MCID: TTR001
MIFTS: 69

Tetralogy of Fallot

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Tetralogy of Fallot

MalaCards integrated aliases for Tetralogy of Fallot:

Name: Tetralogy of Fallot 54 12 50 24 56 71 29 13 42 14
Tof 50 24 71
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 12
Fallot Tetralogy 50

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant


HPO:

32
tetralogy of fallot:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 187500
Disease Ontology 12 DOID:6419
ICD10 33 Q21.3
ICD9CM 35 745.2
MeSH 42 D013771
NCIt 47 C84505
Orphanet 56 ORPHA3303
MESH via Orphanet 43 D013771
UMLS via Orphanet 70 C0039685
ICD10 via Orphanet 34 Q21.3
MedGen 40 C0039685
UMLS 69 C0039685

Summaries for Tetralogy of Fallot

NIH Rare Diseases : 50 tetralogy of fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). tetralogy of fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). the cause of this condition is unknown. treatment involves surgery to repair the heart defects. sometimes more than one surgery is needed.  last updated: 3/15/2012

MalaCards based summary : Tetralogy of Fallot, also known as tof, is related to adams-oliver syndrome 5 and ectodermal dysplasia, and has symptoms including proptosis, intrauterine growth retardation and cryptorchidism. An important gene associated with Tetralogy of Fallot is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. The drugs Eplerenone and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Tetralogy of Fallot (TOF) is a congenital heart defect that is present at birth. Symptoms include... more...

Description from OMIM: 187500

Related Diseases for Tetralogy of Fallot

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

(show top 50) (show all 214)
id Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 5 31.8 NKX2-6 NOTCH1 NPPB
2 ectodermal dysplasia 30.8 GATA4 GATA5 GJA1 NKX2-5 NPPB TBX5
3 tetralogy of fallot and glaucoma 12.1
4 complete atrioventricular canal-tetralogy of fallot syndrome 12.1
5 hypertelorism and tetralogy of fallot 12.1
6 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 12.1
7 duodenal atresia tetralogy of fallot 12.1
8 cor triatriatum 11.3
9 pulmonary atresia with ventricular septal defect 11.3
10 digeorge syndrome 11.3
11 ritscher-schinzel syndrome 1 11.1
12 inferior vena cava interruption 11.0 GATA4 GATA6
13 chondromyxoid fibroma 11.0 GATA5 NKX2-5 NOTCH1
14 pasli disease 11.0 GATA4 GATA6
15 second-degree atrioventricular block 11.0 GATA4 NKX2-5 NPPB TBX5
16 cardiomyopathy, hypertrophic 6 11.0 JAG1 NKX2-5 NPPB
17 ventricular septal defect 3 11.0
18 ritscher-schinzel syndrome 11.0
19 ventricular septal defect 1 11.0
20 maternal hyperphenylalaninemia 11.0
21 conotruncal heart malformations 11.0
22 chaotic atrial tachycardia 11.0
23 phenobarbital antenatal exposure 11.0
24 fallot complex with severe mental and growth retardation 11.0
25 structural heart defects and renal anomalies syndrome 11.0
26 adams-oliver syndrome 6 11.0
27 pancreatic agenesis and congenital heart defects 11.0
28 adams-oliver syndrome 1 11.0
29 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 11.0
30 joubert syndrome 13 10.9 NKX2-5 TBX1 TBX5
31 bardet-biedl syndrome 6 10.8 HEY2 JAG1 NOTCH1
32 prostate malignant phyllodes tumor 10.8 GJA1 GJA5 NPPB
33 acute closed-angle glaucoma 10.8 GATA6 NPPB TBX5
34 acrofrontofacionasal dysostosis 10.8 GATA5 GATA6 GJA1 GJA5 NPPB TBX5
35 non-dystrophic myotonic disorders 10.7 JAG1 NOTCH1
36 skull base neoplasm 10.7 GATA4 GATA6 ZFPM2
37 beta-ureidopropionase deficiency 10.7 HIRA TBX1 UFD1
38 idiopathic recurrent pericarditis 10.7 GATA4 ZFPM2
39 atrioventricular septal defect 10.5
40 ventricular septal defect 10.5
41 ascending cholangitis 10.4 GDF1 NKX2-6 NPPB
42 congenital diarrhea 7 with exudative enteropathy 10.4 GDF1 NKX2-6 NPPB
43 progressive multifocal leukoencephalopathy 10.4 GATA4 JAG1 NKX2-6 TBX5
44 cervical serous adenocarcinoma 10.4 GATA4 GATA6 NKX2-6 TBX5
45 macroglossia 10.4 GATA4 GDF1 NKX2-5 NKX2-6 NPPB
46 complete atrioventricular canal 10.4
47 optic nerve disease 10.4 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
48 pleomorphic liposarcoma 10.4 NKX2-6 NOTCH1 NPPB
49 takayasu arteritis 10.4 GDF1 HEY2 NKX2-5 NKX2-6 ZFPM2
50 craniosynostosis 7 10.3 NKX2-6 NOTCH1 NPPB TBX5

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



Diseases related to Tetralogy of Fallot

Symptoms & Phenotypes for Tetralogy of Fallot

Symptoms via clinical synopsis from OMIM:

54

Facies:
prominent eyes
broad forehead

Cardiac:
tetralogy of fallot

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

Limbs:
fifth finger clinodactyly

Ears:
preauricular pits


Clinical features from OMIM:

187500

Human phenotypes related to Tetralogy of Fallot:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000520
2 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
3 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
4 broad forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000337
5 tetralogy of fallot 56 32 frequent (33%) Frequent (79-30%) HP:0001636
6 thin vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0000233
7 dolichocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000268
8 preauricular pit 56 32 frequent (33%) Frequent (79-30%) HP:0004467
9 underdeveloped supraorbital ridges 56 32 frequent (33%) Frequent (79-30%) HP:0009891
10 abnormal nasal morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005105
11 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
12 brachydactyly 32 hallmark (90%) HP:0001156
13 brachydactyly syndrome 56 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 GATA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.87 TBX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 CITED2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.87 HEY2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.87 GATA6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.87 TBX5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.87 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.87 NOTCH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.87 CITED2 TBX5 GATA6 HEY2 NOTCH1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.87 GATA6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.87 TBX5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.87 NOTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.87 TBX5 NOTCH1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.87 HEY2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.87 GATA6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.87 CITED2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 CITED2 GATA6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.87 GATA6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.87 NOTCH1 CITED2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.87 GATA6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.87 TBX5
23 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.87 TBX5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.87 HEY2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 NOTCH1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.87 GATA6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.87 HEY2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 GATA6

MGI Mouse Phenotypes related to Tetralogy of Fallot:

44 (show all 19)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.51 CITED2 GATA4 GATA5 GATA6 GDF1 GJA1
2 cellular MP:0005384 10.42 GATA6 GDF1 GJA1 HIRA ISL1 JAG1
3 homeostasis/metabolism MP:0005376 10.4 CITED2 GATA4 GATA5 GATA6 GJA1 GJA5
4 embryo MP:0005380 10.39 CITED2 GATA4 GATA6 GDF1 GJA1 HEY2
5 growth/size/body region MP:0005378 10.37 JAG1 NKX2-5 NKX2-6 NOTCH1 TBX1 TBX5
6 mortality/aging MP:0010768 10.33 NKX2-6 NOTCH1 TBX1 TBX5 ZFPM2 CITED2
7 endocrine/exocrine gland MP:0005379 10.31 CITED2 GATA4 GATA5 GDF1 GJA1 GJA5
8 craniofacial MP:0005382 10.27 CITED2 GDF1 GJA1 HEY2 HIRA ISL1
9 digestive/alimentary MP:0005381 10.26 CITED2 GATA4 GATA5 GDF1 GJA5 ISL1
10 hematopoietic system MP:0005397 10.25 CITED2 GATA4 GATA6 GDF1 GJA1 GJA5
11 muscle MP:0005369 10.21 NOTCH1 TBX1 TBX5 ZFPM2 GATA4 GATA5
12 integument MP:0010771 10.13 ISL1 JAG1 NKX2-5 NOTCH1 TBX1 ZFPM2
13 nervous system MP:0003631 10.06 HEY2 HIRA ISL1 JAG1 NKX2-5 NOTCH1
14 normal MP:0002873 10.03 CITED2 GATA4 GATA6 GDF1 GJA1 GJA5
15 limbs/digits/tail MP:0005371 10 CITED2 GATA4 GATA6 GJA1 ISL1 TBX1
16 liver/biliary system MP:0005370 9.98 GATA4 GATA6 GDF1 HEY2 JAG1 NOTCH1
17 no phenotypic analysis MP:0003012 9.86 GATA4 GJA1 GJA5 HIRA ISL1 JAG1
18 respiratory system MP:0005388 9.73 CITED2 GATA4 GATA6 GDF1 GJA1 GJA5
19 skeleton MP:0005390 9.36 GDF1 GJA1 HIRA ISL1 JAG1 NOTCH1

Drugs & Therapeutics for Tetralogy of Fallot

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

(show top 50) (show all 51)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 150310 443872
2
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
3 Hormones Phase 4
4 diuretics Phase 4,Phase 2,Phase 3
5 Natriuretic Agents Phase 4,Phase 2,Phase 3
6 Diuretics, Potassium Sparing Phase 4
7 Hormone Antagonists Phase 4
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9 Mineralocorticoid Receptor Antagonists Phase 4
10 Mineralocorticoids Phase 4
11
Dobutamine Approved Phase 3 34368-04-2 36811
12 Natriuretic Peptide, Brain Phase 2, Phase 3
13 Adrenergic Agents Phase 3,Phase 1
14 Adrenergic Agonists Phase 3,Phase 1
15 Adrenergic beta-Agonists Phase 3
16 Autonomic Agents Phase 3
17 Neurotransmitter Agents Phase 3,Phase 1
18 Peripheral Nervous System Agents Phase 3,Phase 1
19 Protective Agents Phase 3
20
Losartan Approved Phase 2 114798-26-4 3961
21
Angiotensin II Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
22 Angiotensin II Type 1 Receptor Blockers Phase 2
23 Angiotensin Receptor Antagonists Phase 2
24 Angiotensinogen Phase 2
25 Anti-Arrhythmia Agents Phase 2
26 Antihypertensive Agents Phase 2
27
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
28 Adrenergic alpha-2 Receptor Agonists Phase 1
29 Adrenergic alpha-Agonists Phase 1
30 Analgesics Phase 1
31 Analgesics, Non-Narcotic Phase 1
32 Central Nervous System Depressants Phase 1
33 Hypnotics and Sedatives Phase 1
34
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
35
Menthol Approved 2216-51-5 16666
36
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
37 Anesthetics
38 Adjuvants, Anesthesia
39 Analgesics, Opioid
40 Anesthetics, General
41 Anesthetics, Intravenous
42 Narcotics
43 Anticoagulants
44 Bone Density Conservation Agents
45 Calcium, Dietary
46 Chelating Agents
47 Tin Fluorides
48 Retinol palmitate
49 Citrate Nutraceutical
50
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 53)

id Name Status NCT ID Phase Drugs
1 Myocardial Protection and Clinical Outcome in Patients Undergoing Tetralogy of Fallot Repair : A Randomized Study of Two Different Cardioplegia Technique Completed NCT02646254 Phase 4
2 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Not yet recruiting NCT02987387 Phase 4
3 The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
4 Multi-center Trial of Percutaneous Pulmonary Valve Implantation With Venus-p Unknown status NCT02590679 Phase 2, Phase 3
5 Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of Fallot Recruiting NCT01941576 Phase 2, Phase 3 recombinant human brain natriuretic peptide (rhBNP);Placebo (0.9% sodium chloride)
6 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Phase 3
7 Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of Fallot Terminated NCT00564993 Phase 3 Dobutamin
8 Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone System Recruiting NCT02010905 Phase 2 Losartan;Placebo
9 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
10 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
11 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1 Dexmedetomidine
12 Biomodel in Tetralogy of Fallot Unknown status NCT00155428
13 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829
14 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
15 Exercise Training in Adults With Corrected Tetralogy of Fallot Completed NCT02643810
16 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
17 Tetralogy of Fallot Seed Grant Completed NCT00722826
18 Comparison of Two Pulmonary Valve Replacement Methods to Treat Tetralogy of Fallot Completed NCT00112320
19 Right Ventricular Contractility Reserve Following Repair of Tetralogy of Fallot Completed NCT00557934
20 Assessment of Right Ventricular Volume in Tetralogy of Fallott (TOF) Patients Completed NCT01419756
21 Retrospective Review of Anesthetic Considerations for Pulmonary Artery Rehabilitation Completed NCT02586740
22 Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRI Completed NCT00489788
23 Early Revalvulation After Fallot Repair Improves Clinical Outcome Completed NCT02534792
24 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
25 Myocardial Contrast Echocardiography in Congenital Heart Disease Completed NCT00412685
26 MRI Assessment of RV Function: Patients With TOF or Aortic Coarctation Completed NCT00277901
27 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
28 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
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 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
31 Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP) Completed NCT00308230
32 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
33 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
34 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Recruiting NCT02186691
35 Tetralogy of Fallot for Life Recruiting NCT02968264
36 Effects of Changes in Fluid Status on Right Ventricular Volumes and Function Recruiting NCT02967315
37 Calcium Current in Human Heart Cells Recruiting NCT00243776
38 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
39 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963
40 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
41 The Medtronic Harmony™ Transcatheter Pulmonary Valve Clinical Study Recruiting NCT02979587
42 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
43 Integrated Computational modelIng of Right Heart Mechanics and Blood Flow Dynamics in Congenital Heart Disease Recruiting NCT03217240
44 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777
45 Study of the Native Outflow Tract Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT01762124
46 Pulmonary Artery Repair With Covered Stents Active, not recruiting NCT01824160
47 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
48 Comparison of RVOT Gradient Under Anaesthesia With Post-operative Gradient in Patients Undergoing TOF Repair Enrolling by invitation NCT03234582
49 4D Velocity Mapping of the Heart in rTOF Patients Not yet recruiting NCT02980614
50 Physical Capacity and Activity in Children With Congenital Heart Disease Not yet recruiting NCT03275844

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:

id Genetic test Affiliating Genes
1 Tetralogy of Fallot 29 24 GDF1 NKX2-5 ZFPM2 GATA6 JAG1

Anatomical Context for Tetralogy of Fallot

MalaCards organs/tissues related to Tetralogy of Fallot:

39
Heart, Skin, Lung, Brain, Bone, Testes, Eye

Publications for Tetralogy of Fallot

Articles related to Tetralogy of Fallot:

(show top 50) (show all 934)
id Title Authors Year
1
Total Correction of Tetralogy of Fallot at Early Age: A Study of 183 Cases. ( 28511925 )
2017
2
Spectrum of pulmonary valve morphology and its relationship to pulmonary trunk in tetralogy of Fallot. ( 28515589 )
2017
3
Moyamoya Disease as a Cause of Stroke in a Child with Tetralogy of Fallot. ( 28479818 )
2017
4
Anesthetic Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve. ( 28465119 )
2017
5
Right ventricular outflow tract stent versus BT shunt palliation in Tetralogy of Fallot. ( 28814489 )
2017
6
Cardiac Function After Tetralogy of Fallot/Complete Atrioventricular Canal Repair. ( 28329461 )
2017
7
Aortic Dilatation in Repaired Tetralogy of Fallot. ( 28412425 )
2017
8
Clinical Progress in the Management of Tetralogy of Fallot in the Dominican Republic: A Case Series. ( 28901230 )
2017
9
Pulmonary vasodilator therapy in tetralogy of Fallot with pulmonary atresia and major aortopulmonary collaterals: case series and review of literature. ( 28786367 )
2017
10
Clinical implications of hypothermic ventricular fibrillation versus beating-heart technique during cardiopulmonary bypass for pulmonary valve replacement in patients with repaired tetralogy of Fallot. ( 28535202 )
2017
11
Pulmonary Valve Procedures Late After Repair of Tetralogy of Fallot: Current Perspectives and Contemporary Approaches to Management. ( 28843325 )
2017
12
Clinical Aspects and Ablation of Ventricular Arrhythmias in Tetralogy of Fallot. ( 28457242 )
2017
13
Degenerative Severe Aortic Stenosis in Tetralogy of Fallot: Multimodality Echocardiographic Hemodynamic Assessment. ( 28759493 )
2017
14
Percutaneous management of complex acquired aortic coarctation in an adult with tetralogy of Fallot and pulmonary atresia. ( 28928619 )
2017
15
Patient outcomes after transcatheter and surgical pulmonary valve replacement for pulmonary regurgitation in patients with repaired tetralogy of Fallot: A quasi-meta-analysis. ( 28756698 )
2017
16
At what age should tetralogy of Fallot be corrected? ( 28077181 )
2017
17
Postsystolic Shortening Is Associated with Altered Right Ventricular Function in Children after Tetralogy of Fallot Surgical Repair. ( 28046050 )
2017
18
Right vEntricular Dysfunction in tEtralogy of Fallot: INhibition of the rEnin-angiotensin-aldosterone system (REDEFINE) trial: Rationale and design of a randomized, double-blind, placebo-controlled clinical trial. ( 28454836 )
2017
19
Different predictivity of fluid responsiveness by pulse pressure variation in children after surgical repair of ventricular septal defect or tetralogy of Fallot. ( 28857356 )
2017
20
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia. ( 28497001 )
2017
21
Unexpected Internalization of a Pulmonary Artery Band in a Porcine Model of Tetralogy of Fallot. ( 28033087 )
2017
22
Bronchoscopy in children with tetralogy of fallot, pulmonary atresia, and major aortopulmonary collaterals. ( 28504356 )
2017
23
Turbulent kinetic energy in the right ventricle: Potential MR marker for risk stratification of adults with repaired Tetralogy of Fallot. ( 28766919 )
2017
24
Right ventricular workload assessed by FDG-PET in a patient with residual VSD and infundibular pulmonary stenosis after repair of tetralogy of Fallot. ( 28462468 )
2017
25
Revisiting the utility of technical performance scores following tetralogy of Fallot repair. ( 28461051 )
2017
26
Usefulness of right ventricular and right atrial two-dimensional speckle tracking strain to predict late arrhythmic events in adult patients with repaired Tetralogy of Fallot. ( 27939278 )
2017
27
Repair of complete atrioventricular septal defect with tetralogy of Fallot. ( 28164023 )
2017
28
A case of schizophrenia comorbid for tetralogy of Fallot treated with clozapine: further considerations on a role for 22q.11.2 in the proneness for seizures. ( 28919758 )
2017
29
Basic arterial blood gas biomarkers as a predictor of mortality in tetralogy of Fallot patients. ( 28074799 )
2017
30
Quality of Life is Diminished in Patients with Tetralogy of Fallot with Mild Residual Disease: A Comparison of Tetralogy of Fallot and Isolated Valvar Pulmonary Stenosis. ( 28856395 )
2017
31
Stenting of the Right Ventricular Outflow Tract Promotes Better Pulmonary Arterial Growth Compared With Modified Blalock-Taussig Shunt Palliation in Tetralogy of Fallot-Type Lesions. ( 28882285 )
2017
32
Long-term respiratory outcomes after primary total correction for tetralogy of Fallot and absent pulmonary valve in patient with respiratory symptoms. ( 28523732 )
2017
33
Minimally Invasive Esophagectomy in a Patient With Tetralogy of Fallot and Right-Sided Aortic Arch. ( 28007281 )
2017
34
Percutaneous valve in valve in the tricuspid position in a patient with Tetralogy of Fallot. ( 28768675 )
2017
35
Catheter palliation or early surgery for tetralogy of Fallot: Options when timing is less than ideal. ( 28890082 )
2017
36
Left Ventricular Stiffness in Adolescents and Young Adults with Repaired Tetralogy of Fallot. ( 28455532 )
2017
37
Successful treatment of a hepatic-hemangioendothelioma infant presenting with hypothyroidism and tetralogy of Fallot. ( 28838853 )
2017
38
How to Image Repaired Tetralogy of Fallot. ( 28495821 )
2017
39
The Role of Conventional and Right-Sided ECG Screening for Subcutaneous ICD in a Tetralogy of Fallot Population. ( 28070890 )
2017
40
Importance of Non-invasive Right and Left VentricularA Variables on Exercise Capacity in Patients with Tetralogy of Fallot Hemodynamics. ( 28776135 )
2017
41
Main pulmonary artery cross-section ratio is low in fetuses with tetralogy of Fallot and ductus arteriosus-dependent pulmonary circulation. ( 28077176 )
2017
42
Postoperative interventricular septal haematoma following tetralogy of Fallot repair and perimembranous ventricular septal defect repair. ( 28364481 )
2017
43
Forced vital capacity predicts morbidity and mortality in adults with repaired tetralogy of Fallot. ( 28464509 )
2017
44
Role of Acquired Cardiovascular Disease inA Tetralogy of Fallot Patients >50 Years of Age. ( 28494985 )
2017
45
Development of quality metrics for ambulatory care in pediatric patients with tetralogy of Fallot. ( 28880457 )
2017
46
Psychiatric Disorders and Function in Adolescents with Tetralogy of Fallot. ( 28533034 )
2017
47
Ventricular Fibrillation and Myocardial Depression Following Pulmonary Valve Replacement in Tetralogy of Fallot With an Intramural Coronary Artery and Coronary Artery Compression by Chest Tube. ( 28933244 )
2017
48
Stenting of right ventricular outflow tract in Tetralogy of Fallot with subarterial ventricular septal defect: A word of caution. ( 28928615 )
2017
49
Is the presence of end-diastolic forward flow specific for restrictive right ventricular physiology in repaired tetralogy of Fallot? ( 28457561 )
2017
50
Impact of Structural Cerebral Damage in Adults With Tetralogy of Fallot. ( 28483835 )
2017

Variations for Tetralogy of Fallot

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

71 (show all 16)
id Symbol AA change Variation ID SNP ID
1 GATA4 p.Ala9Pro VAR_071514
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 NKX2-5 p.Glu21Gln VAR_038215 rs104893904
10 NKX2-5 p.Gln22Pro VAR_038216
11 NKX2-5 p.Arg216Cys VAR_038239 rs104893905
12 NKX2-5 p.Ala219Val VAR_038240 rs104893902
13 NKX2-5 p.Ala323Thr VAR_038253
14 ZFPM2 p.Glu30Gly VAR_017942 rs121908601
15 ZFPM2 p.Ser657Gly VAR_017943 rs28374544
16 ZFPM2 p.Met544Ile VAR_072075 rs187043152

ClinVar genetic disease variations for Tetralogy of Fallot:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 TBX1 TBX1, 30-BP DUP, NT1399 duplication Pathogenic
2 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Pathogenic rs28939668 GRCh37 Chromosome 20, 10633181: 10633181
3 NKX2-5 NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs104893905 GRCh37 Chromosome 5, 172659901: 172659901
4 NKX2-5 NM_004387.3(NKX2-5): c.656C> T (p.Ala219Val) single nucleotide variant Pathogenic rs104893902 GRCh37 Chromosome 5, 172659891: 172659891
5 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
6 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
7 GATA4 GATA4, 3-BP INS, 354GCC insertion Pathogenic
8 GATA6 NM_005257.5(GATA6): c.592C> G (p.Leu198Val) single nucleotide variant Pathogenic rs387906814 GRCh37 Chromosome 18, 19751697: 19751697
9 GATA6 NM_005257.5(GATA6): c.551G> A (p.Ser184Asn) single nucleotide variant Pathogenic rs387906816 GRCh37 Chromosome 18, 19751656: 19751656
10 EPHB4 NM_004444.4(EPHB4): c.980C> T (p.Pro327Leu) single nucleotide variant Likely pathogenic rs1057515420 GRCh37 Chromosome 7, 100417496: 100417496
11 NOTCH1 NM_017617.4(NOTCH1): c.578G> A (p.Gly193Asp) single nucleotide variant Pathogenic rs774966208 GRCh37 Chromosome 9, 139417466: 139417466
12 TPM1 NM_001018005.1(TPM1): c.114+2T> C single nucleotide variant Likely pathogenic rs1114167357 GRCh37 Chromosome 15, 63335144: 63335144

Copy number variations for Tetralogy of Fallot from CNVD:

7 (show top 50) (show all 82)
id CNVD ID Chromosom 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

GO Terms for Tetralogy of Fallot

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

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 CITED2 GATA4 GATA5 GATA6 HEY2 HIRA
2 nucleoplasm GO:0005654 9.36 CITED2 GATA4 GATA5 GATA6 HEY2 HIRA

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

(show top 50) (show all 91)
id Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.94 HEY2 JAG1 NOTCH1
2 lung development GO:0030324 9.93 NOTCH1 TBX5 ZFPM2
3 liver development GO:0001889 9.92 CITED2 GATA6 NOTCH1
4 determination of left/right symmetry GO:0007368 9.91 CITED2 NOTCH1 TBX1
5 in utero embryonic development GO:0001701 9.9 GATA6 NOTCH1 ZFPM2
6 negative regulation of cell differentiation GO:0045596 9.9 JAG1 NOTCH1 TBX1
7 negative regulation of neuron differentiation GO:0045665 9.89 ISL1 JAG1 NOTCH1
8 embryonic limb morphogenesis GO:0030326 9.89 GJA5 NOTCH1 TBX5
9 pattern specification process GO:0007389 9.89 HEY2 TBX1 TBX5
10 heart morphogenesis GO:0003007 9.87 ISL1 NKX2-5 TBX1
11 cell communication GO:0007154 9.87 GJA1 GJA5 JAG1
12 positive regulation of BMP signaling pathway GO:0030513 9.85 GATA4 GATA6 NOTCH1
13 cardiac muscle cell differentiation GO:0055007 9.85 GATA4 GATA6 NKX2-5 TBX5
14 pharyngeal system development GO:0060037 9.84 ISL1 NKX2-5 NKX2-6 TBX1
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.83 GATA6 HEY2 NOTCH1 TBX5 ZFPM2
16 cardiac muscle tissue development GO:0048738 9.82 GATA6 NKX2-5 ZFPM2
17 embryonic heart tube development GO:0035050 9.82 GJA5 NKX2-5 NKX2-6
18 ventricular trabecula myocardium morphogenesis GO:0003222 9.81 HEY2 NKX2-5 NOTCH1
19 heart looping GO:0001947 9.81 GATA4 NKX2-5 NOTCH1
20 cardiac right ventricle morphogenesis GO:0003215 9.81 GATA4 HEY2 ISL1 JAG1
21 vasculogenesis GO:0001570 9.8 HEY2 NKX2-5 ZFPM2
22 outflow tract septum morphogenesis GO:0003148 9.8 GATA6 ISL1 NKX2-5 TBX1 ZFPM2
23 blood vessel development GO:0001568 9.79 GJA5 HEY2 TBX1
24 pulmonary valve morphogenesis GO:0003184 9.79 HEY2 JAG1 NOTCH1
25 ventricular cardiac muscle cell development GO:0055015 9.78 HEY2 NKX2-5 NKX2-6
26 negative regulation of cardiac muscle cell proliferation GO:0060044 9.77 GJA1 TBX5
27 male gonad development GO:0008584 9.77 GATA4 GATA6
28 Notch signaling involved in heart development GO:0061314 9.77 HEY2 JAG1 NOTCH1
29 cell fate specification GO:0001708 9.76 NOTCH1 TBX1
30 negative regulation of myotube differentiation GO:0010832 9.76 NKX2-5 NOTCH1
31 endocardial cushion morphogenesis GO:0003203 9.76 ISL1 NOTCH1
32 heart trabecula formation GO:0060347 9.76 HEY2 NKX2-5
33 cardiac muscle cell proliferation GO:0060038 9.76 NKX2-5 NOTCH1
34 intestinal epithelial cell differentiation GO:0060575 9.76 GATA4 GATA5 GATA6
35 cardiac ventricle morphogenesis GO:0003208 9.76 GATA4 HEY2 NKX2-5 NOTCH1
36 smooth muscle cell differentiation GO:0051145 9.75 GATA6 HEY2
37 cardiac muscle hypertrophy in response to stress GO:0014898 9.75 GATA6 HEY2
38 aorta morphogenesis GO:0035909 9.75 JAG1 TBX1
39 left/right axis specification GO:0070986 9.75 CITED2 NOTCH1
40 cardiac epithelial to mesenchymal transition GO:0060317 9.75 HEY2 NOTCH1
41 negative regulation of stem cell differentiation GO:2000737 9.74 JAG1 NOTCH1
42 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.74 GJA1 GJA5
43 cardiac muscle tissue morphogenesis GO:0055008 9.74 NKX2-5 NOTCH1
44 response to muramyl dipeptide GO:0032495 9.74 JAG1 NOTCH1
45 atrioventricular valve morphogenesis GO:0003181 9.74 NOTCH1 TBX5
46 cardiac left ventricle morphogenesis GO:0003214 9.73 HEY2 NOTCH1
47 pericardium development GO:0060039 9.73 NKX2-6 TBX5
48 response to fluid shear stress GO:0034405 9.73 CITED2 GJA1
49 coronary artery morphogenesis GO:0060982 9.73 NOTCH1 TBX1
50 ventricular septum development GO:0003281 9.73 GATA4 GJA5 TBX5

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.85 GATA4 GATA6 HEY2 NKX2-5 TBX5 ZFPM2
2 transcription regulatory region DNA binding GO:0044212 9.84 GATA4 GATA5 GATA6 NKX2-5
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.72 GATA4 GATA5 GATA6 NKX2-5 TBX5
4 chromatin binding GO:0003682 9.7 CITED2 GATA4 GATA5 GATA6 ISL1 NKX2-5
5 transcription factor activity, sequence-specific DNA binding GO:0003700 9.7 CITED2 GATA4 GATA5 GATA6 HEY2 HIRA
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.69 GATA5 GATA6 NKX2-5
7 RNA polymerase II transcription coactivator activity GO:0001105 9.63 CITED2 ISL1 ZFPM2
8 enhancer sequence-specific DNA binding GO:0001158 9.58 GATA4 GATA5 ISL1
9 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 9.56 NKX2-5 NOTCH1
10 RNA polymerase II transcription factor binding GO:0001085 9.56 GATA4 GATA5 GATA6 ZFPM2
11 gap junction channel activity GO:0005243 9.55 GJA1 GJA5
12 connexin binding GO:0071253 9.49 GJA1 GJA5
13 RNA polymerase II activating transcription factor binding GO:0001102 9.48 HEY2 ISL1
14 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.43 GJA1 GJA5
15 sequence-specific DNA binding GO:0043565 9.32 GATA4 GATA5 GATA6 HEY2 ISL1 NKX2-5
16 DNA binding GO:0003677 10.18 GATA4 GATA5 GATA6 HEY2 ISL1 NKX2-5

Sources for Tetralogy of Fallot

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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