Details of Disease

General Information of Disease (ID: DISLG4XS)

• Disease Name: Arterial disorder
• Synonyms: disorder of artery; disease or disorder of artery; disease of artery; artery disease or disorder; artery disease; arteriopathy; arterial disorder; arterial disease
• Definition: An impairment of the structure or function of the blood vessels which carry blood away from the heart.
• Disease Hierarchy:
  DISWD40R: Disease
  DISVS67S: Vascular disease
  DISLG4XS: Arterial disorder
• Disease Identifiers:
  MONDO ID: MONDO_0000473
  UMLS CUI: C0852949
  MedGen ID: 208875
  SNOMED CT ID: 359557001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOL1	TTDB8PW	Strong	Biomarker	[1]
F2	TT6L509	Strong	Genetic Variation	[2]
PROC	TTZUXYS	Strong	Biomarker	[3]
SLC2A9	TTIF3GB	Strong	Genetic Variation	[4]
VKORC1	TTEUC8H	Strong	Genetic Variation	[5]
NOTCH3	TTVX7IA	Definitive	Genetic Variation	[6]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL5A1	OT24078H	Limited	Autosomal dominant	[7]
DYM	OTQ670WI	Disputed	Genetic Variation	[8]
ACSM3	OT0AE1IV	Strong	Genetic Variation	[9]
ACTA2	OTEDLG8E	Strong	Biomarker	[10]
ADAMTS7	OTVKZ1DV	Strong	Genetic Variation	[11]
ATP6V0A2	OTJBDX0Y	Strong	Altered Expression	[12]
CARTPT	OTTE4V9S	Strong	Biomarker	[13]
CD84	OTAY5B0F	Strong	Altered Expression	[14]
DHX40	OTOL02QN	Strong	Biomarker	[15]
EFEMP2	OT0I2B4J	Strong	Genetic Variation	[16]
GCA	OTAJ7ZHG	Strong	Biomarker	[17]
HES5	OTW7JEHV	Strong	Biomarker	[18]
ITSN1	OT8YF3S5	Strong	Biomarker	[19]
PRKRA	OTUTVZZU	Strong	Genetic Variation	[20]
RBBP6	OTTVG4HU	Strong	Genetic Variation	[20]
RNF213	OT4OVE9O	Strong	Genetic Variation	[21]
SAMHD1	OTBCIBC7	Strong	Genetic Variation	[22]
ELN	OTFSO7PG	Definitive	Biomarker	[23]

References

• [1] APOL1 localization in normal kidney and nondiabetic kidney disease.J Am Soc Nephrol. 2011 Nov;22(11):2119-28. doi: 10.1681/ASN.2011010069. Epub 2011 Oct 13.
• [2] Prothrombin G20210A and factor V Leiden polymorphisms in stroke.J Mol Neurosci. 2012 Jan;46(1):210-6. doi: 10.1007/s12031-011-9580-9. Epub 2011 Jun 24.
• [3] Poor response to activated protein C as a prominent risk predictor of advanced atherosclerosis and arterial disease.Circulation. 1999 Feb 9;99(5):614-9. doi: 10.1161/01.cir.99.5.614.
• [4] Association between SLC2A9 transporter gene variants and uric acid phenotypes in African American and white families.Rheumatology (Oxford). 2011 May;50(5):871-8. doi: 10.1093/rheumatology/keq425. Epub 2010 Dec 24.
• [5] Vitamin K epoxide reductase complex subunit 1 gene polymorphism is associated with atherothrombotic complication after drug-eluting stent implantation: 2-Center prospective cohort study.Am Heart J. 2009 May;157(5):908-12. doi: 10.1016/j.ahj.2009.02.001. Epub 2009 Mar 21.
• [6] Prevalence and clinical characteristics of stroke patients with p.R544C NOTCH3 mutation in Taiwan.Ann Clin Transl Neurol. 2018 Nov 20;6(1):121-128. doi: 10.1002/acn3.690. eCollection 2019 Jan.
• [7] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [8] Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006 Mar;38(3):343-9. doi: 10.1038/ng1721. Epub 2006 Jan 29.
• [9] Specific mechanisms of subarachnoid hemorrhage accompanied by ischemic stroke in essential thrombocythemia: two case reports and a literature review.J Neurol. 2019 Aug;266(8):1869-1878. doi: 10.1007/s00415-019-09347-4. Epub 2019 May 2.
• [10] Recent developments and new frontiers in childhood arterial ischemic stroke.Int J Stroke. 2019 Jan;14(1):32-43. doi: 10.1177/1747493018790064. Epub 2018 Aug 6.
• [11] Association between ADAMTS7 polymorphism and carotid artery plaque vulnerability.Medicine (Baltimore). 2019 Oct;98(43):e17438. doi: 10.1097/MD.0000000000017438.
• [12] Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A. 2008 Apr 15;146A(8):977-83. doi: 10.1002/ajmg.a.32242.
• [13] Predictors and Outcomes of StagedVersus One-Time MultivesselRevascularization in MultivesselCoronaryArtery Disease: Insights From the VA CART Program.JACC Cardiovasc Interv. 2018 Nov 26;11(22):2265-2273. doi: 10.1016/j.jcin.2018.07.055.
• [14] CD84 is markedly up-regulated in Kawasaki disease arteriopathy.Clin Exp Immunol. 2014 Jul;177(1):203-11. doi: 10.1111/cei.12327.
• [15] Drug-coated balloons versus drug-eluting stents in the femoropopliteal artery: comparing apples to oranges?.J Cardiovasc Surg (Torino). 2019 Aug;60(4):456-459. doi: 10.23736/S0021-9509.19.10953-6. Epub 2019 Apr 15.
• [16] Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.Eur Radiol. 2014 Aug;24(8):1742-8. doi: 10.1007/s00330-014-3205-y. Epub 2014 May 17.
• [17] Pathogenic mechanisms in giant cell arteritis.Cleve Clin J Med. 2002;69 Suppl 2:SII28-32. doi: 10.3949/ccjm.69.suppl_2.sii28.
• [18] Green tea polyphenols protect against preglomerular arteriopathy via the jagged1/notch1 pathway.Am J Transl Res. 2018 Oct 15;10(10):3276-3290. eCollection 2018.
• [19] Modulation of Intersectin-1s Lung Expression Induces Obliterative Remodeling and Severe Plexiform Arteriopathy in the Murine Pulmonary Vascular Bed.Am J Pathol. 2017 Mar;187(3):528-542. doi: 10.1016/j.ajpath.2016.11.012. Epub 2017 Jan 6.
• [20] Drug-Coated Balloon Treatment forFemoropopliteal Artery Disease: The Chronic Total Occlusion Cohort in the IN.PACT Global Study.JACC Cardiovasc Interv. 2019 Mar 11;12(5):484-493. doi: 10.1016/j.jcin.2018.12.004.
• [21] The Clinical and Vascular Characteristics of RNF213 c.14576G>A Variant-Related Intracranial Major Artery Disease in China.Behav Neurol. 2019 Mar 12;2019:7908392. doi: 10.1155/2019/7908392. eCollection 2019.
• [22] Intracerebral large artery disease in Aicardi-Goutires syndrome implicates SAMHD1 in vascular homeostasis.Dev Med Child Neurol. 2010 Aug;52(8):725-32. doi: 10.1111/j.1469-8749.2010.03727.x.
• [23] Long-term Surgical Prognosis of Primary Supravalvular Aortic Stenosis Repair.Ann Thorac Surg. 2019 Oct;108(4):1202-1209. doi: 10.1016/j.athoracsur.2019.04.094. Epub 2019 Jun 20.