Details of Disease | DrugMAP

General Information of Disease (ID: DISRZ8EA)

Disease Name	Persistent truncus arteriosus
Synonyms	truncus arteriosus; common aorticopulmonary trunk; persistent truncus arteriosus (disease); persistent truncus arteriosus; TAC; common truncus arteriosus; common arterial trunk; Truncus Arteriosus
Definition	A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.
Disease Hierarchy	DIS7FMIG: Conotruncal heart malformations DISQBA23: Congenital heart disease DISRZ8EA: Persistent truncus arteriosus
Disease Identifiers	MONDO ID MONDO_0018072 MESH ID D014339 UMLS CUI C0041207 MedGen ID 52867 Orphanet ID 3384 SNOMED CT ID 61959006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CTSE	TTLXC4Q	Strong	Altered Expression	[1]
F11	TTDM4ZU	Strong	Biomarker	[2]
MBOAT4	TTSYOWR	Strong	Genetic Variation	[3]
NRG4	TTWAGKJ	Strong	Biomarker	[4]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GATA6	OTO2BC0F	Limited	Genetic Variation	[5]
PLXND1	OTNK9ALK	Supportive	Autosomal recessive	[6]
A1BG	OTFVUGNQ	Strong	Biomarker	[7]
ISL1	OTVNVKAX	Strong	Genetic Variation	[8]
NKX2-6	OTPPKGTE	Strong	SusceptibilityMutation	[9]
NOC2L	OTNT7R33	Strong	Biomarker	[10]
PTCRA	OTQTO5QZ	Strong	Biomarker	[2]
RBX1	OTYA1UIO	Strong	Altered Expression	[11]
SEMA3C	OTEGUY7F	Strong	Biomarker	[12]
TBX1	OTQLBPRA	Strong	Biomarker	[13]
TBX2	OTTOT7A9	Strong	Genetic Variation	[14]
TMEFF2	OT1WZ2QO	Strong	Biomarker	[15]
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⏷ Show the Full List of 12 DOT(s)

References

1	Gene expression profiling of progressive papillary noninvasive carcinomas of the urinary bladder.Clin Cancer Res. 2005 Jun 15;11(12):4415-29. doi: 10.1158/1078-0432.CCR-05-0259.
2	Anatomical evaluation of the vertebral artery (V2) and its influence in cervical spine surgery.Clin Neurol Neurosurg. 2018 Nov;174:80-85. doi: 10.1016/j.clineuro.2018.09.002. Epub 2018 Sep 8.
3	APOE genotype and verbal memory recovery during and after emergence from post-traumatic amnesia.Brain Inj. 2010;24(6):886-92. doi: 10.3109/02699051003724952.
4	Gene expression profiling of ERBB receptors and ligands in human transitional cell carcinoma of the bladder.J Urol. 2006 Mar;175(3 Pt 1):1127-32. doi: 10.1016/S0022-5347(05)00317-4.
5	A novel mutation in GATA6 causes pancreatic agenesis.Pediatr Diabetes. 2015 Feb;16(1):67-70. doi: 10.1111/pedi.12111. Epub 2014 Jan 17.
6	Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene. Am J Med Genet A. 2013 Dec;161A(12):3115-20. doi: 10.1002/ajmg.a.36194. Epub 2013 Oct 29.
7	Clinical and audiometric outcomes of palisade cartilage myringoplasty under local anesthetic in an office setting.Am J Otolaryngol. 2019 Jul-Aug;40(4):482-486. doi: 10.1016/j.amjoto.2019.03.015. Epub 2019 Mar 29.
8	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.Clin Genet. 2011 Aug;80(2):184-90. doi: 10.1111/j.1399-0004.2010.01523.x. Epub 2010 Aug 2.
9	Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.Eur J Med Genet. 2014 Oct;57(10):579-86. doi: 10.1016/j.ejmg.2014.08.005. Epub 2014 Sep 3.
10	Nanoscale Covalent Organic Framework for Combinatorial Antitumor Photodynamic and Photothermal Therapy.ACS Nano. 2019 Nov 26;13(11):13304-13316. doi: 10.1021/acsnano.9b06467. Epub 2019 Nov 8.
11	The relation between Ring Box-1 protein overexpression and tumor grade and stage in bladder urothelial cell carcinoma.Cancer Biomark. 2017 Dec 6;20(4):389-394. doi: 10.3233/CBM-170002.
12	ENU induced mutations causing congenital cardiovascular anomalies.Development. 2004 Dec;131(24):6211-23. doi: 10.1242/dev.01543. Epub 2004 Nov 17.
13	Inositol 1,4,5-trisphosphate receptor 2 as a novel marker of vasculature to delineate processes of cardiopulmonary development.Dev Biol. 2020 Feb 15;458(2):237-245. doi: 10.1016/j.ydbio.2019.11.011. Epub 2019 Nov 20.
14	Genome-wide analysis of CpG island methylation in bladder cancer identified TBX2, TBX3, GATA2, and ZIC4 as pTa-specific prognostic markers.Eur Urol. 2012 Jun;61(6):1245-56. doi: 10.1016/j.eururo.2012.01.011. Epub 2012 Jan 18.
15	Methylation of the TPEF- and PAX6-promoters is increased in early bladder cancer and in normal mucosa adjacent to pTa tumours.BJU Int. 2008 Mar;101(6):753-7. doi: 10.1111/j.1464-410X.2007.07322.x. Epub 2007 Dec 7.