MCID: TRN038
MIFTS: 29

Transposition of the Great Arteries, Dextro-Looped 1

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

Aliases & Classifications for Transposition of the Great Arteries, Dextro-Looped 1

MalaCards integrated aliases for Transposition of the Great Arteries, Dextro-Looped 1:

Name: Transposition of the Great Arteries, Dextro-Looped 1 57 29 13 6 73
Dtga1 57 12 75
D-Tga 57 75
Dextro-Looped Transposition of the Great Arteries 1 12
Transposition of the Great Arteries Dextro-Looped 1 75
Transposition of Great Vessels 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

32
transposition of the great arteries, dextro-looped 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 608808
Disease Ontology 12 DOID:0060771
ICD10 33 Q20.3
MedGen 42 C1837341
MeSH 44 D014188
SNOMED-CT via HPO 69 263681008 204296002 26146002
UMLS 73 C1837341

Summaries for Transposition of the Great Arteries, Dextro-Looped 1

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)

MalaCards based summary : Transposition of the Great Arteries, Dextro-Looped 1, also known as dtga1, is related to dextro-looped transposition of the great arteries and transposition of the great arteries. An important gene associated with Transposition of the Great Arteries, Dextro-Looped 1 is MED13L (Mediator Complex Subunit 13 Like). The drug Natriuretic Peptide, Brain has been mentioned in the context of this disorder. Affiliated tissues include heart and brain, and related phenotype is transposition of the great arteries.

Disease Ontology : 12 A dextro-looped transposition of the great arteries that has material basis in heterozygous missense mutation in the MED13L gene on chromosome 12q24.

UniProtKB/Swiss-Prot : 75 Transposition of the great arteries dextro-looped 1: 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.

Related Diseases for Transposition of the Great Arteries, Dextro-Looped 1

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 Transposition of the Great Arteries, Dextro-Looped 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 dextro-looped transposition of the great arteries 11.6
2 transposition of the great arteries 11.6
3 heterotaxy, visceral, 1, x-linked 11.1
4 double discordia 10.3
5 situs inversus 10.3
6 dextrocardia 10.2
7 levocardia 10.0
8 cleft palate, isolated 9.9
9 pulmonic stenosis 9.9
10 tricuspid atresia 9.9
11 ventricular septal defect 9.9
12 tricuspid valve stenosis 9.9
13 aortic coarctation 9.9
14 dextrocardia with situs inversus 9.9
15 double outlet left ventricle 9.9
16 subpulmonary stenosis 9.9

Graphical network of the top 20 diseases related to Transposition of the Great Arteries, Dextro-Looped 1:



Diseases related to Transposition of the Great Arteries, Dextro-Looped 1

Symptoms & Phenotypes for Transposition of the Great Arteries, Dextro-Looped 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
dextro-looped transposition of the great arteries


Clinical features from OMIM:

608808

Human phenotypes related to Transposition of the Great Arteries, Dextro-Looped 1:

32
# Description HPO Frequency HPO Source Accession
1 transposition of the great arteries 32 HP:0001669

Drugs & Therapeutics for Transposition of the Great Arteries, Dextro-Looped 1

Drugs for Transposition of the Great Arteries, Dextro-Looped 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Peptide, Brain Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Right Ventricular Hypertrophy After Atrial Switch and Cardiovascular Magnetic Resonance (CMR) Findings Completed NCT01430897
2 Physical Training in Transposition of the Great Arteries Completed NCT00837603 Not Applicable
3 Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP) Completed NCT00308230 Not Applicable
4 Myocardial Contrast Echocardiography in Congenital Heart Disease Completed NCT00412685
5 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941

Search NIH Clinical Center for Transposition of the Great Arteries, Dextro-Looped 1

Cochrane evidence based reviews: transposition of great vessels

Genetic Tests for Transposition of the Great Arteries, Dextro-Looped 1

Genetic tests related to Transposition of the Great Arteries, Dextro-Looped 1:

# Genetic test Affiliating Genes
1 Transposition of the Great Arteries, Dextro-Looped 1 29 MED13L

Anatomical Context for Transposition of the Great Arteries, Dextro-Looped 1

MalaCards organs/tissues related to Transposition of the Great Arteries, Dextro-Looped 1:

41
Heart, Brain

Publications for Transposition of the Great Arteries, Dextro-Looped 1

Articles related to Transposition of the Great Arteries, Dextro-Looped 1:

(show all 15)
# Title Authors Year
1
Situs Inversus with Levocardia and Congenitally Corrected Transposition of Great Vessels in a 35 year old Male: A Case report. ( 28243408 )
2017
2
Dextrocardia With Situs Inversus and Levo-Transposition of Great Vessels. ( 28641729 )
2017
3
Congenitally corrected transposition of great vessels with infundibular pulmonary stenosis with ventricular septal defect, presenting with atypical atrioventricular nodal reentrant tachycardia: a rare association. ( 28989287 )
2017
4
Ablation of peri-"mitral" flutter in a patient with congenitally corrected transposition of great vessels and situs inversus. ( 21535028 )
2012
5
Situs inversus with levocardia and congenitally corrected transposition of great vessels with rheumatic tricuspid valve stenosis and regurgitation. ( 22574246 )
2011
6
Double outlet left ventricle, transposition of great vessels and pulmonary stenosis. ( 15213085 )
2004
7
[Anatomical repair in transposition of great vessels]. ( 10188319 )
1998
8
Situs inversus with dextrocardia and corrected transposition of great vessels with rheumatic systemic atrio-ventricular valve regurgitation: a 63 year old adult survivor. ( 7590840 )
1995
9
Situs inversus with dextrocardia with corrected transposition of great vessels with rheumatic systemic atrio-ventricular valve regurgitation: a 63 year old adult survivor. ( 7797227 )
1994
10
[Palliative surgery of transposition of great vessels associated with pulmonary stenosis]. ( 56924 )
1975
11
Dextrocardia with transposition of great vessels and multiple associated abnormalities of viscera. ( 5202726 )
1970
12
Changing clinical features in tricuspid atresia without transposition of great vessels. Report of two cases. ( 5314675 )
1969
13
ENDOCARDIAL CUSHION DEFECT WITH TRANSPOSITION OF GREAT VESSELS, PULMONIC STENOSIS, AND MULTIPLE ANOMALIES. A CASE REPORT. ( 14170443 )
1964
14
Accessory valvular tissue causing subpulmonary stenosis in corrected transposition of great vessels. ( 13930288 )
1963
15
Transposition of great vessels, isolated dextrocardia, coarctation of the aorta, patent ductus passing to the descending aorta, and cleft palate in a ten weeks infant. ( 13529835 )
1958

Variations for Transposition of the Great Arteries, Dextro-Looped 1

UniProtKB/Swiss-Prot genetic disease variations for Transposition of the Great Arteries, Dextro-Looped 1:

75
# Symbol AA change Variation ID SNP ID
1 MED13L p.Glu251Gly VAR_024024 rs28940309
2 MED13L p.Arg1872His VAR_024025 rs28940310
3 MED13L p.Asp2023Gly VAR_024026 rs121918333

ClinVar genetic disease variations for Transposition of the Great Arteries, Dextro-Looped 1:

6
(show top 50) (show all 87)
# Gene Variation Type Significance SNP ID Assembly Location
1 MED13L NM_015335.4(MED13L): c.5615G> A (p.Arg1872His) single nucleotide variant Pathogenic rs28940310 GRCh37 Chromosome 12, 116413092: 116413092
2 MED13L NM_015335.4(MED13L): c.5615G> A (p.Arg1872His) single nucleotide variant Pathogenic rs28940310 GRCh38 Chromosome 12, 115975287: 115975287
3 MED13L NM_015335.4(MED13L): c.6068A> G (p.Asp2023Gly) single nucleotide variant Pathogenic rs121918333 GRCh37 Chromosome 12, 116406902: 116406902
4 MED13L NM_015335.4(MED13L): c.6068A> G (p.Asp2023Gly) single nucleotide variant Pathogenic rs121918333 GRCh38 Chromosome 12, 115969097: 115969097
5 MED13L NM_015335.4(MED13L): c.6068-8C> T single nucleotide variant Benign rs61936939 GRCh37 Chromosome 12, 116406910: 116406910
6 MED13L NM_015335.4(MED13L): c.6068-8C> T single nucleotide variant Benign rs61936939 GRCh38 Chromosome 12, 115969105: 115969105
7 MED13L NM_015335.4(MED13L): c.4758G> A (p.Pro1586=) single nucleotide variant Benign rs141818426 GRCh38 Chromosome 12, 115983314: 115983314
8 MED13L NM_015335.4(MED13L): c.4758G> A (p.Pro1586=) single nucleotide variant Benign rs141818426 GRCh37 Chromosome 12, 116421119: 116421119
9 MED13L NM_015335.4(MED13L): c.4744T> A (p.Ser1582Thr) single nucleotide variant Benign/Likely benign rs150222863 GRCh37 Chromosome 12, 116421133: 116421133
10 MED13L NM_015335.4(MED13L): c.4744T> A (p.Ser1582Thr) single nucleotide variant Benign/Likely benign rs150222863 GRCh38 Chromosome 12, 115983328: 115983328
11 MED13L NM_015335.4(MED13L): c.3512A> G (p.Lys1171Arg) single nucleotide variant Benign/Likely benign rs147863200 GRCh37 Chromosome 12, 116429247: 116429247
12 MED13L NM_015335.4(MED13L): c.3512A> G (p.Lys1171Arg) single nucleotide variant Benign/Likely benign rs147863200 GRCh38 Chromosome 12, 115991442: 115991442
13 MED13L NM_015335.4(MED13L): c.1215T> G (p.Pro405=) single nucleotide variant Benign rs147976467 GRCh38 Chromosome 12, 116012862: 116012862
14 MED13L NM_015335.4(MED13L): c.1215T> G (p.Pro405=) single nucleotide variant Benign rs147976467 GRCh37 Chromosome 12, 116450667: 116450667
15 MED13L NM_015335.4(MED13L): c.948G> A (p.Lys316=) single nucleotide variant Benign rs61748072 GRCh37 Chromosome 12, 116457090: 116457090
16 MED13L NM_015335.4(MED13L): c.948G> A (p.Lys316=) single nucleotide variant Benign rs61748072 GRCh38 Chromosome 12, 116019285: 116019285
17 MED13L NM_015335.4(MED13L): c.5285delT (p.Leu1762Argfs) deletion Pathogenic rs886043314 GRCh37 Chromosome 12, 116418634: 116418634
18 MED13L NM_015335.4(MED13L): c.5285delT (p.Leu1762Argfs) deletion Pathogenic rs886043314 GRCh38 Chromosome 12, 115980829: 115980829
19 MED13L NM_015335.4(MED13L): c.1283A> G (p.His428Arg) single nucleotide variant Benign/Likely benign rs144410580 GRCh37 Chromosome 12, 116446935: 116446935
20 MED13L NM_015335.4(MED13L): c.1283A> G (p.His428Arg) single nucleotide variant Benign/Likely benign rs144410580 GRCh38 Chromosome 12, 116009130: 116009130
21 MED13L NM_015335.4(MED13L): c.4956-10C> G single nucleotide variant Likely benign rs1060504701 GRCh37 Chromosome 12, 116420418: 116420418
22 MED13L NM_015335.4(MED13L): c.4956-10C> G single nucleotide variant Likely benign rs1060504701 GRCh38 Chromosome 12, 115982613: 115982613
23 MED13L NM_015335.4(MED13L): c.4880A> G (p.Gln1627Arg) single nucleotide variant Uncertain significance rs752932375 GRCh37 Chromosome 12, 116420997: 116420997
24 MED13L NM_015335.4(MED13L): c.4880A> G (p.Gln1627Arg) single nucleotide variant Uncertain significance rs752932375 GRCh38 Chromosome 12, 115983192: 115983192
25 MED13L NM_015335.4(MED13L): c.626-10C> A single nucleotide variant Likely benign rs776407123 GRCh37 Chromosome 12, 116457787: 116457787
26 MED13L NM_015335.4(MED13L): c.626-10C> A single nucleotide variant Likely benign rs776407123 GRCh38 Chromosome 12, 116019982: 116019982
27 MED13L NM_015335.4(MED13L): c.579T> C (p.Asn193=) single nucleotide variant Benign rs11067880 GRCh38 Chromosome 12, 116022502: 116022502
28 MED13L NM_015335.4(MED13L): c.579T> C (p.Asn193=) single nucleotide variant Benign rs11067880 GRCh37 Chromosome 12, 116460307: 116460307
29 MED13L NM_015335.4(MED13L): c.546G> A (p.Glu182=) single nucleotide variant Likely benign rs781132536 GRCh38 Chromosome 12, 116022535: 116022535
30 MED13L NM_015335.4(MED13L): c.546G> A (p.Glu182=) single nucleotide variant Likely benign rs781132536 GRCh37 Chromosome 12, 116460340: 116460340
31 MED13L NM_015335.4(MED13L): c.5955C> T (p.Leu1985=) single nucleotide variant Benign rs113830913 GRCh37 Chromosome 12, 116408511: 116408511
32 MED13L NM_015335.4(MED13L): c.5955C> T (p.Leu1985=) single nucleotide variant Benign rs113830913 GRCh38 Chromosome 12, 115970706: 115970706
33 MED13L NM_015335.4(MED13L): c.3063C> T (p.Pro1021=) single nucleotide variant Likely benign rs142191700 GRCh37 Chromosome 12, 116429696: 116429696
34 MED13L NM_015335.4(MED13L): c.3063C> T (p.Pro1021=) single nucleotide variant Likely benign rs142191700 GRCh38 Chromosome 12, 115991891: 115991891
35 MED13L NM_015335.4(MED13L): c.57C> A (p.Ser19=) single nucleotide variant Likely benign rs1060504702 GRCh37 Chromosome 12, 116714880: 116714880
36 MED13L NM_015335.4(MED13L): c.57C> A (p.Ser19=) single nucleotide variant Likely benign rs1060504702 GRCh38 Chromosome 12, 116277075: 116277075
37 MED13L NM_015335.4(MED13L): c.3450C> T (p.Pro1150=) single nucleotide variant Benign rs78561507 GRCh38 Chromosome 12, 115991504: 115991504
38 MED13L NM_015335.4(MED13L): c.3450C> T (p.Pro1150=) single nucleotide variant Benign rs78561507 GRCh37 Chromosome 12, 116429309: 116429309
39 MED13L NM_015335.4(MED13L): c.3273C> T (p.Pro1091=) single nucleotide variant Likely benign rs145072799 GRCh38 Chromosome 12, 115991681: 115991681
40 MED13L NM_015335.4(MED13L): c.3273C> T (p.Pro1091=) single nucleotide variant Likely benign rs145072799 GRCh37 Chromosome 12, 116429486: 116429486
41 MED13L NM_015335.4(MED13L): c.1863T> C (p.Ile621=) single nucleotide variant Benign rs61748071 GRCh38 Chromosome 12, 116008550: 116008550
42 MED13L NM_015335.4(MED13L): c.1863T> C (p.Ile621=) single nucleotide variant Benign rs61748071 GRCh37 Chromosome 12, 116446355: 116446355
43 MED13L NM_015335.4(MED13L): c.2056A> C (p.Lys686Gln) single nucleotide variant Benign rs139048741 GRCh37 Chromosome 12, 116445398: 116445398
44 MED13L NM_015335.4(MED13L): c.2056A> C (p.Lys686Gln) single nucleotide variant Benign rs139048741 GRCh38 Chromosome 12, 116007593: 116007593
45 MED13L NM_015335.4(MED13L): c.1904G> A (p.Ser635Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144457722 GRCh37 Chromosome 12, 116446314: 116446314
46 MED13L NM_015335.4(MED13L): c.1904G> A (p.Ser635Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144457722 GRCh38 Chromosome 12, 116008509: 116008509
47 MED13L NM_015335.4(MED13L): c.656C> T (p.Thr219Met) single nucleotide variant Conflicting interpretations of pathogenicity rs191743300 GRCh37 Chromosome 12, 116457747: 116457747
48 MED13L NM_015335.4(MED13L): c.656C> T (p.Thr219Met) single nucleotide variant Conflicting interpretations of pathogenicity rs191743300 GRCh38 Chromosome 12, 116019942: 116019942
49 MED13L NM_015335.4(MED13L): c.5996_5998delTCCinsGTA (p.Phe1999_Pro2000delinsCysThr) indel not provided GRCh37 Chromosome 12, 116408468: 116408470
50 MED13L NM_015335.4(MED13L): c.5996_5998delTCCinsGTA (p.Phe1999_Pro2000delinsCysThr) indel not provided GRCh38 Chromosome 12, 115970663: 115970665

Expression for Transposition of the Great Arteries, Dextro-Looped 1

Search GEO for disease gene expression data for Transposition of the Great Arteries, Dextro-Looped 1.

Pathways for Transposition of the Great Arteries, Dextro-Looped 1

GO Terms for Transposition of the Great Arteries, Dextro-Looped 1

Sources for Transposition of the Great Arteries, Dextro-Looped 1

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
Content
Loading form....