MCID: TRC062
MIFTS: 54

Tricuspid Atresia

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Tricuspid Atresia

MalaCards integrated aliases for Tricuspid Atresia:

Name: Tricuspid Atresia 57 11 19 58 75 5 43 14 33
Congenital Agenesis of the Tricuspid Valve 19

Characteristics:


Prevelance:

1-9/100000 (Europe, Europe, Belgium, France, Germany, Italy, Netherlands, Norway, Poland, Spain, United Kingdom, Ukraine, Taiwan, Province of China, Malta, Czech Republic, Slovakia) 1-5/10000 (Ireland, Portugal, Switzerland) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080169
OMIM® 57 605067
MeSH 43 D018785
MESH via Orphanet 44 D018785
ICD10 via Orphanet 32 Q22.4
UMLS via Orphanet 72 C0243002
Orphanet 58 ORPHA1209
MedGen 40 C0243002
ICD11 33 845891723

Summaries for Tricuspid Atresia

GARD: 19 A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.

MalaCards based summary: Tricuspid Atresia, also known as congenital agenesis of the tricuspid valve, is related to interatrial communication and tricuspid valve stenosis. An important gene associated with Tricuspid Atresia is HEY2 (Hes Related Family BHLH Transcription Factor With YRPW Motif 2), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Human Embryonic Stem Cell Pluripotency. The drugs Sodium citrate and Sildenafil have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and endothelial, and related phenotypes are tricuspid atresia and ventricular septal defect

Orphanet: 58 A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.

Disease Ontology: 11 A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.

Wikipedia: 75 Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the... more...

More information from OMIM: 605067

Related Diseases for Tricuspid Atresia

Diseases related to Tricuspid Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 202)
# Related Disease Score Top Affiliating Genes
1 interatrial communication 31.3 TBX5 NKX2-5
2 tricuspid valve stenosis 31.0 NKX2-5 HEY2
3 conotruncal heart malformations 30.8 ZFPM2 TBX1 NKX2-5 GATA6
4 subvalvular aortic stenosis 30.7 TBX20 NKX2-5
5 wolff-parkinson-white syndrome 30.5 TBX5 TBX20 NKX2-5
6 atrioventricular block 30.5 TBX5 NKX2-5 GATA4
7 aortic valve disease 2 30.3 TBX5 NKX2-5 GATA4
8 left ventricular noncompaction 30.2 TBX5 TBX20 NKX2-5 HEY2 GATA4
9 transposition of the great arteries, dextro-looped 30.1 ZIC3 TBX5 TBX20 TBX1 NKX2-5 ISL1
10 digeorge syndrome 29.9 TBX5 TBX1 PRODH
11 total anomalous pulmonary venous return 1 29.9 ZIC3 TBX5 NKX2-5 GATA4 CFC1
12 hypoplastic right heart syndrome 29.9 TBX5 TBX20 NKX2-5 HAND2
13 pulmonary valve stenosis 29.8 ZIC3 TBX5 NKX2-5 GATA4 CFC1
14 ebstein anomaly 29.4 ZFPM2 TBX5 TBX20 NKX2-5 HAND2 GOLGA8H
15 patent foramen ovale 29.4 ZIC3 TBX5 TBX20 TBX1 NKX2-5 HAND2
16 chromosome 22q11.2 deletion syndrome, distal 29.2 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
17 hypertrophic cardiomyopathy 29.2 TBX5 TBX20 NKX2-5 MT-ND1 MEF2C HAND2
18 lipoprotein quantitative trait locus 28.9 TBX5 TBX20 NKX2-5 MEF2C ISL1 HAND2
19 dilated cardiomyopathy 28.9 TBX5 TBX20 NKX2-5 MEF2C ISL1 HAND2
20 patent ductus arteriosus 1 28.8 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
21 heart septal defect 28.7 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
22 ventricular septal defect 28.7 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
23 aortic valve disease 1 28.6 TBX5 TBX20 TBX1 NKX2-5 NFATC1 ISL1
24 atrial heart septal defect 28.3 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
25 right atrial isomerism 28.3 ZIC3 TBX5 TBX20 NKX2-5 GOLGA8T GOLGA8Q
26 double outlet right ventricle 28.2 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
27 hypoplastic left heart syndrome 27.9 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
28 tetralogy of fallot 27.8 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
29 atrioventricular septal defect 27.7 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
30 critical congenital heart disease 11.1
31 pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome 11.1
32 single ventricular heart 10.6
33 univentricular heart 10.5
34 right ventricular hypoplasia, isolated 10.4
35 vascular disease 10.3
36 congenital aortopulmonary window 10.3
37 juxtaposition of the atrial appendages 10.3
38 aortopulmonary window 10.3
39 testicular thecoma 10.3 ZFPM2 GATA4
40 third-degree atrioventricular block 10.2
41 mitral valve insufficiency 10.2
42 situs inversus 10.2
43 dextrocardia 10.2
44 double outlet left ventricle 10.2
45 ciliary dyskinesia, primary, 40 10.2 NKX2-5 GATA4
46 fanconi renotubular syndrome 1 10.2 NKX2-5 HEY2
47 46,xy partial gonadal dysgenesis 10.2 ZFPM2 GATA4
48 coarctation of aorta 10.2
49 visceral heterotaxy 10.2
50 aortic arch interruption 10.2

Graphical network of the top 20 diseases related to Tricuspid Atresia:



Diseases related to Tricuspid Atresia

Symptoms & Phenotypes for Tricuspid Atresia

Human phenotypes related to Tricuspid Atresia:

58 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tricuspid atresia 58 30 Obligate (100%) Obligate (100%)
HP:0011662
2 ventricular septal defect 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001629
3 cyanosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000961
4 transposition of the great arteries 58 30 Frequent (33%) Frequent (79-30%)
HP:0001669
5 patent foramen ovale 58 30 Frequent (33%) Frequent (79-30%)
HP:0001655
6 persistent left superior vena cava 58 30 Frequent (33%) Frequent (79-30%)
HP:0005301
7 hypoplasia of right ventricle 58 30 Frequent (33%) Frequent (79-30%)
HP:0004762
8 coarctation of aorta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001680
9 pulmonary artery atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004935
10 atrial septal defect 58 Frequent (79-30%)

Clinical features from OMIM®:

605067 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Tricuspid Atresia:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 CFC1 GATA4 GATA6 HAND2 HEY2 ISL1
2 muscle MP:0005369 10.29 GATA4 GATA6 HAND2 HEY2 ISL1 MEF2C
3 normal MP:0002873 10.26 GATA4 GATA6 HAND2 ISL1 MEF2C NKX2-5
4 embryo MP:0005380 10.25 CFC1 GATA4 GATA6 HAND2 HEY2 ISL1
5 limbs/digits/tail MP:0005371 10.18 GATA4 GATA6 HAND2 ISL1 MEF2C NFATC1
6 liver/biliary system MP:0005370 10.1 CFC1 GATA4 GATA6 HAND2 HEY2 NFATC1
7 cardiovascular system MP:0005385 10.1 CFC1 GATA4 GATA6 HAND2 HEY2 ISL1
8 digestive/alimentary MP:0005381 10.06 CFC1 GATA4 HAND2 ISL1 MEF2C NFATC1
9 cellular MP:0005384 10.06 GATA4 GATA6 HAND2 ISL1 MEF2C NFATC1
10 craniofacial MP:0005382 10.02 HAND2 HEY2 ISL1 MEF2C NFATC1 NKX2-5
11 respiratory system MP:0005388 9.9 CFC1 GATA4 GATA6 HEY2 ISL1 MEF2C
12 skeleton MP:0005390 9.65 CFC1 GATA4 HAND2 ISL1 MEF2C NFATC1
13 mortality/aging MP:0010768 9.47 CFC1 GATA4 GATA6 HAND2 HEY2 ISL1

Drugs & Therapeutics for Tricuspid Atresia

Drugs for Tricuspid Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
2
Sildenafil Approved, Investigational Phase 2 139755-83-2, 171599-83-0 5212 135398744
3
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
4
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
5 Phosphodiesterase Inhibitors Phase 2
6 Phosphodiesterase 5 Inhibitors Phase 2
7 Vasodilator Agents Phase 2
8 Citrate Phase 2
9 Endothelin Receptor Antagonists Phase 2
10 Antihypertensive Agents Phase 2
11
Dexmedetomidine Approved, Experimental, Vet_approved Phase 1 86347-14-0, 113775-47-6 68602 5311068
12 Adrenergic alpha-Agonists Phase 1
13 Adrenergic Agonists Phase 1
14 Adrenergic Agents Phase 1
15 Neurotransmitter Agents Phase 1
16 Hypnotics and Sedatives Phase 1
17 Analgesics, Non-Narcotic Phase 1
18 Analgesics Phase 1
19
Ascorbic acid Approved, Nutraceutical 50-81-7 54676860 54670067 5785
20 Vitamins
21 Trace Elements
22 Antioxidants
23 Micronutrients
24 Protective Agents
25 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Sildenafil After Fontan Operation Study Completed NCT00507819 Phase 2 Sildenafil;Placebo
2 Treatment With Endothelin Antagonist to Tcpc Patients; a Multicenter, Randomized, Prospective Study Measuring Maximal O2 Uptake in Ergometer Bicycle Test Completed NCT01292551 Phase 2 Bosentan;Placebo
3 Prospective, Open-labeled, Single-arm Clinical Trial to Evaluate the Safety and Efficacy of the Second-generation Tissue Engineered Vascular Graft as Vascular Conduits for Extracardiac Total Cavopulmonary Connection. Recruiting NCT04467671 Phase 2
4 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
5 Liothyronine in Children With Single Ventricle Congenital Cardiac Malformations Undergoing the Fontan Procedure Completed NCT00004828 Phase 1 liothyronine I 131
6 Vitamin C May Improve Endothelial Function and Exercise Capacity in Functional Single Ventricle Patients After Fontan Palliation Completed NCT00974025
7 Identification of Biomarkers for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
8 Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease? Recruiting NCT04106479
9 Non-invasive Assessment of Liver Function in Patients Undergoing Heart and Liver Transplant Evaluation Terminated NCT04176458
10 Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques Terminated NCT01107990

Search NIH Clinical Center for Tricuspid Atresia

Cochrane evidence based reviews: tricuspid atresia

Genetic Tests for Tricuspid Atresia

Anatomical Context for Tricuspid Atresia

Organs/tissues related to Tricuspid Atresia:

MalaCards : Heart, Liver, Endothelial, Lung, Atrioventricular Node, Trachea, Placenta

Publications for Tricuspid Atresia

Articles related to Tricuspid Atresia:

(show top 50) (show all 1386)
# Title Authors PMID Year
1
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia. 62 57
15643620 2005
2
A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. 62 57
10888889 2000
3
Tricuspid atresia and conotruncal malformations in five families. 62 57
10227411 1999
4
Tricuspid atresia in sibs. 62 57
9863614 1998
5
Tricuspid atresia and annular hypoplasia: report of a familial occurrence. 62 57
7991439 1994
6
Tricuspid atresia: current concepts in diagnosis and treatment. 62 57
1689815 1990
7
Tricuspid atresia and common arterial trunk: a rare form of CHD. 62
36472122 2022
8
Prepregnancy exposure to dietary arsenic and congenital heart defects. 62
36341763 2022
9
"Association of Bulboventricular foramen size and need for early intervention in infants with tricuspid atresia or double inlet left ventricle with normally related great arteries". 62
36442767 2022
10
Transcatheter Mitral Valve Repair in a Tricuspid Atresia Patient With Potts and Glenn Shunts. 62
36299650 2022
11
Successful coil embolization for pediatric internal mammary artery aneurysm after the Fontan procedure: A case report and literature review. 62
36187308 2022
12
Rare association of absent pulmonary valve syndrome, complete atrioventricular canal defect, double outlet right ventricle, right aortic arch, and aberrant right subclavian artery in a fetal case. 62
36126337 2022
13
20 years of experience with the Fontan procedure: characteristics and clinical outcomes of children in a tertiary referral hospital. 62
36205146 2022
14
Francis Fontan (1929-2018): Pioneer pediatric cardiac surgeon. 62
36069037 2022
15
Outcomes of bidirectional Glenn surgery done without prior cardiac catheterization. 62
35925522 2022
16
Valve-Sparing Reimplantation for Right Coronary Artery Compression After Fontan Procedure. 62
34838739 2022
17
Considerations in Critical-Care and Anesthetic Management of Adult Patients Living With Fontan Circulation. 62
35490923 2022
18
Common arterial trunk in functionally univentricular hearts: a case series. 62
35815558 2022
19
Analysis of outcomes in patients with abnormal laterality undergoing congenital heart surgery. 62
34593080 2022
20
Tracheobronchial Release for Left Bronchus Compression After Aortic Arch Repair. 62
35261322 2022
21
Tricuspid atresia with absent pulmonary valve: A rare form of single ventricle. 62
35434814 2022
22
Monochorionic Twin Discordance for Horseshoe Lung and Tricuspid Atresia. 62
32886556 2022
23
Juxtaposition of the Atrial Appendages: A Large Echocardiographic Series. 62
35107630 2022
24
Cohort study of intervened functionally univentricular heart in England and Wales (2000-2018). 62
34706904 2022
25
Juxtaposition of atrial appendages: Evaluation of cardiovascular morphology and associated anomalies on multidetector computed tomography angiography. 62
35137986 2022
26
Fontan operation for tricuspid atresia with absent pulmonary valve: a case series. 62
34497001 2022
27
Tricuspid Atresia with Persistent Left Superior Vena Cava and Pulmonary Arterial Hypertension. Case Report. 62
34020773 2022
28
An echocardiographic finding mimicking tricuspid atresia in a neonate with dilated cardiomyopathy. 62
34350823 2022
29
Factors associated with mortality or transplantation versus Fontan completion after cavopulmonary shunt for patients with tricuspid atresia. 62
34045062 2022
30
Effects of universal critical CHD screening of neonates at a mid-sized California congenital cardiac surgery centre. 62
34024296 2022
31
Isoproterenol Challenge Unmasking Dynamic Bulbo-Ventricular Foramen Restriction. 62
34528131 2022
32
Absent pulmonary valve with tricuspid atresia/stenosis: literature review with new three long-term cases. 62
34089363 2022
33
Prenatal Diagnosis of a Rare Case of Double-Outlet Right Ventricle with Tricuspid Atresia. 62
36304769 2022
34
Maternal Smoking and Congenital Heart Defects, National Birth Defects Prevention Study, 1997-2011. 62
34508749 2022
35
The prenatal diagnosis of a rare circular shunt with absent pulmonary valve syndrome. 62
34137049 2022
36
Tricuspid atresia in adulthood. 62
35106438 2022
37
Acute Liver Failure due to Altered Fontan Circulation in a Patient With Tricuspid Atresia: A Case Report. 62
35866363 2022
38
Prevalent pharmacotherapy of US Fontan survivors: A study utilizing data from the MarketScan Commercial and Medicaid claims databases. 62
34582777 2022
39
Identification of the atrioventricular conduction axis and its positional relationship with anatomical landmarks of a heart with tricuspid atresia. 62
36004121 2021
40
Commentary: Conduction system in tricuspid atresia: Anatomic insights continue to refine our approach. 62
36004148 2021
41
A case of tricuspid atresia with pulmonary valve absence coexisting coronary-right ventricular fistula. 62
34519992 2021
42
MRI characterization of hemodynamic patterns of human fetuses with cyanotic congenital heart disease. 62
34097323 2021
43
Common Arterial Trunk Associated with Functionally Univentricular Heart: Anatomical Study and Review of the Literature. 62
34940530 2021
44
Mechanical thrombectomy of COVID-19 DVT with congenital heart disease leading to phlegmasia cerulea dolens: a case report. 62
34886795 2021
45
Reoperation after modified Björk procedure for tricuspid atresia. 62
35527764 2021
46
Anesthetic Management of Resection of Metastatic Occipital Malignancy in a Patient With Fontan Physiology. 62
34786248 2021
47
Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family. 62
34363434 2021
48
Emergency Department Presentation and Outcome of Children With Cyanotic Congenital Heart Diseases. 62
34660148 2021
49
Temporal progression of P wave abnormality in a patient with classical or atriopulmonary Fontan. 62
34416667 2021
50
Double trouble: A hitherto undescribed association of tricuspid atresia and common arterial trunk! 62
34053105 2021

Variations for Tricuspid Atresia

ClinVar genetic disease variations for Tricuspid Atresia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP1 NM_002332.3(LRP1):c.1576C>G (p.Leu526Val) SNV Uncertain Significance
816915 rs770169648 GRCh37: 12:57552199-57552199
GRCh38: 12:57158416-57158416
2 LRP1 NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys) SNV Uncertain Significance
816916 rs1396150729 GRCh37: 12:57606262-57606262
GRCh38: 12:57212479-57212479

Expression for Tricuspid Atresia

Search GEO for disease gene expression data for Tricuspid Atresia.

Pathways for Tricuspid Atresia

GO Terms for Tricuspid Atresia

Cellular components related to Tricuspid Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cis-Golgi network GO:0005801 9.73 GOLGA8T GOLGA8Q GOLGA8H
2 transcription regulator complex GO:0005667 9.7 TBX5 NKX2-5 NFATC1 ISL1 HAND2 GATA6
3 chromatin GO:0000785 9.7 GATA4 GATA6 HAND2 HEY2 ISL1 MEF2C
4 Golgi cis cisterna GO:0000137 9.63 GOLGA8T GOLGA8Q GOLGA8H

Biological processes related to Tricuspid Atresia according to GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.59 GATA4 GATA6 HEY2 ISL1 MEF2C NKX2-5
2 regulation of transcription by RNA polymerase II GO:0006357 10.58 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.55 GATA4 GATA6 HAND2 HEY2 ISL1 MEF2C
4 positive regulation of DNA-templated transcription GO:0045893 10.43 GATA4 GATA6 HAND2 MEF2C NFATC1 NKX2-5
5 cell differentiation GO:0030154 10.39 ZIC3 ZFPM2 NKX2-5 MEF2C ISL1 HAND2
6 regulation of DNA-templated transcription GO:0006355 10.32 GATA4 GATA6 HAND2 HEY2 ISL1 MEF2C
7 vasculogenesis GO:0001570 10.22 ZFPM2 TBX20 NKX2-5 HEY2
8 anterior/posterior pattern specification GO:0009952 10.21 ZIC3 TBX1 HEY2 CFC1
9 determination of left/right symmetry GO:0007368 10.2 ZIC3 TBX1 CFC1
10 cell fate commitment GO:0045165 10.19 GATA4 GATA6 HEY2
11 odontogenesis of dentin-containing tooth GO:0042475 10.19 TBX1 HAND2 GATA6
12 aortic valve morphogenesis GO:0003180 10.18 TBX20 NKX2-5 NFATC1 HEY2 GATA4
13 heart looping GO:0001947 10.18 GATA4 HAND2 MEF2C NKX2-5 TBX20 ZIC3
14 positive regulation of BMP signaling pathway GO:0030513 10.17 TBX20 GATA6 GATA4
15 ventricular septum morphogenesis GO:0060412 10.16 ZFPM2 NKX2-5 HEY2
16 blood vessel development GO:0001568 10.16 CFC1 HEY2 MEF2C TBX1
17 negative regulation of cardiac muscle cell apoptotic process GO:0010667 10.16 NKX2-5 HEY2 HAND2 GATA4
18 cell fate specification GO:0001708 10.15 TBX5 TBX20 TBX1
19 cardiac muscle cell proliferation GO:0060038 10.15 TBX5 NKX2-5 HEY2 GATA6
20 stem cell differentiation GO:0048863 10.1 ZIC3 ISL1 GATA6
21 pharyngeal system development GO:0060037 10.1 TBX1 NKX2-5 ISL1
22 smooth muscle cell differentiation GO:0051145 10.1 MEF2C HEY2 GATA6
23 cardiac right ventricle morphogenesis GO:0003215 10.1 TBX20 ISL1 HEY2 GATA4
24 heart morphogenesis GO:0003007 10.08 TBX1 NKX2-5 ISL1 HAND2
25 atrioventricular canal development GO:0036302 10.07 TBX20 GATA6 GATA4
26 pattern specification process GO:0007389 10.06 ZIC3 TBX5 TBX1 HEY2
27 atrioventricular node development GO:0003162 10.04 NKX2-5 GATA6 GATA4
28 positive regulation of cardiac muscle cell proliferation GO:0060045 10.03 GATA6 HEY2 MEF2C TBX20 TBX5 ZFPM2
29 cardiac muscle tissue morphogenesis GO:0055008 10.02 TBX20 NKX2-5
30 secondary heart field specification GO:0003139 10.02 MEF2C ISL1
31 intestinal epithelial cell differentiation GO:0060575 10.02 GATA6 GATA4
32 outflow tract morphogenesis GO:0003151 10.02 TBX20 TBX1 NKX2-5 MEF2C ISL1 HEY2
33 endocardial cushion development GO:0003197 10.01 TBX5 GATA4
34 coronary artery morphogenesis GO:0060982 10.01 TBX1 HAND2
35 ventricular cardiac muscle cell development GO:0055015 10.01 NKX2-5 HEY2
36 sinoatrial node development GO:0003163 10.01 TBX5 GATA6
37 cardiac muscle cell differentiation GO:0055007 10.01 GATA4 GATA6 NKX2-5 TBX5
38 outer ear morphogenesis GO:0042473 10 TBX1 ZIC3
39 mesenchymal cell development GO:0014031 10 TBX20 HEY2
40 cardiac ventricle formation GO:0003211 9.99 NKX2-5 MEF2C
41 bundle of His development GO:0003166 9.98 NKX2-5 TBX5
42 atrial cardiac muscle tissue development GO:0003228 9.98 NKX2-5 ZIC3
43 regulation of secondary heart field cardioblast proliferation GO:0003266 9.98 HAND2 ISL1
44 atrioventricular node cell development GO:0060928 9.97 NKX2-5 TBX5
45 cardiac ventricle morphogenesis GO:0003208 9.97 GATA4 HEY2 NKX2-5
46 positive regulation of cardioblast differentiation GO:0051891 9.97 TBX5 NKX2-5 GATA6 GATA4
47 visceral motor neuron differentiation GO:0021524 9.96 TBX20 ISL1
48 apoptotic process involved in heart morphogenesis GO:0003278 9.95 NKX2-5 HAND2
49 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.94 NKX2-5 ZFPM2
50 atrioventricular node cell fate commitment GO:0060929 9.94 NKX2-5 TBX5

Molecular functions related to Tricuspid Atresia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.47 GATA4 GATA6 HEY2 ISL1 MEF2C NFATC1
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.45 GATA4 GATA6 HAND2 HEY2 ISL1 MEF2C
3 DNA binding GO:0003677 10.33 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.28 GATA4 HAND2 ISL1 MEF2C NFATC1 NKX2-5
5 DNA-binding transcription factor activity GO:0003700 10.23 ZIC3 TBX5 TBX20 TBX1 NKX2-5 NFATC1
6 RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0000977 10.2 ZIC3 TBX5 TBX20 NFATC1 MEF2C HAND2
7 transcription cis-regulatory region binding GO:0000976 10.18 GATA4 GATA6 HAND2 MEF2C NKX2-5
8 sequence-specific DNA binding GO:0043565 10.03 GATA4 GATA6 HAND2 HEY2 ISL1 NKX2-5
9 sequence-specific double-stranded DNA binding GO:1990837 10 GATA4 GATA6 HAND2 HEY2 ISL1 MEF2C
10 transcription coactivator binding GO:0001223 9.97 NFATC1 HAND2 GATA6
11 protein dimerization activity GO:0046983 9.92 TBX1 MEF2C HEY2 HAND2
12 cis-regulatory region sequence-specific DNA binding GO:0000987 9.85 ISL1 GATA6 GATA4
13 minor groove of adenine-thymine-rich DNA binding GO:0003680 9.84 MEF2C HAND2
14 NFAT protein binding GO:0051525 9.81 GATA6 GATA4
15 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.64 ZFPM2 TBX5 TBX20 NKX2-5 NFATC1 MEF2C

Sources for Tricuspid Atresia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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