Details of Disease

General Information of Disease (ID: DISAFXDJ)

• Disease Name: Aorta coarctation
• Synonyms: coarctation of aorta; coarctation of the aorta; aortic coarctation
• Definition: Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DISYKSRF: Genetic disease
  DISKXISV: Aortic disorder
  DISAFXDJ: Aorta coarctation
• Disease Identifiers:
  MONDO ID: MONDO_0007345
  MESH ID: D001017
  UMLS CUI: C0003492
  OMIM ID: 120000
  MedGen ID: 1617
  HPO ID: HP:0001680
  Orphanet ID: 1457
  SNOMED CT ID: 7305005

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Alprostadil	DMWH7NQ	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MATR3	OTESJ5S7	Limited	Biomarker	[2]
ARSD	OTAHW9M8	Disputed	Genetic Variation	[3]
DSG4	OTWIQDC4	Strong	Biomarker	[4]
GATA5	OTO81B63	Strong	Genetic Variation	[5]
JAG1	OT3LGT6K	Strong	Altered Expression	[6]
MCTP2	OTFMZ8I2	Strong	Biomarker	[7]
NPTXR	OTQJEOIH	Strong	Genetic Variation	[8]
TBL1Y	OTA0F7TM	Strong	Biomarker	[9]

References

• [1] Alprostadil FDA Label
• [2] MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.Hum Mol Genet. 2015 Apr 15;24(8):2375-89. doi: 10.1093/hmg/ddv004. Epub 2015 Jan 7.
• [3] Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study.Pediatr Neonatol. 2020 Apr;61(2):188-194. doi: 10.1016/j.pedneo.2019.10.001. Epub 2019 Oct 11.
• [4] Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.Am J Med Genet A. 2014 May;164A(5):1218-21. doi: 10.1002/ajmg.a.36404. Epub 2014 Jan 23.
• [5] Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve.Pediatr Res. 2014 Aug;76(2):211-6. doi: 10.1038/pr.2014.67. Epub 2014 May 5.
• [6] Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.Am J Med Genet. 2002 Sep 15;112(1):75-8. doi: 10.1002/ajmg.10652.
• [7] MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16.
• [8] Human genotyping and an experimental model reveal NPR-C as a possible contributor to morbidity in coarctation of the aorta.Physiol Genomics. 2019 Jun 1;51(6):177-185. doi: 10.1152/physiolgenomics.00049.2018. Epub 2019 Apr 19.
• [9] Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.Curr Mol Med. 2012 Feb;12(2):199-205. doi: 10.2174/156652412798889027.