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MCID: TRC062
MIFTS: 54

Tricuspid Atresia

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Tricuspid Atresia

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MalaCards integrated aliases for Tricuspid Atresia:

Name: Tricuspid Atresia 57 12 73 20 58 36 6 44 15
Congenital Agenesis of the Tricuspid Valve 20

Characteristics:

Orphanet epidemiological data:

58
tricuspid atresia
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Belgium),1-9/100000 (France),1-5/10000 (Germany),1-5/10000 (Ireland),1-9/100000 (Italy),1-9/100000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Spain),1-5/10000 (Portugal),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080169
OMIM® 57 605067
KEGG 36 H01785
MeSH 44 D018785
MESH via Orphanet 45 D018785
ICD10 via Orphanet 33 Q22.4
UMLS via Orphanet 71 C0243002
Orphanet 58 ORPHA1209
MedGen 41 C0243002
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Summaries for Tricuspid Atresia

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GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1209 Definition Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).

MalaCards based summary : Tricuspid Atresia, also known as congenital agenesis of the tricuspid valve, is related to tricuspid valve stenosis and atrioventricular block. An important gene associated with Tricuspid Atresia is ZFPM2 (Zinc Finger Protein, FOG Family Member 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and BMAL1-CLOCK,NPAS2 activates circadian gene expression. The drugs Sodium citrate and Bosentan 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

Disease Ontology : 12 A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth.

KEGG : 36 Tricuspid atresia is the third most common cyanotic congenital heart defect. It consists of complete lack of tricuspid valve formation, with no connection between the right atrium and the right ventricle. Severe cyanosis associated with diminished pulmonary blood flow is a prominent feature in tricuspid atresia. The malformation brings about high morbidity and mortality, thus requiring the utilization of an adequate surgical technique for its correction. The genetic mechanism responsible of tricuspid atresia is still obscure. However, animal models have suggested a role of cardiogenic Zfpm2/Fog2 and Hey2 genes in the pathogenesis.

Wikipedia : 73 Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the... more...

More information from OMIM: 605067
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Related Diseases for Tricuspid Atresia

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 tricuspid valve stenosis 30.9 NKX2-5 HEY2
2 atrioventricular block 30.3 TBX5 NKX2-5 GATA4
3 dextro-looped transposition of the great arteries 30.2 ZIC3 TBX5 TBX1 NKX2-5 GATA4
4 sinoatrial node disease 30.0 TBX5 NKX2-5
5 conotruncal heart malformations 29.9 ZFPM2 TBX1 NKX2-5 GATA6
6 partial atrioventricular canal 29.7 GATA6 GATA4
7 hypoplastic right heart syndrome 29.7 TBX5 TBX20 NKX2-5 HAND2
8 ventricular septal defect 29.7 ZIC3 ZFPM2 TBX5 NKX2-5 HAND2 GATA6
9 interatrial communication 29.6 TBX5 TBX20 NKX2-5 GATA6 GATA4
10 right atrial isomerism 29.4 ZIC3 TBX5 TBX20 NKX2-5
11 pulmonary valve stenosis 29.4 ZIC3 TBX5 TBX20 NKX2-5 GATA4
12 left ventricular noncompaction 29.2 TBX5 TBX20 NKX2-5 MT-ND1 HEY2 GATA4
13 digeorge syndrome 28.8 TBX5 TBX20 TBX1 PRODH NKX2-5 HAND2
14 heart septal defect 28.7 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
15 atrial heart septal defect 28.3 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
16 double outlet right ventricle 27.9 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
17 patent ductus arteriosus 1 27.9 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
18 patent foramen ovale 27.7 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
19 atrioventricular septal defect 27.5 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
20 tetralogy of fallot 27.5 ZIC3 ZFPM2 TBX5 TBX20 TBX1 PRODH
21 hypoplastic left heart syndrome 27.5 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
22 heart disease 27.2 ZIC3 TBX5 TBX20 TBX1 PRODH NKX2-5
23 critical congenital heart disease 11.1
24 single ventricular heart 10.6
25 cyanosis, transient neonatal 10.5
26 univentricular heart 10.5
27 juxtaposition of the atrial appendages 10.3
28 aortopulmonary window 10.3
29 testicular thecoma 10.2 ZFPM2 GATA4
30 double outlet left ventricle 10.2
31 subvalvular aortic stenosis 10.2
32 fanconi renotubular syndrome 1 10.2 NKX2-5 HEY2
33 dextrocardia 10.2
34 pulmonary hypertension 10.2
35 wolff-parkinson-white syndrome 10.2
36 46,xy partial gonadal dysgenesis 10.2 ZFPM2 GATA4
37 46,xy sex reversal 9 10.2 ZFPM2 GATA4
38 syncope 10.1
39 mitral atresia 10.1
40 atrial septal defect coronary sinus 10.1
41 aortic arch interruption 10.1
42 heterotaxy 10.1
43 polycythemia 10.1
44 congestive heart failure 10.1
45 mitral valve insufficiency 10.1
46 protein-losing enteropathy 10.1
47 pulmonic stenosis 10.1
48 pulmonary atresia with intact ventricular septum 10.1
49 chromosome 22q11.2 duplication syndrome 10.1 TBX1 PRODH
50 alagille syndrome 1 10.1 TBX5 NKX2-5 HEY2

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



Diseases related to Tricuspid Atresia
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Symptoms & Phenotypes for Tricuspid Atresia

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Human phenotypes related to Tricuspid Atresia:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tricuspid atresia 58 31 obligate (100%) Obligate (100%) HP:0011662
2 ventricular septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001629
3 cyanosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000961
4 transposition of the great arteries 58 31 frequent (33%) Frequent (79-30%) HP:0001669
5 patent foramen ovale 58 31 frequent (33%) Frequent (79-30%) HP:0001655
6 persistent left superior vena cava 58 31 frequent (33%) Frequent (79-30%) HP:0005301
7 hypoplasia of right ventricle 58 31 frequent (33%) Frequent (79-30%) HP:0004762
8 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
9 pulmonary artery atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004935
10 atrial septal defect 58 Frequent (79-30%)

Clinical features from OMIM®:

605067 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Tricuspid Atresia:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 GATA4 GATA6 HAND2 HEY2 LRP1 MESP1
2 homeostasis/metabolism MP:0005376 10.27 GATA4 GATA6 HAND2 HEY2 LRP1 MESP1
3 growth/size/body region MP:0005378 10.26 GATA4 GATA6 HAND2 HEY2 LRP1 MESP1
4 embryo MP:0005380 10.24 GATA4 GATA6 HAND2 HEY2 LRP1 MESP1
5 cellular MP:0005384 10.22 GATA4 GATA6 HAND2 LRP1 MESP1 NKX2-5
6 mortality/aging MP:0010768 10.15 GATA4 GATA6 HAND2 HEY2 LRP1 MESP1
7 muscle MP:0005369 10.06 GATA4 GATA6 HAND2 HEY2 LRP1 MESP1
8 craniofacial MP:0005382 10.05 HAND2 HEY2 MESP1 NKX2-5 TBX1 TBX20
9 limbs/digits/tail MP:0005371 10.03 GATA4 GATA6 HAND2 LRP1 PRODH TBX1
10 liver/biliary system MP:0005370 10.01 GATA4 GATA6 HAND2 HEY2 LRP1 PLA2G12B
11 nervous system MP:0003631 9.96 GATA4 HAND2 HEY2 LRP1 MESP1 NKX2-5
12 normal MP:0002873 9.9 GATA4 GATA6 HAND2 LRP1 MESP1 NKX2-5
13 respiratory system MP:0005388 9.61 GATA4 GATA6 HEY2 MESP1 NKX2-5 PRODH
14 skeleton MP:0005390 9.23 GATA4 HAND2 LRP1 MESP1 PRODH TBX1
Sources

Drugs & Therapeutics for Tricuspid Atresia

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 2 68-04-2
2
Bosentan Approved, Investigational Phase 2 147536-97-8 104865
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
4 Vasodilator Agents Phase 2
5 Phosphodiesterase Inhibitors Phase 2
6 Citrate Phase 2
7 Sildenafil Citrate Phase 2 171599-83-0
8 Phosphodiesterase 5 Inhibitors Phase 2
9 Antihypertensive Agents Phase 2
10 Endothelin Receptor Antagonists Phase 2
11
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
12 Adrenergic alpha-Agonists Phase 1
13 Adrenergic Agonists Phase 1
14 Hypnotics and Sedatives Phase 1
15 Neurotransmitter Agents Phase 1
16 Adrenergic Agents Phase 1
17 Analgesics Phase 1
18 Analgesics, Non-Narcotic Phase 1
19
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
20 Micronutrients
21 Trace Elements
22 Nutrients
23 Antioxidants
24 Protective Agents
25 Vitamins
26 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 Liothyronine in Children With Single Ventricle Congenital Cardiac Malformations Undergoing the Fontan Procedure Completed NCT00004828 Phase 1 liothyronine I 131
5 The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
6 Identification of Biomarkers for Heart Failure in Children With Single Ventricle Physiology Completed NCT00571233
7 Vitamin C May Improve Endothelial Function and Exercise Capacity in Functional Single Ventricle Patients After Fontan Palliation Completed NCT00974025
8 Non-invasive Assessment of Liver Function in Patients Undergoing Heart and Liver Transplant Evaluation Recruiting NCT04176458
9 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
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

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Genetic Tests for Tricuspid Atresia

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Anatomical Context for Tricuspid Atresia

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MalaCards organs/tissues related to Tricuspid Atresia:

40
Heart, Liver, Endothelial, Spleen, Placenta, Lung, Brain
Sources

Publications for Tricuspid Atresia

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Articles related to Tricuspid Atresia:

(show top 50) (show all 1334)
# Title Authors PMID Year
1
ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia. 61 57
15643620 2005
2
A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. 57 61
10888889 2000
3
Tricuspid atresia and conotruncal malformations in five families. 61 57
10227411 1999
4
Tricuspid atresia in sibs. 61 57
9863614 1998
5
Tricuspid atresia and annular hypoplasia: report of a familial occurrence. 61 57
7991439 1994
6
Tricuspid atresia: current concepts in diagnosis and treatment. 61 57
1689815 1990
7
Myocardial deformation in patients with a single left ventricle using 2D cardiovascular magnetic resonance feature tracking: a case-control study. 61
33788063 2021
8
Outcomes after the Fontan operation in the Middle East: A large Saudi Arabian single centre experience. 61
33148464 2021
9
A 40-Year-Old Man With Tricuspid Atresia, Status Post-Fontan, With Severe COVID-19 Pneumonia and Pneumothorax. 61
33558861 2021
10
Complex congenital heart diseases among children presenting for cardiac surgery in a tertiary health facility in Enugu; South-East Nigeria. A rising trend. 61
33473033 2021
11
Higher Incidence of Protein-Losing Enteropathy in Patients with Single Systemic Right Ventricle. 61
32975605 2021
12
Transvenous shock-only implantable cardioverter defibrillator after an atrio-pulmonary Fontan surgery. 61
33210728 2021
13
Glenn surgery: a safe procedure in the path of univentricular correction. 61
33476319 2021
14
The failing Fontan. 61
33603286 2021
15
Prevalence rates study of selected isolated non-Mendelian congenital anomalies in the Hutterite population of Alberta, 1980-2016. 61
32893972 2020
16
Tricuspid atresia with Type-III levo-transposition of great arteries: A tryst with twin tribulations. 61
31561977 2020
17
Isolated left superior vena cava in tricuspid atresia with a rare reverse venous garland. 61
31864839 2020
18
Large Coronary Artery Fistula in Tricuspid Atresia - Pulmonary Atresia With Intact Ventricular Septum - A Unique Association Revealed on Dual-Source CT. 61
32723686 2020
19
Orthotopic Heart Transplantation in a Child with Single Ventricle after Pneumonectomy. 61
33165000 2020
20
Bronchial varices in a child with tricuspid atresia six years post Fontan correction. 61
32695400 2020
21
Learning from a case of right ventricular outflow tract stenting in tricuspid atresia with critical pulmonary stenosis. 61
32843116 2020
22
Bentall procedure for the repair of a neoaortic aneurysm after the Norwood procedure in a patient with tricuspid atresia and a discordant ventriculo-arterial connection. 61
32887986 2020
23
Management of cesarean section in a patient with Fontan circulation: a case report of dramatic reduction of maternal oxygen consumption after delivery. 61
33011935 2020
24
Damus-Kay-Stansel procedure with ventricular septal defect enlargement. 61
33108899 2020
25
Heart Rate Responses During Exercise by Dominant Ventricle in Pediatric and Young Adult Patients With a Fontan Circulation. 61
32249066 2020
26
Monochorionic Twin Discordance for Horseshoe Lung and Tricuspid Atresia. 61
32886556 2020
27
A case of tricuspid atresia with Prader-Willi syndrome. 61
32833327 2020
28
Intravascular Papillary Endothelial Hyperplasia of the Maxillary Sinus in Patient with Tricuspid Atresia. 61
31473939 2020
29
The Adult Patient with a Fontan. 61
32622492 2020
30
Tricuspid atresia: Where are we now? 61
32484582 2020
31
COVID-19 in an Adult With Tricuspid Atresia S/P Fontan Palliation. 61
32835267 2020
32
A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA. 61
32524025 2020
33
Single-Stage Fontan Operation in a Patient With Coronary Sinus Ostium Atresia. 61
32294008 2020
34
The intra-extracardiac Fontan: preliminary results. 61
33061125 2020
35
Long-term therapeutic effect of Fontan conversion with an extracardiac conduit. 61
31883324 2020
36
A Rare Case Report of Guillain-Barré Syndrome Presenting as Unilateral Facial Palsy with Isolated acute Bulbar Palsy. 61
33042253 2020
37
Elevated ventricular filling pressures and long-term survival in adults post-Fontan. 61
31145542 2020
38
Heart transplantation and in-hospital outcomes in adult congenital heart disease patients with Fontan: A decade nationwide analysis from 2004 to 2014. 61
31971277 2020
39
A Tribute to the Pioneers of Right Heart Bypass: An Historical Review. 61
32093551 2020
40
Unusual case of tricuspid atresia and transposition of the great arteries presenting with aortic dissection: A rare condition. 61
32147656 2020
41
Quantification of Initial Right Ventricular Dimensions by Computed Tomography in Infants with Congenital Heart Disease and a Hypoplastic Right Ventricle. 61
31997595 2020
42
Catheter ablation for patients with end-stage complex congenital heart disease or cardiomyopathy considered for transplantation: Trials and tribulations. 61
31604655 2020
43
Hypnosis and superficial cervical anesthesia for total thyroidectomy in a high-risk patient - A case report. 61
32535527 2020
44
Best management in isolated right ventricular hypoplasia with septal defects in adults. 61
33123333 2020
45
Tricuspid atresia with absent pulmonary valve and intact ventricular septum: successful bidirectional cavopulmonary anastomosis with complete exclusion of the right ventricle. 61
31769381 2020
46
Failure of Cellularization of Ventriculotomy Patch Leading to Right Ventricular Pseudoaneurysm. 61
31755355 2020
47
Pregnancy in Women with Complex Congenital Heart Disease. A Constant Challenge. 61
31596322 2019
48
Double Orifice Mitral Valve in Tricuspid Atresia: A Rare Association. 61
31506732 2019
49
Acute ischaemic stroke in secondary polycythaemia due to complex congenital cyanotic heart disease. 61
31666251 2019
50
A 39-Year-Old Male Congenital Tricuspid Atresia Patient Who Presented with a New Axillary Lesion after an Orthotopic Heart Transplant. 61
31828063 2019
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Variations for Tricuspid Atresia

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ClinVar genetic disease variations for Tricuspid Atresia:

6
# 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
Sources

Expression for Tricuspid Atresia

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Search GEO for disease gene expression data for Tricuspid Atresia.
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Pathways for Tricuspid Atresia

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Pathways related to Tricuspid Atresia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 12.15 ZIC3 TBX1 GATA6 GATA4
2
BMAL1-CLOCK,NPAS2 activates circadian gene expression 65
Show member pathways
 11.92 TBX5 NKX2-5 GATA4
3
Factors involved in megakaryocyte development and platelet production 65
11.85 ZFPM2 GATA6 GATA4
4
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.73 TBX5 NKX2-5 GATA4
5
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.48 TBX5 NKX2-5 GATA4
6
Transcriptional Regulatory Network in Embryonic Stem Cell 63
11.2 ZIC3 GATA6 GATA4
7
Cardiac Progenitor Differentiation 1
11.08 TBX5 TBX20 NKX2-5 MESP1 GATA4
8
Notch-mediated HES/HEY network 1
11.01 HEY2 GATA6 GATA4
9
Heart Development 1
10.89 TBX5 TBX20 TBX1 NKX2-5 HEY2 HAND2
10
Cardiomyocyte Differentiation through BMP Receptors 63
10.8 NKX2-5 GATA4
11
HOP Signaling 63
10.03 NKX2-5 GATA4
Sources

GO Terms for Tricuspid Atresia

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.73 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
2 chromatin GO:0000785 9.32 ZFPM2 TBX5 TBX20 TBX1 NKX2-5 MESP1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.2 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
2 regulation of transcription, DNA-templated GO:0006355 10.19 TBX5 TBX20 TBX1 NKX2-5 HEY2 HAND2
3 multicellular organism development GO:0007275 10.16 ZIC3 TBX5 TBX20 TBX1 NKX2-5 MESP1
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.09 ZFPM2 TBX20 NKX2-5 HEY2 GATA6
5 negative regulation of transcription, DNA-templated GO:0045892 10.07 ZFPM2 TBX20 NKX2-5 MESP1 HEY2 GATA6
6 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
7 heart development GO:0007507 9.97 ZFPM2 TBX5 TBX1 NKX2-5 HEY2 HAND2
8 cell proliferation GO:0008283 9.87 TBX20 TBX1 LRP1
9 vasculogenesis GO:0001570 9.86 ZFPM2 TBX20 NKX2-5 HEY2
10 anterior/posterior pattern specification GO:0009952 9.85 ZIC3 TBX1 HEY2
11 pattern specification process GO:0007389 9.85 ZIC3 TBX5 TBX1 HEY2
12 heart morphogenesis GO:0003007 9.84 TBX1 NKX2-5 MESP1 HAND2
13 lung development GO:0030324 9.83 ZIC3 ZFPM2 TBX5
14 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.83 NKX2-5 HEY2 HAND2 GATA4
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.83 ZFPM2 TBX5 TBX20 HEY2 GATA6
16 cell fate commitment GO:0045165 9.8 HEY2 GATA6 GATA4
17 outflow tract morphogenesis GO:0003151 9.79 TBX20 TBX1 HEY2
18 cell fate specification GO:0001708 9.78 TBX5 TBX20 TBX1
19 aortic valve morphogenesis GO:0003180 9.78 TBX20 NKX2-5 HEY2 GATA4
20 ventricular septum morphogenesis GO:0060412 9.77 ZFPM2 NKX2-5 HEY2
21 outflow tract septum morphogenesis GO:0003148 9.77 ZFPM2 TBX20 TBX1 NKX2-5 GATA6
22 cardiac right ventricle morphogenesis GO:0003215 9.74 TBX20 HEY2 GATA4
23 heart looping GO:0001947 9.73 ZIC3 TBX20 NKX2-5 MESP1 HAND2 GATA4
24 positive regulation of cardioblast differentiation GO:0051891 9.71 TBX5 NKX2-5 GATA6 GATA4
25 thyroid gland development GO:0030878 9.69 TBX1 NKX2-5
26 cardiac muscle tissue development GO:0048738 9.68 ZFPM2 GATA6
27 pharyngeal system development GO:0060037 9.68 TBX1 NKX2-5
28 smooth muscle cell differentiation GO:0051145 9.68 HEY2 GATA6
29 embryonic heart tube development GO:0035050 9.68 TBX20 NKX2-5
30 aorta morphogenesis GO:0035909 9.67 TBX1 LRP1
31 cardiac muscle hypertrophy in response to stress GO:0014898 9.67 HEY2 GATA6
32 adult heart development GO:0007512 9.66 NKX2-5 HAND2
33 cardiac muscle tissue morphogenesis GO:0055008 9.65 TBX20 NKX2-5
34 endocardial cushion development GO:0003197 9.65 TBX5 GATA4
35 intestinal epithelial cell differentiation GO:0060575 9.65 GATA6 GATA4
36 ventricular cardiac muscle cell development GO:0055015 9.64 NKX2-5 HEY2
37 cardiac ventricle morphogenesis GO:0003208 9.64 HEY2 GATA4
38 embryonic heart tube morphogenesis GO:0003143 9.63 TBX20 MESP1
39 coronary artery morphogenesis GO:0060982 9.63 TBX1 HAND2
40 cardiac vascular smooth muscle cell differentiation GO:0060947 9.61 MESP1 GATA6
41 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.58 ZFPM2 NKX2-5
42 cardiac muscle cell differentiation GO:0055007 9.55 TBX5 NKX2-5 MESP1 GATA6 GATA4
43 positive regulation of transcription, DNA-templated GO:0045893 9.36 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
44 atrial septum morphogenesis GO:0060413 9.35 TBX5 TBX20 NKX2-5 HEY2 GATA4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.14 ZIC3 ZFPM2 TBX5 TBX20 TBX1 NKX2-5
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10.09 ZIC3 TBX5 TBX20 TBX1 NKX2-5 MESP1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.91 ZIC3 TBX5 TBX20 NKX2-5 MESP1 HAND2
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.88 ZIC3 TBX5 TBX20 HAND2 GATA4
5 transcription factor binding GO:0008134 9.87 ZFPM2 TBX5 NKX2-5 HEY2 HAND2 GATA6
6 sequence-specific double-stranded DNA binding GO:1990837 9.86 ZIC3 TBX20 TBX1 NKX2-5 HEY2 HAND2
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.85 NKX2-5 MESP1 HAND2 GATA6 GATA4
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 ZIC3 TBX5 TBX20 TBX1 NKX2-5 MESP1
9 protein dimerization activity GO:0046983 9.8 TBX1 MESP1 HEY2 HAND2
10 RNA polymerase II transcription factor binding GO:0001085 9.69 ZFPM2 TBX20 GATA4
11 sequence-specific DNA binding GO:0043565 9.56 ZIC3 TBX5 TBX1 NKX2-5 HEY2 HAND2
12 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.52 NKX2-5 GATA4
13 DNA-binding transcription factor activity GO:0003700 9.28 ZIC3 TBX5 TBX20 TBX1 NKX2-5 MESP1
Sources

Sources for Tricuspid Atresia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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