General Information of Disease (ID: DISKXISV)

Disease Name Aortic disorder
Synonyms disorder of the aorta; aortic disorder; disease of aorta; aorta disease; aorta disease or disorder; disease or disorder of aorta; disorder of aorta
Definition Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)
Disease Hierarchy
DISLG4XS: Arterial disorder
DISWD40R: Disease
DISKXISV: Aortic disorder
Disease Identifiers
MONDO ID
MONDO_0005561
MESH ID
D001018
UMLS CUI
C0003493
MedGen ID
1618
SNOMED CT ID
47040006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 11 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CFD TT8D13I moderate Biomarker [1]
MMP2 TTLM12X moderate Biomarker [2]
PALMD TTIFD98 moderate Biomarker [3]
AGER TTMO9HF Strong Therapeutic [4]
CAT TTPS279 Strong Biomarker [5]
MAT2A TTSMPXQ Strong Genetic Variation [6]
MYLK TT18ETS Strong Genetic Variation [7]
PRKG1 TT7IZSA Strong Altered Expression [8]
S100A12 TTQ4ESF Strong Altered Expression [2]
SOD1 TTP9K3Q Strong Biomarker [5]
VCAM1 TTHCEF6 Strong Biomarker [9]
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⏷ Show the Full List of 11 DTT(s)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTDSS1 OTXLIBD7 moderate Biomarker [10]
ACTA2 OTEDLG8E Strong Genetic Variation [8]
FOXE3 OTAUDKC1 Strong Genetic Variation [11]
LAMC1 OTIG527N Strong Biomarker [5]
MYH11 OTVNVWY3 Strong Genetic Variation [12]
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References

1 Hemodynamics in diabetic human aorta using computational fluid dynamics.PLoS One. 2018 Aug 23;13(8):e0202671. doi: 10.1371/journal.pone.0202671. eCollection 2018.
2 Blocking the ERK1/2 signal pathway can inhibit S100A12 induced human aortic smooth muscle cells damage.Cell Biol Int. 2017 Dec;41(12):1307-1315. doi: 10.1002/cbin.10840. Epub 2017 Sep 5.
3 PALMD as a novel target for calcific aortic valve stenosis.Curr Opin Cardiol. 2019 Mar;34(2):105-111. doi: 10.1097/HCO.0000000000000605.
4 Attenuation of aortic injury by ursolic acid through RAGE-Nox-NFB pathway in streptozocin-induced diabetic rats.Arch Pharm Res. 2012 May;35(5):877-86. doi: 10.1007/s12272-012-0513-0. Epub 2012 May 29.
5 Analysis of oxidative stress enzymes and structural and functional proteins on human aortic tissue from different aortopathies.Oxid Med Cell Longev. 2014;2014:760694. doi: 10.1155/2014/760694. Epub 2014 Jul 1.
6 MAT2A mutations predispose individuals to thoracic aortic aneurysms.Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31.
7 MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20.
8 Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.Arterioscler Thromb Vasc Biol. 2017 Jan;37(1):26-34. doi: 10.1161/ATVBAHA.116.303229. Epub 2016 Nov 22.
9 Development of progressive aortic vasculopathy in a rat model of aging.Am J Physiol Heart Circ Physiol. 2007 Nov;293(5):H2634-43. doi: 10.1152/ajpheart.00397.2007. Epub 2007 Sep 14.
10 Three-dimensional thoracic aorta principal strain analysis from routine ECG-gated computerized tomography: feasibility in patients undergoing transcatheter aortic valve replacement.BMC Cardiovasc Disord. 2018 May 2;18(1):76. doi: 10.1186/s12872-018-0818-0.
11 FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8.
12 Genetic approaches to identify pathological limitations in aortic smooth muscle contraction.PLoS One. 2018 Mar 1;13(3):e0193769. doi: 10.1371/journal.pone.0193769. eCollection 2018.