MCID: THR003
MIFTS: 57

Thoracic Aortic Aneurysm malady

Genetic diseases, Cardiovascular diseases, Rare diseases, Bone diseases categories

Summaries for Thoracic Aortic Aneurysm

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the thorax. more...

MalaCards: Thoracic Aortic Aneurysm, also known as thoracic aortic aneurysm without mention of rupture, is related to aneurysm and aortic aneurysm. An important gene associated with Thoracic Aortic Aneurysm is ACTA2 (actin, alpha 2, smooth muscle, aorta), and among its related pathways are Senescence and Autophagy and Striated Muscle Contraction. The compounds procollagen and 1,25 dihydroxy vitamin d3 have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, lung and spinal cord, and related mouse phenotypes are digestive/alimentary and renal/urinary system.

Description from OMIM:48 611788,132900

Aliases & Classifications for Thoracic Aortic Aneurysm

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9Disease Ontology, 46Novoseek, 63UMLS, 48OMIM, 41NCIt, 59SNOMED-CT, 28ICD9CM, 36MeSH, 26ICD10
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Classifications:



Aliases & Descriptions:

thoracic aortic aneurysm 9
thoracic aortic aneurysm without mention of rupture 9
thoracic aortic aneurysm without rupture 9
aortic aneurysm, thoracic 63
aortic aneurysm thoracic 46


External Ids:

Disease Ontology9 DOID:14004
NCIt41 C27001
ICD9CM28 441.2
MeSH36 D017545
ICD1026 I71.2

Related Diseases for Thoracic Aortic Aneurysm

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Aortic Aneurysm, Familial Thoracic 4 family:

thoracic aortic aneurysm Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 2 Aortic Aneurysm, Familial Thoracic 8
Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 1

Diseases related to Thoracic Aortic Aneurysm via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 87)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm32.3COL3A1, FBN1
2aortic aneurysm32.3ACTA2, FBN1, TGFBR1
3thoracic aortic aneurysms and aortic dissections31.0TGFBR1, MYH11, ACTA2
4marfan syndrome31.0COL3A1, TGFBR1, FBN1
5lung cancer30.5SMAD3, TGFBR1, TGFB2
6ehlers-danlos syndrome30.3COL3A1, FBN1
7familial thoracic aortic aneurysm and dissection10.9
8paraplegia10.7
9ischemia10.7
10dysphagia10.7
11cerebritis10.6
12aortitis10.5
13esophagitis10.5
14abdominal aortic aneurysm10.5
15patent ductus arteriosus10.5
16wiskott-aldrich syndrome10.4
17mediastinitis10.4
18aortic aneurysm, familial thoracic 410.4
19aortic coarctation10.4
20coronary artery disease10.3
21limb ischemia10.3
22artery disease10.3
23laryngitis10.3
24pneumonia10.3
25marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels10.3
26tgfbr1-related thoracic aortic aneurysms and aortic dissections10.3
27tgfbr2-related thoracic aortic aneurysms and aortic dissections10.3
28acta2-related thoracic aortic aneurysms and aortic dissections10.3
29myh11-related thoracic aortic aneurysms and aortic dissections10.3
30fbn1-related thoracic aortic aneurysms and aortic dissections10.3
31mylk-related thoracic aortic aneurysms and aortic dissections10.3
32smad3-related thoracic aortic aneurysms and aortic dissections10.3
33critical limb ischemia10.2
34takayasu's arteritis10.2
35gastric ulcer10.2
36osteoarthritis10.2
37ulcerative colitis10.2
38polymyalgia rheumatica10.2
39polycystic kidney disease10.2
40constrictive pericarditis10.2
41systemic lupus erythematosus10.2
42angiosarcoma10.2
43aortic valve disease10.2
44arthritis10.2
45atherosclerosis10.2
46goiter10.2
47hemangiopericytoma10.2
48hypertension10.2
49kidney disease10.2
50lupus erythematosus10.2

Graphical network of the top 20 diseases related to Thoracic Aortic Aneurysm:



Diseases related to thoracic aortic aneurysm

Symptoms for Thoracic Aortic Aneurysm

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48OMIM
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Clinical features from OMIM:

611788,132900

Drugs & Therapeutics for Thoracic Aortic Aneurysm

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Thoracic Aortic Aneurysm

Drug clinical trials:

Search ClinicalTrials for Thoracic Aortic Aneurysm

Search NIH Clinical Center for Thoracic Aortic Aneurysm

Search CenterWatch for Thoracic Aortic Aneurysm

Genetic Tests for Thoracic Aortic Aneurysm

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Anatomical Context for Thoracic Aortic Aneurysm

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34MalaCards
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MalaCards organs/tissues related to Thoracic Aortic Aneurysm:

34
Smooth muscle, Lung, Spinal cord, Heart, Brain, Kidney, Thyroid, Testes

Animal Models for Thoracic Aortic Aneurysm or affiliated genes

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38MGI
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Publications for Thoracic Aortic Aneurysm

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53PubMed
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Articles related to Thoracic Aortic Aneurysm:

(show top 50)    (show all 532)
idTitleAuthorsYear
1
Left untreated: the natural course of a thoracic aortic aneurysm. (23929542)
2013
2
Hybrid treatment for thoracic aortic aneurysm combined with aberrant right subclavian artery. (23407812)
2013
3
Endovascular repair of descending thoracic aortic aneurysm in patient with Wiskott-Aldrich syndrome. (23643280)
2013
4
Appearance of thoracic aortic aneurysm on myocardial perfusion imaging. (23177336)
2013
5
Open-stent grafting with a GORE TAG thoracic endoprosthesis for an extended severely atheromatous thoracic aortic aneurysm: report of a case. (22983735)
2013
6
Antero-lateral partial sternotomy for extensive thoracic aortic aneurysm. (23243031)
2013
7
Endovascular treatment of thoracic aortic aneurysm: a single-center experience. (23790762)
2013
8
Hybrid approach to treat total thoracic aortic aneurysm in a patient undergoing emergency surgery for descending aortic rupture. (23585222)
2013
9
Late neurological recovery of paraplegia after endovascular repair of an infected thoracic aortic aneurysm. (23146426)
2013
10
Pathophysiology of thoracic aortic aneurysm (TAA): is it not one uniform aorta? Role of embryologic origin. (23993239)
2013
11
Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation. (24036495)
2013
12
Preliminary biomarkers for identification of human ascending thoracic aortic aneurysm. (24231657)
2013
13
Repair of thoracic aortic aneurysm due to noninfectious aortitis. (22309320)
2012
14
The modified chimney technique with a thoracic aortic stent graft to preserve the blood flow of the left common carotid artery for treating descending thoracic aortic aneurysm and dissection. (22701139)
2012
15
Management of a parturient with a thoracic aortic aneurysm. (21441805)
2011
16
Superior nationwide outcomes of endovascular versus open repair for isolated descending thoracic aortic aneurysm in 11,669 patients. (20951252)
2010
17
Effectiveness of combination of losartan potassium and doxycycline versus single-drug treatments in the secondary prevention of thoracic aortic aneurysm in Marfan syndrome. (20189193)
2010
18
Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model. (20621845)
2010
19
Meta-analysis of open versus endovascular repair for ruptured descending thoracic aortic aneurysm. (20347700)
2010
20
Ascending thoracic aortic aneurysms are associated with compositional remodeling and vessel stiffening but not weakening in age-matched subjects. (19154911)
2009
21
Endovascular repair of descending thoracic aortic aneurysm: review of literature. (20226348)
2009
22
Single-stage repair of extended thoracic aortic aneurysm. (19074457)
2009
23
I-131 visualization of thoracic aortic aneurysm after radioiodine administration for thyroid carcinoma. (18645377)
2008
24
Thoracic aortic aneurysm: reading the enemy's playbook. (18273667)
2008
25
Successful descending thoracic aortic aneurysm repair during a twin pregnancy: case report and literature review. (17349343)
2007
26
Paradoxical orthodeoxia in a patient with a large thoracic aortic aneurysm. (17450266)
2007
27
Descending thoracic aortic aneurysm complicated with severe vertebral erosion. (17324576)
2007
28
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. (16444274)
2006
29
Temporal disparity in the induction of matrix metalloproteinases and tissue inhibitors of metalloproteinases after thoracic aortic aneurysm formation. (17000289)
2006
30
Primary lymphoma of the aorta presenting as a descending thoracic aortic aneurysm. (16181902)
2005
31
Altered patterns of gene expression specific to thoracic aortic aneurysms: microarray analysis of surgically resected specimens. (15876810)
2005
32
F-18 FDG PET imaging features of a perigraft leak and thrombus in a patient with dissecting descending thoracic aortic aneurysm. (15483501)
2004
33
Simultaneous endovascular exclusion of thoracic aortic aneurysm with open abdominal aortic aneurysm repair. (15350571)
2004
34
Thoracic aortic aneurysm with aortobronchial fistula: a thirteen-year experience. (15024377)
2004
35
Cardiopulmonary bypass for thoracic aortic aneurysm: a report on 488 cases. (15095837)
2004
36
Emergent surgery for 3 aged patients who refused elective operation for thoracic aortic aneurysm. (14529161)
2003
37
Salvage of an acutely ruptured thoracic aortic aneurysm during CPR. (12166844)
2002
38
Magnetic resonance imaging of thoracic aortic aneurysm and dissection. (11715325)
2001
39
Ischemic transverse myelopathy after endovascular repair of a thoracic aortic aneurysm. (11491268)
2001
40
Special cerebral perfusion in surgery for the ruptured thoracic aortic aneurysm. (10522790)
1999
41
Descending thoracic aortic aneurysm: thoracic CT findings after endovascular stent-graft placement. (10405738)
1999
42
Geriatrics photo quiz. Thoracic aortic aneurysm. (9307570)
1997
43
Chronic posttraumatic thoracic aortic aneurysm presenting with dysphagia. (7674415)
1995
44
Thoracic aortic aneurysm and rupture in giant cell arteritis. A descriptive study of 41 cases. (7864947)
1994
45
Aortoesophageal fistula secondary to thoracic aortic aneurysm repair. (8282742)
1993
46
Functional aortic coarctation caused by thrombosis within a thoracic aortic aneurysm. (1572887)
1992
47
Ruptured thoracic aortic aneurysm with aorto-esophageal fistula. (3950966)
1986
48
Early diagnosis of tuberculous thoracic aortic aneurysm by computerized axial tomography. (699543)
1978
49
Traumatic thoracic aortic aneurysm. Report of a case with rupture into the left subpleural space. (5016736)
1972
50
A case study: excision of descending thoracic aortic aneurysm and graft. (5201772)
1970

Variations for Thoracic Aortic Aneurysm

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Expression for genes affiliated with Thoracic Aortic Aneurysm

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thoracic Aortic Aneurysm

Search GEO for disease gene expression data for Thoracic Aortic Aneurysm.

Pathways for genes affiliated with Thoracic Aortic Aneurysm

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 61Thomson Reuters, 5Cell Signaling Technology, 55R&D Systems, 54QIAGEN, 58SinoBiological
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Pathways related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6COL3A1, SMAD3
2
Show member pathways
9.6MYH11, ACTA2
39.5TGFB2, COL3A1
49.4SMAD3, TGFBR1
5
Show member pathways
9.4TGFBR1, SMAD3
6
Show member pathways
9.4SMAD3, TGFBR1
79.4SMAD3, TGFBR1
89.4SMAD3, TGFBR1
99.4TGFBR1, SMAD3
10
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.4TGFBR1, SMAD3
11
Show member pathways
9.4TGFBR1, SMAD3
129.4TGFBR1, SMAD3
139.4TGFBR1, SMAD3
149.3TGFB2, TGFBR1
159.3TGFB2, TGFBR1
169.3TGFB2, TGFBR1
179.3TGFBR1, TGFB2
18
Show member pathways
9.3TGFB2, TGFBR1
19
Show member pathways
9.1TGFB2, FBN1
20
Show member pathways
9.0TGFB2, ACTA2, TGFBR1
21
Show member pathways
9.0ACTA2, TGFB2, TGFBR1
22
Show member pathways
9.0TGFB2, TGFBR1, ACTA2
23
Show member pathways
9.0ACTA2, TGFB2, TGFBR1
249.0TGFBR1, ACTA2, TGFB2
258.9SMAD3, TGFB2, TGFBR1
26
Show member pathways
Signal transduction PTEN pathway61
8.9TGFB2, SMAD3, TGFBR1
278.9SMAD3, TGFB2, TGFBR1
28
Show member pathways
8.9SMAD3, TGFB2, TGFBR1
29
Show member pathways
8.9SMAD3, TGFB2, TGFBR1
30
Show member pathways
8.9TGFBR1, SMAD3, TGFB2
31
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation61
8.9TGFB2, TGFBR1, SMAD3
328.9TGFBR1, TGFB2, SMAD3
33
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.9SMAD3, TGFBR1, TGFB2
348.9TGFBR1, SMAD3, TGFB2
358.9TGFB2, TGFBR1, SMAD3
36
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
8.9TGFB2, TGFBR1, SMAD3
378.9TGFBR1, SMAD3, TGFB2
388.9TGFB2, TGFBR1, SMAD3
398.9SMAD3, TGFBR1, TGFB2
40
Show member pathways
8.7TGFB2, COL3A1, FBN1
41
Show member pathways
8.4MYH11, TGFBR1, TGFB2, ACTA2
42
Show member pathways
8.4ACTA2, MYH11, TGFB2, TGFBR1
43
Show member pathways
7.7COL3A1, FBN1, ACTA2, TGFB2, TGFBR1
44
Show member pathways
7.2TGFB2, TGFBR1, MYH11, FBN1, ACTA2, COL3A1
45
Show member pathways
7.2TGFBR1, FBN1, TGFB2, MYH11, ACTA2, COL3A1

Compounds for genes affiliated with Thoracic Aortic Aneurysm

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Sources:
46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 62Tocris Bioscience
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Compounds related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1procollagen469.6COL3A1, SMAD3
21,25 dihydroxy vitamin d3469.5TGFB2, SMAD3
3thymidine46 2510.2COL3A1, TGFB2, SMAD3
4dihydrotestosterone46 30 25 1212.2TGFB2, TGFBR1, SMAD3
5ribonucleic acid469.2TGFBR1, TGFB2, COL3A1
6matrigel469.1TGFB2, TGFBR1, SMAD3
7ly294002469.1SMAD3, TGFBR1, MYH11
8paraffin469.0MYH11, TGFB2, TGFBR1
9cycloheximide468.9TGFB2, TGFBR1, SMAD3
10vitamin d468.9TGFB2, FBN1, SMAD3
11vegf468.6MYH11, TGFB2, TGFBR1, SMAD3
12nitric oxide46 25 1210.6SMAD3, TGFBR1, TGFB2, MYH11
13heparin46 30 25 1211.6FBN1, TGFBR1, TGFB2
14oligonucleotide468.6TGFB2, TGFBR1, SMAD3
15tgf beta1468.4TGFB2, TGFBR1, FBN1, SMAD3
16progesterone46 30 62 25 1212.3FBN1, TGFBR1, TGFB2, MYH11
17retinoic acid46 259.2MYH11, TGFB2, TGFBR1, FBN1
18tyrosine468.0SMAD3, FBN1, TGFBR1, TGFB2
19estrogen467.9SMAD3, FBN1, TGFBR1, TGFB2, MYH11
20serine467.8SMAD3, FBN1, TGFBR1, TGFB2, MYH11

GO Terms for genes affiliated with Thoracic Aortic Aneurysm

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17Gene Ontology
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Cellular components related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1smooth muscle contractile fiberGO:0304859.6ACTA2, MYH11
2receptor complexGO:0432359.4TGFBR1, SMAD3
3extracellular matrixGO:0310128.6COL3A1, TGFB2, FBN1
4extracellular spaceGO:0056158.0FBN1, TGFB2, ACTA2, COL3A1

Biological processes related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of immune responseGO:0507779.8COL3A1, TGFB2
2regulation of transforming growth factor beta2 productionGO:0329099.8TGFB2, SMAD3
3positive regulation of epithelial to mesenchymal transitionGO:0107189.8TGFB2, SMAD3
4extrinsic apoptotic signaling pathwayGO:0971919.7TGFB2, SMAD3
5embryonic cranial skeleton morphogenesisGO:0487019.7TGFBR1, SMAD3
6cell-cell junction organizationGO:0452169.6TGFB2, SMAD3
7pathway-restricted SMAD protein phosphorylationGO:0603899.6TGFB2, TGFBR1
8neuron fate commitmentGO:0486639.6TGFBR1, TGFB2
9epithelial to mesenchymal transitionGO:0018379.6TGFBR1, TGFB2
10negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.5TGFBR1, SMAD3
11negative regulation of cell growthGO:0303089.5TGFB2, SMAD3
12muscle contractionGO:0069369.5ACTA2, MYH11
13positive regulation of cell growthGO:0303079.4TGFB2, TGFBR1
14collagen fibril organizationGO:0301999.3TGFBR1, TGFB2, COL3A1
15axon guidanceGO:0074119.2TGFB2, MYH11, COL3A1
16cell cycle arrestGO:0070509.2SMAD3, TGFBR1, TGFB2
17kidney developmentGO:0018229.0FBN1, TGFBR1
18extracellular matrix disassemblyGO:0226178.9COL3A1, FBN1
19extracellular matrix organizationGO:0301988.9COL3A1, TGFB2, FBN1
20skeletal system developmentGO:0015018.9COL3A1, TGFBR1, FBN1
21wound healingGO:0420608.8COL3A1, TGFB2, TGFBR1, SMAD3
22transforming growth factor beta receptor signaling pathwayGO:0071798.8SMAD3, TGFBR1, TGFB2, COL3A1
23heart developmentGO:0075078.4COL3A1, TGFB2, TGFBR1, FBN1

Molecular functions related to Thoracic Aortic Aneurysm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:0051609.5TGFB2, SMAD3
2type II transforming growth factor beta receptor bindingGO:0051149.4TGFB2, TGFBR1
3SMAD bindingGO:0463329.3COL3A1, TGFBR1
4extracellular matrix structural constituentGO:0052018.9FBN1, COL3A1
5protein bindingGO:0055157.1COL3A1, MYH11, TGFB2, TGFBR1, FBN1, SMAD3

Products for genes affiliated with Thoracic Aortic Aneurysm

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Sources for Thoracic Aortic Aneurysm

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet