TGA
MCID: DXT004
MIFTS: 58

Dextro-Looped Transposition of the Great Arteries (TGA)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory 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 20 15
Transposition of the Great Arteries 20 58 29 6
Ventriculoarterial Discordance with Atrioventricular Concordance 12 20 58
Congenitally Uncorrected Transposition of the Great Vessels 12 20 58
Congenitally Uncorrected Transposition of the Great Arteries 12 58
Isolated Ventriculoarterial Discordance 12 58
Transposition of the Great Arteries, Dextro-Looped 1 70
Arteries, Great, Transposition, Dextro-Looped 39
Dextro-Transposition of the Great Arteries 58
Ventriculoarterial Discordance, Isolated 20
D-Transposition of the Great Arteries 58
Transposition of the Great Vessels 58
Complete Transposition 58
D-Tga 12
Dtga 20
Tga 58
Tgv 58

Characteristics:

Orphanet epidemiological data:

58
congenitally uncorrected transposition of the great arteries
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;
transposition of the great arteries
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (United States),1-5/10000 (Belgium),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-9/100000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060770
ICD10 32 Q20.3
ICD10 via Orphanet 33 Q20.3 Q20.5
UMLS via Orphanet 71 C0040761
UMLS 70 C1837341

Summaries for Dextro-Looped Transposition of the Great Arteries

GARD : 20 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.

MalaCards based summary : Dextro-Looped Transposition of the Great Arteries, also known as transposition of the great arteries, is related to congenitally corrected transposition of the great arteries and congenital heart defects, multiple types, 6. An important gene associated with Dextro-Looped Transposition of the Great Arteries is MED13L (Mediator Complex Subunit 13L), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. The drugs Nitric Oxide and Vasodilator Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and endothelial, and related phenotypes are Decreased viability and Decreased viability

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.

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 top 50) (show all 362)
# Related Disease Score Top Affiliating Genes
1 congenitally corrected transposition of the great arteries 33.7 NPPB NODAL
2 congenital heart defects, multiple types, 6 33.5 GDF1 CERS1
3 isolated congenitally uncorrected transposition of the great arteries 33.1 ZIC3 CFC1
4 conotruncal heart malformations 32.5 NKX2-5 GDF1 FOXH1 CERS1
5 congenital heart defects, multiple types, 4 32.3 GATA4 CRELD1
6 situs inversus 31.9 DNAI1 DNAH5 DNAH11
7 dextrocardia with situs inversus 31.4 PKD1L1 NODAL
8 heterotaxy 30.8 ZIC3 PKD1L1 NODAL GDF1 CFC1 CERS1
9 tricuspid valve disease 30.6 TBX5 NPPB NKX2-5 GATA4
10 aortic valve disease 2 30.6 TBX5 NPPB NKX2-5 GATA4
11 interatrial communication 30.4 TBX5 NKX2-5 GATA4
12 ebstein anomaly 30.3 TBX5 NODAL NKX2-5 GATA4
13 atrioventricular block 30.3 TBX5 NPPB NKX2-5 GATA4
14 sinoatrial node disease 30.2 TBX5 NKX2-5
15 tricuspid atresia 30.1 ZIC3 TBX5 NKX2-5 GATA4
16 heart, malformation of 30.1 TBX5 NODAL
17 ventricular septal defect 30.0 ZIC3 TBX5 NPPB NODAL NKX2-5 GDF1
18 patent ductus arteriosus 1 30.0 ZIC3 TBX5 NPPB NODAL NKX2-5 GATA4
19 heart septal defect 30.0 ZIC3 TBX5 PITX2 NODAL NKX2-5 GATA4
20 wolff-parkinson-white syndrome 29.9 NPPB NODAL NKX2-5
21 pulmonary valve stenosis 29.8 ZIC3 TBX5 NKX2-5 GATA4 CFC1
22 atrial heart septal defect 29.7 ZIC3 TBX5 PITX2 NPPB NODAL NKX2-5
23 patent foramen ovale 29.7 ZIC3 TBX5 NPPB NKX2-5 MED13L GATA4
24 dextrocardia 29.4 ZIC3 ODAD2 NODAL DNAI1 DNAH5 DNAH11
25 total anomalous pulmonary venous return 1 29.4 ZIC3 TBX5 NODAL NKX2-5 GDF1 GATA4
26 visceral heterotaxy 29.3 ZIC3 PKD1L1 PITX2 ODAD2 NODAL GDF1
27 tetralogy of fallot 29.2 ZIC3 TBX5 PITX2 NPPB NODAL NKX2-5
28 hypoplastic left heart syndrome 29.2 ZIC3 TBX5 NPPB NODAL NKX2-5 GATA4
29 atrioventricular septal defect 29.1 ZIC3 TBX5 PITX2 NODAL NKX2-5 GDF1
30 double outlet right ventricle 29.0 ZIC3 TBX5 PITX2 NODAL NKX2-5 GDF1
31 primary ciliary dyskinesia 28.8 ZIC3 PKD1L1 PITX2 ODAD2 NODAL GDF1
32 heart disease 27.9 ZIC3 TBX5 PITX2 NPPB NODAL NKX2-5
33 transposition of the great arteries, dextro-looped 1 11.9
34 dextro-looped transposition of the great arteries 3 11.9
35 congenitally uncorrected transposition of the great arteries with cardiac malformation 11.7
36 mental retardation 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 11.4
39 transient global amnesia 11.4
40 critical congenital heart disease 11.3
41 heterotaxy, visceral, 1, x-linked 11.3
42 heterotaxy, visceral, 5, autosomal 11.3
43 multicentric osteolysis, nodulosis, and arthropathy 11.3
44 heterotaxy, visceral, 6, autosomal 11.3
45 congenital heart defects, multiple types, 5 11.3
46 med13l haploinsufficiency syndrome 11.3
47 heart defects, congenital, and other congenital anomalies 11.3
48 univentricular heart 10.5
49 ischemia 10.5
50 mesocardia 10.5

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.55 NODAL
2 Decreased viability GR00249-S 9.55 NODAL PITX2 PKD1L1 ZIC3
3 Decreased viability GR00381-A-1 9.55 NODAL
4 Decreased viability GR00381-A-2 9.55 NODAL
5 Decreased viability GR00381-A-3 9.55 NODAL
6 Decreased viability GR00386-A-1 9.55 CFC1 DNAI1 FOXH1 PKD1L1 ZIC3
7 Decreased viability GR00402-S-2 9.55 CFC1 GDF1 NODAL PITX2

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

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 CRELD1 DNAH11 DNAH5 DNAI1 FOXH1 GATA4
2 cellular MP:0005384 10.3 CERS1 CRELD1 DNAH11 DNAH5 DNAI1 GATA4
3 growth/size/body region MP:0005378 10.3 CERS1 DNAH11 DNAH5 DNAI1 FOXH1 GATA4
4 digestive/alimentary MP:0005381 10.24 DNAH11 DNAH5 FOXH1 GATA4 GDF1 NKX2-5
5 mortality/aging MP:0010768 10.24 CERS1 CRELD1 DNAH11 DNAH5 DNAI1 FOXH1
6 embryo MP:0005380 10.22 CRELD1 DNAH11 FOXH1 GATA4 GDF1 NKX2-5
7 craniofacial MP:0005382 10.21 CRELD1 DNAH11 DNAH5 DNAI1 FOXH1 GDF1
8 hematopoietic system MP:0005397 10.21 CERS1 DNAH11 DNAH5 DNAI1 FOXH1 GATA4
9 nervous system MP:0003631 10.07 CERS1 CRELD1 DNAH5 DNAI1 FOXH1 GATA4
10 liver/biliary system MP:0005370 9.95 DNAH11 DNAH5 GATA4 GDF1 NODAL PITX2
11 muscle MP:0005369 9.92 DNAH11 FOXH1 GATA4 NKX2-5 NODAL ODAD2
12 normal MP:0002873 9.9 DNAH11 DNAI1 FOXH1 GATA4 GDF1 NKX2-5
13 respiratory system MP:0005388 9.73 DNAH11 DNAH5 DNAI1 FOXH1 GATA4 GDF1
14 skeleton MP:0005390 9.32 DNAH11 DNAH5 DNAI1 FOXH1 GATA4 GDF1

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 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2 Vasodilator Agents Phase 3
3 Protective Agents Phase 3
4 Neurotransmitter Agents Phase 3
5 Anti-Asthmatic Agents Phase 3
6 Respiratory System Agents Phase 3
7 Antioxidants Phase 3
8 Bronchodilator Agents Phase 3
9 Endothelium-Dependent Relaxing Factors Phase 3
10
Simendan Investigational Phase 2 131741-08-7
11 Cardiotonic Agents Phase 2
12 Phosphodiesterase 3 Inhibitors Phase 2
13 Phosphodiesterase Inhibitors Phase 2
14
Dexmedetomidine Approved, Vet_approved Phase 1 113775-47-6 5311068 68602
15 Adrenergic Agonists Phase 1
16 Adrenergic alpha-Agonists Phase 1
17 Analgesics, Non-Narcotic Phase 1
18 Hypnotics and Sedatives Phase 1
19 Analgesics Phase 1
20 Adrenergic Agents Phase 1
21
Dobutamine Approved 34368-04-2 36811
22
Mechlorethamine Approved, Investigational 51-75-2 4033
23 3-Iodobenzylguanidine
24 Adrenergic Antagonists
25 Adrenergic beta-Antagonists

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 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 Recruiting NCT03661385 Phase 3 Nitric Oxide
2 Perioperative Levosimendan Administration in Neonates With Transposition of the Great Arteries: Randomized Controlled Trial Completed NCT01120106 Phase 2 levosimendan;placebo
3 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
4 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
5 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 Unknown status NCT03469843
6 Oxygen Consumption-based Assessments of Hemodynamics in Neonates Following Congenital Heart Surgery (Oxy-CAHN Study) Completed NCT02184169
7 Late Function After Surgery for Transposition of the Great Arteries Completed NCT03078413
8 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
9 Effects of Beta-adrenergic Blocking Agents in Adult Patients With Transposition of the Great Arteries on Systemic Ventricular Function Completed NCT00313352
10 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
11 Influence of Physical Training on Cardiopulmonary Exercise Capacity and Right Ventricular Function in Patients With D-TGA and Atrial Switch Operation. Completed NCT00837603
12 Comprehensive Long-term Follow up of Adults With Arterial Switch Operation - European Collaboration for Prospective Outcome Research in Congenital Heart Disease Recruiting NCT04335448
13 A Retrospective Comparison of the Efficacy and Safety of Celsior® in Pediatric Cardiac Surgery for Transposition of the Great Vessels Recruiting NCT04616222 CELSIOR® group;Saint-Thomas group
14 Transposition of the Great Arteries: Prenatal Anatomical and Hemodynamic Findings Associated With Perinatal Outcomes Recruiting NCT03771534 Oxygen gas
15 Fibrosis, Valvular and Ventricular Function in Patients With Transposition of the Great Arteries Recruiting NCT02588989

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

Genetic Tests for Dextro-Looped Transposition of the Great Arteries

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

# Genetic test Affiliating Genes
1 Transposition of the Great Arteries 29

Anatomical Context for Dextro-Looped Transposition of the Great Arteries

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

40
Heart, Brain, Endothelial, Atrioventricular Node, Bone Marrow, Spinal Cord, Lung

Publications for Dextro-Looped Transposition of the Great Arteries

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

(show top 50) (show all 4703)
# Title Authors PMID Year
1
Further confirmation of the MED13L haploinsufficiency syndrome. 6 61
24781760 2015
2
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 6 61
23403903 2013
3
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 61 6
17924340 2007
4
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 6 61
14638541 2003
5
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 6
28991257 2017
6
De novo genic mutations among a Chinese autism spectrum disorder cohort. 6
27824329 2016
7
Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 6
20413652 2010
8
Right atrial isomerism in four siblings. 6
14648004 2004
9
Lymphocyte Immune Response and T Cell Differentiation in Fontan Patients with protein-losing enteropathy. 61
33607694 2021
10
Biventricular Conversion in Unseptatable Hearts: "Ventricular Switch". 61
32858218 2021
11
Coronary Artery Bypass Grafting in an Infant after an Arterial Switch Operation. 61
33234764 2021
12
Technical Performance Score's Association With Arterial Switch Operation Outcomes. 61
32603709 2021
13
Time course and predictors for neoaortic root dilatation and neoaortic valve regurgitation during adult life after arterial switch operation. 61
32402686 2021
14
Pregnancy in a woman with congenitally corrected transposition of the great arteries. 61
33795247 2021
15
Three-dimensional geometry of coronary arteries after arterial switch operation for transposition of the great arteries and late coronary events. 61
32713644 2021
16
Intraoperative Extubation Post Arterial Switch Operation for Transposition of the Great Arteries With Intact Ventricular Septum: A One-Year, Single Center Experience. 61
32621961 2021
17
Commentary: Another Way to Avoid the Fontan in Patients With Complex Transposition of the Great Arteries. 61
33181311 2021
18
The choice of palliative arterial switch operation as an alternative for selected cases in a single center: Experience and mid term results. 61
33694295 2021
19
Congenitally Malformed Hearts: Aspects of Teaching and Research Involving Medical Students. 61
33800587 2021
20
Left bundle branch area pacing in congenitally corrected transposition of great arteries - The obvious choice? 61
33794387 2021
21
Outcomes of treatment pathways in 240 patients with congenitally corrected transposition of great arteries. 61
33436290 2021
22
Transaortic cryoablation of uncommon atrioventricular nodal reentrant tachycardia after Senning and Rastelli operations. 61
33728644 2021
23
Delivery room oxygen physiology and respiratory interventions for newborns with cyanotic congenital heart disease. 61
33758390 2021
24
Performing an urgent neonatal cardiac intervention safely during the COVID-19 pandemic. 61
32837147 2021
25
Neurocognitive Dysfunction and Smaller Brain Volumes in Adolescents and Adults With a Fontan Circulation. 61
33231097 2021
26
Magnitude and significance of interarm blood pressure differences in children and adolescents. 61
33657583 2021
27
CT and MRI for Repaired Complex Adult Congenital Heart Diseases. 61
33289363 2021
28
Escape-Capture Bigeminy With and Without Aberrancy in an Adult With D-Transposition of the Great Arteries. 61
33736763 2021
29
Successful Management of a COVID-19 Positive Infant With Transposition of the Great Arteries. 61
33736537 2021
30
Twin atrioventricular nodes in congenitally corrected transposition of the great arteries: who is the ringleader of the atrioventricular nodal re-entrant tachycardia? 61
32830236 2021
31
Three-Dimensional Printing of Fetal Heart With d-Transposition of the Great Arteries From Ultrasound Imaging Data. 61
32851914 2021
32
Reference Values for Ventricular Volumes and Pulmonary Artery Dimensions in Pediatric Patients with Transposition of the Great Arteries After Arterial Switch Operation. 61
33749058 2021
33
Percutaneous pulmonary artery debanding. 61
33279375 2021
34
Comparison of half-turned truncal switch and conventional operations. 61
33667315 2021
35
Elective Non-Urgent Balloon-Atrial Septostomy in Infants with d-Transposition of the Great Arteries Does Not Eliminate the Need for PGE1 Therapy at the Time of Arterial Switch Operation. 61
33492430 2021
36
Multimodality Imaging of Transposition of the Great Arteries. 61
33481689 2021
37
Assessment of ventricular flow dynamics by 4D-flow MRI in patients following surgical repair of d-transposition of the great arteries. 61
33783570 2021
38
Fetal Umbilical Arterial Pulsatility Correlates With 2-Year Growth and Neurodevelopmental Outcomes in Congenital Heart Disease. 61
32653583 2021
39
Monthly variation in univentricular heart and transposition of the great arteries - 10-year national population-based cohort study. 61
33567397 2021
40
Management considerations in the adult with surgically modified d-transposition of the great arteries. 61
33741578 2021
41
Early Experience With Pulmonary Root Translocation in Transposition of the Great Arteries With Left Ventricular Outflow Tract Obstruction. 61
33684000 2021
42
Case report: Pulmonary artery thrombosis in cyanotic congenital heart disease. 61
33611948 2021
43
Percutaneous mitral valve repair in adults with congenital heart disease: Report of the first case-series. 61
32898313 2021
44
Oxygen Uptake Efficiency Slope is Strongly Correlated to VO2peak Long-Term After Arterial Switch Operation. 61
33527171 2021
45
Valve-sparing aortic root replacement after neonatal arterial switch operation. 61
33638201 2021
46
Prevalence, Risk Factors, and Impact of Preoperative Seizures in Neonates With Congenital Heart Disease. 61
33560701 2021
47
Alternative pulmonary artery reconstruction technique in the arterial switch operation. 61
33595054 2021
48
Continuous-Flow Left Ventricular Assist Device Therapy in Adults with Transposition of the Great Vessels. 61
30101823 2021
49
Clinical Course Long After Atrial Switch: A Novel Risk Score for Major Clinical Events. 61
33615824 2021
50
Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa. 61
33448881 2021

Variations for Dextro-Looped Transposition of the Great Arteries

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

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CERS1 , GDF1 NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) SNV Pathogenic 6747 rs121434422 GRCh37: 19:18979844-18979844
GRCh38: 19:18869035-18869035
2 MED13L NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly) SNV Pathogenic 2108 rs121918333 GRCh37: 12:116406902-116406902
GRCh38: 12:115969097-115969097
3 MED13L NM_015335.4(MED13L):c.2316_2317del (p.Met772fs) Deletion Pathogenic 567731 rs1566005476 GRCh37: 12:116444138-116444139
GRCh38: 12:116006333-116006334
4 MED13L NM_015335.4(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_015335.4(MED13L):c.4077G>A (p.Trp1359Ter) SNV Pathogenic 572855 rs1565995034 GRCh37: 12:116424951-116424951
GRCh38: 12:115987146-115987146
7 MED13L NM_015335.4(MED13L):c.5502del (p.His1834fs) Deletion Pathogenic 620030 rs1565987758 GRCh37: 12:116413406-116413406
GRCh38: 12:115975601-115975601
8 MED13L NC_000012.12:g.(?_115961246)_(116096772_?)del Deletion Pathogenic 833087 GRCh37: 12:116399051-116534577
GRCh38:
9 MED13L NM_015335.4(MED13L):c.263G>A (p.Trp88Ter) SNV Pathogenic 801022 GRCh37: 12:116675320-116675320
GRCh38: 12:116237515-116237515
10 MED13L NM_015335.5(MED13L):c.712G>T (p.Glu238Ter) SNV Pathogenic 947607 GRCh37: 12:116457691-116457691
GRCh38: 12:116019886-116019886
11 MED13L NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) Indel Pathogenic 967001 GRCh37: 12:116424119-116424120
GRCh38: 12:115986314-115986315
12 MED13L NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) Deletion Pathogenic 973240 GRCh37: 12:116452996-116453012
GRCh38: 12:116015191-116015207
13 MED13L NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) Duplication Pathogenic 984811 GRCh37: 12:116408475-116408476
GRCh38: 12:115970670-115970671
14 CERS1 , GDF1 NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) SNV Pathogenic 522571 rs374016704 GRCh37: 19:18979434-18979434
GRCh38: 19:18868625-18868625
15 MED13L NM_015335.4(MED13L):c.6488C>T (p.Ser2163Leu) SNV Likely pathogenic 620012 rs1565981137 GRCh37: 12:116401224-116401224
GRCh38: 12:115963419-115963419
16 MED13L NM_015335.4(MED13L):c.2579A>G (p.Asp860Gly) SNV Likely pathogenic 427897 rs1555246154 GRCh37: 12:116435026-116435026
GRCh38: 12:115997221-115997221
17 MED13L NM_015335.4(MED13L):c.1176-1G>A SNV Likely pathogenic 577695 rs1566010195 GRCh37: 12:116450707-116450707
GRCh38: 12:116012902-116012902
18 MED13L NM_015335.4(MED13L):c.3935-1G>A SNV Likely pathogenic 578927 rs1565995146 GRCh37: 12:116425094-116425094
GRCh38: 12:115987289-115987289
19 CERS1 , GDF1 NM_001492.6(GDF1):c.380G>A (p.Trp127Ter) SNV Likely pathogenic 977094 GRCh37: 19:18980145-18980145
GRCh38: 19:18869336-18869336
20 MED13L NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) SNV Uncertain significance 2106 rs28940309 GRCh37: 12:116457651-116457651
GRCh38: 12:116019846-116019846
21 MED13L NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) SNV Uncertain significance 2107 rs28940310 GRCh37: 12:116413092-116413092
GRCh38: 12:115975287-115975287
22 MED13L NM_015335.4(MED13L):c.451G>A (p.Glu151Lys) SNV Uncertain significance 573598 rs773315749 GRCh37: 12:116534502-116534502
GRCh38: 12:116096697-116096697
23 MED13L NM_015335.4(MED13L):c.401T>C (p.Leu134Pro) SNV Uncertain significance 574719 rs1565875400 GRCh37: 12:116534552-116534552
GRCh38: 12:116096747-116096747
24 MED13L NM_015335.4(MED13L):c.722A>G (p.Tyr241Cys) SNV Uncertain significance 464496 rs564830776 GRCh37: 12:116457681-116457681
GRCh38: 12:116019876-116019876
25 MED13L NM_015335.4(MED13L):c.2354A>T (p.Gln785Leu) SNV Uncertain significance 464488 rs1555247342 GRCh37: 12:116443789-116443789
GRCh38: 12:116005984-116005984
26 MED13L NM_015335.4(MED13L):c.3866C>T (p.Pro1289Leu) SNV Uncertain significance 464491 rs200187663 GRCh37: 12:116428893-116428893
GRCh38: 12:115991088-115991088
27 MED13L NM_015335.4(MED13L):c.5631G>T (p.Gln1877His) SNV Uncertain significance 464494 rs1555241858 GRCh37: 12:116413076-116413076
GRCh38: 12:115975271-115975271
28 MED13L NM_015335.4(MED13L):c.3479G>A (p.Cys1160Tyr) SNV Uncertain significance 567228 rs1565997289 GRCh37: 12:116429280-116429280
GRCh38: 12:115991475-115991475
29 MED13L NM_015335.4(MED13L):c.4880A>G (p.Gln1627Arg) SNV Uncertain significance 410100 rs752932375 GRCh37: 12:116420997-116420997
GRCh38: 12:115983192-115983192
30 MED13L NC_000012.11:g.(?_116534454)_(116534577_?)del Deletion Uncertain significance 464484 GRCh37: 12:116534454-116534577
GRCh38:
31 MED13L NM_015335.4(MED13L):c.2488C>T (p.Arg830Cys) SNV Uncertain significance 464489 rs375719087 GRCh37: 12:116440889-116440889
GRCh38: 12:116003084-116003084
32 MED13L NM_015335.4(MED13L):c.6545A>G (p.Asn2182Ser) SNV Uncertain significance 464495 rs762926166 GRCh37: 12:116399159-116399159
GRCh38: 12:115961354-115961354
33 MED13L NM_015335.4(MED13L):c.1928A>G (p.Asp643Gly) SNV Uncertain significance 464487 rs1344076513 GRCh37: 12:116446290-116446290
GRCh38: 12:116008485-116008485
34 MED13L NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) SNV Uncertain significance 464490 rs201987892 GRCh37: 12:116429242-116429242
GRCh38: 12:115991437-115991437
35 CERS1 , GDF1 NM_001492.6(GDF1):c.137G>C (p.Arg46Pro) SNV Uncertain significance 930879 GRCh37: 19:18980980-18980980
GRCh38: 19:18870171-18870171
36 MED13L NM_015335.4(MED13L):c.3517G>A (p.Gly1173Ser) SNV Uncertain significance 464490 rs201987892 GRCh37: 12:116429242-116429242
GRCh38: 12:115991437-115991437
37 MED13L NM_015335.4(MED13L):c.5162C>T (p.Ser1721Phe) SNV Uncertain significance 640132 rs755513948 GRCh37: 12:116420202-116420202
GRCh38: 12:115982397-115982397
38 MED13L NM_015335.4(MED13L):c.6570dup (p.Cys2191fs) Duplication Uncertain significance 642696 rs1592888491 GRCh37: 12:116399133-116399134
GRCh38: 12:115961328-115961329
39 MED13L NM_015335.4(MED13L):c.1260A>C (p.Arg420Ser) SNV Uncertain significance 642813 rs768900677 GRCh37: 12:116450622-116450622
GRCh38: 12:116012817-116012817
40 MED13L NM_015335.4(MED13L):c.6311C>T (p.Ala2104Val) SNV Uncertain significance 643671 rs1177608611 GRCh37: 12:116403963-116403963
GRCh38: 12:115966158-115966158
41 MED13L NM_015335.4(MED13L):c.3934+3A>G SNV Uncertain significance 650618 rs747852225 GRCh37: 12:116428822-116428822
GRCh38: 12:115991017-115991017
42 MED13L NM_015335.4(MED13L):c.3788G>A (p.Arg1263Gln) SNV Uncertain significance 659195 rs374506267 GRCh37: 12:116428971-116428971
GRCh38: 12:115991166-115991166
43 MED13L NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met) SNV Uncertain significance 855215 GRCh37: 12:116420376-116420376
GRCh38: 12:115982571-115982571
44 MED13L NM_015335.5(MED13L):c.603G>T (p.Gln201His) SNV Uncertain significance 835348 GRCh37: 12:116460283-116460283
GRCh38: 12:116022478-116022478
45 MED13L NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu) SNV Uncertain significance 841884 GRCh37: 12:116434445-116434445
GRCh38: 12:115996640-115996640
46 MED13L NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp) SNV Uncertain significance 1003426 GRCh37: 12:116443793-116443793
GRCh38: 12:116005988-116005988
47 MED13L NM_015335.5(MED13L):c.1185A>C (p.Gln395His) SNV Uncertain significance 1003545 GRCh37: 12:116450697-116450697
GRCh38: 12:116012892-116012892
48 MED13L NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu) SNV Uncertain significance 1007935 GRCh37: 12:116446795-116446795
GRCh38: 12:116008990-116008990
49 MED13L NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) SNV Uncertain significance 1010663 GRCh37: 12:116434465-116434465
GRCh38: 12:115996660-115996660
50 MED13L NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys) SNV Uncertain significance 852862 GRCh37: 12:116408527-116408527
GRCh38: 12:115970722-115970722

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

GO Terms for Dextro-Looped Transposition of the Great Arteries

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 PKD1L1 ODAD2 DNAI1 DNAH5 DNAH11 DAW1
2 axoneme GO:0005930 9.5 ODAD2 DNAH5 DNAH11
3 cilium GO:0005929 9.43 PKD1L1 ODAD2 DNAI1 DNAH5 DNAH11 DAW1
4 dynein complex GO:0030286 9.33 DNAI1 DNAH5 DNAH11
5 outer dynein arm GO:0036157 9.26 DNAI1 DNAH5
6 9+2 motile cilium GO:0097729 8.8 DNAI1 DNAH5 DNAH11

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.17 ZIC3 TBX5 PITX2 NKX2-5 MED13L GATA4
2 multicellular organism development GO:0007275 10.11 ZIC3 TBX5 PITX2 NODAL NKX2-5 CFC1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 ZIC3 TBX5 PITX2 NODAL NKX2-5 GATA4
4 anterior/posterior pattern specification GO:0009952 9.81 ZIC3 NODAL FOXH1 CFC1
5 lung development GO:0030324 9.78 ZIC3 TBX5 NODAL
6 microtubule-based movement GO:0007018 9.77 DNAI1 DNAH5 DNAH11
7 flagellated sperm motility GO:0030317 9.75 DNAI1 DNAH5 DNAH11
8 cilium movement GO:0003341 9.71 ODAD2 DNAI1 DNAH5 DNAH11
9 cardiac muscle cell differentiation GO:0055007 9.65 TBX5 NKX2-5 GATA4
10 atrial septum morphogenesis GO:0060413 9.63 TBX5 NKX2-5 GATA4
11 embryonic heart tube development GO:0035050 9.62 NODAL NKX2-5
12 negative regulation of androgen receptor signaling pathway GO:0060766 9.62 NODAL FOXH1
13 outer dynein arm assembly GO:0036158 9.62 ODAD2 DNAI1 DNAH5 DAW1
14 cardiac right ventricle morphogenesis GO:0003215 9.61 GATA4 FOXH1
15 endocardial cushion development GO:0003197 9.61 TBX5 GATA4 CRELD1
16 heart development GO:0007507 9.61 TBX5 ODAD2 NODAL NKX2-5 DNAI1 DNAH5
17 left/right axis specification GO:0070986 9.6 PKD1L1 PITX2
18 nodal signaling pathway GO:0038092 9.58 NODAL CFC1
19 establishment of localization in cell GO:0051649 9.56 DNAH5 DAW1
20 epithelial cilium movement GO:0003351 9.56 DNAI1 DNAH5 DNAH11 DAW1
21 regulation of cilium beat frequency GO:0003356 9.55 ODAD2 DNAH11
22 heart looping GO:0001947 9.55 ZIC3 NODAL NKX2-5 GATA4 FOXH1
23 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.54 NODAL FOXH1
24 positive regulation of cardioblast differentiation GO:0051891 9.54 TBX5 NKX2-5 GATA4
25 embryonic heart tube anterior/posterior pattern specification GO:0035054 9.52 GATA4 FOXH1
26 determination of left/right asymmetry in nervous system GO:0035545 9.49 ZIC3 DNAH11
27 determination of left/right symmetry GO:0007368 9.32 ZIC3 PITX2 ODAD2 NODAL FOXH1 DNAI1

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 transcription factor binding GO:0008134 9.76 TBX5 PITX2 NKX2-5 GATA4
2 motor activity GO:0003774 9.58 DNAI1 DNAH5 DNAH11
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 PITX2 NKX2-5 GATA4 FOXH1
4 sequence-specific DNA binding GO:0043565 9.55 ZIC3 TBX5 NKX2-5 GATA4 FOXH1
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.43 DNAH5 DNAH11
6 co-SMAD binding GO:0070410 9.37 GATA4 FOXH1
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.35 ZIC3 TBX5 NKX2-5 GATA4 FOXH1
8 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.32 NKX2-5 GATA4
9 DNA-binding transcription factor activity GO:0003700 9.1 ZIC3 TBX5 PITX2 NKX2-5 GATA4 FOXH1

Sources for Dextro-Looped Transposition of the Great Arteries

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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