FLT4 GATA4 GATA6 GDF1 JAG1 KDR
10 digestive/alimentary MP:0005381 10.17 FLT4 GATA4 GATA5 GDF1 GJA5 JAG1
11 no phenotypic analysis MP:0003012 10.16 FLT4 GATA4 GJA5 JAG1 KDR NKX2-5
12 liver/biliary system MP:0005370 10.13 FLT4 GATA4 GATA6 GDF1 JAG1 KDR
13 immune system MP:0005387 10.03 CERS1 FLT4 GATA5 GDF1 GJA5 KDR
14 craniofacial MP:0005382 10.01 GDF1 JAG1 KDR NIPBL NKX2-5 NOTCH1
15 respiratory system MP:0005388 9.9 GATA4 GATA6 GDF1 GJA5 KDR NKX2-5
16 mortality/aging MP:0010768 9.86 CERS1 FLT4 GATA4 GATA5 GATA6 GDF1
17 integument MP:0010771 9.32 FLT4 GATA4 GATA5 JAG1 KDR NKX2-5

Drugs & Therapeutics for Tetralogy of Fallot

PubMed Health treatment related to Tetralogy of Fallot: 63

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 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 443872
2 Antihypertensive Agents Phase 4
3 diuretics Phase 4
4 Hormones Phase 4
5 Hormone Antagonists Phase 4
6 Diuretics, Potassium Sparing Phase 4
7 Mineralocorticoids Phase 4
8 Mineralocorticoid Receptor Antagonists Phase 4
9
Dexmedetomidine Approved, Experimental, Vet_approved Phase 2, Phase 3 86347-14-0, 113775-47-6 68602 5311068
10
Dobutamine Approved Phase 3 34368-04-2 36811
11 Adrenergic alpha-Agonists Phase 2, Phase 3
12 Hypnotics and Sedatives Phase 2, Phase 3
13 Analgesics, Non-Narcotic Phase 2, Phase 3
14 Analgesics Phase 2, Phase 3
15 Neurotransmitter Agents Phase 3
16 Adrenergic Agonists Phase 3
17 Adrenergic Agents Phase 3
18 Cardiotonic Agents Phase 3
19 Adrenergic beta-Agonists Phase 3
20 Sympathomimetics Phase 3
21 Protective Agents Phase 3
22
Losartan Approved Phase 2 114798-26-4 3961
23
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
24
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
25
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
26
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
27
Angiotensinogen Phase 2 16133225
28 Angiotensin Receptor Antagonists Phase 2
29 Angiotensin II Type 1 Receptor Blockers Phase 2
30 Giapreza Phase 2
31 Calcium, Dietary Phase 2
32 Anesthetics, Intravenous Phase 2
33 Anesthetics, General Phase 2
34 Anticoagulants Phase 2
35 Analgesics, Opioid Phase 2
36 Citrate Phase 2
37 Narcotics Phase 2
38 Chelating Agents Phase 2
39 Pharmaceutical Solutions Phase 2
40
Calcium Nutraceutical Phase 2 7440-70-2 271
41
Propranolol Approved, Investigational Phase 1 318-98-9, 525-66-6 62882 4946
42 Anesthetics Phase 1
43 Anti-Arrhythmia Agents Phase 1
44 Adrenergic beta-Antagonists Phase 1
45 Adrenergic Antagonists Phase 1
46 Vasodilator Agents Phase 1
47
Parathyroid hormone Approved, Investigational 9002-64-6
48
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
49
Tannic acid Approved 1401-55-4 16129878 16129778
50
Tryptophan Approved, Nutraceutical, Withdrawn Early Phase 1 73-22-3 6305

Interventional clinical trials:

(show top 50) (show all 70)
# 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 The Role of Dexmedetomidine as Myocardial Protector in Pediatric Cardiac Surgery Total Correction of Tetralogy of Fallot Recruiting NCT05579964 Phase 2, Phase 3 Dexmedetomidine Hcl 100 Mcg/mL Inj;Placebo
5 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
6 Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone System Unknown status NCT02010905 Phase 2 Losartan;Placebo
7 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
8 Contrast Enhanced Three Dimensional Echocardiographic Quantification of Right Ventricular Volumes in Repaired Congenital Heart Disease Recruiting NCT05186415 Phase 1, Phase 2 Sulfur Hexafluoride Lipid Type A Microspheres 25 MG Injection Powder for Suspension [LUMASON]
9 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Active, not recruiting NCT04017975 Phase 2 Fluorescite
10 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
11 The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
12 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
13 Mechanistic Clinical Trial of Beta-Blocker Administration For Reactivating Cardiomyocyte Division In Tetrology of Fallot Not yet recruiting NCT04713657 Phase 1 Propranolol Hydrochloride;Placebo
14 Cardiac 4D MR Velocity Mapping in Repaired Tetralogy of Fallot Patients: Evaluation of Pulmonary Regurgitant Fraction and Ventricular Volume Unknown status NCT02980614
15 Physical Capacity and Activity in Children With Congenital Heart Disease in Chile Unknown status NCT03275844
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 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 Unknown status NCT04359940
18 Application of Biocardiac Model in Total Correction of Tetralogy of Fallot Unknown status NCT00155428
19 Imaging by 4 DFlow in Patients With Tetralogy of Fallot Unknown status NCT03542968
20 Reoxygenation Cardiopulmonary Bypass for Surgical Repair of Pediatric Cyanotic CHD Unknown status NCT03568357
21 Comparison of Right Ventricular Outflow Tract Gradient Under Anaesthesia With Post-operative Gradient in Patients Undergoing Tetralogy of Fallot Repair Unknown status NCT03234582
22 Haemodynamics and Function of the Atria in Patients With Congenital Heart Defects - Pilot Study by Cardiovascular Magnetic Resonance Unknown status NCT02161471
23 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot. Unknown status NCT02186691
24 Evaluation of Right Ventricular Contractility Reserve Function During Dobutamine Stress in Patients Following Surgical Repair of Tetralogy of Fallot Completed NCT00557934
25 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
26 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
27 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)
28 Tissue Doppler Imaging - A Promising Technique To Assess Myocardial Function In Adult Fallot Patients Completed NCT03835494
29 Effects of Changes in Fluid Status on Right Ventricular Volumes and Function Completed NCT02967315
30 Quantification of the Myocardial Microcirculation by Contrast Echocardiography In Adult Patients With Congenital Heart Disease Completed NCT00412685
31 Influence of Different Types of Exercise Training on Selected Cardiovascular Parameters in Adult Individuals With Corrected Tetralogy of Fallot Completed NCT02643810
32 Retrospective Review of Anesthetic Considerations for Pulmonary Artery Rehabilitation Completed NCT02586740
33 MRI Assessment of Right Ventricular Function in Patients After Repair of Tetralogy of Fallot Completed NCT00722826
34 Randomized Trial of Pulmonary Valve Replacement in Tetralogy of Fallot Completed NCT00112320
35 Early Revalvulation After Fallot Repair Improves Clinical Outcome Completed NCT02534792
36 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
37 Non-invasive Imaging and Exercise Tolerance Tests in Post-repair Tetralogy of Fallot - Intervention and Course in Patients Over 8 Years Old Completed NCT00266188
38 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
39 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
40 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
41 Native Outflow Tract Transcatheter Pulmonary Valve Research Clinical Study Completed NCT01762124
42 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
43 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
44 Impact of NAVA Ventilation on Brain Oxygenation and Perfusion in Children With Congenital Heart Disease Recruiting NCT04581668
45 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
46 The International Stress Echo Study in Ischemic and Non-ischemic Heart Disease Recruiting NCT03049995
47 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
48 French National Registry of Patients With Tetralogy of Fallot and Implantable Cardioverter Defibrillator Recruiting NCT03837574
49 Prospective Evaluation of Programmed Ventricular Stimulation Before Pulmonary Valve Replacement in Patients With Tetralogy of Fallot Recruiting NCT04205461
50 Multicenter Italian Registry From the Italian Pediatric Cardiology Society (SICP) Working Group (WG) on CMR/CT for the Repaired Tetralogy of Fallot Recruiting NCT05288894

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 28 GATA4 GATA6 JAG1 NKX2-5 TBX1 ZFPM2

Anatomical Context for Tetralogy of Fallot

Organs/tissues related to Tetralogy of Fallot:

MalaCards : Heart, Brain, Skin, Lung, Bone Marrow, Endothelial, Trachea
ODiseA: Heart

Publications for Tetralogy of Fallot

Articles related to Tetralogy of Fallot:

(show top 50) (show all 9707)
# Title Authors PMID Year
1
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 62 57 5
20807224 2011
2
Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. 62 57 5
21110066 2010
3
Identification of GATA6 sequence variants in patients with congenital heart defects. 62 57 5
20581743 2010
4
A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 62 57 5
20631719 2010
5
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 62 57 5
19948535 2010
6
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. 62 57 5
19597493 2009
7
GATA4 mutations in 486 Chinese patients with congenital heart disease. 62 57 5
18672102 2008
8
GATA4 sequence variants in patients with congenital heart disease. 62 57 5
18055909 2007
9
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 62 57 5
14517948 2003
10
NKX2.5 mutations in patients with tetralogy of fallot. 62 57 5
11714651 2001
11
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. 62 57 5
11152664 2001
12
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 62 57 5
10587520 1999
13
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. 62 5
28592524 2017
14
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 62 5
20456451 2010
15
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. 62 5
20437614 2010
16
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 62 5
17924340 2007
17
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. 62 57
15937089 2005
18
NKX2.5 mutations in patients with congenital heart disease. 62 5
14607454 2003
19
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. 62 5
12649809 2003
20
Chromosome abnormalities in congenital heart disease. 62 57
9188669 1997
21
Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. 62 57
9132487 1997
22
Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome. 62 57
8923932 1996
23
Tetralogy of Fallot in three siblings: a familial study and review of the literature. 62 57
1425789 1992
24
Tetralogy of Fallot in three sibs. 62 57
2260602 1990
25
An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. 62 57
4050848 1985
26
Tetralogy of Fallot with pulmonary atresia in siblings. 62 57
4003436 1985
27
Tetralogy of Fallot with right aortic arch in three successive generations. 62 57
4834778 1974
28
Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 5
28359939 2017
29
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 5
27760138 2016
30
Analysis of protein-coding genetic variation in 60,706 humans. 5
27535533 2016
31
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 5
24702427 2015
32
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 5
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. 5
17643447 2007
35
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 5
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. 5
15917268 2005
37
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 5
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
Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study. 62
36356662 2023
41
Detection rates of a national fetal anomaly screening programme: A national cohort study. 62
36054171 2023
42
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot. 62
36162527 2023
43
An exceptional survival in an unoperated tetralogy of Fallot in a 66-year-old man: A case report. 62
36281282 2022
44
Routine Perioperative Esmolol After Infant Tetralogy of Fallot Repair: Single-Center Retrospective Study of Hemodynamics. 62
36200768 2022
45
The effect of Del Nido versus custodiol cardioplegia on clinical outcomes and troponin-I changes among pediatrics with tetralogy of fallot undergoing cardiopulmonary bypass. 62
36464918 2022
46
Speckle-Tracking Analysis in Fetuses With Tetralogy of Fallot: Evaluation of Right and Left Ventricular Contractility and Left Ventricular Function. 62
35397130 2022
47
Anemia after Pediatric Congenital Heart Surgery. 62
36388078 2022
48
Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. 62
35995687 2022
49
A rare case of isolated single coronary artery, Lipton's type LIIB diagnosed by computed tomography coronary angiography. 62
36204404 2022
50
Ventricular Tachycardia Ablation in Adult Congenital Heart Disease. 62
36396188 2022

Variations for Tetralogy of Fallot

ClinVar genetic disease variations for Tetralogy of Fallot:

5 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOTCH1 NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp) SNV Pathogenic
221999 rs774966208 GRCh37: 9:139417466-139417466
GRCh38: 9:136523014-136523014
2 overlap with 22 genes GRCh37/hg19 8p23.1(chr8:8403375-11805960) CN LOSS Pathogenic
625634 GRCh37: 8:8403375-11805960
GRCh38:
3 overlap with 39 genes GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) CN LOSS Pathogenic
625669 GRCh37: 8:194617-7787444
GRCh38:
4 JAG1 NM_000214.3(JAG1):c.228del (p.Val77fs) DEL Pathogenic
930690 rs2067506937 GRCh37: 20:10653508-10653508
GRCh38: 20:10672860-10672860
5 GATA6 NM_005257.6(GATA6):c.23G>A (p.Trp8Ter) SNV Pathogenic
977802 rs2033033528 GRCh37: 18:19751128-19751128
GRCh38: 18:22171167-22171167
6 NKX2-5 NM_004387.4(NKX2-5):c.439del (p.Gln147fs) DEL Pathogenic
982415 rs1761360431 GRCh37: 5:172660108-172660108
GRCh38: 5:173233105-173233105
7 JAG1 NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) DUP Pathogenic
1032929 rs2067268275 GRCh37: 20:10621806-10621807
GRCh38: 20:10641158-10641159
8 MT-CO2 NC_012920.1(MT-CO2):m.7639del DEL Pathogenic
587691 rs1569484164 GRCh37: MT:7638-7638
GRCh38: MT:7638-7638
9 MT-CO1 NC_012920.1(MT-CO1):m.6902del DEL Pathogenic
590294 rs1569484122 GRCh37: MT:6900-6900
GRCh38: MT:6900-6900
10 MT-CO1 NC_012920.1(MT-CO1):m.5954del DEL Pathogenic
590893 rs1569484042 GRCh37: MT:5954-5954
GRCh38: MT:5954-5954
11 MT-CO1 NC_012920.1(MT-CO1):m.6941del DEL Pathogenic
587690 rs1569484126 GRCh37: MT:6939-6939
GRCh38: MT:6939-6939
12 MT-CO1 NC_012920.1(MT-CO1):m.6927del DEL Pathogenic
590295 rs1569484124 GRCh37: MT:6925-6925
GRCh38: MT:6925-6925
13 MT-CO3 NC_012920.1:m.9429_9430insCCC INSERT Pathogenic
599026 rs1569484299 GRCh37: MT:9429-9430
GRCh38: MT:9429-9430
14 MT-CO3 NC_012920.1:m.9273_9274insATC INSERT Pathogenic
599028 rs1569484288 GRCh37: MT:9273-9274
GRCh38: MT:9273-9274
15 GATA4 NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) SNV Pathogenic
30099 rs387906769 GRCh37: 8:11566308-11566308
GRCh38: 8:11708799-11708799
16 GATA6 NM_005257.6(GATA6):c.592C>G (p.Leu198Val) SNV Pathogenic
30208 rs387906814 GRCh37: 18:19751697-19751697
GRCh38: 18:22171736-22171736
17 GATA6 NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) SNV Pathogenic
30210 rs387906816 GRCh37: 18:19751656-19751656
GRCh38: 18:22171695-22171695
18 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) SNV Pathogenic
39518 rs187043152 GRCh37: 8:106813942-106813942
GRCh38: 8:105801714-105801714
19 NIPBL NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) DEL Pathogenic
523556 rs1554034812 GRCh37: 5:37059040-37059040
GRCh38: 5:37058938-37058938
20 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) SNV Pathogenic
6127 rs28374544 GRCh37: 8:106814279-106814279
GRCh38: 8:105802051-105802051
21 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Pathogenic
6128 rs121908601 GRCh37: 8:106431420-106431420
GRCh38: 8:105419192-105419192
22 JAG1 NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) SNV Pathogenic
7624 rs28939668 GRCh37: 20:10633181-10633181
GRCh38: 20:10652533-10652533
23 MT-CO3 NC_012920.1:m.9441_9442insTTT INSERT Pathogenic
599027 rs1569484301 GRCh37: MT:9441-9442
GRCh38: MT:9441-9442
24 JAG1 NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) MICROSAT Pathogenic
177941 rs727504412 GRCh37: 20:10625893-10625896
GRCh38: 20:10645245-10645248
25 GATA4 NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) SNV Pathogenic
30103 rs115099192 GRCh37: 8:11615875-11615875
GRCh38: 8:11758366-11758366
26 CERS1, GDF1 NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) SNV Pathogenic
6749 rs121434424 GRCh37: 19:18980040-18980040
GRCh38: 19:18869231-18869231
27 JAG1 NM_000214.3(JAG1):c.551G>A (p.Arg184His) SNV Pathogenic
7620 rs121918351 GRCh37: 20:10639259-10639259
GRCh38: 20:10658611-10658611
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 NKX2-5 NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) SNV Pathogenic
9011 rs104893902 GRCh37: 5:172659891-172659891
GRCh38: 5:173232888-173232888
30 GATA4 NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) MICROSAT Pathogenic
30104 rs1182566703 GRCh37: 8:11566175-11566176
GRCh38: 8:11708666-11708667
31 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic
13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
32 NKX2-5 NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) SNV Pathogenic
9010 rs104893905 GRCh37: 5:172659901-172659901
GRCh38: 5:173232898-173232898
33 TBX1 NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) DUP Pathogenic
504072 rs746335599 GRCh37: 22:19754288-19754289
GRCh38: 22:19766765-19766766
34 TPM1 NM_001018005.2(TPM1):c.114+2T>C SNV Likely Pathogenic
370039 rs1114167357 GRCh37: 15:63335144-63335144
GRCh38: 15:63042945-63042945
35 ROBO1 NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) SNV Likely Pathogenic
995977 rs1431830142 GRCh37: 3:78763664-78763664
GRCh38: 3:78714514-78714514
36 JAG1 NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) SNV Likely Pathogenic
522881 rs769531968 GRCh37: 20:10624455-10624455
GRCh38: 20:10643807-10643807
37 TBX1 NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) SNV Likely Pathogenic
488618 rs1445910672 GRCh37: 22:19748778-19748778
GRCh38: 22:19761255-19761255
38 MT-CO1 NC_012920.1:m.6887_6888insGGG INSERT Likely Pathogenic
590898 rs1569484120 GRCh37: MT:6887-6888
GRCh38: MT:6887-6888
39 ROBO1 GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1 CN LOSS Likely Pathogenic
1098921 GRCh37: 3:78653578-79071345
GRCh38:
40 ROBO1 NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) SNV Likely Pathogenic
995981 rs1017845770 GRCh37: 3:78987895-78987895
GRCh38: 3:78938745-78938745
41 EPHB4 NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) SNV Likely Pathogenic
222000 rs1057515420 GRCh37: 7:100417496-100417496
GRCh38: 7:100819874-100819874
42 TBX1 NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) SNV Likely Pathogenic
973222 rs1936727304 GRCh37: 22:19750829-19750829
GRCh38: 22:19763306-19763306
43 TBX1 NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly) SNV Uncertain Significance
992543 rs1452987245 GRCh37: 22:19753948-19753948
GRCh38: 22:19766425-19766425
44 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr) SNV Uncertain Significance
1030220 rs1290587796 GRCh37: 8:106813356-106813356
GRCh38: 8:105801128-105801128
45 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His) SNV Uncertain Significance
1030221 rs750762877 GRCh37: 8:106814511-106814511
GRCh38: 8:105802283-105802283
46 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=) SNV Uncertain Significance
931052 rs1814052830 GRCh37: 8:106814548-106814548
GRCh38: 8:105802320-105802320
47 JAG1 NM_000214.3(JAG1):c.3256G>A (p.Val1086Met) SNV Uncertain Significance
931055 rs1334024757 GRCh37: 20:10620547-10620547
GRCh38: 20:10639899-10639899
48 ZFPM2-AS1, ZFPM2 NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs) DUP Uncertain Significance
931432 rs1814103683 GRCh37: 8:106815578-106815579
GRCh38: 8:105803350-105803351
49 JAG1 NM_000214.3(JAG1):c.1613C>T (p.Ala538Val) SNV Uncertain Significance
931651 rs2067321488 GRCh37: 20:10628715-10628715
GRCh38: 20:10648067-10648067
50 JAG1 NM_000214.3(JAG1):c.289G>C (p.Gly97Arg) SNV Uncertain Significance
931652 rs2067506326 GRCh37: 20:10653447-10653447
GRCh38: 20:10672799-10672799

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:

6 (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

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 mitochondrial respiratory chain complex IV GO:0005751 9.43 MT-CO3 MT-CO2 MT-CO1
2 respiratory chain complex IV GO:0045277 9.1 MT-CO3 MT-CO2 MT-CO1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.6 ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL JAG1
2 positive regulation of DNA-templated transcription GO:0045893 10.44 GATA4 GATA5 GATA6 NKX2-5 NOTCH1 RET
3 cell differentiation GO:0030154 10.32 GATA4 GATA5 GATA6 KDR NKX2-5 NOTCH1
4 angiogenesis GO:0001525 10.3 FLT4 GJA5 JAG1 KDR NOTCH1 TBX1
5 positive regulation of MAPK cascade GO:0043410 10.28 TBX1 RET KDR FLT4
6 cell fate commitment GO:0045165 10.18 KDR GATA6 GATA5 GATA4
7 heart looping GO:0001947 10.17 NOTCH1 NKX2-5 GATA4
8 vasculogenesis GO:0001570 10.17 ZFPM2 NKX2-5 KDR
9 epithelial cell proliferation GO:0050673 10.16 NOTCH1 NKX2-5 KDR
10 heart morphogenesis GO:0003007 10.15 TBX1 NKX2-5 NIPBL
11 cellular respiration GO:0045333 10.14 MT-CO3 MT-CO2 MT-CO1
12 positive regulation of epithelial cell proliferation GO:0050679 10.13 TBX1 NOTCH1 NKX2-5 KDR
13 cellular response to vascular endothelial growth factor stimulus GO:0035924 10.12 FLT4 KDR NOTCH1
14 positive regulation of cardiac muscle cell proliferation GO:0060045 10.1 ZFPM2 NOTCH1 GATA6
15 positive regulation of BMP signaling pathway GO:0030513 10.1 NOTCH1 KDR GATA6 GATA4
16 cardiac muscle cell proliferation GO:0060038 10.09 NOTCH1 NKX2-5 GATA6
17 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 10.09 MT-CO3 MT-CO2 MT-CO1
18 ventricular septum morphogenesis GO:0060412 10.08 NKX2-5 NOTCH1 ROBO1 ZFPM2
19 pulmonary valve morphogenesis GO:0003184 10.04 ROBO1 NOTCH1 JAG1
20 lymph vessel development GO:0001945 10.01 TBX1 KDR FLT4
21 cardiac muscle cell differentiation GO:0055007 10 NKX2-5 GATA6 GATA4
22 intestinal epithelial cell differentiation GO:0060575 10 GATA6 GATA5 GATA4
23 heart development GO:0007507 10 GATA4 GATA5 GJA5 NIPBL NKX2-5 NOTCH1
24 coronary artery morphogenesis GO:0060982 9.99 TBX1 NOTCH1
25 neuroendocrine cell differentiation GO:0061101 9.98 NOTCH1 JAG1
26 endothelium development GO:0003158 9.98 GJA5 KDR
27 anatomical structure morphogenesis GO:0009653 9.97 ZFPM2 GATA6 GATA5 GATA4
28 outflow tract morphogenesis GO:0003151 9.97 TBX1 NOTCH1 NKX2-5 NIPBL GJA5
29 ear morphogenesis GO:0042471 9.96 TBX1 NIPBL
30 endocardium development GO:0003157 9.96 NOTCH1 KDR
31 inhibition of neuroepithelial cell differentiation GO:0002085 9.96 NOTCH1 JAG1
32 positive regulation of Notch signaling pathway involved in heart induction GO:0035481 9.95 ROBO1 GATA5
33 distal tubule development GO:0072017 9.94 NOTCH1 JAG1
34 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.93 NOTCH1 JAG1
35 positive regulation of cardioblast differentiation GO:0051891 9.93 NKX2-5 GATA6 GATA4
36 cardiac ventricle morphogenesis GO:0003208 9.91 NOTCH1 NKX2-5 GATA4
37 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.9 ZFPM2 NKX2-5
38 outflow tract septum morphogenesis GO:0003148 9.85 ZFPM2 TBX1 ROBO1 NKX2-5 GATA6
39 multicellular organism development GO:0007275 9.8 RET NOTCH1 KDR JAG1 FLT4
40 cardiac muscle tissue development GO:0048738 9.77 ZFPM2 NKX2-5 GATA6 GATA5
41 animal organ development GO:0048513 9.73 ZFPM2 JAG1 GATA6 GATA4
42 system development GO:0048731 9.72 ZFPM2 GATA6 GATA4
43 atrioventricular node development GO:0003162 9.56 NOTCH1 NKX2-5 GATA6 GATA4
44 aortic valve morphogenesis GO:0003180 9.4 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 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.73 RET KDR FLT4
2 cis-regulatory region sequence-specific DNA binding GO:0000987 9.5 GATA6 GATA5 GATA4
3 vascular endothelial growth factor receptor activity GO:0005021 9.46 KDR FLT4
4 NFAT protein binding GO:0051525 9.26 GATA6 GATA4
5 cytochrome-c oxidase activity GO:0004129 9.1 MT-CO3 MT-CO2 MT-CO1

Sources for Tetralogy of Fallot

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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