Tetralogy of Fallot (TOF) malady

Cardiovascular, Fetal categories

Summaries for Tetralogy of Fallot

43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Tetralogy of Fallot, also known as fallot tetralogy, is related to atrioventricular septal defect and ventricular septal defect, and has symptoms including autosomal dominant inheritance, short hand/brachydactyly and dolichocephaly/scaphocephaly. An important gene associated with Tetralogy of Fallot is DGCR (DiGeorge syndrome chromosome region), and among its related pathways are HOP Signaling and Wnt / Hedgehog / Notch. The compounds nitric oxide and zinc have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and heart, and related mouse phenotypes are limbs/digits/tail and liver/biliary system.

Wikipedia:64 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:47 187500

Aliases & Classifications for Tetralogy of Fallot

8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 27ICD9CM, 57SNOMED-CT, 40NCIt, 35MeSH, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 25ICD10
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Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Cardiovascular

Characteristics (Orphanet epidemiological data):

tetralogy of fallot:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy

Aliases & Descriptions:

tetralogy of fallot 8 9 43 47 10 49
fallot tetralogy 43 22
atresia, dextraposition of aorta, and hypertrophy of right ventricle 8
ventricular septal defect with pulmonary stenosis 8
tetralogy of fallot, unspecified 8
tetralogy of fallot nos 8
tof 43

External Ids:

Disease Ontology8 DOID:6419
ICD9CM27 745.2
NCIt40 C84505
MeSH35 D013771
OMIM47 187500
ICD10 via Orphanet26 Q21.3
SNOMED-CT via Orphanet58 86299006
UMLS via Orphanet62 C0039685
MESH via Orphanet36 D013771
ICD1025 Q21.3

Related Diseases for Tetralogy of Fallot

17GeneCards, 18GeneDecks
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Diseases related to Tetralogy of Fallot via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 235)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular septal defect31.3NKX2-5, GATA4
2ventricular septal defect31.3NPPB, JAG1, GATA4, NKX2-5
3digeorge syndrome30.9TBX1, CTHM, DGCR, UFD1L
4patent ductus arteriosus30.7TBX1
5mckusick-kaufman syndrome30.4MKKS
6ebstein anomaly30.4TBX1
7holt-oram syndrome30.2TBX1
8polydactyly30.2MKKS, BBS2, BBS7
9noonan syndrome30.2NKX2-5, GATA4, NPPB
10velocardiofacial syndrome29.8UFD1L, TBX1
11complete atrioventricular canal10.8
12complete atrioventricular canal - fallot tetralogy10.8
13pulmonary function10.7
14aortopulmonary window10.7
15pulmonic stenosis10.6
17n syndrome10.6
18pulmonary valve insufficiency10.5
19left bundle branch hemiblock10.5
20tracheal stenosis10.4
21situs inversus10.4
22hypertrophic cardiomyopathy10.4
23subacute bacterial endocarditis10.4
24cor triatriatum10.4
25duodenal atresia tetralogy of fallot10.4
26tetralogy of fallot and glaucoma10.4
27hypertelorism and tetralogy of fallot10.4
28accessory tricuspid valve tissue10.4
29goldenhar syndrome10.3
30coronary aneurysm10.3
31discrete subaortic stenosis10.3
33constrictive pericarditis10.3
34aortic aneurysm10.3
36prune belly syndrome10.3
37aplasia cutis congenita10.3
38tricuspid atresia10.3
39coronary artery aneurysm10.3
40eisenmenger syndrome10.3
41hydrops fetalis10.3
42german syndrome10.3
43frontonasal dysplasia10.3
44macrocephaly-capillary malformation10.3
45pontocerebellar hypoplasia10.3
46single median maxillary central incisor10.3
47pulmonary valve agenesis10.3
48alcohol abuse10.2
49ischemic retinopathy10.2
50central retinal artery occlusion10.2

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

Diseases related to tetralogy of fallot

Clinical Features for Tetralogy of Fallot

47OMIM, 49Orphanet
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Clinical features from OMIM:



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

Drugs & Therapeutics for Tetralogy of Fallot

5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for 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

Anatomical Context for Tetralogy of Fallot

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MalaCards organs/tissues related to Tetralogy of Fallot:

Skin, Lung, Heart

Animal Models for Tetralogy of Fallot or affiliated genes

37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Tetralogy of Fallot:

37 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4VANGL2, BBS7, BBS2, CITED2, MKKS
2MP:000537010.4ZFPM2, GDF1, GATA6, GATA4, JAG1, BBS2
3MP:000536910.4NPPB, GATA5, NKX2-5, TBX1, GATA6, GATA4
4MP:000539010.4GDF1, VANGL2, JAG1, GATA4, TBX1, CITED2
5MP:000537910.4ZFPM2, GDF1, TBX1, CITED2, GATA5, GJA5
6MP:000538010.4BBS7, GDF1, HAND1, JAG1, GATA4, CITED2
7MP:000538210.4BBS7, GDF1, VANGL2, MKKS, TBX1, NKX2-5
8MP:000538110.3TBX1, GJA5, GDF1, VANGL2, CITED2, GATA5
9MP:000538810.3GJA5, FEZF2, GATA4, GATA6, CITED2, TBX1
10MP:000536710.3BBS2, JAG1, CITED2, VANGL2, GDF1, GATA5
11MP:000538410.3GATA6, GATA4, HAND1, CITED2, NKX2-5, ZFPM2
12MP:000287310.3UFD1L, HAND1, JAG1, GATA4, GATA6, CITED2
13MP:000539710.2CITED2, GDF1, GATA4, JAG1, VANGL2, TBX1
14MP:000301210.2GJA5, ZFPM2, VANGL2, JAG1, GATA4, NKX2-5
15MP:000537810.2GATA4, HAND1, BBS2, TBX1, JAG1, GATA6
16MP:000537610.2GJA5, MKKS, ZFPM2, BBS7, HAND1, JAG1
17MP:000363110.2GATA4, CITED2, BBS2, FEZF2, HAND1, JAG1
18MP:000538510.2GJA5, BBS7, NPPB, HAND1, JAG1, GATA4
19MP:000539110.2BBS7, BBS2, JAG1, CITED2, MKKS, VANGL2
20MP:001076810.1VANGL2, MKKS, TBX1, NKX2-5, CITED2, GATA5
21MP:000538910.0MKKS, BBS2, GATA4, GJA5, GATA5, ZFPM2
22MP:000539410.0FEZF2, MKKS, BBS2

Publications for Tetralogy of Fallot

Genetic Variations for Tetralogy of Fallot

Expression for genes affiliated with Tetralogy of Fallot

1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tetralogy of Fallot

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

Pathways for genes affiliated with Tetralogy of Fallot

52QIAGEN, 4Cell Signaling Technology, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Tetralogy of Fallot

45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nitric oxide45 11 2412.3GJA5, NKX2-5, GATA4, JAG1, NPPB
2zinc45 2410.9ZFPM2, NPPB, GATA4, GATA6, GATA5, NKX2-5

GO Terms for genes affiliated with Tetralogy of Fallot

16Gene Ontology
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Cellular components related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:03446410.4BBS2, BBS7

Biological processes related to Tetralogy of Fallot according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1right ventricular cardiac muscle tissue morphogenesisGO:00322110.8ZFPM2, NKX2-5
2embryonic heart tube left/right pattern formationGO:06097110.8CITED2, NKX2-5
3positive regulation of cardioblast differentiationGO:05189110.8GATA4, GATA6, NKX2-5
4pulmonary artery morphogenesisGO:06115610.8JAG1, CITED2
5intestinal epithelial cell differentiationGO:06057510.8GATA4, GATA6, GATA5
6atrial septum morphogenesisGO:06041310.8GATA4, NKX2-5, GJA5
7cardiac conduction system developmentGO:00316110.8NKX2-5, GJA5
8outflow tract septum morphogenesisGO:00314810.8GATA6, NKX2-5, TBX1, ZFPM2
9embryonic heart tube developmentGO:03505010.8GJA5, NKX2-5, HAND1
10negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.8BBS2, MKKS
11outflow tract morphogenesisGO:00315110.8CITED2, TBX1, GJA5
12pigment granule aggregation in cell centerGO:05187710.8BBS7, MKKS
13cardiac septum morphogenesisGO:06041110.8JAG1, HAND1
14positive regulation of male gonad developmentGO:200002010.8ZFPM2, CITED2
15ventricular septum morphogenesisGO:06041210.8CITED2, NKX2-5, ZFPM2, GJA5
16regulation of cilium beat frequency involved in ciliary motilityGO:06029610.8BBS2, MKKS
17response to estrogen stimulusGO:04362710.7GATA4, GATA6, CITED2
18nonmotile primary cilium assemblyGO:03505810.7VANGL2, MKKS
19melanosome transportGO:03240210.7BBS7, BBS2, MKKS
20determination of left/right symmetryGO:00736810.7MKKS, TBX1, CITED2, BBS7
21vasculogenesisGO:00157010.7ZFPM2, NKX2-5, CITED2
22endocardial cushion developmentGO:00319710.7GATA4, CITED2
23artery smooth muscle contractionGO:01482410.7BBS2, MKKS
24cilium morphogenesisGO:06027110.7MKKS, BBS2, BBS7
25heart developmentGO:00750710.7HAND1, CITED2, TBX1, MKKS
26cardiac right ventricle morphogenesisGO:00321510.7JAG1, GATA4
27fat cell differentiationGO:04544410.7MKKS, BBS2, BBS7
28aorta morphogenesisGO:03590910.7JAG1, TBX1
29male gonad developmentGO:00858410.7CITED2, GATA6, GATA4
30angiogenesisGO:00152510.7HAND1, JAG1, TBX1, GJA5
31striatum developmentGO:02175610.7BBS2, MKKS
32regulation of vasodilationGO:04231210.7NPPB, GJA5
33cardiac muscle hypertrophy in response to stressGO:01489810.7GATA4, GATA6
34negative regulation of gene expressionGO:01062910.7MKKS, CITED2, BBS2
35negative regulation of transcription from RNA polymerase II promoterGO:00012210.6FEZF2, HAND1, GATA6, CITED2, NKX2-5, ZFPM2
36negative regulation of transcription, DNA-dependentGO:04589210.6HAND1, GATA6, CITED2, NKX2-5, ZFPM2
37regulation of cardiac muscle contractionGO:05511710.6NKX2-5, GJA5
38cellular response to BMP stimulusGO:07177310.6GATA6, GATA5
39positive regulation of transcription, DNA-dependentGO:04589310.6FEZF2, GATA4, CITED2, NKX2-5, TBX1
40heart loopingGO:00194710.6VANGL2, MKKS, NKX2-5, CITED2, GATA4, HAND1
41brain morphogenesisGO:04885410.6BBS2, MKKS
42pharyngeal system developmentGO:06003710.6NKX2-5, TBX1
43positive regulation of transcription from RNA polymerase II promoterGO:04594410.6HAND1, JAG1, GATA4, GATA6, GATA5, CITED2
44digestive tract morphogenesisGO:04854610.5BBS7, VANGL2
45ventricular septum developmentGO:00328110.5GATA4, GJA5
46trophectodermal cell differentiationGO:00182910.5HAND1, CITED2
47cardiac muscle cell differentiationGO:05500710.4NKX2-5, GATA6
48vasodilationGO:04231110.4BBS2, MKKS
49thyroid gland developmentGO:03087810.3TBX1, NKX2-5
50positive regulation of cardiac muscle cell proliferationGO:06004510.1GATA6, GATA4

Molecular functions related to Tetralogy of Fallot according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.4GATA4, GATA6, GATA5, NKX2-5
2transcription regulatory region DNA bindingGO:04421210.4NKX2-5, GATA5, GATA6, GATA4, HAND1
3RNA polymerase II transcription coactivator activityGO:00110510.4ZFPM2, CITED2
4transcription factor bindingGO:00813410.3HAND1, GATA4, GATA6, NKX2-5, ZFPM2
5enhancer sequence-specific DNA bindingGO:00115810.3GATA5, GATA4
6sequence-specific DNA binding transcription factor activityGO:00370010.2GATA4, GATA6, GATA5, CITED2, NKX2-5, TBX1
7chromatin bindingGO:00368210.0GATA4, GATA6, CITED2, NKX2-5

Products for genes affiliated with Tetralogy of Fallot

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Sources for Tetralogy of Fallot

26ICD10 via Orphanet
36MESH via Orphanet
48OMIM via Orphanet
58SNOMED-CT via Orphanet
62UMLS via Orphanet