PedAM

Pediatric Disease Annotations & Medicines


	transposition of the great arteries

Disease ID	997
Disease	transposition of the great arteries
Definition	A congenital cardiovascular malformation in which the AORTA arises entirely from the RIGHT VENTRICLE, and the PULMONARY ARTERY arises from the LEFT VENTRICLE. Consequently, the pulmonary and the systemic circulations are parallel and not sequential, so that the venous return from the peripheral circulation is re-circulated by the right ventricle via aorta to the systemic circulation without being oxygenated in the lungs. This is a potentially lethal form of heart disease in newborns and infants.
Synonym	aorta-pulmonary art transposition arteries great transposition arteris great transposition artery great transposition classical transposition of great vessels compl transpos great ves complete tga complete transposition of great arteries complete transposition of great vessels complete transposition of great vessels (disorder) dextro looped transposition of the great arteries dextro-looped transposition of the great arteries great arteries transposition great arteries transpositions great transposition vessel great transposition vessels great vessel transposition nos great vessel transposition nos (disorder) great vessels transposition great vessels transpositions total great vessel transposition total great vessel transposition (disorder) transposition aorta-pulmonary artery transposition great arteries transposition great vessels transposition of great arteries transposition of great artery transposition of great vessel transposition of great vessels transposition of great vessels [disease/finding] transposition of great vessels, classical transposition of great vessels, nos transposition of the great vessels transposition, great vessels, complete
Orphanet	ORPHANET:216675
UMLS	C0040761
MeSH	D014188
SNOMED-CT	SNOMEDCT_US_2016_09_01:26146002;SNOMEDCT_US_2016_09_01:204297006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0018818 \| ventricular septal defect \| 22 C0020542 \| pulmonary hypertension \| 4 C0018801 \| heart failure \| 4 C0003507 \| aortic stenosis \| 2 C0018799 \| heart disease \| 2 C1956257 \| pulmonary stenosis \| 2 C0020538 \| hypertension \| 2 C0036439 \| scoliosis \| 1 C0242231 \| coronary stenosis \| 1 C0041341 \| tuberous sclerosis \| 1 C0004245 \| atrioventricular block \| 1 C0003507 \| valvular aortic stenosis \| 1 C0003507 \| aortic valve stenosis \| 1 C0040961 \| tricuspid valve regurgitation \| 1 C0031190 \| persistent pulmonary hypertension of the newborn \| 1 C0014118 \| endocarditis \| 1 C0040961 \| tricuspid incompetence \| 1 C0175703 \| tar syndrome \| 1 C0003504 \| aortic regurgitation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) CFC1 \| 55997 \| CTD_human GDF1 \| 2657 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:27) 3670 \| ISL1 \| DISEASES 2657 \| GDF1 \| DISEASES 55997 \| CFC1 \| DISEASES 3299 \| HSF4 \| DISEASES 2052 \| EPHX1 \| DISEASES 23389 \| MED13L \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 3960 \| LGALS4 \| DISEASES 5308 \| PITX2 \| DISEASES 27165 \| GLS2 \| DISEASES 2744 \| GLS \| DISEASES 137814 \| NKX2-6 \| DISEASES 4018 \| LPA \| DISEASES 1482 \| NKX2-5 \| DISEASES 473 \| RERE \| DISEASES 93 \| ACVR2B \| DISEASES 7044 \| LEFTY2 \| DISEASES 3075 \| CFH \| DISEASES 2048 \| EPHB2 \| DISEASES 6015 \| RING1 \| DISEASES 3055 \| HCK \| DISEASES 1041 \| CDSN \| DISEASES 4879 \| NPPB \| DISEASES 8928 \| FOXH1 \| DISEASES 83552 \| MFRP \| DISEASES 387715 \| ARMS2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	997
Disease	transposition of the great arteries
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:44) HP:0011540 \| Congenitally corrected transposition of the great arteries \| 25 HP:0001629 \| Ventricular septal defects \| 22 HP:0001635 \| Congestive heart failure \| 4 HP:0001649 \| Tachycardia \| 4 HP:0002092 \| Pulmonary artery hypertension \| 4 HP:0001750 \| Single ventricle \| 3 HP:0011604 \| Aortopulmonary window \| 3 HP:0001650 \| Valvular aortic stenosis \| 3 HP:0001696 \| Situs inversus totalis \| 3 HP:0001642 \| Pulmonic stenosis \| 2 HP:0000822 \| Hypertension \| 2 HP:0001645 \| Sudden cardiac death \| 2 HP:0001660 \| Common arterial trunk \| 2 HP:0001651 \| Thoracic situs inversus \| 2 HP:0001719 \| Double-outlet right ventricle \| 2 HP:0001627 \| Congenital heart defects \| 2 HP:0011721 \| Type 3 total anomalous pulmonary venous connection \| 1 HP:0005160 \| Total anomalous pulmonary venous return \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0002650 \| Scoliosis \| 1 HP:0100584 \| Endocarditis \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0001518 \| Small for gestational age \| 1 HP:0001678 \| Atrioventricular block \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0004969 \| peripheral pulmonary stenosis \| 1 HP:0011560 \| Mitral valve atresia \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0011720 \| Type 2 total anomalous pulmonary venous connection \| 1 HP:0010883 \| Aortic atresia \| 1 HP:0011662 \| Tricuspid atresia \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1 HP:0011590 \| Double aortic arch \| 1 HP:0004415 \| Pulmonary artery stenosis \| 1 HP:0005182 \| Bicuspid pulmonary valve \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0011626 \| Scimitar anomaly \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0001710 \| Conotruncal heart defects \| 1 HP:0030853 \| Heterotaxy \| 1 HP:0011555 \| Double inlet left ventricle \| 1 HP:0003546 \| Exercise intolerance \| 1 HP:0004756 \| Ventricular tachycardia \| 1

Disease ID	997
Disease	transposition of the great arteries
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:6)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0040761	ampicillin	D000667	69-53-4	transposition of great vessels	MESH:D014188	marker/mechanism	3960086
C0040761	carbamazepine	D002220	298-46-4	transposition of great vessels	MESH:D014188	marker/mechanism	11805365
C0040761	diethylstilbestrol	D004054	56-53-1	transposition of great vessels	MESH:D014188	marker/mechanism	830309
C0040761	theophylline	D013806	58-55-9	transposition of great vessels	MESH:D014188	marker/mechanism	2251542
C0040761	tretinoin	D014212	302-79-4	transposition of great vessels	MESH:D014188	marker/mechanism	7729035
C0040761	valproic acid	D014635	99-66-1	transposition of great vessels	MESH:D014188	marker/mechanism	8211818

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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