Details of Disease | DrugMAP

General Information of Disease (ID: DISPXJ8X)

Disease Name	Transposition of the great arteries
Synonyms	transposition of the great vessels; transposition of great vessels; great vessels transposition; complete transposition; TGV; TGA
Definition	A congenital cardiac defect in which two heart vessels are reversed (transposed).
Disease Hierarchy	DIS7LR56: Congenital heart malformation DISPXJ8X: Transposition of the great arteries
Disease Identifiers	MONDO ID MONDO_0000153 MESH ID D014188 UMLS CUI C0040761 MedGen ID 21245 HPO ID HP:0001669 Orphanet ID 216675 SNOMED CT ID 26146002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACVR2B	TTLFRKS	Strong	Biomarker	[1]
CGA	TTFC29G	Strong	Genetic Variation	[2]
HSPG2	TT5UM29	Strong	Biomarker	[3]
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This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDF1	OTZ1VRBH	moderate	Genetic Variation	[4]
HAP1	OT6SG0JQ	moderate	Genetic Variation	[5]
INSIG1	OTZF5X1D	moderate	Genetic Variation	[5]
MED13L	OTSP1W0F	moderate	Genetic Variation	[6]
CFC1	OT5DHGI8	Strong	Biomarker	[7]
CFC1B	OTB9ERQV	Strong	Biomarker	[8]
DVL2	OTMNYNCM	Strong	Biomarker	[9]
FOXH1	OTEXJ9SL	Strong	Biomarker	[1]
MED13	OTP5LEJE	Strong	Biomarker	[10]
MED30	OTM3INJN	Strong	Biomarker	[6]
MKKS	OTLF5T11	Strong	Genetic Variation	[11]
MOCOS	OT0TL3Q5	Strong	Genetic Variation	[11]
PHEX	OTG7N3J7	Strong	Genetic Variation	[12]
PKD1L1	OTLAARJ1	Strong	CausalMutation	[13]
TBX1	OTQLBPRA	Strong	Biomarker	[14]
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⏷ Show the Full List of 15 DOT(s)

References

1	Mechanism responsible for D-transposition of the great arteries: Is this part of the spectrum of right isomerism?.Congenit Anom (Kyoto). 2016 Sep;56(5):196-202. doi: 10.1111/cga.12176.
2	The surgical strategy and the molecular analysis of patients with parathyroid cancer.World J Surg. 2010 Nov;34(11):2604-10. doi: 10.1007/s00268-010-0618-x.
3	Role of collagen type II and perlecan in skeletal development.Ann N Y Acad Sci. 2003 May;995:140-50. doi: 10.1111/j.1749-6632.2003.tb03217.x.
4	Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007 Nov;81(5):987-94. doi: 10.1086/522890. Epub 2007 Sep 28.
5	The INSIG1 gene, not the INSIG2 gene, associated with coronary heart disease: tagSNPs and haplotype-based association study. The Beijing Atherosclerosis Study.Thromb Haemost. 2008 Nov;100(5):886-92.
6	Increasing evidence of pathogenic role of the Mediator (MED) complex in the development of cardiovascular diseases.Biochimie. 2019 Oct;165:1-8. doi: 10.1016/j.biochi.2019.06.014. Epub 2019 Jun 27.
7	CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.Am J Hum Genet. 2002 Mar;70(3):776-80. doi: 10.1086/339079. Epub 2002 Jan 17.
8	A role of the cryptic gene in the correct establishment of the left-right axis.Curr Biol. 1999 Nov 18;9(22):1339-42. doi: 10.1016/s0960-9822(00)80059-7.
9	Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure.Development. 2002 Dec;129(24):5827-38. doi: 10.1242/dev.00164.
10	Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation. 2003 Dec 9;108(23):2843-50. doi: 10.1161/01.CIR.0000103684.77636.CD. Epub 2003 Nov 24.
11	Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. Biochem Biophys Res Commun. 2001 Apr 20;282(5):1194-200. doi: 10.1006/bbrc.2001.4719.
12	Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency.Eur J Endocrinol. 2003 Oct;149(4):317-21. doi: 10.1530/eje.0.1490317.
13	Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8.
14	Adult Congenital Heart Disease with Pregnancy.Korean Circ J. 2018 Apr;48(4):251-276. doi: 10.4070/kcj.2018.0070.