MCID: DXT004
MIFTS: 36

Dextro-Looped Transposition of the Great Arteries

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Dextro-Looped Transposition of the Great Arteries

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

Name: Dextro-Looped Transposition of the Great Arteries 12 15
Ventriculoarterial Discordance with Atrioventricular Concordance 12 59
Congenitally Uncorrected Transposition of the Great Arteries 12 59
Congenitally Uncorrected Transposition of the Great Vessels 12 59
Isolated Ventriculoarterial Discordance 12 59
Transposition of the Great Arteries, Dextro-Looped 1 73
Arteries, Great, Transposition, Dextro-Looped 40
D-Tga 12

Characteristics:

Orphanet epidemiological data:

59
congenitally uncorrected transposition of the great arteries
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060770
ICD10 33 Q20.3
Orphanet 59 ORPHA860
ICD10 via Orphanet 34 Q20.3
UMLS 73 C1837341

Summaries for Dextro-Looped Transposition of the Great Arteries

Disease Ontology : 12 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.

MalaCards based summary : Dextro-Looped Transposition of the Great Arteries, also known as ventriculoarterial discordance with atrioventricular concordance, is related to isolated congenitally uncorrected transposition of the great arteries and transposition of the great arteries. An important gene associated with Dextro-Looped Transposition of the Great Arteries is GDF1 (Growth Differentiation Factor 1), and among its related pathways/superpathways are Developmental Biology and Mesodermal Commitment Pathway. The drugs Eplerenone and Mechlorethamine have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related phenotypes are cardiovascular system and embryo

Related Diseases for Dextro-Looped Transposition of the Great Arteries

Diseases in the Dextro-Looped Transposition of the Great Arteries family:

Transposition of the Great Arteries, Dextro-Looped 1 Dextro-Looped Transposition of the Great Arteries 3

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 isolated congenitally uncorrected transposition of the great arteries 33.7 CFC1 ZIC3
2 transposition of the great arteries 31.9 GDF1 MED13L ZIC3
3 dextro-looped transposition of the great arteries 3 12.8
4 congenitally uncorrected transposition of the great arteries with cardiac malformation 12.5
5 congenitally uncorrected transposition of the great arteries with coarctation 12.5
6 transposition of the great arteries, dextro-looped 1 12.1
7 tricuspid atresia 10.3 GDF1 NKX2-6
8 total anomalous pulmonary venous return 1 10.2 GDF1 NKX2-6
9 ebstein anomaly 10.2 GDF1 NKX2-6
10 pulmonary valve insufficiency 10.1 LEFTY2 NKX2-6
11 patent ductus arteriosus 1 10.0 GDF1 NKX2-6
12 atrioventricular septal defect 9.9 GDF1 NKX2-6
13 conotruncal heart malformations 9.8 CFC1 GDF1 NKX2-6
14 heart septal defect 9.8 CFC1 GDF1 NKX2-6
15 atrial heart septal defect 9.8 CFC1 GDF1 NKX2-6
16 mediastinitis 9.7 NKX2-6 RERE
17 heterotaxy 9.7 CFC1 ZIC3
18 ventricular septal defect 9.7 GDF1 NKX2-6
19 tricuspid valve disease 9.7 GDF1 NKX2-6 ZIC3
20 double outlet right ventricle 9.2 CFC1 GDF1 NKX2-6 ZIC3
21 visceral heterotaxy 9.0 CFC1 GDF1 LEFTY2 ZIC3
22 heart disease 9.0 CFC1 GDF1 NKX2-6 ZIC3

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



Diseases related to Dextro-Looped Transposition of the Great Arteries

Symptoms & Phenotypes for Dextro-Looped Transposition of the Great Arteries

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 FOXH1 GDF1 LEFTY2 NKX2-6 RERE ZIC3
2 embryo MP:0005380 9.73 FOXH1 GDF1 LEFTY2 NKX2-6 RERE ZIC3
3 growth/size/body region MP:0005378 9.63 FOXH1 GDF1 LEFTY2 NKX2-6 RERE ZIC3
4 craniofacial MP:0005382 9.62 FOXH1 GDF1 RERE ZIC3
5 normal MP:0002873 9.35 RERE ZIC3 FOXH1 GDF1 NKX2-6
6 respiratory system MP:0005388 9.02 FOXH1 GDF1 LEFTY2 NKX2-6 ZIC3

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

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 150310 443872
2
Mechlorethamine Approved, Investigational Phase 4 51-75-2 4033
3
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
4 diuretics Phase 4
5 Diuretics, Potassium Sparing Phase 4
6 Hormone Antagonists Phase 4
7 Hormones Phase 4
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9 Mineralocorticoid Receptor Antagonists Phase 4
10 Mineralocorticoids Phase 4
11 Natriuretic Agents Phase 4
12
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
13 Phosphodiesterase Inhibitors Phase 3,Phase 2
14 Vasodilator Agents Phase 3,Phase 2
15 Phosphodiesterase 5 Inhibitors Phase 3
16
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
17 Simendan Investigational Phase 2 131741-08-7
18 Anti-Arrhythmia Agents Phase 2
19 Protective Agents Phase 2
20 Antidotes Phase 2
21 Anti-Infective Agents Phase 2
22 Antioxidants Phase 2
23 Antiviral Agents Phase 2
24 Expectorants Phase 2
25 N-monoacetylcystine Phase 2
26 Pharmaceutical Solutions Phase 2
27 Respiratory System Agents Phase 2
28 Anticoagulants Phase 2
29 Blood Substitutes Phase 2
30 Dextrans Phase 2
31 Plasma Substitutes Phase 2
32 Epoetin alfa Phase 1, Phase 2 113427-24-0
33 Hematinics Phase 1, Phase 2
34
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 68602 5311068
35 Adrenergic Agents Phase 1
36 Adrenergic Agonists Phase 1
37 Adrenergic alpha-2 Receptor Agonists Phase 1
38 Adrenergic alpha-Agonists Phase 1
39 Analgesics Phase 1
40 Analgesics, Non-Narcotic Phase 1
41 Central Nervous System Depressants Phase 1
42 Hypnotics and Sedatives Phase 1
43 Neurotransmitter Agents Phase 1
44 Peripheral Nervous System Agents Phase 1
45
Dobutamine Approved Not Applicable 34368-04-2 36811
46 Adrenergic Antagonists
47 Adrenergic beta-Antagonists

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 Eplerenone in Systemic Right Ventricle Completed NCT00703352 Phase 4 Eplerenone
2 The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
3 Comparison of Hematocrit Levels in Infant Heart Surgery Completed NCT00006183 Phase 3
4 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
5 Effect of Phosphodiesterase-5 Inhibition With Tadalafil on SystEmic Right VEntricular Size and Function Recruiting NCT03049540 Phase 3 Tadalafil 20 MG;Placebo 20 MG
6 Levosimendan Administration in Neonates With Transposition of the Great Arteries Completed NCT01120106 Phase 2 levosimendan;placebo
7 N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study) Completed NCT00374088 Phase 2 N-acetylcysteine;Placebo
8 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
9 Erythropoetin Neuroprotection for Neonatal Cardiac Surgery Active, not recruiting NCT00513240 Phase 1, Phase 2 Erythropoetin;Normal saline
10 Autologous Umbilical Cord Blood Treatment of Neonate With CHD Not yet recruiting NCT03558269 Phase 1, Phase 2
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 MRI and Cardiopulmonary Exercise Capacity After Neonatal ASO) in Young Adults Unknown status NCT02415491 Not Applicable
13 Comparative Assessment of Coronary MR Angiography Vs Coronary Multislice CT After Coronary Artery Reimplantation in Children and Young Adults. Unknown status NCT02542345 Not Applicable
14 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829 Not Applicable
15 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
16 Effects of Beta-adrenergic in Adults w/Transposition of Great Arteries on Systemic Ventricular Function Completed NCT00313352
17 Physical Training in Transposition of the Great Arteries Completed NCT00837603 Not Applicable
18 CT Coronary Angiography After Arterial Switch Operation Completed NCT01153776 Not Applicable
19 Myocardial Contrast Echocardiography in Congenital Heart Disease Completed NCT00412685
20 Right Ventricular Hypertrophy After Atrial Switch and Cardiovascular Magnetic Resonance (CMR) Findings Completed NCT01430897
21 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
22 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
23 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
24 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
25 Genes Causing Ebstein's Anomaly Completed NCT00497705
26 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008 Not Applicable
27 Fibrosis, Valvular and Ventricular Function in Patients With TGA Recruiting NCT02588989
28 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
29 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
30 The Boston Circulatory Arrest Study: Antecedents and Correlates of Well-Being in Adults With Congenital Heart Disease Recruiting NCT03073122
31 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Recruiting NCT02184169 Not Applicable
32 A Pilot Study- Monitoring Cerebral Blood Flow in Neonates With Congenital Heart Defects Recruiting NCT03512613
33 Assessing Neurodevelopment in Congenital Heart Disease. Recruiting NCT02996630 Not Applicable
34 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
35 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
36 Surgical Planning for Reconstruction of Complex Heart Defects Recruiting NCT00972608
37 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
38 Late Function After Surgery for Transposition of the Great Arteries Enrolling by invitation NCT03078413
39 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 Not yet recruiting NCT03469843

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

Genetic Tests for Dextro-Looped Transposition of the Great Arteries

Anatomical Context for Dextro-Looped Transposition of the Great Arteries

MalaCards organs/tissues related to Dextro-Looped Transposition of the Great Arteries:

41
Heart, Testes

Publications for Dextro-Looped Transposition of the Great Arteries

Variations for Dextro-Looped Transposition of the Great Arteries

Expression for Dextro-Looped Transposition of the Great Arteries

Search GEO for disease gene expression data for Dextro-Looped Transposition of the Great Arteries.

Pathways for Dextro-Looped Transposition of the Great Arteries

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 CFC1 FOXH1 GDF1 LEFTY2 MED13L ZIC3
2
Show member pathways
11.81 FOXH1 LEFTY2 ZIC3
3 11.02 FOXH1 LEFTY2
4
Show member pathways
10.62 CFC1 FOXH1 GDF1 LEFTY2

GO Terms for Dextro-Looped Transposition of the Great Arteries

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.88 FOXH1 MED13L NKX2-6 RERE ZIC3
2 regulation of transcription by RNA polymerase II GO:0006357 9.81 FOXH1 MED13L NKX2-6 RERE
3 multicellular organism development GO:0007275 9.65 CFC1 LEFTY2 NKX2-6 RERE ZIC3
4 transforming growth factor beta receptor signaling pathway GO:0007179 9.49 FOXH1 LEFTY2
5 SMAD protein signal transduction GO:0060395 9.46 GDF1 LEFTY2
6 heart looping GO:0001947 9.43 FOXH1 ZIC3
7 cell development GO:0048468 9.4 GDF1 LEFTY2
8 regulation of MAPK cascade GO:0043408 9.37 GDF1 LEFTY2
9 anterior/posterior pattern specification GO:0009952 9.33 CFC1 FOXH1 ZIC3
10 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.32 GDF1 LEFTY2
11 BMP signaling pathway GO:0030509 9.13 CFC1 GDF1 LEFTY2
12 determination of left/right symmetry GO:0007368 8.8 CFC1 FOXH1 ZIC3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.46 FOXH1 NKX2-6 RERE ZIC3
2 transforming growth factor beta receptor binding GO:0005160 8.96 GDF1 LEFTY2
3 sequence-specific DNA binding GO:0043565 8.92 FOXH1 NKX2-6 RERE ZIC3

Sources for Dextro-Looped Transposition of the Great Arteries

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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