MCID: TTR001
MIFTS: 69

Tetralogy of Fallot malady

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

Aliases & Classifications for Tetralogy of Fallot

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 37MeSH, 25GTR, 28ICD10, 30ICD9CM, 43NCIt, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Tetralogy of Fallot:

Name: Tetralogy of Fallot 50 11 46 23 13 52 68 12 37
Fallot Tetralogy 46 25
Tof 46 68
 
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 11
Tetrology of Fallot 50

Characteristics:

Orphanet epidemiological data:

52
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:

62
tetralogy of fallot:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 187500
Disease Ontology11 DOID:6419
ICD1028 Q21.3
ICD9CM30 745.2
MeSH37 D013771
NCIt43 C84505
Orphanet52 ORPHA3303
ICD10 via Orphanet29 Q21.3
MESH via Orphanet38 D013771
UMLS via Orphanet67 C0039685
MedGen35 C0039685

Summaries for Tetralogy of Fallot

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NIH Rare Diseases:46 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 holt-oram syndrome and ventricular septal defect 1, 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, lung and skin, and related mouse phenotypes are craniofacial and digestive/alimentary.

UniProtKB/Swiss-Prot:68 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:69 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:50 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 200)
idRelated DiseaseScoreTop Affiliating Genes
1holt-oram syndrome31.0TBX1, TBX5
2ventricular septal defect 130.4AVSD1, FEZF2, GATA4
3tetralogy of fallot and glaucoma12.2
4complete atrioventricular canal-fallot tetralogy syndrome12.2
5duodenal atresia tetralogy of fallot12.2
6hypertelorism and tetralogy of fallot12.2
7straddling and/or overriding mitral valve11.0GATA4, GATA6
8partial duplication of the short arm of chromosome x10.9GATA4, GATA6
9joubert syndrome 1310.9NKX2-5, TBX1, TBX5
10second-degree atrioventricular block10.9GATA4, NKX2-5, TBX5
11cor triatriatum10.8
12digeorge syndrome10.8
13ichthyosis lamellar 210.8GATA5, GJA1, NKX2-5
14takayasu arteritis10.8HEY2, ZFPM2
15pituitary adenoma10.7GATA4, GATA6, ZFPM2
16drug-induced vasculitis10.7GATA4, ZFPM2
17atrioventricular septal defect10.6
18ventricular septal defect10.5
19beta-ureidopropionase deficiency10.5CTHM, DGCR, GDF1, TBX1, UFD1L
20complete atrioventricular canal10.5
21macroglossia10.4GATA4, GDF1, NKX2-5, NKX2-6
22pancreatic serous cystadenocarcinoma10.4GATA4, GATA6, NKX2-6, TBX5
23right bundle branch block10.4
24cervical adenoid basal carcinoma10.4GATA4, NKX2-6, TBX5
25pericardium disease10.4GATA6, GDF1, NKX2-6
26aortopulmonary window10.4
27viral hepatitis10.4GATA4, GDF1, NKX2-5, NKX2-6, TBX5
28right aortic arch10.4
29pulmonic stenosis10.3
30testicular trophoblastic tumor10.3GJA1, HEY2, JAG1, NKX2-6
31adams-oliver syndrome10.3GATA5, GJA5, TBX5
32pulmonary atresia with ventricular septal defect10.3
33dhdds-cdg10.3GATA4, GATA6, GDF1, NKX2-5, NKX2-6, TBX1
34endocarditis10.3
35heart disease10.3
36congenital heart disease10.3
37cardiomyopathy10.3
38vitelliform macular dystrophy10.3GATA4, GATA5, GATA6, GJA5, NKX2-5, NKX2-6
39fetal alcohol syndrome10.3GATA4, GATA6, GDF1, GJA1, NKX2-5, NKX2-6
40aneurysm10.3
41double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis10.3
42pyelonephritis10.3GATA4, GATA5, NKX2-5, NKX2-6
43dextrocardia10.2
44transposition of the great arteries10.2
45testicular anomalies with or without congenital heart disease10.1AVSD1, FEZF2, GATA4
46pulmonary valve stenosis10.1
47situs inversus10.1
48pentalogy of cantrell10.1
49adams-oliver syndrome 110.1
50ventricular septal defect 310.1

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:

 52 (show all 12)
  • cryptorchidism
  • thin vermilion border
  • dolichocephaly
  • broad forehead
  • proptosis
  • brachydactyly syndrome
  • intrauterine growth retardation
  • tetralogy of fallot
  • clinodactyly of the 5th finger
  • preauricular pit
  • abnormal nasal morphology
  • underdeveloped supraorbital ridges

HPO human phenotypes related to Tetralogy of Fallot:

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

Drugs & Therapeutics for Tetralogy of Fallot

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1diureticsPhase 4, Phase 2, Phase 31338
2
SpironolactonePhase 42171952-01-7, 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
3
EplerenonePhase 492107724-20-9150310, 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
4
LosartanPhase 2281114798-26-43961
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
5
angiotensin IIPhase 2113568521-88-0, 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
6
DexmedetomidinePhase 151576631-46-4, 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
7
Fentanyl739437-38-73345
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
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 [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
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
UNII-UF599785JZ
fentanyl
8
Dobutamine11134368-04-236811
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
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
9
Citric Acid106377-92-9311
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
10
Nitric Oxide58510102-43-9145068
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
11CitrateNutraceutical1063

Interventional clinical trials:

(show all 44)
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 DysfunctionRecruitingNCT02744677Phase 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
27Quality of Life in Young Adults With Congenital Heart DiseaseCompletedNCT02463292
28Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of FallotRecruitingNCT02186691
29Biomodel in Tetralogy of FallotRecruitingNCT00155428
30Exercise Training in Adults With Corrected Tetralogy of FallotRecruitingNCT02643810
31Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic ResonanceRecruitingNCT02161471
32Early Revalvulation After Fallot Repair Improves Clinical OutcomeRecruitingNCT02534792
33Calcium Current in Human Heart CellsRecruitingNCT00243776
34Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect PatientsRecruitingNCT02861963
35T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
36Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract ReconstructionRecruitingNCT02700100
37Pulmonary Artery Repair With Covered StentsActive, not recruitingNCT01824160
38Study of the Native Outflow Tract Transcatheter Pulmonary Valve (TPV)Active, not recruitingNCT01762124
39Melody Transcatheter Pulmonary Valve Study: Post Approval Study of the Original IDE CohortActive, not recruitingNCT00740870
40Pilot Study of Inhaled Nitric Oxide to Treat Pulmonary Insufficiency in Congenital Heart DiseaseActive, not recruitingNCT00543933
41Retrospective Review of Anesthetic Considerations for Pulmonary Artery RehabilitationEnrolling by invitationNCT02586740
42Examining Developmental Changes in Heart Contractions of Children With Congenital Heart DefectsTerminatedNCT00860327
43Optimal Timing for Repair of Right-to-Left Shunt LesionsTerminatedNCT00268099
44Adult 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 Fallot25 23 GDF1, NKX2-5

Anatomical Context for Tetralogy of Fallot

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MalaCards organs/tissues related to Tetralogy of Fallot:

34
Heart, Lung, Skin, Brain, Testes, Trachea, Placenta

Animal Models for Tetralogy of Fallot or affiliated genes

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MGI Mouse Phenotypes related to Tetralogy of Fallot:

39 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.5CITED2, FEZF2, GDF1, GJA1, HEY2, JAG1
2MP:000538110.3CITED2, GATA4, GATA5, GDF1, GJA5, JAG1
3MP:000536910.1GATA4, GATA5, GATA6, GJA1, GJA5, HEY2
4MP:000538410.1CITED2, FEZF2, GATA4, GATA5, GATA6, GDF1
5MP:000538010.1CITED2, GATA4, GATA6, GDF1, GJA1, HEY2
6MP:000538810.1CITED2, FEZF2, GATA4, GATA6, GDF1, GJA1
7MP:000539010.0CITED2, GATA4, GATA5, GDF1, GJA1, JAG1
8MP:000537910.0CITED2, GATA4, GATA5, GDF1, GJA1, GJA5
9MP:00028739.8CITED2, GATA4, GATA6, GDF1, GJA1, GJA5
10MP:00053719.8CITED2, GATA4, GATA6, GJA1, TBX1, TBX5
11MP:00053789.7CITED2, FEZF2, GATA4, GATA6, GDF1, GJA1
12MP:00107689.7CITED2, FEZF2, GATA4, GATA5, GATA6, GDF1
13MP:00053859.7CITED2, GATA4, GATA5, GATA6, GDF1, GJA1
14MP:00053769.6CITED2, GATA4, GATA5, GATA6, GJA1, GJA5

Publications for Tetralogy of Fallot

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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 861)
idTitleAuthorsYear
1
The role of blood lactate clearance as a predictor of mortality in children undergoing surgery for tetralogy of Fallot. (27052060)
2016
2
Correlating the morphological features of tetralogy of Fallot and the Eisenmenger malformation. (27056173)
2016
3
Aortic Coarctation Diagnosed During Pregnancy in a Woman With Repaired Tetralogy of Fallot. (26354665)
2015
4
Development of a novel hybrid strategy for transcatheter pulmonary valve placement in patients following transannular patch repair of tetralogy of fallot. (26527499)
2015
5
Rationale and Design of the Canadian Outcomes Registry Late After Tetralogy of Fallot Repair: The CORRELATE Study. (25239650)
2014
6
Functional analysis of the anatomical right ventricular components: should assessment of right ventricular function after repair of tetralogy of Fallot be refined? (24186927)
2014
7
Neurohormonal activation and its relation to outcomes late after repair of tetralogy of Fallot. (25351509)
2014
8
Anomalous right coronary from aortopulmonary window in tetralogy of Fallot. (24848518)
2014
9
Elevated plasma B-type natriuretic peptide and C-reactive protein levels in children with restrictive right ventricular physiology following tetralogy of Fallot repair. (24521195)
2014
10
Valve-sparing tetralogy of Fallot repair with intraoperative dilation of the pulmonary valve. (23179422)
2013
11
Altered diastolic left atrial and ventricular performance in asymptomatic patients after repair of tetralogy of Fallot. (23179427)
2013
12
Physiological and phenotypic characteristics of late survivors of tetralogy of fallot repair who are free from pulmonary valve replacement. (24065608)
2013
13
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
14
Left Ventricular Mechanics in Repaired Tetralogy of Fallot with and without Pulmonary Valve Replacement: Analysis by Three-Dimensional Speckle Tracking Echocardiography. (24223166)
2013
15
Primary repair of tetralogy of Fallot in infants: Transatrial/transpulmonary or transventricular approach. (24054755)
2013
16
Stenting right ventricular outflow in an infant with tetralogy of Fallot and well-developed pulmonary arteries. (22476604)
2013
17
The role of cardiac catheterisation in patients with tetralogy of Fallot. (24401262)
2013
18
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. (23623288)
2013
19
Intersurgeon variability in long-term outcomes after transatrial repair of tetralogy of Fallot: 25 years' experience with 675 patients. (24332672)
2013
20
Characteristics and hemodynamic effects of extubation failure in children undergoing complete repair for tetralogy of Fallot. (23463132)
2013
21
MicroRNA deregulation in right ventricular outflow tract myocardium in nonsyndromic tetralogy of fallot. (24140236)
2013
22
Value of Speckle Tracking for the Assessment of Right Ventricular Function in Patients Operated on for Tetralogy of Fallot. Comparison with Magnetic Resonance Imaging. (24128179)
2013
23
Assessment of a right-ventricular infundibulum-sparing approach in transatrial-transpulmonary repair of tetralogy of Fallot. (21592812)
2012
24
Tetralogy of Fallot: fetal diagnosis to surgical correction. (22992529)
2012
25
Outcome after repair of atrioventricular septal defect with tetralogy of Fallot. (21855095)
2012
26
Postoperative tetralogy of fallot with concomitant atrial fibrillation and ventricular tachycardia. (22808576)
2012
27
Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot. (22314278)
2012
28
The cause of B-type natriuretic peptide elevation and the dose-dependent effect of angiotensin-converting enzyme inhibitor on patients late after tetralogy of Fallot repair. (22271387)
2012
29
Pulmonary tuberculosis in an adult patient with tetralogy of Fallot. (23935302)
2012
30
Relation of fragmented QRS complex to right ventricular fibrosis detected by late gadolinium enhancement cardiac magnetic resonance in adults with repaired tetralogy of fallot. (21962997)
2012
31
Exercise capacity and ventricular function in patients treated for isolated pulmonary valve stenosis or tetralogy of Fallot. (22871643)
2012
32
A statistical model for quantification and prediction of cardiac remodelling: application to tetralogy of Fallot. (21880565)
2011
33
Corrected tetralogy of Fallot: comparison of tissue doppler imaging and velocity-encoded MR for assessment of performance and temporal activation of right ventricle. (21460029)
2011
34
Magnetic resonance imaging findings of absent pulmonary valve syndrome associated with tetralogy of fallot. (21833595)
2011
35
Percutaneous implantation of an Edwards SAPIEN valve in a failing pulmonary bioprosthesis in palliated tetralogy of Fallot. (21273203)
2011
36
The comparison of the effect of three anesthetic induction regimens on the arterial oxygen saturation in children with tetralogy of fallot undergoing cardiac surgery. (22737408)
2011
37
Tetralogy of fallot with persistent fifth aortic arch: echocardiographic diagnosis. (19902134)
2010
38
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
39
Effects of volume and/or pressure overload secondary to congenital heart disease (tetralogy of fallot or pulmonary stenosis) on right ventricular function using cardiovascular magnetic resonance and B-type natriuretic peptide levels. (16563914)
2006
40
A female with complete lack of MA1llerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? (15266619)
2004
41
Successful primary correction of tetralogy of fallot with pulmonary atresia and aortopulmonary window in a 2,220-g neonate with a valved bovine jugular vein conduit. (15580326)
2004
42
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
43
Branch pulmonary artery growth after blalock-taussig shunts in tetralogy of fallot and pulmonary atresia with ventricular septal defect: a retrospective, echocardiographic study. (10441692)
1999
44
Plasma concentrations of atrial and brain natriuretic peptides and cyclic guanosine monophosphate in response to dobutamine infusion in patients with surgically repaired tetralogy of fallot. (10441688)
1999
45
Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. (9930496)
1998
46
Expression of proto-oncogenes, genes for muscle specific isoforms and heat shock protein (HSP) -70 gene in hypertrophied cardiac muscles from patients with atrial septal defect or tetralogy of Fallot. (7833841)
1994
47
Repair of complete atrioventricular septal defect with tetralogy of Fallot. (2400260)
1990
48
Complete atrioventricular canal associated with tetralogy of Fallot. (3566399)
1987
49
The surgery of tetralogy of Fallot, pulmonary atresia with ventricular septal defect and transposition of the great vessels. (5711069)
1968
50
Observations on 26 infants under one year of age operated on for tetralogy of Fallot or tricuspid atresia. (14827636)
1951

Variations for Tetralogy of Fallot

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

68 (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_065336
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 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

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
1connexin complexGO:000592210.3GJA1, GJA5

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

(show top 50)    (show all 65)
idNameGO IDScoreTop Affiliating Genes
1atrial ventricular junction remodelingGO:000329411.1GJA1, GJA5
2positive regulation of cell communication by chemical couplingGO:001065211.1GJA1, GJA5
3atrial cardiac muscle cell developmentGO:005501411.1NKX2-5, NKX2-6
4bundle of His developmentGO:000316611.1NKX2-5, TBX5
5right ventricular cardiac muscle tissue morphogenesisGO:000322111.1NKX2-5, ZFPM2
6negative regulation of cardiac muscle cell proliferationGO:006004411.0GJA1, TBX5
7pharyngeal system developmentGO:006003711.0NKX2-5, NKX2-6, TBX1
8pulmonary valve morphogenesisGO:000318411.0HEY2, JAG1
9cardiac conduction system developmentGO:000316111.0GJA5, NKX2-5
10regulation of atrial cardiac muscle cell membrane depolarizationGO:006037111.0GJA1, GJA5
11positive regulation of cardioblast differentiationGO:005189111.0GATA4, GATA6, NKX2-5, TBX5
12regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037311.0GJA1, GJA5
13endothelium developmentGO:000315811.0GJA1, GJA5
14pericardium developmentGO:006003911.0NKX2-6, TBX5
15embryonic heart tube left/right pattern formationGO:006097111.0CITED2, NKX2-5
16cardiac right ventricle morphogenesisGO:000321510.9GATA4, HEY2, JAG1
17intestinal epithelial cell differentiationGO:006057510.9GATA4, GATA5, GATA6
18outflow tract septum morphogenesisGO:000314810.9GATA6, NKX2-5, TBX1, ZFPM2
19cardiac muscle tissue developmentGO:004873810.9GATA6, NKX2-5, ZFPM2
20ventricular cardiac muscle cell developmentGO:005501510.9HEY2, NKX2-5, NKX2-6
21cardiac muscle cell differentiationGO:005500710.9GATA4, GATA6, NKX2-5, TBX5
22gap junction assemblyGO:001626410.9GJA1, GJA5
23pulmonary artery morphogenesisGO:006115610.9CITED2, HEY2, JAG1
24endocardial cushion developmentGO:000319710.9CITED2, GATA4, TBX5
25cell fate commitmentGO:004516510.9GATA4, GATA5, GATA6, HEY2
26atrial septum developmentGO:000328310.9GJA5, TBX5
27positive regulation of cardiac muscle cell proliferationGO:006004510.8GATA6, HEY2, TBX5, ZFPM2
28cell communication by electrical couplingGO:001064410.8GJA1, GJA5
29cell communication by chemical couplingGO:001064310.8GJA1, GJA5
30Notch signaling involved in heart developmentGO:006131410.8HEY2, JAG1
31cell developmentGO:004846810.8GATA4, GATA5, GATA6, GDF1
32ventricular septum morphogenesisGO:006041210.8CITED2, GJA5, HEY2, NKX2-5, ZFPM2
33vasculogenesisGO:000157010.8CITED2, HEY2, NKX2-5, ZFPM2
34cardiac ventricle morphogenesisGO:000320810.7GATA4, HEY2, NKX2-5
35in utero embryonic developmentGO:000170110.7CITED2, GATA6, GJA1, ZFPM2
36cardiac septum morphogenesisGO:006041110.7CITED2, HEY2, JAG1
37embryonic heart tube developmentGO:003505010.7GJA1, GJA5, NKX2-5, NKX2-6
38atrial septum morphogenesisGO:006041310.7GATA4, GJA5, HEY2, NKX2-5, TBX5
39heart loopingGO:000194710.7CITED2, GATA4, GJA1, NKX2-5
40pattern specification processGO:000738910.7HEY2, TBX1, TBX5
41positive regulation of male gonad developmentGO:200002010.7CITED2, ZFPM2
42outflow tract morphogenesisGO:000315110.6CITED2, GJA5, HEY2, NKX2-5, TBX1
43blood vessel developmentGO:000156810.6CITED2, GJA5, HEY2, TBX1
44ventricular septum developmentGO:000328110.6CITED2, GATA4, GJA5, TBX5
45blood coagulationGO:000759610.3GATA4, GATA5, GATA6, ZFPM2
46positive regulation of transcription, DNA-templatedGO:004589310.3CITED2, FEZF2, GATA4, GATA5, GATA6, NKX2-5
47negative regulation of transcription, DNA-templatedGO:004589210.3CITED2, FEZF2, GATA6, HEY2, NKX2-5, ZFPM2
48heart developmentGO:00075079.9CITED2, GATA5, GJA1, GJA5, HEY2, NKX2-5
49positive regulation of transcription from RNA polymerase II promoterGO:00459449.8CITED2, FEZF2, GATA4, GATA5, GATA6, HEY2
50negative regulation of transcription from RNA polymerase II promoterGO:00001229.8CITED2, FEZF2, GATA6, HEY2, NKX2-5, ZFPM2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1gap junction channel activity involved in cardiac conduction electrical couplingGO:008607511.1GJA1, GJA5
2gap junction channel activityGO:000524311.0GJA1, GJA5
3enhancer sequence-specific DNA bindingGO:000115811.0GATA4, GATA5
4transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.8GATA5, GATA6, NKX2-5
5connexin bindingGO:007125310.8GJA1, GJA5
6RNA polymerase II transcription factor bindingGO:000108510.7GATA4, GATA5, GATA6, ZFPM2
7transcription regulatory region DNA bindingGO:004421210.6GATA4, GATA5, GATA6, NKX2-5
8RNA polymerase II regulatory region sequence-specific DNA bindingGO:000097710.4GATA4, GATA5, GATA6, TBX5
9transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122810.4FEZF2, GATA4, GATA5, GATA6, NKX2-5, TBX5
10chromatin bindingGO:000368210.1CITED2, FEZF2, GATA4, GATA5, GATA6, NKX2-5
11sequence-specific DNA bindingGO:004356510.1GATA4, GATA6, HEY2, NKX2-5, NKX2-6, TBX1
12transcription factor activity, sequence-specific DNA bindingGO:000370010.0CITED2, GATA4, GATA5, GATA6, HEY2, NKX2-5
13transcription factor bindingGO:00081349.8GATA4, GATA6, HEY2, NKX2-5, TBX5, ZFPM2

Sources for Tetralogy of Fallot

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet