MCID: TTR001
MIFTS: 66

Tetralogy of Fallot malady

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

Aliases & Classifications for Tetralogy of Fallot

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Tetralogy of Fallot:

Name: Tetralogy of Fallot 49 10 11 45 22 12 51 67 36
Fallot Tetralogy 45 24
Tof 45 67
 
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 10
Tetrology of Fallot 49

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61
tetralogy of fallot:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 187500
Disease Ontology10 DOID:6419
ICD1027 Q21.3
ICD9CM29 745.2
MeSH36 D013771
NCIt42 C84505
Orphanet51 3303
ICD10 via Orphanet28 Q21.3
MESH via Orphanet37 D013771
UMLS via Orphanet66 C0039685
MedGen34 C0039685
UMLS65 C0039685

Summaries for Tetralogy of Fallot

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NIH Rare Diseases:45 Tetralogy of fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). tetralogy of fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). the cause of this condition is unknown. treatment involves surgery to repair the heart defects. sometimes more than one surgery is needed.  last updated: 3/15/2012

MalaCards based summary: Tetralogy of Fallot, also known as fallot tetralogy, is related to ventricular septal defect 1 and hepatitis c, and has symptoms including abnormal nasal morphology, clinodactyly of the 5th finger and intrauterine growth retardation. An important gene associated with Tetralogy of Fallot is NKX2-5 (NK2 Homeobox 5), and among its related pathways are HOP Signaling and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

UniProtKB/Swiss-Prot:67 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:68 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:49 187500

Related Diseases for Tetralogy of Fallot

About this section

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

(show top 50)    (show all 525)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect 131.1AVSD1, FEZF2, GATA4
2hepatitis c30.9GATA4, NKX2-5, NKX2-6, TBX5
3sclerosing cholangitis30.0FEZF2, NKX2-6
4tetralogy of fallot and glaucoma12.6
5complete atrioventricular canal-fallot tetralogy syndrome12.6
6duodenal atresia tetralogy of fallot12.6
7hypertelorism and tetralogy of fallot12.6
8double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis10.7
9neuronitis10.6
10univentricular heart with single atrio-ventricular valve10.6GATA4, GATA6
11partial deletion of y10.6GATA4, GATA6
12hepatitis10.6
13breast cancer10.6
14leukemia10.6
15joubert syndrome 1310.6NKX2-5, TBX1, TBX5
16prostatitis10.6
17pancreatitis10.6
18thyroiditis10.6
19dysmorphism-short stature-deafness-disorder of sex development syndrome10.6GATA4, ZFPM2
20trigeminal trophic syndrome10.5HEY2, ZFPM2
21cerebritis10.5
22adams-oliver syndrome 110.5
23ventricular septal defect 310.5
24adams-oliver syndrome 510.5
25adams-oliver syndrome 610.5
26digeorge syndrome10.5
27pancreatic agenesis and congenital heart defects10.5
28cor triatriatum10.5
29lung cancer10.5
30prostate cancer10.5
31tuberculosis10.5
32neovascular glaucoma10.5GATA4, GATA5, NKX2-5, TBX5
33chromophobe adenoma10.5GATA4, GATA6, ZFPM2
34arthritis10.5
35lymphoma10.5
36melanoma10.5
37rheumatoid arthritis10.4
38ovarian cancer10.4
39adenocarcinoma10.4
40retinitis10.4
41neuropathy10.4
42encephalitis10.4
43holt-oram syndrome10.4TBX1, TBX5
44graves' disease10.4
45vaginitis10.4
46cervicitis10.4
47endotheliitis10.4
48schizophrenia10.3
49myocardial infarction10.3
50systemic lupus erythematosus10.3

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



Diseases related to tetralogy of fallot

Symptoms for Tetralogy of Fallot

About this section

Symptoms by clinical synopsis from OMIM:

187500

Clinical features from OMIM:

187500

Symptoms:

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

HPO human phenotypes related to Tetralogy of Fallot:

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

Drugs & Therapeutics for Tetralogy of Fallot

About this section

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

(show all 47)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
EplerenoneapprovedPhase 489107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
2HormonesPhase 411748
3Natriuretic AgentsPhase 4, Phase 2, Phase 31403
4diureticsPhase 4, Phase 2, Phase 31194
5MineralocorticoidsPhase 4301
6Mineralocorticoid Receptor AntagonistsPhase 4284
7Hormone AntagonistsPhase 410002
8Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 49988
9Diuretics, Potassium SparingPhase 41445
10Natriuretic Peptide, BrainPhase 2, Phase 3176
11
LosartanapprovedPhase 2276114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
12Antihypertensive AgentsPhase 23618
13Anti-Arrhythmia AgentsPhase 22371
14
Angiotensin IIPhase 2103368521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
15AngiotensinogenPhase 21032
16Angiotensin II Type 1 Receptor BlockersPhase 2949
17Angiotensin Receptor AntagonistsPhase 21039
18
DexmedetomidineapprovedPhase 1470113775-47-668602, 5311068, 56032
Synonyms:
(+)-4-((S)-alpha,2,3-Trimethylbenzyl)imidazole
(+)-4-((S)-alpha,2,3-trimethylbenzyl)imidazole
(+)-medetomidine
(S)-medetomidine
113775-47-6
4-[(1S)-1-(2,3-Dimethylphenyl)ethyl]-1H-imidazole
4-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
5-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
AC1NSJXT
C07450
CHEBI:4466
CHEMBL778
CID5311068
D00514
DEXMEDETOMIDINE
Dexdor (T)
 
Dexmedetomidin
Dexmedetomidina
Dexmedetomidine
Dexmedetomidine (USAN/INN)
Dexmedetomidine Hydrochloride
Dexmedetomidinum
Dexmédétomidine
MPV 1440
MPV-1440
Medetomidina [Spanish]
Medetomidine
Medetomidinum [Latin]
NCGC00025347-01
PRECEDEX
Precedex
Precedex (TN)
Tocris-2023
ZINC04632106
19Analgesics, Non-NarcoticPhase 15184
20Peripheral Nervous System AgentsPhase 118510
21Neurotransmitter AgentsPhase 114795
22Hypnotics and SedativesPhase 12032
23Central Nervous System DepressantsPhase 110016
24AnalgesicsPhase 19358
25Adrenergic AgentsPhase 14204
26Adrenergic AgonistsPhase 12331
27Adrenergic alpha-AgonistsPhase 11300
28Adrenergic alpha-2 Receptor AgonistsPhase 1790
29
Dobutamineapproved10834368-04-236811
Synonyms:
(+-)-4-(2-((3-(P-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
(+-)-4-(2-((3-(p-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
3,4-Dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
3,4-dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
34368-04-2
34368-04-2 (Parent)
4-(2-{[3-(4-hydroxyphenyl)-1-methylpropyl]amino}ethyl)benzene-1,2-diol
4-(2-{[4-(4-hydroxyphenyl)butan-2-yl]amino}ethyl)benzene-1,2-diol
4-[2-[4-(4-hydroxyphenyl)butan-2-ylamino]ethyl]benzene-1,2-diol
4-{2-[3-(4-hydroxy-phenyl)-1-methyl-propylamino]-ethyl}-benzene-1,2-diol
52663-81-7 (hydrochloride)
74753-15-4
74753-15-4 (hydrobromide)
AC1L1WFF
AC1Q7AD1
BPBio1_000489
BRD-A78322124-003-03-3
BSPBio_000443
C06967
CHEBI:4670
CHEMBL926
CID36811
D03879
DB00841
DL-Dobutamine
DL-dobutamine
Dobutamin
Dobutamina
Dobutamina [INN-Spanish]
Dobutamine
Dobutamine (USP/INN)
Dobutamine Hcl
Dobutamine Hcl in Dextrose 5%
Dobutamine Hydrochloride
 
Dobutamine Tartrate (1:1), (S-(R*,R*))-Isomer
Dobutamine [USAN:BAN:INN]
Dobutamine [USAN]
Dobutamine [Usan:Ban:Inn]
Dobutamine [Usan]
Dobutamine hydrobromide
Dobutamine hydrochloride
Dobutaminum
Dobutaminum [INN-Latin]
Dobutrex
EINECS 277-982-4
HMS2089K05
Inotrex
L001157
LS-174467
LY 81929
Lilly 81929
Lopac0_000365
NCGC00015321-05
NCGC00024629-02
NCGC00024629-03
Prestwick0_000352
Prestwick1_000352
Prestwick2_000352
Prestwick3_000352
Racemic-Dobutamine
Racemic-dobutamine
SPBio_002364
UNII-0WR771DJXV
UNII-3S12J47372
dobutamine
dobutamine(usp)
rac-Dobutamine
rac-dobutamine
racemic-Dobutamine
30
Fentanylapproved, illicit, investigational705437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
Abstral
Actiq
BIDD:GT0555
BRN 0494484
CHEBI:119915
CHEMBL596
CID3345
D00320
DB00813
Duragesic
Duragesic (TN)
Duragesic-100
Duragesic-12
Duragesic-25
Duragesic-50
Duragesic-75
Durogesic
EINECS 207-113-6
Fentanest
Fentanil
Fentanil [DCIT]
Fentanila
Fentanila [INN-Spanish]
Fentanilo
Fentanyl
Fentanyl (JAN/USAN/INN)
Fentanyl - Novaplus
Fentanyl Citrate
Fentanyl [INN:BAN]
Fentanyl citrate
Fentanyl-100
 
Fentanyl-12
Fentanyl-25
Fentanyl-50
Fentanyl-75
Fentanylum
Fentanylum [INN-Latin]
HSDB 3329
IONSYS
JNS020QD
L001275
LS-124439
Lazanda
Matrifen
MolPort-003-847-369
N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
N-(1-Phenethyl-4-piperidyl)propionanilide
N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide
N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide
N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide
N-Phenethyl-4-(N-propionylanilino)piperidine
N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide
N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
NCGC00168252-01
Nasalfent
Oprea1_152073
Oprea1_207148
PDSP1_000860
PDSP2_000846
Pentanyl
Phentanyl
Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
R 4263
Rapinyl
Sentonil
Sublimase
Sublimaze
Subsys
UNII-UF599785JZ
fentanyl
31
Nitric Oxideapproved56410102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
32Anesthetics7385
33Anesthetics, General2274
34Anesthetics, Intravenous1943
35Narcotics2709
36Analgesics, Opioid2304
37Adrenergic beta-Agonists1266
38Protective Agents5651
39Calcium, Dietary4678
40Vasodilator Agents2926
41Respiratory System Agents3931
42Endothelium-Dependent Relaxing Factors225
43Antioxidants2442
44Anti-Asthmatic Agents2796
45Bronchodilator Agents2377
46CitrateNutraceutical1001
47
Citric Acidnutraceutical100177-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid

Interventional clinical trials:

(show all 43)
idNameStatusNCT IDPhase
1Myocardial Protection and Clinical Outcome in Patients Undergoing Tetralogy of Fallot Repair : A Randomized Study of Two Different Cardioplegia TechniqueCompletedNCT02646254Phase 4
2The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart DiseaseTerminatedNCT01971593Phase 4
3Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of FallotRecruitingNCT01941576Phase 2, Phase 3
4Multi-center Trial of Percutaneous Pulmonary Valve Implantation With Venus-pRecruitingNCT02590679Phase 2, Phase 3
5Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve DysfunctionNot yet recruitingNCT02744677Phase 3
6Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of FallotTerminatedNCT00564993Phase 3
7Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone SystemRecruitingNCT02010905Phase 2
8Understanding Dexmedetomidine In Infants Post-Operative From Cardiac SurgeryCompletedNCT00573066Phase 1
9Understanding Dexmedetomidine in Neonates After Open Heart SurgeryCompletedNCT00576381Phase 1
10A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and PharmacokineticsRecruitingNCT01915277Phase 1
11Follow up of Post-repair Tetralogy of FallotCompletedNCT00266188
12Tetralogy of Fallot Seed GrantCompletedNCT00722826
13Early Re-intervention in Infants and Small Children After Correction of Tetralogy of FallotCompletedNCT00536432
14Comparison of Two Pulmonary Valve Replacement Methods to Treat Tetralogy of FallotCompletedNCT00112320
15Right Ventricular Contractility Reserve Following Repair of Tetralogy of FallotCompletedNCT00557934
16Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
17Assessment of Right Ventricular Volume in Tetralogy of Fallott (TOF) PatientsCompletedNCT01419756
18Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRICompletedNCT00489788
19Retrospective Pulmonary Valve Replacement ImagingCompletedNCT00446108
20MRI Assessment of RV Function: Patients With TOF or Aortic CoarctationCompletedNCT00277901
21Measures to Lower the Stress Response in Pediatric Cardiac SurgeryCompletedNCT00848393
22Myocardial Contrast Echocardiography in Congenital Heart DiseaseCompletedNCT00412685
23Reproduction and Survival After Cardiac Defect RepairCompletedNCT00005190
24Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
25Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP)CompletedNCT00308230
26Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental OutcomeCompletedNCT00713635
27Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of FallotRecruitingNCT02186691
28Biomodel in Tetralogy of FallotRecruitingNCT00155428
29Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic ResonanceRecruitingNCT02161471
30Examining Developmental Changes in Heart Contractions of Children With Congenital Heart DefectsRecruitingNCT00860327
31Early Revalvulation After Fallot Repair Improves Clinical OutcomeRecruitingNCT02534792
32Calcium Current in Human Heart CellsRecruitingNCT00243776
33T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
34Quality of Life in Young Adults With Congenital Heart DiseaseRecruitingNCT02463292
35Pulmonary Artery Repair With Covered StentsActive, not recruitingNCT01824160
36Study of the Native Outflow Tract Transcatheter Pulmonary Valve (TPV)Active, not recruitingNCT01762124
37Melody Transcatheter Pulmonary Valve Study: Post Approval Study of the Original IDE CohortActive, not recruitingNCT00740870
38Pilot Study of Inhaled Nitric Oxide to Treat Pulmonary Insufficiency in Congenital Heart DiseaseActive, not recruitingNCT00543933
39Exercise Training in Adults With Corrected Tetralogy of FallotEnrolling by invitationNCT02643810
40Retrospective Review of Anesthetic Considerations for Pulmonary Artery RehabilitationEnrolling by invitationNCT02586740
41Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract ReconstructionNot yet recruitingNCT02700100
42Optimal Timing for Repair of Right-to-Left Shunt LesionsTerminatedNCT00268099
43Adult Pulmonary Valve Replacement: A Simple and Reproducible TechniqueTerminatedNCT00384163

Search NIH Clinical Center for Tetralogy of Fallot


Cochrane evidence based reviews: tetralogy of fallot

Genetic Tests for Tetralogy of Fallot

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Genetic tests related to Tetralogy of Fallot:

id Genetic test Affiliating Genes
1 Tetralogy of Fallot22 GDF1, NKX2-5

Anatomical Context for Tetralogy of Fallot

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MalaCards organs/tissues related to Tetralogy of Fallot:

33
Heart, Lung, Skin, Liver, Endothelial, Testes, T cells

Animal Models for Tetralogy of Fallot or affiliated genes

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MGI Mouse Phenotypes related to Tetralogy of Fallot:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4CITED2, GATA4, GATA6, GJA1, TBX1, TBX5
2MP:000538110.3CITED2, GATA4, GATA5, GDF1, GJA5, JAG1
3MP:000537910.3CITED2, GATA4, GATA5, GDF1, GJA1, GJA5
4MP:000538010.2CITED2, GATA4, GATA6, GDF1, GJA1, HEY2
5MP:000538810.0CITED2, FEZF2, GATA4, GATA6, GDF1, GJA1
6MP:000287310.0CITED2, GATA4, GATA6, GDF1, GJA1, GJA5
7MP:000538210.0CITED2, FEZF2, GDF1, GJA1, HEY2, JAG1
8MP:000538410.0CITED2, FEZF2, GATA4, GATA5, GATA6, GDF1
9MP:00053909.9CITED2, GATA4, GATA5, GDF1, GJA1, JAG1
10MP:00053699.9GATA4, GATA5, GATA6, GJA1, GJA5, HEY2
11MP:00053769.8CITED2, GATA4, GATA5, GATA6, GJA1, GJA5
12MP:00053789.6CITED2, FEZF2, GATA4, GATA6, GDF1, GJA1
13MP:00107689.5CITED2, FEZF2, GATA4, GATA5, GATA6, GDF1
14MP:00053859.3CITED2, GATA4, GATA5, GATA6, GDF1, GJA1

Publications for Tetralogy of Fallot

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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 815)
idTitleAuthorsYear
1
Reduced renal calcium excretion in the absence of sclerostin expression: evidence for a novel calcium-regulating bone kidney axis. (24876121)
2014
2
ARDS with septic shock due to Legionella longbeachae pneumonia in a patient with polymyalgia rheumatica. (25024993)
2014
3
Association of mannose-binding lectin 2 gene polymorphisms with persistent Staphylococcus aureus bacteremia. (24595015)
2014
4
Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-. (24101962)
2013
5
Meanings of feeling well for women with fibromyalgia. (23530542)
2013
6
Thyroid-specific inactivation of KIF3A alters the TSH signaling pathway and leads to hypothyroidism. (23511952)
2013
7
Inhibition of ABCB1 expression overcomes acquired docetaxel resistance in prostate cancer. (23861346)
2013
8
Hereditary papulotranslucent acrokeratoderma: a simultaneous presentation in daughter and mother. (23760344)
2013
9
The analysis of the connection between plaque morphology of asymptomatic carotid stenosis and ischemic brain lesions. (24397192)
2013
10
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. (23042642)
2012
11
An association study of thrombospondin 1 and 2 SNPs with coronary artery disease and myocardial infarction among South Indians. (21762961)
2011
12
Pleural fluid analysis of lung cancer vs benign inflammatory disease patients. (20216542)
2010
13
The role of thymic stromal lymphopoietin (TSLP) in allergic disorders. (21109412)
2010
14
Neutrophil gelatinase-associated lipocalin (NGAL/Lcn2) is upregulated in gastric mucosa infected with Helicobacter pylori. (19727808)
2009
15
Level of vascular endothelial growth factor in aqueous humor and surgical results of ahmed glaucoma valve implantation in patients with neovascular glaucoma. (19680051)
2009
16
The relationship between the activation of ERK and the up-regulation of uPA in laryngeal squamous cell carcinoma]. (17634019)
2007
17
Proteolysis of the Ebola virus glycoproteins enhances virus binding and infectivity. (17928356)
2007
18
The frequency of Chlamydia trachomatis major outer membrane protein-specific CD8+ T lymphocytes in active trachoma is associated with current ocular infection. (16495527)
2006
19
P2Y12 gene H2 haplotype is not associated with increased adenosine diphosphate-induced platelet aggregation after initiation of clopidogrel therapy with a high loading dose. (15795539)
2005
20
De novo seropositive rheumatoid arthritis during immunosuppressive treatment after kidney transplantation. (16175949)
2005
21
Genistein enhances insulin-like growth factor signaling pathway in human breast cancer (MCF-7) cells. (15126563)
2004
22
Expression and localization of tenomodulin, a transmembrane type chondromodulin-I-related angiogenesis inhibitor, in mouse eyes. (12714610)
2003
23
NF2 deficiency promotes tumorigenesis and metastasis by destabilizing adherens junctions. (12695331)
2003
24
Seroreactivities against Saccharomyces cerevisiae and Mycobacterium avium subsp. paratuberculosis p35 and p36 antigens in Crohn's disease patients. (12353858)
2002
25
The effect of topical tacrolimus on severe recalcitrant chronic discoid lupus erythematosus. (12174136)
2002
26
Effects of obesity and weight loss on the expression of proteins involved in fatty acid metabolism in human adipose tissue. (12355335)
2002
27
Serum and ascites fluid cytokine levels in patients with chronic heart failure. (11573826)
2001
28
Osteoclast-like cells in an in vitro model of bone destruction by rheumatoid synovium. (11426026)
2001
29
Evaluation of analytical and clinical performance of a dual-probe phenotyping method for CYP2D6 polymorphism and CYP3A4 activity screening. (10942192)
2000
30
Coronary stenting during rescue angioplasty after failed thrombolysis. (10385150)
1999
31
Recurrent steroid-responsive trismus and painful ophthalmoplegia. (10540039)
1999
32
Depressive symptoms associated with gonadotropin-releasing hormone agonists. (9706454)
1998
33
The aryl hydrocarbon receptor interacts with transcription factor IIB. (9765510)
1998
34
Quantitation of HIV-1-specific IgG, IgA, and IgM antibodies in human genital tract secretions. (9257652)
1997
35
Pancreastatin secretion by pituitary adenomas and regulation of chromogranin B mRNA expression. (8669489)
1996
36
Low-dose methotrexate as an adjunctive therapy with surgery for ectropion complicating dermatomyositis. (8829501)
1996
37
Neonatal purpura fulminans in association with factor V R506Q mutation. (8627449)
1996
38
Final results of complete hormone blockade versus monotherapy in prostatic metastatic cancer. PSA implications]. (8669327)
1995
39
Calreticulin functions as a molecular chaperone in the biosynthesis of myeloperoxidase. (7876246)
1995
40
Analysis of MDR1 (multidrug resistance) gene expression by RT-PCR]. (8387754)
1993
41
Enterobius vermicularis salpingitis: a distant episode from precipitating appendicitis. (1495735)
1992
42
Clostridial sepsis with massive intravascular hemolysis: rapid diagnosis and successful treatment. (1289375)
1992
43
Ascariasis. A rare cause of postcholecystectomy symptoms. (632020)
1978
44
Brittle diabetes. (330041)
1977
45
Meconium Ileus: a demonstration of the ileal meconium mass by barium enema examination. (6059629)
1967
46
47
48
49
50

Variations for Tetralogy of Fallot

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

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

Clinvar genetic disease variations for Tetralogy of Fallot:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1GATA4NM_002052.4(GATA4): c.487C> T (p.Pro163Ser)single nucleotide variantPathogenicrs387906769GRCh37Chr 8, 11566308: 11566308
2GATA4NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln)single nucleotide variantPathogenicrs115099192GRCh37Chr 8, 11615875: 11615875
3GATA4GATA4, 3-BP INS, 354GCCinsertionPathogenic
4GATA6NM_005257.5(GATA6): c.592C> G (p.Leu198Val)single nucleotide variantPathogenicrs387906814GRCh37Chr 18, 19751697: 19751697
5GATA6NM_005257.5(GATA6): c.551G> A (p.Ser184Asn)single nucleotide variantPathogenicrs387906816GRCh37Chr 18, 19751656: 19751656
6NM_012082.3(ZFPM2): c.1632G> A (p.Met544Ile)single nucleotide variantPathogenicrs187043152GRCh38Chr 8, 105801714: 105801714
7NM_012082.3(ZFPM2): c.1969A> G (p.Ser657Gly)single nucleotide variantPathogenicrs28374544GRCh37Chr 8, 106814279: 106814279
8ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)single nucleotide variantPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
9NM_001492.5(GDF1): c.485G> A (p.Gly162Asp)single nucleotide variantPathogenicrs121434424GRCh37Chr 19, 18980040: 18980040
10TBX1TBX1, 30-BP DUP, NT1399duplicationPathogenic
11JAG1NM_000214.2(JAG1): c.821G> A (p.Gly274Asp)single nucleotide variantPathogenicrs28939668GRCh37Chr 20, 10633181: 10633181
12NKX2-5NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs104893905GRCh37Chr 5, 172659901: 172659901
13NKX2-5NM_004387.3(NKX2-5): c.656C> T (p.Ala219Val)single nucleotide variantPathogenicrs104893902GRCh37Chr 5, 172659891: 172659891
14GATA4NM_002052.4(GATA4): c.1273G> A (p.Asp425Asn)single nucleotide variantPathogenicrs56208331GRCh37Chr 8, 11615928: 11615928

Expression for genes affiliated with Tetralogy of Fallot

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

Pathways for genes affiliated with Tetralogy of Fallot

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GO Terms for genes affiliated with Tetralogy of Fallot

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell communication by chemical couplingGO:001065211.1GJA1, GJA5
2atrial ventricular junction remodelingGO:000329411.1GJA1, GJA5
3atrial cardiac muscle cell developmentGO:005501411.1NKX2-5, NKX2-6
4bundle of His developmentGO:000316611.0NKX2-5, TBX5
5cardiac muscle hypertrophy in response to stressGO:001489811.0GATA6, HEY2
6negative regulation of cardiac muscle cell proliferationGO:006004411.0GJA1, TBX5
7positive regulation of male gonad developmentGO:200002011.0CITED2, ZFPM2
8endothelium developmentGO:000315811.0GJA1, GJA5
9response to fluid shear stressGO:003440511.0CITED2, GJA1
10regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030711.0GJA1, GJA5
11cell communicationGO:000715411.0GJA5, JAG1
12atrial septum developmentGO:000328310.9GJA5, TBX5
13cardiac ventricle morphogenesisGO:000320810.9GATA4, NKX2-5
14gap junction assemblyGO:001626410.9GJA1, GJA5
15positive regulation of BMP signaling pathwayGO:003051310.9GATA4, GATA6
16cardiac septum morphogenesisGO:006041110.9CITED2, JAG1
17negative regulation of cardiac muscle cell apoptotic processGO:001066710.9HEY2, NKX2-5
18pulmonary artery morphogenesisGO:006115610.9CITED2, HEY2, JAG1
19thyroid gland developmentGO:003087810.9NKX2-5, TBX1
20endocardial cushion developmentGO:000319710.9CITED2, TBX5
21artery morphogenesisGO:004884410.9GJA5, TBX1
22cardiac muscle tissue developmentGO:004873810.9GATA6, NKX2-5, ZFPM2
23aorta morphogenesisGO:003590910.9JAG1, TBX1
24outflow tract septum morphogenesisGO:000314810.8GATA6, NKX2-5, TBX1
25cardiac right ventricle morphogenesisGO:000321510.8GATA4, HEY2, JAG1
26ventricular trabecula myocardium morphogenesisGO:000322210.8HEY2, NKX2-5
27ventricular septum developmentGO:000328110.8CITED2, GATA4, TBX5
28smooth muscle cell differentiationGO:005114510.8GATA6, HEY2
29ventricular septum morphogenesisGO:006041210.8CITED2, GJA5, ZFPM2
30pharyngeal system developmentGO:006003710.8NKX2-5, NKX2-6, TBX1
31cardiac muscle cell differentiationGO:005500710.8GATA4, GATA6, NKX2-5, TBX5
32positive regulation of cardiac muscle cell proliferationGO:006004510.8GATA6, HEY2, TBX5
33outflow tract morphogenesisGO:000315110.8CITED2, HEY2, NKX2-5
34embryonic heart tube developmentGO:003505010.7GJA1, GJA5, NKX2-5, NKX2-6
35cell fate commitmentGO:004516510.7GATA4, GATA6, HEY2
36atrial septum morphogenesisGO:006041310.7GATA4, GJA5, NKX2-5, TBX5
37heart loopingGO:000194710.7CITED2, GATA4, GJA1, NKX2-5
38cell differentiationGO:003015410.7CITED2, NKX2-5, NKX2-6, ZFPM2
39regulation of cardiac muscle contractionGO:005511710.7GJA5, NKX2-5
40pericardium developmentGO:006003910.7NKX2-6, TBX5
41positive regulation of vasoconstrictionGO:004590710.6GJA1, GJA5
42cardiac conductionGO:006133710.6GJA1, GJA5
43pattern specification processGO:000738910.6HEY2, TBX1, TBX5
44regulation of transcription from RNA polymerase II promoterGO:000635710.5CITED2, NKX2-5, TBX1
45transcription from RNA polymerase II promoterGO:000636610.5GATA4, GATA6, NKX2-5, TBX5
46positive regulation of transcription, DNA-templatedGO:004589310.3CITED2, FEZF2, GATA4, GATA5, GATA6, NKX2-5
47heart developmentGO:000750710.2CITED2, GATA5, GJA1, GJA5, HEY2, NKX2-5
48negative regulation of transcription, DNA-templatedGO:004589210.2CITED2, FEZF2, GATA6, HEY2, NKX2-5
49negative regulation of transcription from RNA polymerase II promoterGO:000012210.0CITED2, FEZF2, GATA6, HEY2, NKX2-5, ZFPM2
50positive regulation of transcription from RNA polymerase II promoterGO:00459449.9CITED2, FEZF2, GATA4, HEY2, JAG1, NKX2-5

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:004421210.3GATA5, GATA6, NKX2-5

Sources for Tetralogy of Fallot

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet