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DTGA
MCID: TRN079
MIFTS: 69

Transposition of the Great Arteries, Dextro-Looped (DTGA)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Transposition of the Great Arteries, Dextro-Looped

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MalaCards integrated aliases for Transposition of the Great Arteries, Dextro-Looped:

Name: Transposition of the Great Arteries, Dextro-Looped 57 28 5
Transposition of the Great Arteries 19 58 28 5 33
Dextro-Looped Transposition of the Great Arteries 11 19 14
Dtga1 57 11 73
Ventriculoarterial Discordance with Atrioventricular Concordance 11 58
Congenitally Uncorrected Transposition of the Great Arteries 11 58
Congenitally Uncorrected Transposition of the Great Vessels 11 58
Transposition of the Great Arteries, Dextro-Looped 1 12 71
Isolated Ventriculoarterial Discordance 11 58
Great Vessels Transposition 75 33
D-Tga 11 73
Dtga 57 19
Complete Tga - [transposition of the Great Arteries] 33
Transposition of the Great Arteries Dextro-Looped 1 73
Arteries, Great, Transposition, Dextro-Looped 38
Dextro-Transposition of the Great Arteries 58
Ventriculoarterial Discordance, Isolated 19
Discordant Ventriculoarterial Connection 33
Complete Transposition of Great Vessels 33
Tga - [transposition of Great Arteries] 33
Tgv - [transposition of Great Vessels] 33
D-Transposition of the Great Arteries 58
Great Vessels Complete Transposition 33
Transposition of the Great Vessels 58
Transposition of Great Vessels Nos 33
Total Great Vessel Transposition 33
Transposition of Great Arteries 33
Transposition of Great Vessels 75
Complete Transposition 58
Transposed Vessels Nos 33
Tga 58
Tgv 58

Characteristics:


Inheritance:

Transposition of the Great Arteries, Dextro-Looped: Autosomal dominant 57
Congenitally Uncorrected Transposition of the Great Arteries: Multigenic/multifactorial 58
Transposition of the Great Arteries: Multigenic/multifactorial 58

Prevelance:

Congenitally Uncorrected Transposition of the Great Arteries: 1-5/10000 (Europe) 58
Transposition of the Great Arteries: 1-5/10000 (Europe, United States, Belgium, Denmark, France, Germany, Hungary, Ireland, Italy, Netherlands, Norway, Poland, Spain, Switzerland, United Kingdom, Ukraine) 1-9/100000 (Portugal) 58

Age Of Onset:

Congenitally Uncorrected Transposition of the Great Arteries: Infancy,Neonatal 58
Transposition of the Great Arteries: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
incomplete penetrance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Sources

Summaries for Transposition of the Great Arteries, Dextro-Looped

About this section

OMIM®: 57 The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. (608808) (Updated 08-Dec-2022)

MalaCards based summary: Transposition of the Great Arteries, Dextro-Looped, also known as transposition of the great arteries, is related to congenital heart defects, multiple types, 6 and isolated congenitally uncorrected transposition of the great arteries. An important gene associated with Transposition of the Great Arteries, Dextro-Looped is MED13L (Mediator Complex Subunit 13L), and among its related pathways/superpathways are Nervous system development and Human Embryonic Stem Cell Pluripotency. The drugs Mechlorethamine and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and brain, and related phenotypes are tachycardia and hypoxemia

GARD: 19 Transposition of the great arteries (TGA) is a type of congenital heart defect in which there is a reversal of the normal connections of the aorta and the pulmonary artery with the heart. The aorta and pulmonary artery are reversed, which causes oxygen-poor blood to be circulated to the body and oxygen-rich blood to be circulated between the lungs and the heart, rather than to the body. Symptoms are apparent at birth and include great difficulty breathing and severe cyanosis (a bluish discoloration of the skin). The exact cause of TGA in most cases is unknown. Surgery is done to correct the abnormality during the first few days of life.

UniProtKB/Swiss-Prot: 73 A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.

Orphanet: 58 Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance.

Disease Ontology: 11 A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.

Wikipedia: 75 Transposition of the great vessels (TGV) is a group of congenital heart defects involving an abnormal... more...
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Related Diseases for Transposition of the Great Arteries, Dextro-Looped

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Diseases related to Transposition of the Great Arteries, Dextro-Looped via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 474)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, multiple types, 6 33.4 GDF1 CERS1
2 isolated congenitally uncorrected transposition of the great arteries 33.0 ZIC3 MED13L GDF1 CFC1
3 congenital heart defects, multiple types, 4 32.4 GATA4 CRELD1
4 ebstein anomaly 31.5 TBX5 NODAL NKX2-5 GATA4
5 tricuspid valve disease 31.0 TBX5 NKX2-5 GATA4
6 aortic valve disease 1 31.0 TBX5 NKX2-5 MIR423 GATA4 BMP2
7 atrioventricular block 30.6 TBX5 NKX2-5 GATA4
8 sinoatrial node disease 30.5 TBX5 NKX2-5
9 heart, malformation of 30.5 TBX5 NODAL GDF1 CERS1
10 patent foramen ovale 30.4 ZIC3 TBX5 NKX2-5 MED13L GATA4
11 orthostatic intolerance 30.4 TBX5 NKX2-5 MIR423
12 conotruncal heart malformations 30.4 NKX2-5 GDF1
13 interatrial communication 30.4 TBX5 NKX2-5
14 aortic valve disease 2 30.3 TBX5 NKX2-5 MIR423 GATA4 BMP2
15 patent ductus arteriosus 1 30.3 ZIC3 TBX5 PITX2 NODAL NKX2-5 GATA4
16 char syndrome 30.2 ZIC3 TBX5 PITX2 CRELD1 CFC1
17 pulmonary valve stenosis 30.2 ZIC3 TBX5 NKX2-5 GATA4 CFC1
18 tricuspid atresia 30.2 ZIC3 TBX5 NKX2-5 GATA4 CFC1
19 situs inversus 30.1 ZIC3 PITX2 NODAL GDF1 DAW1 CFC1
20 primary ciliary dyskinesia 30.1 ZIC3 PITX2 NODAL GDF1 DAW1 CRELD1
21 ventricular septal defect 30.1 ZIC3 TBX5 PITX2 NODAL NKX2-5 MIR423
22 wolff-parkinson-white syndrome 30.0 TBX5 NODAL NKX2-5 BMP2
23 double outlet right ventricle 29.9 ZIC3 TBX5 PITX2 NODAL NKX2-5 GDF1
24 chromosome 22q11.2 deletion syndrome, distal 29.8 ZIC3 TBX5 NKX2-5 MED13L GATA4 CRELD1
25 atrial heart septal defect 29.8 ZIC3 TBX5 PITX2 NODAL NKX2-5 GATA4
26 tetralogy of fallot 29.8 ZIC3 TBX5 PITX2 NODAL NKX2-5 MIR423
27 total anomalous pulmonary venous return 1 29.8 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
28 heart septal defect 29.8 ZIC3 TBX5 PITX2 NODAL NKX2-5 MIR423
29 hypoplastic left heart syndrome 29.7 ZIC3 TBX5 NODAL NKX2-5 GATA4 CRELD1
30 right atrial isomerism 29.6 ZIC3 TBX5 PITX2 NODAL NKX2-5 GDF1
31 visceral heterotaxy 29.6 ZIC3 PITX2 NODAL NKX2-5 GDF1 FOXH1
32 atrioventricular septal defect 29.5 ZIC3 TBX5 PITX2 NODAL NKX2-5 GDF1
33 heart disease 29.4 ZIC3 TBX5 PITX2 NODAL NKX2-5 MIR423
34 congenitally uncorrected transposition of the great arteries with cardiac malformation 11.7
35 congenitally uncorrected transposition of the great arteries with coarctation 11.7
36 impaired intellectual development and distinctive facial features with or without cardiac defects 11.5
37 transposition of the great arteries and conotruncal cardiac anomaly 11.5
38 vertebral, cardiac, renal, and limb defects syndrome 3 11.5
39 heart defects, congenital, and other congenital anomalies 11.4
40 transient global amnesia 11.4
41 heterotaxy, visceral, 1, x-linked 11.3
42 heterotaxy, visceral, 6, autosomal 11.3
43 congenital heart defects, multiple types, 5 11.3
44 med13l haploinsufficiency syndrome 11.3
45 straddling and/or overriding mitral valve 11.3
46 short-rib thoracic dysplasia 3 with or without polydactyly 11.3
47 hyperthermia induced defects 11.3
48 maternal hyperthermia-induced birth defects 11.3
49 straddling or overriding tricuspid valve 11.3
50 hypoplastic left heart syndrome 1 10.6

Graphical network of the top 20 diseases related to Transposition of the Great Arteries, Dextro-Looped:



Diseases related to Transposition of the Great Arteries, Dextro-Looped
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Symptoms & Phenotypes for Transposition of the Great Arteries, Dextro-Looped

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Human phenotypes related to Transposition of the Great Arteries, Dextro-Looped:

58 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tachycardia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001649
2 hypoxemia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012418
3 cyanosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000961
4 heart murmur 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0030148
5 cardiac shunt 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001693
6 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001508
7 hyperhidrosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000975
8 cardiomegaly 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001640
9 congestive heart failure 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001635
10 atrial septal defect 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001631
11 patent ductus arteriosus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001643
12 abnormal pulmonary valve morphology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001641
13 ventricular septal defect 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001629
14 abnormal mitral valve morphology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001633
15 tachypnea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002789
16 anomalous pulmonary venous return 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010772
17 left ventricular outflow tract obstruction 58 30 Frequent (33%) Frequent (79-30%)
 HP:0032092
18 biventricular hypertrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0200128
19 right ventricular hypertrophy 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001667
20 abnormal coronary artery morphology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006704
21 abnormal qrs complex 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025074
22 dextrotransposition of the great arteries 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031348
23 levotransposition of the great arteries 58 30 Frequent (33%) Frequent (79-30%)
 HP:0031349
24 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002240
25 coarctation of aorta 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001680
26 interrupted aortic arch 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011611
27 hypoplastic aortic arch 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0012304
28 small for gestational age 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001518
29 maternal diabetes 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0009800
30 maternal teratogenic exposure 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0011438
31 abnormal aortic arch morphology 58 Frequent (79-30%)
32 transposition of the great arteries 30 HP:0001669
33 abnormality of blood circulation 58 Very frequent (99-80%)
34 abnormal ventriculoarterial connection 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Vascular:
dextro-looped transposition of the great arteries

Clinical features from OMIM®:

608808 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Transposition of the Great Arteries, Dextro-Looped according to GeneCards Suite gene sharing:

25 (show all 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ACVR1B BMP2 C1S CERS1 CFC1 CLXN
2 no effect GR00402-S-2 10.14 ACVR1B C1S CERS1 CLXN CRELD1 DAW1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.03 FOXH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.03 TBX5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-108 10.03 FOXH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.03 CLXN
7 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.03 NODAL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.03 NODAL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.03 CLXN
10 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.03 CLXN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-145 10.03 NODAL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.03 NODAL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-155 10.03 NODAL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.03 CLXN
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.03 FOXH1 NODAL
16 Increased shRNA abundance (Z-score > 2) GR00366-A-167 10.03 CLXN
17 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.03 CLXN
18 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.03 NODAL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10.03 FOXH1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-181 10.03 CLXN
21 Increased shRNA abundance (Z-score > 2) GR00366-A-209 10.03 FOXH1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.03 CLXN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.03 TBX5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-69 10.03 TBX5
25 Increased shRNA abundance (Z-score > 2) GR00366-A-98 10.03 TBX5

MGI Mouse Phenotypes related to Transposition of the Great Arteries, Dextro-Looped:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ACVR1B BMP2 CERS1 CFC1 CLXN DAW1
2 nervous system MP:0003631 10.27 ACVR1B BMP2 CERS1 CLXN CRELD1 FOXH1
3 embryo MP:0005380 10.25 ACVR1B BMP2 CFC1 CLXN CRELD1 FOXH1
4 normal MP:0002873 10.21 ACVR1B BMP2 FOXH1 GATA4 GDF1 NKX2-5
5 digestive/alimentary MP:0005381 10.14 ACVR1B BMP2 CFC1 DAW1 FOXH1 GATA4
6 cellular MP:0005384 10.1 ACVR1B BMP2 CERS1 CLXN CRELD1 DAW1
7 cardiovascular system MP:0005385 10.07 BMP2 CFC1 CLXN CRELD1 DAW1 FOXH1
8 liver/biliary system MP:0005370 10.02 CFC1 DAW1 GATA4 GDF1 NODAL PITX2
9 craniofacial MP:0005382 10.02 ACVR1B BMP2 CRELD1 FOXH1 GDF1 NKX2-5
10 respiratory system MP:0005388 9.9 ACVR1B CFC1 CLXN DAW1 FOXH1 GATA4
11 skeleton MP:0005390 9.65 ACVR1B BMP2 CFC1 FOXH1 GATA4 GDF1
12 mortality/aging MP:0010768 9.47 ACVR1B BMP2 CERS1 CFC1 CLXN CRELD1
Sources

Drugs & Therapeutics for Transposition of the Great Arteries, Dextro-Looped

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Drugs for Transposition of the Great Arteries, Dextro-Looped (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
2
Eplerenone Approved Phase 4 107724-20-9 443872
3 Hormones Phase 4
4 Antihypertensive Agents Phase 4
5 Hormone Antagonists Phase 4
6 Diuretics, Potassium Sparing Phase 4
7 diuretics Phase 4
8 Mineralocorticoids Phase 4
9 Mineralocorticoid Receptor Antagonists Phase 4
10
Nitric Oxide Approved Phase 3 10102-43-9 145068
11
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
12 Neurotransmitter Agents Phase 3
13 Bronchodilator Agents Phase 3
14 Endothelium-Dependent Relaxing Factors Phase 3
15 Anti-Asthmatic Agents Phase 3
16 Phosphodiesterase Inhibitors Phase 3
17 Phosphodiesterase 5 Inhibitors Phase 3
18 Vasodilator Agents Phase 3
19
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
20
Simendan Investigational Phase 2 131741-08-7
21
Epoetin Alfa Phase 1, Phase 2
22 Hematinics Phase 1, Phase 2
23 Cardiotonic Agents Phase 2
24 Phosphodiesterase 3 Inhibitors Phase 2
25 Protective Agents Phase 2
26 Respiratory System Agents Phase 2
27 Antioxidants Phase 2
28 Pharmaceutical Solutions Phase 2
29 Antiviral Agents Phase 2
30 Anti-Infective Agents Phase 2
31 Expectorants Phase 2
32 Antidotes Phase 2
33 N-monoacetylcystine Phase 2
34 Blood Substitutes Phase 2
35 Anticoagulants Phase 2
36 Plasma Substitutes Phase 2
37 Dextrans Phase 2
38
Dexmedetomidine Approved, Experimental, Vet_approved Phase 1 86347-14-0, 113775-47-6 68602 5311068
39 Adrenergic alpha-Agonists Phase 1
40 Adrenergic Agonists Phase 1
41 Adrenergic Agents Phase 1
42 Hypnotics and Sedatives Phase 1
43 Analgesics, Non-Narcotic Phase 1
44 Analgesics Phase 1
45
Dobutamine Approved 34368-04-2 36811
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47
Tannic acid Approved 1401-55-4 16129878 16129778
48 3-Iodobenzylguanidine
49 Adrenergic beta-Antagonists
50 Adrenergic Antagonists

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Aldosterone Antagonists in Systemic Right Ventricle: a Randomized Clinical Trial. Completed NCT00703352 Phase 4 Eplerenone
2 Eplerenone to Prevent Myocardial Fibrosis in Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
3 A Randomised Controlled Trial of Nitric Oxide Administration During Cardiopulmonary Bypass in Infants Undergoing Arterial Switch Operation for Repair of Transposition of the Great Arteries Unknown status NCT03661385 Phase 3 Nitric Oxide
4 Effect of Phosphodiesterase-5 Inhibition With Tadalafil on SystEmic Right VEntricular Size and Function - a Multi-center, Double-blind, Randomized, Placebo-controlled Clinical Trial - SERVE Trial Completed NCT03049540 Phase 3 Tadalafil 20 MG;Placebo 20 MG
5 Hematocrit Strategy in Infant Heart Surgery Completed NCT00006183 Phase 3
6 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
7 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Completed NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
8 Perioperative Levosimendan Administration in Neonates With Transposition of the Great Arteries: Randomized Controlled Trial Completed NCT01120106 Phase 2 levosimendan;placebo
9 Attenuation of Myocardial Dysfunction by N-Acetylcysteine in Infants Undergoing Arterial Switch Procedure Completed NCT00374088 Phase 2 N-acetylcysteine;Placebo
10 The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old. Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
11 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
12 Cardiovascular Magnetic Resonance at Rest and Stress in Relation to Cardiopulmonary Exercise Capacity in Young Adults After Arterial Switch Operation (ASO) for Transposition of the Great Arteries (TGA) Unknown status NCT02415491
13 Haemodynamics and Function of the Atria in Patients With Congenital Heart Defects - Pilot Study by Cardiovascular Magnetic Resonance Unknown status NCT02161471
14 A Retrospective Comparison of the Efficacy and Safety of Celsior® in Pediatric Cardiac Surgery for Transposition of the Great Vessels Unknown status NCT04616222 CELSIOR® group;Saint-Thomas group
15 The GECHO Trial: Genetic Determinants of Congenital Heart Disease Outcomes Completed NCT01656941
16 Characterization of the Cardiac Reinnervation of Patients With Transposition of the Great Arteries Long After Repair With the Arterial Switch Operation. Correlation With Electrocardiographic and Exercise Test Parameters Completed NCT03469843
17 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
18 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
19 Effects of Beta-adrenergic Blocking Agents in Adult Patients With Transposition of the Great Arteries on Systemic Ventricular Function Completed NCT00313352
20 Outcomes of Transposition of the Great Arteries After Arterial Switch Operation: a Dual-center Study Completed NCT05089773
21 CT Coronary Angiography for the Detection of Reimplanted Coronary Lesions in Patients Who Had Undergone Arterial Switch Operation for Transposition of the Great Arteries Completed NCT01153776
22 Right Ventricular Hypertrophy After Atrial Switch Operation and Its Role in a Systemic RV: Normal Adaptation Process or Risk Factor? A Cardiovascular Magnetic Resonance Study Completed NCT01430897
23 Influence of Physical Training on Cardiopulmonary Exercise Capacity and Right Ventricular Function in Patients With D-TGA and Atrial Switch Operation. Completed NCT00837603
24 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169
25 Quantification of the Myocardial Microcirculation by Contrast Echocardiography In Adult Patients With Congenital Heart Disease Completed NCT00412685
26 Influence of Timing of Switch Operation in Transposition of Great Arteries Completed NCT05160116
27 Sudden Cardiac Death in Congenital Heart Diseases With a Systemic Right Ventricle Completed NCT03833843
28 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
29 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
30 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas
31 Fibrosis, Valvular and Ventricular Function in Patients With Transposition of the Great Arteries Recruiting NCT02588989
32 Measurement of the Prevalence of Sensory Integration Disorders in Babies Having Heart Disease Surgery for Transposition of the Great Vessels Before 6 Months of Age Recruiting NCT05137873
33 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
34 The Boston Circulatory Arrest Study: Antecedents and Correlates of Well-Being in Adults With Congenital Heart Disease Active, not recruiting NCT03073122
35 Comprehensive Long-term Follow up of Adults With Arterial Switch Operation - European Collaboration for Prospective Outcome Research in Congenital Heart Disease Active, not recruiting NCT04335448
36 Cardiac Resynchronization Therapy in Adult Congenital Heart Disease With Systemic Right Ventricle: A Cross-Over Trial Not yet recruiting NCT05524324
37 Multimodal Imaging Evaluation and Prognostic Analysis of Participants With Transposition of the Great Arteries After Arterial Switch Operation: a Multi-site Clinical Study Not yet recruiting NCT04980339
38 The Canadian Registry for Adults With Congenital Heart Disease Interventions Not yet recruiting NCT04288596
39 MASA Valve Early Feasibility Study Not yet recruiting NCT05452720
40 Clinical Impact of Rapid Prototyping 3D Models of Congenital Heart Disease on Surgical Management Withdrawn NCT04788082
41 Initiation of Resuscitation While Attached to the Cord With Congenital Heart Disease - INSPIRE-CHD Withdrawn NCT03690245

Search NIH Clinical Center for Transposition of the Great Arteries, Dextro-Looped

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Genetic Tests for Transposition of the Great Arteries, Dextro-Looped

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Genetic tests related to Transposition of the Great Arteries, Dextro-Looped:

# Genetic test Affiliating Genes
1 Transposition of the Great Arteries, Dextro-Looped 28
2 Transposition of the Great Arteries 28
Sources

Anatomical Context for Transposition of the Great Arteries, Dextro-Looped

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Organs/tissues related to Transposition of the Great Arteries, Dextro-Looped:

MalaCards : Heart, Skin, Brain, Atrioventricular Node, Lung, Endothelial, Spinal Cord
ODiseA: Artery-Aorta, Artery, Heart-Atrium, Heart-Ventricle, Heart
Sources

Publications for Transposition of the Great Arteries, Dextro-Looped

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Articles related to Transposition of the Great Arteries, Dextro-Looped:

(show top 50) (show all 6862)
# Title Authors PMID Year
1
Redefining the MED13L syndrome. 62 5
25758992 2015
2
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 62 5
23403903 2013
3
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 62 57
14638541 2003
4
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. 62 57
11799476 2002
5
Occurrence of cardiac malformations in relatives of children with transposition of the great arteries. 62 57
8957507 1996
6
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 5
25712080 2015
7
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
8
Detection rates of a national fetal anomaly screening programme: A national cohort study. 62
36054171 2023
9
Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. 62
35995687 2022
10
Anemia after Pediatric Congenital Heart Surgery. 62
36388078 2022
11
Risk Factors for Perioperative Brain Lesions in Infants With Congenital Heart Disease: A European Collaboration. 62
36300371 2022
12
Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review. 62
36468281 2022
13
Safety and Efficacy of Sacubitril/Valsartan in Patients With a Failing Systemic Right Ventricle: A Prospective Single-Center Study. 62
36458541 2022
14
Functional assessment of atrial M-mode in 3rd trimester in the context of postnatal balloon atrial septostomy in fetuses with simple dextro-transposition of the great arteries. 62
35382672 2022
15
Severe Restriction of a VSD and Development of Pulmonary Atresia in a Patient with Transposition of the Great Arteries: Fetal Diagnosis. 62
35767020 2022
16
Outcome of Pregnancy in Women With D-Transposition of the Great Arteries: A Systematic Review. 62
36444833 2022
17
Contemporary outcomes of the double switch operation for congenitally corrected transposition of the great arteries. 62
35688715 2022
18
Commentary: Inverted coronary arteries mostly seen in complex forms of transposition of the great arteries. 62
35527052 2022
19
Perioperative Course and Socioeconomic Status Predict Long-Term Neurodevelopment Better Than Perioperative Conventional Neuroimaging in Children with Congenital Heart Disease. 62
35948191 2022
20
A tricky fetal case of isolated transposition of great arteries without the I-shaped sign. 62
36042690 2022
21
Exercise Capacity After Arterial Switch Operation in Patients with D-Transposition of Great Arteries: Does the Coronary Artery Anatomy Matter? 62
35482043 2022
22
Commentary: Time for a multi-institutional study for congenitally corrected transposition of great arteries? 62
35277247 2022
23
Renal Outcomes in Neonates and Infants with Transposition Physiology Undergoing Arterial Switch Procedure. 62
35569085 2022
24
Interhospital Aircraft/Ground Extracorporeal Membrane Oxygenation Transportation by a Mobile Extracorporeal Membrane Oxygenation Team: First Turkish Pediatric Case Series. 62
36314958 2022
25
Contraction patterns of the systemic right ventricle: a three-dimensional echocardiography study. 62
34928339 2022
26
Congenitally Corrected Transposition Cardiac Surgery: Society of Thoracic Surgeons Database Analysis. 62
35430223 2022
27
Septic pulmonary embolism secondary to prosthetic conduit fungal endocarditis in a child. 62
36401779 2022
28
Early Cerebrovascular Autoregulation in Neonates with Congenital Heart Disease. 62
36360414 2022
29
Out-of-hours versus in-hours delivery of antenatally diagnosed transposition of the great arteries: outcomes from a United Kingdom Tertiary Centre. 62
36325964 2022
30
Impact of pregnancy on natural history of systemic right ventricle in women with transposition of the great arteries. 62
35842002 2022
31
Predictors of mortality after atrial correction of transposition of the great arteries. 62
35851319 2022
32
A polygenic risk score after corrective surgery for transposition of the great arteries: Can genetics add value to clinical predictors of outcome? 62
36442671 2022
33
Magnetic Resonance Imaging Assessment of Right Ventricular Deformation in Patients With Transposition of the Great Arteries. 62
35699673 2022
34
Cardiac Resynchronization Therapy for Adult Patients With a Failing Systemic Right Ventricle: A Multicenter Study. 62
36346046 2022
35
Percutaneous repair of systemic atrioventricular valve regurgitation with the MitraClip-NT system in congenitally corrected transposition of great arteries. 62
36312769 2022
36
Prevalence, Risk Factors, and Impact of Preoperative Seizures in Neonates With Congenital Heart Disease. 62
33560701 2022
37
Pulmonary atresia with intact ventricular septum in the setting of D-transposition of the great arteries associated with hypoplastic left ventricle and severe mitral regurgitation. 62
35225203 2022
38
Acute myocardial infarction in a patient with congenitally corrected transposition of the great arteries and complex coronary anatomy-a case report. 62
36405539 2022
39
Transposition With Hypertrophic Cardiomyopathy and Persistent Pulmonary Hypertension of the Newborn. 62
35604788 2022
40
Total anomalous pulmonary venous connection with another major congenital cardiac defect in biventricular hearts. 62
36437568 2022
41
Transpositions of the great arteries versus aortic dextropositions. A review of some embryogenetic and morphological aspects. 62
36426596 2022
42
Preoperative in-hospital mortality in neonates with critical CHD. 62
34961569 2022
43
Aortic root translocation and en bloc rotation of the outflow tracts surgery for complex forms of transposition of the great arteries and double outlet right ventricle: A multicenter study. 62
36028361 2022
44
Imaging and surgical management of congenital heart diseases. 62
36334120 2022
45
Anomalous connection of the circumflex coronary artery to the pulmonary trunk in a patient with Taussig-Bing anomaly: a case report. 62
36381175 2022
46
Prepregnancy exposure to dietary arsenic and congenital heart defects. 62
36341763 2022
47
Common trunk anomaly of the anterior and posterior inferior cerebellar artery in hemifacial spasm. 62
35524812 2022
48
Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey. 62
36326140 2022
49
Single-stage arterial switch operation conversion with dextro-transposition of the great arteries and pulmonary arterial hypertension due to baffle leak after a Senning procedure. 62
36312768 2022
50
Perioperative Hemostatic Management of a Newborn With Hereditary Hemophilia A Undergoing Emergent Surgery for Dextro-Transposition of the Great Arteries. 62
35879147 2022
Sources

Variations for Transposition of the Great Arteries, Dextro-Looped

About this section

ClinVar genetic disease variations for Transposition of the Great Arteries, Dextro-Looped:

5 (show top 50) (show all 231)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA4 NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) SNV Pathogenic
 9030 rs104894073 GRCh37: 8:11607722-11607722
GRCh38: 8:11750213-11750213
2 MED13L NM_015335.5(MED13L):c.5502del (p.His1834fs) DEL Pathogenic
 620030 rs1565987758 GRCh37: 12:116413406-116413406
GRCh38: 12:115975601-115975601
3 MED13L NM_015335.5(MED13L):c.2316_2317del (p.Met772fs) DEL Pathogenic
 567731 rs1566005476 GRCh37: 12:116444138-116444139
GRCh38: 12:116006333-116006334
4 MED13L NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) SNV Pathogenic
 568975 rs1029377279 GRCh37: 12:116460285-116460285
GRCh38: 12:116022480-116022480
5 MED13L NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) INDEL Pathogenic
 570875 rs1565997261 GRCh37: 12:116429238-116429240
GRCh38: 12:115991433-115991435
6 MED13L NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter) SNV Pathogenic
 572855 rs1565995034 GRCh37: 12:116424951-116424951
GRCh38: 12:115987146-115987146
7 MED13L NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) SNV Pathogenic
 801022 rs1870202051 GRCh37: 12:116675320-116675320
GRCh38: 12:116237515-116237515
8 MED13L NM_015335.5(MED13L):c.1405dup (p.Thr469fs) DUP Pathogenic
 1071342 GRCh37: 12:116446812-116446813
GRCh38: 12:116009007-116009008
9 MED13L NC_000012.12:g.(?_115961246)_(116096772_?)del DEL Pathogenic
 833087 GRCh37: 12:116399051-116534577
GRCh38:
10 MED13L NM_015335.5(MED13L):c.712G>T (p.Glu238Ter) SNV Pathogenic
 947607 rs1879953298 GRCh37: 12:116457691-116457691
GRCh38: 12:116019886-116019886
11 MED13L NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) DEL Pathogenic
 973240 rs1879651226 GRCh37: 12:116452996-116453012
GRCh38: 12:116015191-116015207
12 MED13L NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) DUP Pathogenic
 984811 rs1876520009 GRCh37: 12:116408475-116408476
GRCh38: 12:115970670-115970671
13 MED13L NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) INDEL Pathogenic
 967001 rs1877685759 GRCh37: 12:116424119-116424120
GRCh38: 12:115986314-115986315
14 ACVR1B NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile) SNV Pathogenic
 1174607 GRCh37: 12:52377883-52377883
GRCh38: 12:51984099-51984099
15 BMP2 NM_001200.4(BMP2):c.962A>T (p.His321Leu) SNV Pathogenic
 1703210 GRCh37: 20:6759507-6759507
GRCh38: 20:6778860-6778860
16 MED13L NM_015335.5(MED13L):c.1176-1G>A SNV Likely Pathogenic
 577695 rs1566010195 GRCh37: 12:116450707-116450707
GRCh38: 12:116012902-116012902
17 MED13L NM_015335.5(MED13L):c.3935-1G>A SNV Likely Pathogenic
 578927 rs1565995146 GRCh37: 12:116425094-116425094
GRCh38: 12:115987289-115987289
18 MED13L NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) SNV Likely Pathogenic
 620012 rs1565981137 GRCh37: 12:116401224-116401224
GRCh38: 12:115963419-115963419
19 MED13L NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) SNV Likely Pathogenic
 427897 rs1555246154 GRCh37: 12:116435026-116435026
GRCh38: 12:115997221-115997221
20 MED13L NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) SNV Conflicting Interpretations Of Pathogenicity
 936409 rs142907547 GRCh37: 12:116429545-116429545
GRCh38: 12:115991740-115991740
21 MED13L NM_015335.5(MED13L):c.805G>A (p.Val269Ile) SNV Uncertain Significance
 936554 rs1879944991 GRCh37: 12:116457598-116457598
GRCh38: 12:116019793-116019793
22 MED13L NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala) SNV Uncertain Significance
 957373 rs752521430 GRCh37: 12:116421301-116421301
GRCh38: 12:115983496-115983496
23 MED13L NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe) SNV Uncertain Significance
 963897 rs753868437 GRCh37: 12:116445440-116445440
GRCh38: 12:116007635-116007635
24 MED13L NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) SNV Uncertain Significance
 1003426 rs757359386 GRCh37: 12:116443793-116443793
GRCh38: 12:116005988-116005988
25 MED13L NM_015335.5(MED13L):c.1185A>C (p.Gln395His) SNV Uncertain Significance
 1003545 rs374884525 GRCh37: 12:116450697-116450697
GRCh38: 12:116012892-116012892
26 MED13L NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) SNV Uncertain Significance
 1007935 rs1879225158 GRCh37: 12:116446795-116446795
GRCh38: 12:116008990-116008990
27 MED13L NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) SNV Uncertain Significance
 1010663 rs750422287 GRCh37: 12:116434465-116434465
GRCh38: 12:115996660-115996660
28 MED13L NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) SNV Uncertain Significance
 1015642 rs774432060 GRCh37: 12:116403927-116403927
GRCh38: 12:115966122-115966122
29 MED13L NM_015335.5(MED13L):c.603G>T (p.Gln201His) SNV Uncertain Significance
 835348 rs1880117720 GRCh37: 12:116460283-116460283
GRCh38: 12:116022478-116022478
30 MED13L NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) SNV Uncertain Significance
 841884 rs764385703 GRCh37: 12:116434445-116434445
GRCh38: 12:115996640-115996640
31 MED13L NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala) SNV Uncertain Significance
 843633 rs1877746863 GRCh37: 12:116424922-116424922
GRCh38: 12:115987117-115987117
32 MED13L NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg) SNV Uncertain Significance
 1373022 GRCh37: 12:116446909-116446909
GRCh38: 12:116009104-116009104
33 MED13L NM_015335.5(MED13L):c.473A>G (p.Asn158Ser) SNV Uncertain Significance
 1389872 GRCh37: 12:116534480-116534480
GRCh38: 12:116096675-116096675
34 MED13L NM_015335.5(MED13L):c.3355G>A (p.Val1119Met) SNV Uncertain Significance
 1404911 GRCh37: 12:116429404-116429404
GRCh38: 12:115991599-115991599
35 MED13L NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala) SNV Uncertain Significance
 1372828 GRCh37: 12:116446828-116446828
GRCh38: 12:116009023-116009023
36 MED13L NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr) SNV Uncertain Significance
 1380170 GRCh37: 12:116418620-116418620
GRCh38: 12:115980815-115980815
37 MED13L NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr) SNV Uncertain Significance
 1440477 GRCh37: 12:116675459-116675459
GRCh38: 12:116237654-116237654
38 MED13L NM_015335.5(MED13L):c.1924G>C (p.Asp642His) SNV Uncertain Significance
 1444844 GRCh37: 12:116446294-116446294
GRCh38: 12:116008489-116008489
39 MED13L NM_015335.5(MED13L):c.593A>C (p.His198Pro) SNV Uncertain Significance
 1490441 GRCh37: 12:116460293-116460293
GRCh38: 12:116022488-116022488
40 MED13L NM_015335.5(MED13L):c.1784T>C (p.Leu595Pro) SNV Uncertain Significance
 1435147 GRCh37: 12:116446434-116446434
GRCh38: 12:116008629-116008629
41 MED13L NM_015335.5(MED13L):c.4508C>T (p.Ala1503Val) SNV Uncertain Significance
 1494217 GRCh37: 12:116422008-116422008
GRCh38: 12:115984203-115984203
42 MED13L NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg) SNV Uncertain Significance
 1487223 GRCh37: 12:116446693-116446693
GRCh38: 12:116008888-116008888
43 MED13L NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser) SNV Uncertain Significance
 1511864 GRCh37: 12:116450659-116450659
GRCh38: 12:116012854-116012854
44 MED13L NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr) SNV Uncertain Significance
 1044216 rs1876852244 GRCh37: 12:116412991-116412991
GRCh38: 12:115975186-115975186
45 MED13L NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) SNV Uncertain Significance
 1062651 GRCh37: 12:116413437-116413437
GRCh38: 12:115975632-115975632
46 MED13L NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys) SNV Uncertain Significance
 1036279 rs757111256 GRCh37: 12:116422045-116422045
GRCh38: 12:115984240-115984240
47 MED13L NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu) SNV Uncertain Significance
 1040460 rs200257416 GRCh37: 12:116445337-116445337
GRCh38: 12:116007532-116007532
48 MED13L NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu) SNV Uncertain Significance
 1042751 rs1879015895 GRCh37: 12:116443675-116443675
GRCh38: 12:116005870-116005870
49 MED13L NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr) SNV Uncertain Significance
 567228 rs1565997289 GRCh37: 12:116429280-116429280
GRCh38: 12:115991475-115991475
50 MED13L NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys) SNV Uncertain Significance
 464489 rs375719087 GRCh37: 12:116440889-116440889
GRCh38: 12:116003084-116003084
Sources

Expression for Transposition of the Great Arteries, Dextro-Looped

About this section
Search GEO for disease gene expression data for Transposition of the Great Arteries, Dextro-Looped.
Sources

Pathways for Transposition of the Great Arteries, Dextro-Looped

About this section

Pathways related to Transposition of the Great Arteries, Dextro-Looped according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Nervous system development 66
Show member pathways
 13.51 ZIC3 NODAL MED13L H2BC3 GDF1 GATA4
2
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.08 TBX5 NKX2-5 GATA4 CFC1 BMP2 ACVR1B
3
Mesodermal commitment pathway 74
11.93 ZIC3 PITX2 NODAL FOXH1
4
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 65
11.86 TBX5 NODAL NKX2-5 GATA4
5
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.68 TBX5 NKX2-5 GATA4 BMP2
6
Endoderm differentiation 74
11.54 NODAL GATA4 FOXH1
7
Cardiac progenitor differentiation 74
11.28 TBX5 NODAL NKX2-5 GATA4
8
Cardiomyocyte Differentiation through BMP Receptors 64
10.89 BMP2 GATA4 NKX2-5
9
Signaling by NODAL 66
Show member pathways
 10.87 NODAL GDF1 FOXH1 CFC1 ACVR1B
10
Heart development 74
10.77 TBX5 PITX2 NKX2-5 GATA4 FOXH1 BMP2
11
YAP1- and WWTR1 (TAZ)-stimulated gene expression 66
10.67 TBX5 NKX2-5 GATA4
12
HOP Signaling 64
10.26 NKX2-5 GATA4
Sources

GO Terms for Transposition of the Great Arteries, Dextro-Looped

About this section

Biological processes related to Transposition of the Great Arteries, Dextro-Looped according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.53 BMP2 FOXH1 GATA4 NKX2-5 NODAL PITX2
2 SMAD protein signal transduction GO:0060395 10.09 NODAL GDF1 BMP2
3 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.07 NODAL GDF1 BMP2
4 cell fate commitment GO:0045165 10.03 NODAL GATA4 BMP2
5 heart looping GO:0001947 9.96 ZIC3 NODAL NKX2-5 GATA4 FOXH1
6 cardiac right ventricle morphogenesis GO:0003215 9.95 GATA4 FOXH1
7 atrioventricular valve morphogenesis GO:0003181 9.94 TBX5 BMP2
8 cardiac muscle tissue morphogenesis GO:0055008 9.94 NKX2-5 BMP2
9 atrial septum morphogenesis GO:0060413 9.93 GATA4 NKX2-5 TBX5
10 pericardium development GO:0060039 9.91 TBX5 BMP2
11 anterior/posterior pattern specification GO:0009952 9.91 ZIC3 NODAL FOXH1 CFC1
12 endocardial cushion development GO:0003197 9.91 TBX5 GATA4 CRELD1
13 positive regulation of activin receptor signaling pathway GO:0032927 9.9 NODAL ACVR1B
14 atrioventricular node development GO:0003162 9.88 GATA4 NKX2-5
15 axial mesoderm development GO:0048318 9.88 FOXH1 ZIC3
16 embryonic heart tube left/right pattern formation GO:0060971 9.87 PITX2 NKX2-5
17 atrioventricular node cell development GO:0060928 9.86 TBX5 NKX2-5
18 atrial cardiac muscle tissue development GO:0003228 9.85 ZIC3 NKX2-5
19 positive regulation of cardioblast differentiation GO:0051891 9.85 TBX5 NKX2-5 GATA4
20 bundle of His development GO:0003166 9.84 TBX5 NKX2-5
21 gastrulation GO:0007369 9.83 CFC1 NODAL ZIC3
22 primitive streak formation GO:0090009 9.8 ZIC3 NODAL
23 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.8 NODAL FOXH1
24 nodal signaling pathway GO:0038092 9.8 NODAL CFC1 ACVR1B
25 cardiac muscle cell differentiation GO:0055007 9.8 BMP2 GATA4 NKX2-5 TBX5
26 cardiac ventricle morphogenesis GO:0003208 9.79 GATA4 NKX2-5
27 atrioventricular node cell fate commitment GO:0060929 9.78 TBX5 NKX2-5
28 determination of left/right symmetry GO:0007368 9.65 CFC1 DAW1 FOXH1 NODAL PITX2 ZIC3
29 embryonic heart tube anterior/posterior pattern specification GO:0035054 9.63 GATA4 FOXH1 BMP2
30 heart development GO:0007507 9.4 ZIC3 TBX5 NODAL NKX2-5 GATA4 DAW1

Molecular functions related to Transposition of the Great Arteries, Dextro-Looped according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.96 ZIC3 TBX5 NKX2-5 GATA4 FOXH1
2 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.76 TBX5 PITX2 NKX2-5 GATA4
3 DNA-binding transcription factor activity GO:0003700 9.73 ZIC3 TBX5 PITX2 NKX2-5 GATA4 FOXH1
4 co-SMAD binding GO:0070410 9.62 GATA4 FOXH1
5 SMAD binding GO:0046332 9.1 FOXH1 BMP2 ACVR1B
Sources

Sources for Transposition of the Great Arteries, Dextro-Looped

About this section
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
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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