General Information of Disease (ID: DISQ5KRA)

Disease Name Aortic aneurysm
Synonyms
ruptured thoracic aortic aneurysm; thoracic aortic aneurysm which HAS ruptured; aortic aneurysm; ruptured abdominal aortic aneurysm; abdominal aortic aneurysm, ruptured; thoracic aortic aneurysm, ruptured; thoracoabdominal aortic aneurysm, ruptured; ruptured thoracic aneurysm; aortic aneurysm (disease); ruptured thoracoabdominal aortic aneurysm; aortic aneurysm of unspecified site, ruptured; ruptured aortic aneurysm
Disease Class BD50: Aneurysm/dissection
Definition A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.
Disease Hierarchy
DISKXISV: Aortic disorder
DISQ5KRA: Aortic aneurysm
ICD Code
ICD-11
ICD-11: BD50
Expand ICD-11
'BD50
Expand ICD-10
'I71; 'I71.0; 'I71.8; 'I71.9
Disease Identifiers
MONDO ID
MONDO_0005160
MESH ID
D001014
UMLS CUI
C0003486
MedGen ID
362
HPO ID
HP:0004942
SNOMED CT ID
67362008

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
CRD-007 DMBRJYC Phase 2 NA [1]
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This Disease is Treated as An Indication in 2 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
VDA-1124 DMN62VE Investigative NA [2]
WAY-644 DMNCZEQ Investigative NA [3]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 21 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTSK TTDZN01 Limited Biomarker [4]
SMAD3 TTHQZV7 Limited Biomarker [5]
TGFBR2 TTZE3P7 Limited Genetic Variation [6]
HBEGF TT15SL0 Disputed Biomarker [7]
MMP9 TT6X50U moderate Genetic Variation [8]
ADAMTS5 TTXSU2Y Strong Biomarker [9]
AOC3 TT7HC21 Strong Biomarker [10]
APOE TTKS9CB Strong Biomarker [11]
CASP4 TT6KIOT Strong Altered Expression [12]
CTSA TT5NILS Strong Biomarker [13]
F10 TTCIHJA Strong Biomarker [14]
FCGRT TTKLPHO Strong Genetic Variation [15]
GAA TTLPC70 Strong Biomarker [16]
LOX TTQHNAM Strong Biomarker [17]
LYVE1 TTG8DNU Strong Genetic Variation [18]
MMP17 TTVSZKN Strong Altered Expression [19]
PDGFD TTSN0GA Strong Biomarker [20]
RTN4 TT7GXMU Strong Altered Expression [21]
SERPINE1 TTTO43N Strong Altered Expression [22]
SMAD6 TTON5JB Strong Genetic Variation [23]
AGT TT5C0UB Definitive Biomarker [24]
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⏷ Show the Full List of 21 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A37 DTLBGTZ Strong Biomarker [11]
SLC2A10 DT3BI6S Strong Altered Expression [25]
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This Disease Is Related to 33 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FBLN5 OTLVNZ8U Limited Biomarker [26]
OSR1 OTB19LEQ Disputed Biomarker [27]
TBX20 OTMPU2XQ moderate Biomarker [28]
ACTA2 OTEDLG8E Strong Genetic Variation [29]
ADAMTS7 OTVKZ1DV Strong Biomarker [30]
ARHGAP18 OTYMJP6H Strong Altered Expression [31]
ARIH1 OTO3XDR2 Strong Biomarker [32]
BICD1 OT78IYPF Strong Biomarker [33]
BTBD8 OT3A3RD7 Strong Biomarker [34]
COL3A1 OTT1EMLM Strong Biomarker [35]
COQ8B OTBY50BD Strong Genetic Variation [36]
COX2 OTTMVBJJ Strong Altered Expression [37]
EFEMP2 OT0I2B4J Strong Genetic Variation [38]
ELN OTFSO7PG Strong Altered Expression [11]
FBN1 OTYCJT63 Strong Genetic Variation [39]
FOXO4 OT90X9LN Strong Altered Expression [40]
KLF15 OTGMQMVR Strong Genetic Variation [41]
KRTDAP OTPGRZLY Strong Biomarker [33]
LOXL1 OTA0NEJU Strong Altered Expression [42]
MBD4 OTWR9YXE Strong Biomarker [43]
MED18 OT6M6CQ8 Strong Biomarker [44]
MYH10 OTXN2WXS Strong Biomarker [26]
MYH11 OTVNVWY3 Strong Biomarker [45]
PPP1R42 OTN1HRBN Strong Biomarker [18]
RBBP8 OTRHJ3GI Strong Genetic Variation [46]
RBM8A OT5SR6G0 Strong Genetic Variation [18]
RGS1 OTGXJYMG Strong Biomarker [47]
RNASE13 OT5GGAGZ Strong Genetic Variation [48]
SKI OT4KJ8F6 Strong Biomarker [49]
SPATC1L OTED6WB8 Strong Genetic Variation [48]
TRIP13 OTFM3TI9 Strong Biomarker [50]
TSHZ1 OTYQ9ECW Strong Genetic Variation [51]
TSPYL2 OTGGW2EF Strong Biomarker [52]
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⏷ Show the Full List of 33 DOT(s)

References

1 ClinicalTrials.gov (NCT01540604) CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic Carriers. U.S. National Institutes of Health.
2 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 2369).
3 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 1636).
4 Cathepsin K deficiency reduces elastase perfusion-induced abdominal aortic aneurysms in mice.Arterioscler Thromb Vasc Biol. 2012 Jan;32(1):15-23. doi: 10.1161/ATVBAHA.111.235002. Epub 2011 Aug 4.
5 Inhibition of the methyltranferase EZH2 improves aortic performance in experimental thoracic aortic aneurysm.JCI Insight. 2018 Mar 8;3(5):e97493. doi: 10.1172/jci.insight.97493.
6 Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.Am J Med Genet A. 2010 Apr;152A(4):1016-9. doi: 10.1002/ajmg.a.33356.
7 Heparin-binding EGF-like growth factor (HB-EGF) antisense oligonucleotide protected against hyperlipidemia-associated atherosclerosis.Nutr Metab Cardiovasc Dis. 2019 Mar;29(3):306-315. doi: 10.1016/j.numecd.2018.12.006. Epub 2019 Jan 9.
8 The interaction effects between TLR4 and MMP9 gene polymorphisms contribute to aortic aneurysm risk in a Chinese Han population.BMC Cardiovasc Disord. 2019 Mar 29;19(1):72. doi: 10.1186/s12872-019-1049-8.
9 Role of ADAMTS-5 in Aortic Dilatation and Extracellular Matrix Remodeling.Arterioscler Thromb Vasc Biol. 2018 Jul;38(7):1537-1548. doi: 10.1161/ATVBAHA.117.310562. Epub 2018 Apr 5.
10 Chemical-induced, nonlethal, developmental model of dissecting aortic aneurysm.Birth Defects Res A Clin Mol Teratol. 2006 Jan;76(1):29-38. doi: 10.1002/bdra.20222.
11 Mesenchymal stem cell-derived conditioned medium attenuate angiotensin II-induced aortic aneurysm growth by modulating macrophage polarization.J Cell Mol Med. 2019 Dec;23(12):8233-8245. doi: 10.1111/jcmm.14694. Epub 2019 Oct 4.
12 Altered patterns of gene expression specific to thoracic aortic aneurysms: microarray analysis of surgically resected specimens.Int Heart J. 2005 Mar;46(2):265-77. doi: 10.1536/ihj.46.265.
13 The Relationship between the Concentration of Cathepsin A, D, and E and the Concentration of Copper and Zinc, and the Size of the Aneurysmal Enlargement in the Wall of the Abdominal Aortic Aneurysm.Ann Vasc Surg. 2019 Feb;55:182-188. doi: 10.1016/j.avsg.2018.07.043. Epub 2018 Sep 29.
14 Aortic Arch Atherosclerosis in Patients With Embolic Stroke of Undetermined Source: An Exploratory Analysis of the NAVIGATE ESUS Trial.Stroke. 2019 Nov;50(11):3184-3190. doi: 10.1161/STROKEAHA.119.025813. Epub 2019 Sep 17.
15 Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA-->stop TAA).Blood. 1992 Oct 15;80(8):1972-9.
16 Identification of a new point mutation in hypoxanthine phosphoribosyl transferase responsible for hyperuricemia in a female patient.Metabolism. 2004 Nov;53(11):1500-2. doi: 10.1016/j.metabol.2004.04.016.
17 Copper Transporter ATP7A (Copper-Transporting P-Type ATPase/Menkes ATPase) Limits Vascular Inflammation and Aortic Aneurysm Development: Role of MicroRNA-125b.Arterioscler Thromb Vasc Biol. 2019 Nov;39(11):2320-2337. doi: 10.1161/ATVBAHA.119.313374. Epub 2019 Sep 26.
18 Clinical outcomes of different surgical approaches for proximal descending thoracic aneurysm involving the distal arch.J Thorac Cardiovasc Surg. 2018 Jun;155(6):2289-2298.e1. doi: 10.1016/j.jtcvs.2017.12.152. Epub 2018 Feb 20.
19 Deficiency of MMP17/MT4-MMP proteolytic activity predisposes to aortic aneurysm in mice.Circ Res. 2015 Jul 3;117(2):e13-26. doi: 10.1161/CIRCRESAHA.117.305108. Epub 2015 May 11.
20 Perivascular Adipose Tissue-Derived PDGF-D Contributes to Aortic Aneurysm Formation During Obesity.Diabetes. 2018 Aug;67(8):1549-1560. doi: 10.2337/db18-0098. Epub 2018 May 24.
21 Regulation of Nogo-B expression in the lesion of aortic aneurysms.Clin Exp Pharmacol Physiol. 2007 Sep;34(9):856-60. doi: 10.1111/j.1440-1681.2007.04673.x.
22 Hyperglycemia modulates plasminogen activator inhibitor-1 expression and aortic diameter in experimental aortic aneurysm disease.Surgery. 2010 Aug;148(2):429-35. doi: 10.1016/j.surg.2010.05.014. Epub 2010 Jun 19.
23 Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.Eur J Hum Genet. 2019 Jul;27(7):1044-1053. doi: 10.1038/s41431-019-0363-z. Epub 2019 Feb 22.
24 Mas receptor deficiency augments angiotensin II-induced atherosclerosis and aortic aneurysm ruptures in hypercholesterolemic male mice.J Vasc Surg. 2019 Nov;70(5):1658-1668.e1. doi: 10.1016/j.jvs.2018.11.045. Epub 2019 Mar 6.
25 Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19.
26 Network-based analysis reveals novel gene signatures in the peripheral blood of patients with sporadic nonsyndromic thoracic aortic aneurysm.J Cell Physiol. 2020 Mar;235(3):2478-2491. doi: 10.1002/jcp.29152. Epub 2019 Sep 6.
27 Trial watch: Peptide-based vaccines in anticancer therapy.Oncoimmunology. 2018 Sep 6;7(12):e1511506. doi: 10.1080/2162402X.2018.1511506. eCollection 2018.
28 Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.Eur J Hum Genet. 2019 Jul;27(7):1033-1043. doi: 10.1038/s41431-019-0364-y. Epub 2019 Feb 28.
29 Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report.BMC Med Genet. 2018 Dec 7;19(1):208. doi: 10.1186/s12881-018-0728-0.
30 Upregulation of ADAMTS? and downregulation of COMP are associated with aortic aneurysm.Mol Med Rep. 2017 Oct;16(4):5459-5463. doi: 10.3892/mmr.2017.7293. Epub 2017 Aug 21.
31 ARHGAP18 Protects Against Thoracic Aortic Aneurysm Formation by Mitigating the Synthetic and Proinflammatory Smooth Muscle Cell Phenotype.Circ Res. 2017 Aug 18;121(5):512-524. doi: 10.1161/CIRCRESAHA.117.310692. Epub 2017 Jul 12.
32 Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.Dev Cell. 2018 Apr 23;45(2):226-244.e8. doi: 10.1016/j.devcel.2018.03.020.
33 Exploring the Molecular Mechanism of Thoracic Aortic Aneurysm via Bioinformatics Analysis.Med Sci Monit. 2018 Mar 14;24:1533-1539. doi: 10.12659/msm.905970.
34 Management of patients with acute aortic syndrome through a regional rapid transport system.J Vasc Surg. 2017 Jan;65(1):21-29. doi: 10.1016/j.jvs.2016.08.081. Epub 2016 Oct 1.
35 A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections.Heart Vessels. 2008 Mar;23(2):144-8. doi: 10.1007/s00380-007-1027-4. Epub 2008 Apr 4.
36 Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.J Cardiovasc Transl Res. 2017 Aug;10(4):423-432. doi: 10.1007/s12265-017-9753-1. Epub 2017 May 26.
37 Hepatic injury induced by thioacetamide causes aortic endothelial dysfunction by a cyclooxygenase-dependent mechanism.Life Sci. 2018 Nov 1;212:168-175. doi: 10.1016/j.lfs.2018.09.051. Epub 2018 Oct 4.
38 Role of Thrombospondin-1 in Mechanotransduction and Development of Thoracic Aortic Aneurysm in Mouse and Humans.Circ Res. 2018 Aug 31;123(6):660-672. doi: 10.1161/CIRCRESAHA.118.313105.
39 Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.Mol Genet Genomic Med. 2020 Jan;8(1):e1041. doi: 10.1002/mgg3.1041. Epub 2019 Dec 12.
40 Unspliced XBP1 Confers VSMC Homeostasis and Prevents Aortic Aneurysm Formation via FoxO4 Interaction.Circ Res. 2017 Dec 8;121(12):1331-1345. doi: 10.1161/CIRCRESAHA.117.311450. Epub 2017 Oct 31.
41 Klf15 deficiency is a molecular link between heart failure and aortic aneurysm formation.Sci Transl Med. 2010 Apr 7;2(26):26ra26. doi: 10.1126/scitranslmed.3000502.
42 LncRNA LOXL1-AS is up-regulated in thoracic aortic aneurysm and regulated proliferation and apoptosis of aortic smooth muscle cells.Biosci Rep. 2019 Sep 13;39(9):BSR20191649. doi: 10.1042/BSR20191649. Print 2019 Sep 30.
43 Epigenetic regulation of regulatory T cells in patients with abdominal aortic aneurysm.FEBS Open Bio. 2019 Jun;9(6):1137-1143. doi: 10.1002/2211-5463.12643. Epub 2019 May 14.
44 Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.Genet Med. 2016 Sep;18(9):914-23. doi: 10.1038/gim.2015.193. Epub 2016 Jan 28.
45 Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.Hum Mutat. 2017 Apr;38(4):439-450. doi: 10.1002/humu.23174. Epub 2017 Jan 27.
46 Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.J Am Heart Assoc. 2016 Jul 14;5(7):e002603. doi: 10.1161/JAHA.115.002603.
47 RGS1 regulates myeloid cell accumulation in atherosclerosis and aortic aneurysm rupture through altered chemokine signalling.Nat Commun. 2015 Mar 18;6:6614. doi: 10.1038/ncomms7614.
48 Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.Int J Mol Med. 2017 May;39(5):1091-1100. doi: 10.3892/ijmm.2017.2927. Epub 2017 Mar 21.
49 Mutations in the TGF- repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30.
50 Characterization of Pch2 localization determinants reveals a nucleolar-independent role in the meiotic recombination checkpoint.Chromosoma. 2019 Sep;128(3):297-316. doi: 10.1007/s00412-019-00696-7. Epub 2019 Mar 12.
51 Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi.J Med Genet. 1999 Aug;36(8):610-4.
52 Diabetes Reduces Severity of Aortic Aneurysms Depending on the Presence of Cell Division Autoantigen 1 (CDA1).Diabetes. 2018 Apr;67(4):755-768. doi: 10.2337/db17-0134. Epub 2018 Jan 8.