MCID: TTR001
MIFTS: 71

Tetralogy of Fallot malady

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

Aliases & Classifications for Tetralogy of Fallot

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Tetralogy of Fallot:

Name: Tetralogy of Fallot 52 11 48 24 54 70 12 39 13
Tof 48 24 70
Fallot Tetralogy 48 27
 
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 11
Tetrology of Fallot 52

Characteristics:

Orphanet epidemiological data:

54
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:

64
tetralogy of fallot:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 187500
Disease Ontology11 DOID:6419
ICD1030 Q21.3
ICD9CM32 745.2
MeSH39 D013771
NCIt45 C84505
Orphanet54 ORPHA3303
MESH via Orphanet40 D013771
UMLS via Orphanet69 C0039685
ICD10 via Orphanet31 Q21.3
MedGen37 C0039685

Summaries for Tetralogy of Fallot

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NIH Rare Diseases:48 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 tetralogy of fallot and glaucoma, and has symptoms including broad forehead, brachydactyly syndrome 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, skin and lung, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:70 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:71 Tetralogy of Fallot (TOF) is a congenital heart defect that is present at birth. Symptoms include... more...

Description from OMIM:52 187500

Related Diseases for Tetralogy of Fallot

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

(show top 50)    (show all 188)
idRelated DiseaseScoreTop Affiliating Genes
1adams-oliver syndrome 531.9NKX2-6, NOTCH1, NPPB
2tetralogy of fallot and glaucoma12.1
3complete atrioventricular canal-fallot tetralogy syndrome12.1
4duodenal atresia tetralogy of fallot12.1
5hypertelorism and tetralogy of fallot12.1
6cor triatriatum11.4
7digeorge syndrome11.4
8adams-oliver syndrome 111.0
9ventricular septal defect 311.0
10ventricular septal defect 111.0
11ritscher-schinzel syndrome11.0
12adams-oliver syndrome 611.0
13pancreatic agenesis and congenital heart defects11.0
14straddling and/or overriding mitral valve10.8GATA4, GATA6
15partial duplication of the short arm of chromosome x10.8GATA4, GATA6
16joubert syndrome 1310.8NKX2-5, TBX1, TBX5
17second-degree atrioventricular block10.8GATA4, NKX2-5, NPPB, TBX5
18takayasu arteritis10.7HEY2, ZFPM2
19drug-induced vasculitis10.7GATA4, ZFPM2
20pituitary adenoma10.7GATA4, GATA6, ZFPM2
21ichthyosis lamellar 210.6GATA5, GJA1, HAND1, NKX2-5, NOTCH1, NPPB
22dyserythropoietic anemia, congenital, type ii10.6HEY2, JAG1, NOTCH1
23atrioventricular septal defect10.5
24adams-oliver syndrome10.5GATA5, GJA5, TBX5
25mirage syndrome10.5JAG1, NOTCH1
26ventricular septal defect10.4
27complete atrioventricular canal10.4
28cervical adenoid basal carcinoma10.3GATA4, NKX2-6, TBX5
29right bundle branch block10.3
30pancreatic serous cystadenocarcinoma10.3GATA4, GATA6, NKX2-6, TBX5
31pericardium disease10.3GATA6, GDF1, NKX2-6, NPPB
32macroglossia10.3GATA4, GDF1, NKX2-5, NKX2-6, NPPB
33aortopulmonary window10.3
34beta-ureidopropionase deficiency10.3GDF1, TBX1, UFD1L
35right aortic arch10.3
36viral hepatitis10.2GATA4, GDF1, NKX2-5, NKX2-6, TBX5
37pulmonic stenosis10.2
38cataract 17, multiple types10.2GDF1, NKX2-6, TBX1, UFD1L
39ceroid lipofuscinosis, neuronal, 610.2NKX2-6, NPPB, TBX5
40pulmonary atresia with ventricular septal defect10.2
41endocarditis10.2
42heart disease10.2
43cardiomyopathy10.2
44dhdds-cdg10.2GATA4, GATA6, GDF1, NKX2-5, NKX2-6, TBX1
45pyelonephritis10.2GATA4, GATA5, HAND1, NKX2-5, NKX2-6, NPPB
46testicular trophoblastic tumor10.2GJA1, HEY2, JAG1, NKX2-6, NOTCH1
47fetal alcohol syndrome10.2GATA4, GATA6, GDF1, GJA1, NKX2-5, NKX2-6
48aneurysm10.2
49double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis10.1
50dextrocardia10.1

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



Diseases related to tetralogy of fallot

Symptoms & Phenotypes for Tetralogy of Fallot

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Symptoms by clinical synopsis from OMIM:

187500

Clinical features from OMIM:

187500

Human phenotypes related to Tetralogy of Fallot:

 64 54 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 broad forehead64 54 hallmark (90%) Very frequent (99-80%) HP:0000337
2 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
3 intrauterine growth retardation64 54 hallmark (90%) Very frequent (99-80%) HP:0001511
4 clinodactyly of the 5th finger64 54 hallmark (90%) Very frequent (99-80%) HP:0004209
5 abnormal nasal morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0005105
6 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
7 thin vermilion border64 54 typical (50%) Frequent (79-30%) HP:0000233
8 dolichocephaly64 54 typical (50%) Frequent (79-30%) HP:0000268
9 abnormality of periauricular region64 typical (50%) HP:0000383
10 proptosis64 54 typical (50%) Frequent (79-30%) HP:0000520
11 tetralogy of fallot64 54 typical (50%) Frequent (79-30%) HP:0001636
12 underdeveloped supraorbital ridges64 54 typical (50%) Frequent (79-30%) HP:0009891
13 preauricular pit64 54 Frequent (79-30%) HP:0004467

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-3510.1CITED2, GATA6, HEY2, NOTCH1, TBX5

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

41 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.6GJA1, HAND1, ISL1, JAG1, NOTCH1, TBX1
2MP:000537010.5GATA4, GATA6, GDF1, HEY2, JAG1, NOTCH1
3MP:000301210.4GATA4, GJA1, GJA5, ISL1, JAG1, NKX2-5
4MP:000538910.3GATA4, GATA5, GATA6, GJA1, GJA5, HAND1
5MP:000537110.3CITED2, GATA4, GATA6, GJA1, HAND1, ISL1
6MP:001077110.2GATA4, GATA5, GJA1, ISL1, JAG1, NKX2-5
7MP:000539710.2CITED2, GATA4, GATA6, GDF1, GJA1, GJA5
8MP:000538210.1CITED2, GDF1, GJA1, HAND1, HEY2, ISL1
9MP:000537910.1CITED2, GATA4, GATA5, GDF1, GJA1, GJA5
10MP:000539010.1CITED2, GATA4, GATA5, GDF1, GJA1, HAND1
11MP:000538810.0CITED2, GATA4, GATA6, GDF1, GJA1, GJA5
12MP:000538110.0CITED2, GATA4, GATA5, GDF1, GJA5, HAND1
13MP:00053809.9CITED2, GATA4, GATA6, GDF1, GJA1, HAND1
14MP:00036319.9CITED2, GATA4, GDF1, GJA1, HAND1, HEY2
15MP:00053699.9GATA4, GATA5, GATA6, GJA1, GJA5, HAND1
16MP:00053849.9CITED2, GATA4, GATA5, GATA6, GDF1, GJA1
17MP:00053789.7CITED2, GATA4, GATA6, GDF1, GJA1, HAND1
18MP:00028739.7CITED2, GATA4, GATA6, GDF1, GJA1, GJA5
19MP:00053769.6CITED2, GATA4, GATA5, GATA6, GJA1, GJA5
20MP:00107689.5CITED2, GATA4, GATA5, GATA6, GDF1, GJA1
21MP:00053859.5CITED2, GATA4, GATA5, GATA6, GDF1, GJA1

Drugs & Therapeutics for Tetralogy of Fallot

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

(show top 50)    (show all 53)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactoneapprovedPhase 42221952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
2
EplerenoneapprovedPhase 494107724-20-9150310, 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
3HormonesPhase 413979
4Natriuretic AgentsPhase 4, Phase 2, Phase 31645
5diureticsPhase 4, Phase 2, Phase 31372
6MineralocorticoidsPhase 4352
7Mineralocorticoid Receptor AntagonistsPhase 4333
8Hormone AntagonistsPhase 412778
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
10Diuretics, Potassium SparingPhase 41827
11Natriuretic Peptide, BrainPhase 2, Phase 3178
12
LosartanapprovedPhase 2282114798-26-43961
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
13Antihypertensive AgentsPhase 24095
14Anti-Arrhythmia AgentsPhase 22969
15
Angiotensin IIPhase 2116268521-88-0, 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
16AngiotensinogenPhase 21161
17Angiotensin II Type 1 Receptor BlockersPhase 21078
18Angiotensin Receptor AntagonistsPhase 21173
19
Dexmedetomidineapproved, vet_approvedPhase 154076631-46-4, 113775-47-668602, 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)
Dexmedetomidinum
Dexmédétomidine
MPV 1440
MPV-1440
Medetomidina [Spanish]
Medetomidine
Medetomidinum [Latin]
NCGC00025347-01
PRECEDEX
Precedex (TN)
Tocris-2023
ZINC04632106
20Peripheral Nervous System AgentsPhase 122776
21Neurotransmitter AgentsPhase 117734
22Central Nervous System DepressantsPhase 112806
23Analgesics, Non-NarcoticPhase 16260
24Hypnotics and SedativesPhase 12485
25Adrenergic AgentsPhase 15140
26Adrenergic AgonistsPhase 12877
27Adrenergic alpha-2 Receptor AgonistsPhase 1911
28Adrenergic alpha-AgonistsPhase 11625
29AnalgesicsPhase 111287
30
Nitric Oxideapproved59910102-43-9145068
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)
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
31
Fentanylapproved, illicit, investigational, vet_approved773437-38-73345
Synonyms:
1-Phenethyl-4-(N-phenylpropionamido)piperidine
1-Phenethyl-4-N-propionylanilinopiperidine
1-phenethyl-4-N-propionylanilinopiperidine
437-38-7
5-22-08-00049 (Beilstein Handbook Reference)
80832-90-2
990-73-8 (citrate)
AC1L1FQ2
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]
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HSDB 3329
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N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide
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N-phenethyl-4-(N-propionylanilino)piperidine
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N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
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Oprea1_152073
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PDSP1_000860
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Pentanyl
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Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)
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Rapinyl
Sentonil
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fentanyl
32
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(+-)-4-(2-((3-(p-Hydroxyphenyl)-1-methylpropyl)amino)ethyl)pyrocatechol
3,4-Dihydroxy-N-[3-(4-hydroxyphenyl)-1-methylpropyl]-beta-phenylethylamine
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34368-04-2
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SPBio_002364
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33Antioxidants2928
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44Calcium, Dietary5525
45Bone Density Conservation Agents3266
46Adrenergic beta-Agonists1640
47Adjuvants, Anesthesia1588
48Anesthetics, Intravenous2406
49Analgesics, Opioid3091
50Anesthetics9001

Interventional clinical trials:

(show all 50)
idNameStatusNCT IDPhase
1Myocardial Protection and Clinical Outcome in Patients Undergoing Tetralogy of Fallot Repair : A Randomized Study of Two Different Cardioplegia TechniqueCompletedNCT02646254Phase 4
2COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve DysfunctionNot yet recruitingNCT02987387Phase 4
3The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart DiseaseTerminatedNCT01971593Phase 4
4Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of FallotRecruitingNCT01941576Phase 2, Phase 3
5Multi-center Trial of Percutaneous Pulmonary Valve Implantation With Venus-pRecruitingNCT02590679Phase 2, Phase 3
6The Medtronic Harmony™ Transcatheter Pulmonary Valve Clinical StudyRecruitingNCT02979587Phase 3
7Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve DysfunctionRecruitingNCT02744677Phase 3
8Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of FallotTerminatedNCT00564993Phase 3
9Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone SystemRecruitingNCT02010905Phase 2
10Understanding Dexmedetomidine In Infants Post-Operative From Cardiac SurgeryCompletedNCT00573066Phase 1
11Understanding Dexmedetomidine in Neonates After Open Heart SurgeryCompletedNCT00576381Phase 1
12A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and PharmacokineticsRecruitingNCT01915277Phase 1
13Biomodel in Tetralogy of FallotUnknown statusNCT00155428
14Pilot Study of Inhaled Nitric Oxide to Treat Pulmonary Insufficiency in Congenital Heart DiseaseUnknown statusNCT00543933
15Follow up of Post-repair Tetralogy of FallotCompletedNCT00266188
16Early Re-intervention in Infants and Small Children After Correction of Tetralogy of FallotCompletedNCT00536432
17Tetralogy of Fallot Seed GrantCompletedNCT00722826
18Comparison of Two Pulmonary Valve Replacement Methods to Treat Tetralogy of FallotCompletedNCT00112320
19Right Ventricular Contractility Reserve Following Repair of Tetralogy of FallotCompletedNCT00557934
20Assessment of Right Ventricular Volume in Tetralogy of Fallott (TOF) PatientsCompletedNCT01419756
21Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRICompletedNCT00489788
22Early Revalvulation After Fallot Repair Improves Clinical OutcomeCompletedNCT02534792
23Retrospective Pulmonary Valve Replacement ImagingCompletedNCT00446108
24Myocardial Contrast Echocardiography in Congenital Heart DiseaseCompletedNCT00412685
25MRI Assessment of RV Function: Patients With TOF or Aortic CoarctationCompletedNCT00277901
26Measures to Lower the Stress Response in Pediatric Cardiac SurgeryCompletedNCT00848393
27Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
28Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
29Quality of Life in Young Adults With Congenital Heart DiseaseCompletedNCT02463292
30Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP)CompletedNCT00308230
31Reproduction and Survival After Cardiac Defect RepairCompletedNCT00005190
32Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental OutcomeCompletedNCT00713635
33Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of FallotRecruitingNCT02186691
34Exercise Training in Adults With Corrected Tetralogy of FallotRecruitingNCT02643810
35Tetralogy of Fallot for LifeRecruitingNCT02968264
36Effects of Changes in Fluid Status on Right Ventricular Volumes and FunctionRecruitingNCT02967315
37Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic ResonanceRecruitingNCT02161471
38Calcium Current in Human Heart CellsRecruitingNCT00243776
39Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect PatientsRecruitingNCT02861963
40T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
41Study of the Native Outflow Tract Transcatheter Pulmonary Valve (TPV)Active, not recruitingNCT01762124
42Pulmonary Artery Repair With Covered StentsActive, not recruitingNCT01824160
43Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract ReconstructionActive, not recruitingNCT02700100
44Melody Transcatheter Pulmonary Valve Study: Post Approval Study of the Original IDE CohortActive, not recruitingNCT00740870
45Retrospective Review of Anesthetic Considerations for Pulmonary Artery RehabilitationEnrolling by invitationNCT02586740
464D Velocity Mapping of the Heart in rTOF PatientsNot yet recruitingNCT02980614
47Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility StudyNot yet recruitingNCT03022708
48Examining Developmental Changes in Heart Contractions of Children With Congenital Heart DefectsTerminatedNCT00860327
49Optimal Timing for Repair of Right-to-Left Shunt LesionsTerminatedNCT00268099
50Adult 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 Fallot27 24 GATA6, GDF1, JAG1, NKX2-5, ZFPM2

Anatomical Context for Tetralogy of Fallot

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MalaCards organs/tissues related to Tetralogy of Fallot:

36
Heart, Skin, Lung, Brain, Bone, Testes, Trachea

Publications for Tetralogy of Fallot

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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 885)
idTitleAuthorsYear
1
Unexpected Internalization of a Pulmonary Artery Band in a Porcine Model of Tetralogy of Fallot. (28033087)
2017
2
The Role of Conventional and Right-Sided ECG Screening for Subcutaneous ICD in a Tetralogy of Fallot Population. (28070890)
2017
3
Postsystolic Shortening Is Associated with Altered Right Ventricular Function in Children after Tetralogy of Fallot Surgical Repair. (28046050)
2017
4
Valve-Sparing or Valve Reconstruction Options in Tetralogy of Fallot Surgery. (28007071)
2017
5
Cardiac Magnetic Resonance Feature Tracking Biventricular Two-Dimensional and Three-Dimensional Strains to Evaluate Ventricular Function in Children After Repaired Tetralogy of Fallot as Compared with Healthy Children. (28058478)
2017
6
Main pulmonary artery cross-section ratio is low in fetuses with tetralogy of Fallot and ductus arteriosus-dependent pulmonary circulation. (28077176)
2017
7
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
8
Minimally Invasive Esophagectomy in a Patient With Tetralogy of Fallot and Right-Sided Aortic Arch. (28007281)
2017
9
At what age should tetralogy of Fallot be corrected? (28077181)
2017
10
Basic arterial blood gas biomarkers as a predictor of mortality in tetralogy of Fallot patients. (28074799)
2017
11
Right ventricular speckle tracking echocardiography: A new tool for decision-making after surgical repair of tetralogy of Fallot? (27988228)
2017
12
The role of blood lactate clearance as a predictor of mortality in children undergoing surgery for tetralogy of Fallot. (27052060)
2016
13
Correlating the morphological features of tetralogy of Fallot and the Eisenmenger malformation. (27056173)
2016
14
QRS fragmentation in tetralogy of Fallot: clinical utility and risk prediction. (27934632)
2016
15
One-stop" hybrid approach to surgical correction of Tetralogy of Fallot with a 37-year left classic Blalock-Taussig shunt. (27522268)
2016
16
Perioperative echocardiography-derived right ventricle function parameters and early outcomes after tetralogy of Fallot repair in mid-childhood: a single-center, prospective observational study. (27528445)
2016
17
Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis. (27258177)
2016
18
Tetralogy of Fallot and pheochromocytoma in a situs inversus totalis: An unusual association. (27777699)
2016
19
High-Dose Methylprednisolone Has No Benefit Over Moderate Dose for the Correction of Tetralogy of Fallot. (27154159)
2016
20
Systemic-Pulmonary Shunt Facilitates the Growth of the Pulmonary Valve Annulus in Patients With Tetralogy of Fallot. (27496626)
2016
21
Postoperative residua and sequelae in adults with repaired tetralogy of Fallot. (27116601)
2016
22
Detection of pulmonary and coronary artery anomalies in tetralogy of Fallot using non-ECG-gated CT angiography. (27117041)
2016
23
Late gadolinium enhancement and adverse outcomes in a contemporary cohort of adult survivors of tetralogy of Fallot. (27553872)
2016
24
Surgical repair of a complete atrioventricular septal defect with tetralogy of Fallot using a classical one-patch technique and pulmonary valve preservation. (27681859)
2016
25
Noninvasive Assessment of Vascular Function in Postoperative Cardiovascular Disease (Coarctation of the Aorta, Tetralogy of Fallot, and Transposition of the Great Arteries). (27401272)
2016
26
Long-Term Outcome of Patients With Complete Atrioventricular Septal Defect Combined With the Tetralogy of Fallot: Staged Repair Is Not Inferior to PrimaryA Repair. (27692233)
2016
27
Palliative balloon dilation of pulmonic stenosis in a dog with tetralogy of Fallot. (27025569)
2016
28
Initial Research on Postoperative Management of Tetralogy of Fallot with Major Aortopulmonary Collaterals. (27120328)
2016
29
Right Ventricular Outflow Tract Stenting in Tetralogy of Fallot Infants With Risk Factors for Early Primary Repair. (27965298)
2016
30
A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus. (27200165)
2016
31
Left and right ventricular dyssynchrony and strains from cardiovascular magnetic resonance feature tracking do not predict deterioration of ventricular function in patients with repaired tetralogy of Fallot. (27549809)
2016
32
Tracheoesophageal fistula repair in a neonate with tetralogy of Fallot: An anesthetic challenge. (27625509)
2016
33
Right Ventricular Outflow Tract Stenting: The Ideal Palliative Option in the Management of High-Risk Cyanotic Infants With Tetralogy of Fallot? (27965299)
2016
34
Uteroplacental Doppler flow and pregnancy outcome in women with Tetralogy of Fallot. (27071979)
2016
35
Early Extubation After Repair of Tetralogy of Fallot and the Fontan Procedure: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. (27173073)
2016
36
Rare associations of tetralogy of Fallot with anomalous left coronary artery from pulmonary artery and totally anomalous pulmonary venous connection. (27056487)
2016
37
Defining and refining indications for transcatheter pulmonary valve replacement in patients with repaired tetralogy of Fallot: Contributions from anatomical and functional imaging. (27441469)
2016
38
Unrepaired Tetralogy of Fallot-related Pathophysiologic Changes Reduce Systemic Clearance of Etomidate in Children. (27537760)
2016
39
Role of right ventricular three-dimensional electroanatomic voltage mapping for arrhythmic risk stratification of patients with corrected tetralogy of Fallot or other congenital heart disease involving the right ventricular outflow tract. (27505328)
2016
40
Lactate, endothelin, and central venous oxygen saturation as predictors of mortality in patients with Tetralogy of Fallot. (27052068)
2016
41
PITX2 loss-of-function mutation contributes to tetralogy of Fallot. (26657035)
2016
42
Persistence of Retinopathy of Prematurity in an Infant with Tetralogy of Fallot. (27525147)
2016
43
Influence of Age and Weight on Technical Repair of Tetralogy of Fallot. (27154147)
2016
44
Diagnosis and follow-up of neonatal tetralogy of Fallot and hemitruncus with discontinuous pulmonary arteries noninvasively using awake ultra low-dose computed tomographic angiography. (27594935)
2016
45
HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot. (27942761)
2016
46
Tetralogy of Fallot and Its Variants. (27490619)
2016
47
The Right Ventricular Outflow Tract Reconstruction: A Challenge in Tetralogy of Fallot Repair. Is There a Right Way of Doing It? An Art or a Science? (28043463)
2016
48
Impact of surgical pulmonary valve replacement on ventricular mechanics in children with repaired tetralogy of Fallot. (28005218)
2016
49
Right ventricular global longitudinal strain in repaired tetralogy of Fallot. (27543374)
2016
50
Tetralogy of Fallot associated with multiple anomalies. (27651440)
2016

Variations for Tetralogy of Fallot

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

70 (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_067382rs387906816
6GDF1p.Gly162AspVAR_065333rs121434424
7GDF1p.Ser309ProVAR_065336rs864622513
8GDF1p.Pro312ThrVAR_065337
9JAG1p.Gly274AspVAR_013200rs28939668
10NKX2-5p.Glu21GlnVAR_038215rs104893904
11NKX2-5p.Gln22ProVAR_038216
12NKX2-5p.Arg216CysVAR_038239rs104893905
13NKX2-5p.Ala219ValVAR_038240rs104893902
14NKX2-5p.Ala323ThrVAR_038253
15ZFPM2p.Glu30GlyVAR_017942rs121908601
16ZFPM2p.Ser657GlyVAR_017943rs28374544
17ZFPM2p.Met544IleVAR_072075rs187043152

Clinvar genetic disease variations for Tetralogy of Fallot:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1NOTCH1NM_017617.4(NOTCH1): c.578G> A (p.Gly193Asp)SNVPathogenicrs774966208GRCh37Chr 9, 139417466: 139417466
2EPHB4NM_004444.4(EPHB4): c.980C> T (p.Pro327Leu)SNVLikely pathogenicrs1057515420GRCh37Chr 7, 100417496: 100417496
3GATA4NM_002052.4(GATA4): c.487C> T (p.Pro163Ser)SNVPathogenicrs387906769GRCh37Chr 8, 11566308: 11566308
4GATA4NM_002052.4(GATA4): c.1220C> A (p.Pro407Gln)SNVPathogenicrs115099192GRCh37Chr 8, 11615875: 11615875
5GATA4GATA4, 3-BP INS, 354GCCinsertionPathogenicChr na, -1: -1
6GATA6NM_005257.5(GATA6): c.592C> G (p.Leu198Val)SNVPathogenicrs387906814GRCh37Chr 18, 19751697: 19751697
7GATA6NM_005257.5(GATA6): c.551G> A (p.Ser184Asn)SNVPathogenicrs387906816GRCh37Chr 18, 19751656: 19751656
8ZFPM2NM_012082.3(ZFPM2): c.1632G> A (p.Met544Ile)SNVPathogenicrs187043152GRCh38Chr 8, 105801714: 105801714
9ZFPM2NM_012082.3(ZFPM2): c.1969A> G (p.Ser657Gly)SNVPathogenicrs28374544GRCh37Chr 8, 106814279: 106814279
10ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)SNVPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
11GDF1NM_001492.5(GDF1): c.485G> A (p.Gly162Asp)SNVPathogenicrs121434424GRCh37Chr 19, 18980040: 18980040
12TBX1TBX1, 30-BP DUP, NT1399duplicationPathogenicChr na, -1: -1
13JAG1NM_000214.2(JAG1): c.821G> A (p.Gly274Asp)SNVPathogenicrs28939668GRCh37Chr 20, 10633181: 10633181
14NKX2-5NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys)SNVPathogenicrs104893905GRCh37Chr 5, 172659901: 172659901
15NKX2-5NM_004387.3(NKX2-5): c.656C> T (p.Ala219Val)SNVPathogenicrs104893902GRCh37Chr 5, 172659891: 172659891
16GATA4NM_002052.4(GATA4): c.1273G> A (p.Asp425Asn)SNVPathogenicrs56208331GRCh37Chr 8, 11615928: 11615928

Copy number variations for Tetralogy of Fallot from CNVD:

6 (show top 50)    (show all 82)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1180241143590972147572692DeletionGJA5Tetralogy of Fallot
2182401144643825146273899DeletionTetralogy of Fallot
3182411144643825146311415DeletionTetralogy of Fallot
4182421144643825146395961DeletionTetralogy of Fallot
5184561145700719145711066DeletionTetralogy of Fallot
6272861206337728206399274DeletionTetralogy of Fallot
7282251220214502221265766DeletionDISP1Tetralogy of Fallot
8299081237983869238365506DeletionCHRM3Tetralogy of Fallot
93227013513892135758859DeletionSFPQTetralogy of Fallot
104915211103542068104794260DeletionCASP1Tetralogy of Fallot
114915311103542068104794260DeletionCASP4Tetralogy of Fallot
124915411103542068104794260DeletionCASP5Tetralogy of Fallot
136422912125358126126151370DeletionTetralogy of Fallot
1466885123343231434007723DeletionTetralogy of Fallot
1570508126284370462921993DeletionC12orf66Tetralogy of Fallot
167427713103096790103922205DeletionTetralogy of Fallot
1776408133108649735813387DeletionPDS5BTetralogy of Fallot
1876409133108649735813387DeletionSPG20Tetralogy of Fallot
1976410133108649735813387DeletionbNBEATetralogy of Fallot
2076685133496014334980763DeletionNBEATetralogy of Fallot
2177291134200935442564700DeletionTNFSF11Tetralogy of Fallot
2299945162948753530085309DeletionHIRIP3Tetralogy of Fallot
2399946162948753530085309DeletioncMAPK3Tetralogy of Fallot
24105835168306686983082922DeletionKIAA1609Tetralogy of Fallot
25108016171829611718991652DeletionFOXO3BTetralogy of Fallot
26110245173161040733552902DeletionHNF1BTetralogy of Fallot
2711171117366915910860DeletionNXNTetralogy of Fallot
281151891755288986196702DeletionTetralogy of Fallot
29122847186211882662372859DeletionCDH19Tetralogy of Fallot
30123196186920765272613723DeletionCNDP2Tetralogy of Fallot
31123435187261431976116030DeletionPARD6GTetralogy of Fallot
32123436187261431976116030DeletioncNFATC1Tetralogy of Fallot
3312635619183496989223DeletionCNN2Tetralogy of Fallot
3412635719183496989223DeletionFSTL3Tetralogy of Fallot
3512635819183496989223DeletionPTBP1Tetralogy of Fallot
361271071925000483208416DeletionGNA11Tetralogy of Fallot
371271081925000483208416DeletionS1PR4Tetralogy of Fallot
38128034193890259138929184DeletionCHST8Tetralogy of Fallot
39132130195780787258437550DeletionZNF347Tetralogy of Fallot
401365322131194418132021416DeletionARHGEF4Tetralogy of Fallot
411379302154772039156750900DeletionTetralogy of Fallot
421381472158961179159012386DeletionCCDC148Tetralogy of Fallot
431398132188273007188973872DeletionTetralogy of Fallot
441416952215266200215351867DeletionBARD1Tetralogy of Fallot
4514480122941823430987444DeletionLBHTetralogy of Fallot
4615027929798266298531050DeletionTetralogy of Fallot
47157649212028240520842782DeletionTetralogy of Fallot
48158107212960748230244785DeletionTetralogy of Fallot
49160268221180000024300000MicrodeletionTetralogy of fallot
50160563221599651016081372DeletionCECR5Tetralogy of Fallot

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:000565410.5GATA4, GATA5, GATA6, HAND1, HEY2, ISL1
2RNA polymerase II transcription factor complexGO:009057510.3GATA4, HAND1, NKX2-5
3nucleusGO:00056349.8CITED2, GATA4, GATA5, GATA6, HAND1, HEY2

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

(show top 50)    (show all 100)
idNameGO IDScoreTop Affiliating Genes
1atrioventricular node developmentGO:000316211.2NKX2-5, NOTCH1
2cardiac muscle cell proliferationGO:006003811.2NKX2-5, NOTCH1
3cardiac muscle tissue morphogenesisGO:005500811.2NKX2-5, NOTCH1
4aorta morphogenesisGO:003590911.2JAG1, TBX1
5cardiac conduction system developmentGO:000316111.2GJA5, NKX2-5
6atrial cardiac muscle cell developmentGO:005501411.2NKX2-5, NKX2-6
7bundle of His developmentGO:000316611.2NKX2-5, TBX5
8distal tubule developmentGO:007201711.2JAG1, NOTCH1
9adult heart developmentGO:000751211.1GJA1, NKX2-5
10embryonic heart tube left/right pattern formationGO:006097111.1CITED2, NKX2-5
11negative regulation of myotube differentiationGO:001083211.1NKX2-5, NOTCH1
12cell fate specificationGO:000170811.1NOTCH1, TBX1
13coronary artery morphogenesisGO:006098211.1NOTCH1, TBX1
14negative regulation of stem cell differentiationGO:200073711.1JAG1, NOTCH1
15cardiac muscle hypertrophy in response to stressGO:001489811.1GATA6, HEY2
16atrioventricular valve morphogenesisGO:000318111.1NOTCH1, TBX5
17atrial septum developmentGO:000328311.1GJA5, TBX5
18arterial endothelial cell differentiationGO:006084211.1HEY2, NOTCH1
19heart trabecula formationGO:006034711.1HEY2, NKX2-5
20atrial ventricular junction remodelingGO:000329411.1GJA1, GJA5
21cardiac epithelial to mesenchymal transitionGO:006031711.1HEY2, NOTCH1
22cardiac left ventricle morphogenesisGO:000321411.1HEY2, NOTCH1
23cardiac vascular smooth muscle cell developmentGO:006094811.1HEY2, NOTCH1
24left/right axis specificationGO:007098611.1CITED2, NOTCH1
25cell communication by chemical couplingGO:001064311.1GJA1, GJA5
26cell communication by electrical couplingGO:001064411.1GJA1, GJA5
27cell communication by electrical coupling involved in cardiac conductionGO:008606411.1GJA1, GJA5
28negative regulation of cardiac muscle cell apoptotic processGO:001066711.1HEY2, NKX2-5
29cardiac right ventricle formationGO:000321911.1HAND1, NOTCH1
30cardiac muscle tissue developmentGO:004873811.1GATA6, NKX2-5, ZFPM2
31endothelium developmentGO:000315811.1GJA1, GJA5
32gap junction assemblyGO:001626411.1GJA1, GJA5
33endocardial cushion morphogenesisGO:000320311.1ISL1, NOTCH1
34mesenchymal cell developmentGO:001403111.1HEY2, NOTCH1
35positive regulation of male gonad developmentGO:200002011.1CITED2, ZFPM2
36cardiac left ventricle formationGO:000321811.1HAND1, TBX5
37determination of heart left/right asymmetryGO:006137111.1CITED2, HAND1
38negative regulation of cardiac muscle cell proliferationGO:006004411.1GJA1, TBX5
39pericardium developmentGO:006003911.1NKX2-6, TBX5
40positive regulation of cell communication by chemical couplingGO:001065211.1GJA1, GJA5
41intestinal epithelial cell differentiationGO:006057511.1GATA4, GATA5, GATA6
42negative regulation of cell differentiationGO:004559611.1JAG1, NOTCH1, TBX1
43male gonad developmentGO:000858411.1CITED2, GATA4, GATA6
44liver developmentGO:000188911.1CITED2, GATA6, NOTCH1
45determination of left/right symmetryGO:000736811.1CITED2, NOTCH1, TBX1
46lung developmentGO:003032411.1NOTCH1, TBX5, ZFPM2
47positive regulation of BMP signaling pathwayGO:003051311.1GATA4, GATA6, NOTCH1
48heart morphogenesisGO:000300711.1ISL1, NKX2-5, TBX1
49embryonic limb morphogenesisGO:003032611.1GJA5, NOTCH1, TBX5
50negative regulation of neuron differentiationGO:004566511.0ISL1, JAG1, NOTCH1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:000511211.1JAG1, NOTCH1
2connexin bindingGO:007125311.1GJA1, GJA5
3gap junction channel activityGO:000524311.1GJA1, GJA5
4gap junction channel activity involved in cardiac conduction electrical couplingGO:008607511.1GJA1, GJA5
5transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370511.0GATA5, GATA6, NKX2-5
6enhancer sequence-specific DNA bindingGO:000115811.0GATA4, GATA5, ISL1
7RNA polymerase II transcription coactivator activityGO:000110511.0CITED2, ISL1, ZFPM2
8RNA polymerase II transcription factor bindingGO:000108511.0GATA4, GATA5, GATA6, ZFPM2
9RNA polymerase II activating transcription factor bindingGO:000110211.0CITED2, HEY2, ISL1
10RNA polymerase II regulatory region sequence-specific DNA bindingGO:000097711.0GATA4, GATA5, GATA6, TBX5
11transcriptional activator activity, RNA polymerase II transcription factor bindingGO:000119010.9NKX2-5, NOTCH1
12chromatin bindingGO:000368210.8CITED2, GATA4, GATA5, GATA6, ISL1, NKX2-5
13transcription regulatory region DNA bindingGO:004421210.7GATA4, GATA5, GATA6, HAND1, NKX2-5
14transcription factor bindingGO:000813410.6GATA4, GATA6, HAND1, HEY2, NKX2-5, TBX5
15DNA bindingGO:000367710.6GATA4, GATA5, GATA6, HAND1, HEY2, ISL1
16sequence-specific DNA bindingGO:004356510.5GATA4, GATA6, HAND1, HEY2, ISL1, NKX2-5
17transcription factor activity, sequence-specific DNA bindingGO:000370010.4CITED2, GATA4, GATA5, GATA6, HEY2, NKX2-5
18transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122810.1GATA4, GATA5, GATA6, NKX2-5, TBX5

Sources for Tetralogy of Fallot

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
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41MGI
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