Tricuspid Atresia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of pulmonary and tricuspid valves

Congenital tricuspid stenosis

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the circulatory system

Structural developmental anomaly of heart or great vessels

Functionally univentricular heart

Tricuspid atresia

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

SNOMED-CT via HPO ⁶⁹ 10930001 119419001 204296002 more

ICD11 ³³ 845891723

Sources

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

Sources

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:

Sources

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

Sources

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

Synonyms:

(+)-Ascorbate

(+)-Ascorbic acid

(+)-Sodium L-ascorbate

[<sup>14</sup>C]-ascorbic acid

3-keto-L-Gulofuranolactone

3-oxo-L-Gulofuranolactone

AA

Acid, ascorbic

Acid, L-ascorbic

Acide ascorbique

Acido ascorbico

ácido ascórbico

Acidum ascorbicum

Acidum ascorbinicum

Adenex

Allercorb

Antiscorbic vitamin

Antiscorbutic vitamin

arco-Cee

Ascoltin

ASCOR

Ascorb

Ascor-b.i.d.

Ascorbajen

Ascorbate

Ascorbate radical

Ascorbate, ferrous

Ascorbate, magnesium

Ascorbate, sodium

ASCORBIC ACID

Ascorbic acid radical

Ascorbic acid, monosodium salt

Ascorbicab

Ascorbicap

Ascorbicin

Ascorbin

Ascorbinsaeure

Ascorbinsäure

Ascorbutina

Ascorin

Ascorteal

Ascorvit

Cantan

Cantaxin

Catavin C

Ce lent

Cebicure

Cebid

Cebion

Cebione

Cecon

Cee-caps TD

Cee-vite

Cegiolan

Ceglion

Ceklin

Celaskon

Celin

Cell C

Cemagyl

Ce-mi-lin

Cemill

Cenetone

Cenolate

Cereon

Cergona

Cescorbat

Cetamid

Cetane

Cetane-caps TC

Cetane-caps TD

Cetebe

Cetemican

Cevalin

Cevatine

Cevex

Cevi-bid

Cevimin

Ce-vi-sol

Cevital

Cevitamate

Cevitamic acid

Cevitamin

Cevitan

Cevitex

Cewin

Chewcee

Ciamin

Cipca

Citriscorb

Citrovit

C-Level

C-Long

Colascor

Concemin

C-Quin

C-Span

C-Vimin

Davitamon C

Di-L-ascorbate, magnesium

Dora-C-500

Duoscorb

e 300

e300

e-300

Ferrous ascorbate

gamma-Lactone L-threo-hex-2-enonate

gamma-Lactone L-threo-hex-2-enonic acid

HiCee

Hybrin

ido-C

Juvamine

Kangbingfeng

Kyselina askorbova

L Ascorbic acid

L(+)-Ascorbate

L-(+)-Ascorbate

L(+)-Ascorbic acid

L-(+)-Ascorbic acid

L-3-Ketothreohexuronic acid lactone

Laroscorbine

L-Ascorbate

L-Ascorbic acid

Lemascorb

Liqui-cee

L-Lyxoascorbate

L-Lyxoascorbic acid

L-threo-Ascorbic acid

L-Xyloascorbate

L-Xyloascorbic acid

Magnesium ascorbate

Magnesium ascorbicum

Magnesium di L ascorbate

Magnesium di-L-ascorbate

Magnorbin

Meri-c

Monodehydroascorbate radical

Monodehydroascorbic acid radical

Natrascorb

Natrascorb injectable

Planavit C

Proscorbin

Redoxon

Ribena

Ronotec 100

Rontex 100

Roscorbic

Rovimix C

Scorbacid

Scorbu C

Scorbu-C

Secorbate

Semidehydroascorbate

Semidehydroascorbic acid

Sodascorbate

Sodium ascorbate

Suncoat VC 40

Testascorbic

VASC

Vicelat

Vicin

Vicomin C

Viforcit

Viscorin

Viscorin 100m

Vitace

Vitacee

Vitacimin

Vitacin

Vitamin C

Vitamina C

Vitamisin

Vitascorbol

Xitix

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

Sources

Genetic Tests for Tricuspid Atresia

Sources

Anatomical Context for Tricuspid Atresia

Organs/tissues related to Tricuspid Atresia:

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

Sources

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	Sarkozy A...Dallapiccola B	15643620	2005
2	A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. ⁶² ⁵⁷	Svensson EC...Leiden JM	10888889	2000
3	Tricuspid atresia and conotruncal malformations in five families. ⁶² ⁵⁷	Bonnet D...Munnich A	10227411	1999
4	Tricuspid atresia in sibs. ⁶² ⁵⁷	Lin AE...Rosti L	9863614	1998
5	Tricuspid atresia and annular hypoplasia: report of a familial occurrence. ⁶² ⁵⁷	Kumar A...Alexander JA	7991439	1994
6	Tricuspid atresia: current concepts in diagnosis and treatment. ⁶² ⁵⁷	Sade RM...Fyfe DA	1689815	1990
7	Tricuspid atresia and common arterial trunk: a rare form of CHD. ⁶²	Weld J...Elzein C	36472122	2022
8	Prepregnancy exposure to dietary arsenic and congenital heart defects. ⁶²	Suhl J...National Birth Defects Prevention Study	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	Skaff AM...Shuplock JM	36442767	2022
10	Transcatheter Mitral Valve Repair in a Tricuspid Atresia Patient With Potts and Glenn Shunts. ⁶²	Gaignard S...Jokhadar M	36299650	2022
11	Successful coil embolization for pediatric internal mammary artery aneurysm after the Fontan procedure: A case report and literature review. ⁶²	Takahashi Y...Okamoto Y	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	Basar EZ...Babaoglu K	36126337	2022
13	20 years of experience with the Fontan procedure: characteristics and clinical outcomes of children in a tertiary referral hospital. ⁶²	Gutierrez-Gil JA...Mosquera-Alvarez W	36205146	2022
14	Francis Fontan (1929-2018): Pioneer pediatric cardiac surgeon. ⁶²	Huynh E...Desai M	36069037	2022
15	Outcomes of bidirectional Glenn surgery done without prior cardiac catheterization. ⁶²	Azhar A...Abdelmohsen G	35925522	2022
16	Valve-Sparing Reimplantation for Right Coronary Artery Compression After Fontan Procedure. ⁶²	Oda S...Shiose A	34838739	2022
17	Considerations in Critical-Care and Anesthetic Management of Adult Patients Living With Fontan Circulation. ⁶²	Neethling E...Heggie JE	35490923	2022
18	Common arterial trunk in functionally univentricular hearts: a case series. ⁶²	Elhedai H...Stumper O	35815558	2022
19	Analysis of outcomes in patients with abnormal laterality undergoing congenital heart surgery. ⁶²	Basgoze S...Erek E	34593080	2022
20	Tracheobronchial Release for Left Bronchus Compression After Aortic Arch Repair. ⁶²	Nakamura Y...Burkhart HM	35261322	2022
21	Tricuspid atresia with absent pulmonary valve: A rare form of single ventricle. ⁶²	Naik R...Kumar TKS	35434814	2022
22	Monochorionic Twin Discordance for Horseshoe Lung and Tricuspid Atresia. ⁶²	Gomes MS...Ramalho C	32886556	2022
23	Juxtaposition of the Atrial Appendages: A Large Echocardiographic Series. ⁶²	Dalldorf K...Ezon D	35107630	2022
24	Cohort study of intervened functionally univentricular heart in England and Wales (2000-2018). ⁶²	Hadjicosta E...Brown KL	34706904	2022
25	Juxtaposition of atrial appendages: Evaluation of cardiovascular morphology and associated anomalies on multidetector computed tomography angiography. ⁶²	Verma M...Jagia P	35137986	2022
26	Fontan operation for tricuspid atresia with absent pulmonary valve: a case series. ⁶²	Hasegawa M...Kugo Y	34497001	2022
27	Tricuspid Atresia with Persistent Left Superior Vena Cava and Pulmonary Arterial Hypertension. Case Report. ⁶²	Robledo GC...Hernandez P	34020773	2022
28	An echocardiographic finding mimicking tricuspid atresia in a neonate with dilated cardiomyopathy. ⁶²	Takajo D...Aggarwal S	34350823	2022
29	Factors associated with mortality or transplantation versus Fontan completion after cavopulmonary shunt for patients with tricuspid atresia. ⁶²	Callahan CP...Congenital Heart Surgeons' Society Tricuspid Atresia Working Group	34045062	2022
30	Effects of universal critical CHD screening of neonates at a mid-sized California congenital cardiac surgery centre. ⁶²	Miller R...Bock MJ	34024296	2022
31	Isoproterenol Challenge Unmasking Dynamic Bulbo-Ventricular Foramen Restriction. ⁶²	Le Seven C...Baruteau AE	34528131	2022
32	Absent pulmonary valve with tricuspid atresia/stenosis: literature review with new three long-term cases. ⁶²	Kawasaki Y...Ehara E	34089363	2022
33	Prenatal Diagnosis of a Rare Case of Double-Outlet Right Ventricle with Tricuspid Atresia. ⁶²	Golbabaei A...Naemi M	36304769	2022
34	Maternal Smoking and Congenital Heart Defects, National Birth Defects Prevention Study, 1997-2011. ⁶²	Bolin EH...National Birth Defects Prevention Study	34508749	2022
35	The prenatal diagnosis of a rare circular shunt with absent pulmonary valve syndrome. ⁶²	Inamura N...Marutani S	34137049	2022
36	Tricuspid atresia in adulthood. ⁶²	Ricci F...Gallina S	35106438	2022
37	Acute Liver Failure due to Altered Fontan Circulation in a Patient With Tricuspid Atresia: A Case Report. ⁶²	Mikhail J...Elkherpitawy I	35866363	2022
38	Prevalent pharmacotherapy of US Fontan survivors: A study utilizing data from the MarketScan Commercial and Medicaid claims databases. ⁶²	O'Byrne ML...Goldberg DJ	34582777	2022
39	Identification of the atrioventricular conduction axis and its positional relationship with anatomical landmarks of a heart with tricuspid atresia. ⁶²	Wada Y...SPring-8 Cardiovascular Structure Analyzing Research Group	36004121	2021
40	Commentary: Conduction system in tricuspid atresia: Anatomic insights continue to refine our approach. ⁶²	Stephens EH...Maleszewski JJ	36004148	2021
41	A case of tricuspid atresia with pulmonary valve absence coexisting coronary-right ventricular fistula. ⁶²	Fujita S...Shiose A	34519992	2021
42	MRI characterization of hemodynamic patterns of human fetuses with cyanotic congenital heart disease. ⁶²	Sun L...Seed M	34097323	2021
43	Common Arterial Trunk Associated with Functionally Univentricular Heart: Anatomical Study and Review of the Literature. ⁶²	Chatila S...Bonnet D	34940530	2021
44	Mechanical thrombectomy of COVID-19 DVT with congenital heart disease leading to phlegmasia cerulea dolens: a case report. ⁶²	Jamshidi N...Lin J	34886795	2021
45	Reoperation after modified Björk procedure for tricuspid atresia. ⁶²	Chatti S...Denguir R	35527764	2021
46	Anesthetic Management of Resection of Metastatic Occipital Malignancy in a Patient With Fontan Physiology. ⁶²	Mehkri Y...Panjeton GD	34786248	2021
47	Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family. ⁶²	Li B...Xu R	34363434	2021
48	Emergency Department Presentation and Outcome of Children With Cyanotic Congenital Heart Diseases. ⁶²	Ilyas S...Akbar A	34660148	2021
49	Temporal progression of P wave abnormality in a patient with classical or atriopulmonary Fontan. ⁶²	Kohli U...Rhodes L	34416667	2021
50	Double trouble: A hitherto undescribed association of tricuspid atresia and common arterial trunk! ⁶²	Deshpande AA...Ramakrishnan S	34053105	2021

Sources

Genes for Tricuspid Atresia

Genes related to Tricuspid Atresia (0 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	13.9	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
2	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	13.84	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
3	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	13.11	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
4	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	10.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
5	PRODH	Proline Dehydrogenase 1	Protein Coding	6.92	DISEASES inferred ¹⁴ ¹⁴
6	NKX2-5	NK2 Homeobox 5	Protein Coding	6.32	DISEASES inferred ¹⁴
7	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	6.18	DISEASES inferred ¹⁴
8	TBX20	T-Box Transcription Factor 20	Protein Coding	6.1	DISEASES inferred ¹⁴
9	TBX5	T-Box Transcription Factor 5	Protein Coding	5.94	DISEASES inferred ¹⁴
10	GATA4	GATA Binding Protein 4	Protein Coding	5.83	DISEASES inferred ¹⁴
11	TBX1	T-Box Transcription Factor 1	Protein Coding	5.62	DISEASES inferred ¹⁴
12	ZIC3	Zic Family Member 3	Protein Coding	5.4	DISEASES inferred ¹⁴
13	CFC1	Cripto, FRL-1, Cryptic Family 1	Protein Coding	5.36	DISEASES inferred ¹⁴
14	CCDC142	Coiled-Coil Domain Containing 142	Protein Coding	5.18	DISEASES inferred ¹⁴
15	GOLGA8H	Golgin A8 Family Member H	Protein Coding	5.12	DISEASES inferred ¹⁴
16	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	5.1	DISEASES inferred ¹⁴
17	GATA6	GATA Binding Protein 6	Protein Coding	5.07	DISEASES inferred ¹⁴
18	GOLGA8T	Golgin A8 Family Member T	Protein Coding	5.02	DISEASES inferred ¹⁴
19	GOLGA8Q	Golgin A8 Family Member Q	Protein Coding	4.99	DISEASES inferred ¹⁴
20	ISL1	ISL LIM Homeobox 1	Protein Coding	4.97	DISEASES inferred ¹⁴

Sources

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

Sources

Expression for Tricuspid Atresia

Search GEO for disease gene expression data for Tricuspid Atresia.

Sources

Pathways for Tricuspid Atresia

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

(show all 14)

#	Super pathways	Score	Top Affiliating Genes
1	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.66	NKX2-5 NFATC1 MEF2C HAND2 GATA4
2	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.27	TBX5 NKX2-5 MEF2C GATA4 CFC1
3	22q11.2 copy number variation syndrome ⁷⁴	11.88	TBX1 PRODH NKX2-5 HAND2
4	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.78	TBX5 NKX2-5 MEF2C ISL1 GATA4
5	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.68	TBX5 NKX2-5 MEF2C GATA4
6	Notch-mediated HES/HEY network ⁶¹	11.31	HEY2 GATA6 GATA4
7	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.26	ZIC3 NFATC1 MEF2C ISL1 GATA6 GATA4
8	Cardiac progenitor differentiation ⁷⁴	11.16	TBX5 TBX20 NKX2-5 MEF2C ISL1 GATA4
9	Heart development ⁷⁴	11.04	TBX5 TBX20 TBX1 NKX2-5 NFATC1 MEF2C
10	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.89	NKX2-5 MEF2C GATA4
11	15q13.3 copy number variation syndrome ⁷⁴	10.79	GOLGA8Q GOLGA8H
12	YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	10.67	GATA4 NKX2-5 TBX5
13	SRF and miRs in smooth muscle differentiation and proliferation ⁷⁴	10.55	NKX2-5 MEF2C
14	HOP Signaling ⁶⁴	10.27	NKX2-5 GATA4

Sources

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

Sources for Tricuspid Atresia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: TRC062 MIFTS: 54	Tricuspid Atresia Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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