MCID: THR027
MIFTS: 41

Thoracic Aortic Aneurysms and Aortic Dissections malady

Genetic diseases (common) category

Summaries for Thoracic Aortic Aneurysms and Aortic Dissections

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20GeneReviews, 34MalaCards
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MalaCards: Thoracic Aortic Aneurysms and Aortic Dissections is related to aneurysm and thoracic aortic aneurysm. An important gene associated with Thoracic Aortic Aneurysms and Aortic Dissections is TGFBR2 (transforming growth factor, beta receptor II (70/80kDa)), and among its related pathways are Cell adhesion Plasmin signaling and ALK1 signaling events. The compounds taad and bleomycin have been mentioned in the context of this disorder. Related mouse phenotypes are embryogenesis and digestive/alimentary.

GeneReviews summary for taa

Aliases & Classifications for Thoracic Aortic Aneurysms and Aortic Dissections

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20GeneReviews, 21GeneTests, 23GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

thoracic aortic aneurysms and aortic dissections 20 21 23


Related Diseases for Thoracic Aortic Aneurysms and Aortic Dissections

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18GeneCards, 19GeneDecks
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Diseases in the Thoracic Aortic Aneurysms and Aortic Dissections family:

Tgfbr1-Related Thoracic Aortic Aneurysms and Aortic Dissections Tgfbr2-Related Thoracic Aortic Aneurysms and Aortic Dissections
Acta2-Related Thoracic Aortic Aneurysms and Aortic Dissections Myh11-Related Thoracic Aortic Aneurysms and Aortic Dissections
Fbn1-Related Thoracic Aortic Aneurysms and Aortic Dissections Mylk-Related Thoracic Aortic Aneurysms and Aortic Dissections
Smad3-Related Thoracic Aortic Aneurysms and Aortic Dissections

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.2TGFBR2, FBN1
2thoracic aortic aneurysm31.1FBN1, TGFBR2, MYH11
3aortic aneurysm31.1ACTA2, FBN1, TGFBR1, TGFBR2
4tgfbr1-related thoracic aortic aneurysms and aortic dissections10.6
5tgfbr2-related thoracic aortic aneurysms and aortic dissections10.6
6acta2-related thoracic aortic aneurysms and aortic dissections10.6
7myh11-related thoracic aortic aneurysms and aortic dissections10.6
8fbn1-related thoracic aortic aneurysms and aortic dissections10.6
9mylk-related thoracic aortic aneurysms and aortic dissections10.6
10smad3-related thoracic aortic aneurysms and aortic dissections10.6
11pneumonia10.4
12aortic aneurysm, familial thoracic 410.4
13geleophysic dysplasia 210.1FBN1
14acromicric dysplasia10.1FBN1
15aortic disease10.1FBN1
16leiomyoma10.1SMAD3, TGFBR2
17cleft palate10.0TGFBR2, TGFBR1
18pulmonary fibrosis10.0TGFBR2, SMAD3
19renal fibrosis10.0TGFBR1, SMAD3
20keloids10.0TGFBR1, SMAD3
21connective tissue disease10.0TGFBR2, FBN1
22pancreatic cancer10.0TGFBR2, TGFBR1
23transitional cell carcinoma10.0TGFBR1, TGFBR2
24familial adenomatous polyposis10.0TGFBR2, SMAD3
25telangiectasis10.0FBN1, TGFBR1
26glomerulonephritis10.0TGFBR2, TGFBR1
27diabetic nephropathy10.0SMAD3, TGFBR1, TGFBR2
28squamous cell carcinoma of the head and neck10.0TGFBR2, TGFBR1, SMAD3
29hypertrophic scars10.0TGFBR2, FBN1, SMAD3
30stomach cancer10.0TGFBR2, TGFBR1, SMAD3
31marfan syndrome10.0TGFBR2, TGFBR1, FBN1
32ovarian cancer10.0TGFBR2, TGFBR1, SMAD3
33pituitary adenoma10.0TGFBR2, TGFBR1
34systemic scleroderma10.0TGFBR1, FBN1, SMAD3
35colon cancer10.0TGFBR2, TGFBR1, SMAD3
36lung cancer10.0SMAD3, TGFBR1, TGFBR2
37colorectal cancer10.0SMAD3, TGFBR1, TGFBR2
38loeys-dietz syndrome10.0FBN1, TGFBR1, TGFBR2, ACTA2
39hepatocellular carcinoma9.9TGFBR2, TGFBR1, FBN1, SMAD3
40adenocarcinoma9.9MYH11, TGFBR2, TGFBR1, SMAD3
41breast cancer9.9MYH11, TGFBR2, TGFBR1, SMAD3

Graphical network of the top 20 diseases related to Thoracic Aortic Aneurysms and Aortic Dissections:



Diseases related to thoracic aortic aneurysms and aortic dissections

Symptoms for Thoracic Aortic Aneurysms and Aortic Dissections

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Drugs & Therapeutics for Thoracic Aortic Aneurysms and Aortic Dissections

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Thoracic Aortic Aneurysms and Aortic Dissections

Drug clinical trials:

Search ClinicalTrials for Thoracic Aortic Aneurysms and Aortic Dissections

Search NIH Clinical Center for Thoracic Aortic Aneurysms and Aortic Dissections

Search CenterWatch for Thoracic Aortic Aneurysms and Aortic Dissections

Genetic Tests for Thoracic Aortic Aneurysms and Aortic Dissections

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21GeneTests, 23GTR
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Genetic tests related to Thoracic Aortic Aneurysms and Aortic Dissections:

id Genetic test Affiliating Genes
1 Thoracic Aortic Aneurysms and Aortic Dissections21 23 TGFBR2

Anatomical Context for Thoracic Aortic Aneurysms and Aortic Dissections

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Animal Models for Thoracic Aortic Aneurysms and Aortic Dissections or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Thoracic Aortic Aneurysms and Aortic Dissections:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5TGFBR2, TGFBR1, FBN1, SMAD3
2MP:00053818.3SMAD3, TGFBR2, MYLK, MYH11
3MP:00053888.2MYH11, TGFBR2, TGFBR1, FBN1
4MP:00053908.2SMAD3, FBN1, TGFBR1, TGFBR2, MYLK
5MP:00053678.2SMAD3, FBN1, MYLK, MYH11
6MP:00053877.9MYLK, TGFBR2, TGFBR1, FBN1, SMAD3
7MP:00107717.8SMAD3, FBN1, TGFBR1, MYH11
8MP:00053697.4FBN1, TGFBR1, TGFBR2, MYLK, MYH11, ACTA2
9MP:00053787.4SMAD3, FBN1, TGFBR1, TGFBR2, MYLK, MYH11
10MP:00053767.3SMAD3, FBN1, TGFBR1, TGFBR2, MYLK, MYH11
11MP:00107687.3SMAD3, FBN1, TGFBR1, TGFBR2, MYLK, MYH11
12MP:00053857.0ACTA2, SMAD3, FBN1, TGFBR1, TGFBR2, MYLK

Publications for Thoracic Aortic Aneurysms and Aortic Dissections

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53PubMed
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Articles related to Thoracic Aortic Aneurysms and Aortic Dissections:

idTitleAuthorsYear
1
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. (21909107)
2011
2
Persistent Chlamydophila pneumoniae infection in thoracic aortic aneurysm and aortic dissection? (20384541)
2010
3
Genetic basis of thoracic aortic aneurysms and aortic dissections. (16273536)
2005
4
Thoracic aortic aneurysm and aortic dissection: new endoscopic mode for three-dimensional CT display of aorta. (8596868)
1996
5
Thoracic Aortic Aneurysms and Aortic Dissections (20301299)
1993

Variations for Thoracic Aortic Aneurysms and Aortic Dissections

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Expression for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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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 Aneurysms and Aortic Dissections

Search GEO for disease gene expression data for Thoracic Aortic Aneurysms and Aortic Dissections.

Pathways for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN, 55R&D Systems, 62Tocris Bioscience, 58SinoBiological, 31KEGG, 56Reactome, 5Cell Signaling Technology
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Pathways related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards/GeneDecks:

(show all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TGFBR1, TGFBR2
2
Show member pathways
ALK1 pathway39
9.6TGFBR2, TGFBR1
39.6TGFBR2, TGFBR1
49.6TGFBR2, TGFBR1
59.6TGFBR2, TGFBR1
6
Show member pathways
9.6TGFBR2, TGFBR1
7
Show member pathways
9.6TGFBR2, TGFBR1
89.5TGFBR1, SMAD3
99.5TGFBR1, SMAD3
109.2ACTA2, TGFBR2, TGFBR1
11
Show member pathways
9.2ACTA2, TGFBR2, TGFBR1
129.1SMAD3, TGFBR1, TGFBR2
139.1SMAD3, TGFBR1, TGFBR2
149.1SMAD3, TGFBR1, TGFBR2
159.1SMAD3, TGFBR1, TGFBR2
16
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
9.1SMAD3, TGFBR1, TGFBR2
17
Show member pathways
9.1SMAD3, TGFBR1, TGFBR2
189.1SMAD3, TGFBR1, TGFBR2
199.1SMAD3, TGFBR1, TGFBR2
20
Show member pathways
9.1SMAD3, TGFBR1, TGFBR2
21
Show member pathways
9.1TGFBR2, TGFBR1, SMAD3
229.1TGFBR2, TGFBR1, SMAD3
23
Show member pathways
9.1TGFBR2, TGFBR1, SMAD3
249.1TGFBR2, TGFBR1, SMAD3
259.1TGFBR2, TGFBR1, SMAD3
269.1TGFBR2, TGFBR1, SMAD3
27
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
9.1TGFBR2, TGFBR1, SMAD3
28
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation61
9.1TGFBR2, TGFBR1, SMAD3
29
Show member pathways
9.1TGFBR2, TGFBR1, SMAD3
30
Show member pathways
Signal transduction PTEN pathway61
9.1TGFBR2, TGFBR1, SMAD3
31
Show member pathways
9.1TGFBR2, TGFBR1, SMAD3
329.1TGFBR2, TGFBR1, SMAD3
33
Show member pathways
Translation Non genomic rapid action of Androgen Receptor61
9.1TGFBR2, TGFBR1, SMAD3
349.1TGFBR2, TGFBR1, SMAD3
35
Show member pathways
9.1TGFBR1, TGFBR2, MYLK
36
Show member pathways
9.0ACTA2, MYLK, TGFBR1
37
Show member pathways
8.9ACTA2, TGFBR1, FBN1
38
Show member pathways
8.7ACTA2, MYH11, MYLK
39
Show member pathways
8.7ACTA2, MYH11, MYLK
40
Show member pathways
8.7MYLK, MYH11, ACTA2
41
Show member pathways
8.7ACTA2, MYH11, MYLK
42
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
8.7MYLK, MYH11, ACTA2
43
Show member pathways
8.6TGFBR1, TGFBR2, MYLK, ACTA2
44
Show member pathways
8.3TGFBR1, TGFBR2, MYH11, ACTA2
45
Show member pathways
7.8ACTA2, MYH11, MYLK, TGFBR2, TGFBR1
46
Show member pathways
7.2ACTA2, MYH11, MYLK, TGFBR2, TGFBR1, FBN1
47
Show member pathways
7.2FBN1, TGFBR1, TGFBR2, MYLK, MYH11, ACTA2

Compounds for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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

(show all 19)
idCompoundScoreTop Affiliating Genes
1taad469.8TGFBR2, FBN1
2bleomycin46 1210.5SMAD3, TGFBR2
3dihydrotestosterone46 30 25 1212.4SMAD3, TGFBR1, TGFBR2
4cycloheximide469.1TGFBR2, TGFBR1, SMAD3
5oligonucleotide469.1TGFBR2, TGFBR1, SMAD3
6vitamin d469.1TGFBR2, FBN1, SMAD3
7tgf beta1468.8SMAD3, FBN1, TGFBR1, TGFBR2
8threonine468.8SMAD3, TGFBR1, TGFBR2, MYLK
9magnesium46 25 1210.8MYLK, TGFBR2, TGFBR1
10glucose468.7SMAD3, TGFBR1, TGFBR2, MYLK
11ly294002468.6SMAD3, TGFBR1, TGFBR2, MYH11
12vegf468.5SMAD3, TGFBR1, TGFBR2, MYH11
13progesterone46 30 62 25 1212.4MYH11, TGFBR2, TGFBR1, FBN1
14retinoic acid46 259.3MYH11, TGFBR2, TGFBR1, FBN1
15alanine468.3SMAD3, FBN1, TGFBR1, TGFBR2, MYLK
16tyrosine468.2MYLK, TGFBR2, TGFBR1, FBN1, SMAD3
17nitric oxide46 25 1210.1SMAD3, TGFBR1, TGFBR2, MYLK, MYH11
18estrogen467.5MYH11, MYLK, TGFBR2, TGFBR1, FBN1, SMAD3
19serine467.5SMAD3, FBN1, TGFBR1, TGFBR2, MYLK, MYH11

GO Terms for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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17Gene Ontology
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Cellular components related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.6TGFBR2, TGFBR1
2smooth muscle contractile fiberGO:0304859.3ACTA2, MYH11
3stress fiberGO:0017259.1MYH11, MYLK
4receptor complexGO:0432359.0TGFBR2, TGFBR1, SMAD3
5cytosolGO:0058297.6SMAD3, TGFBR2, MYLK, MYH11, ACTA2

Biological processes related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:0707239.8TGFBR2, TGFBR1
2pathway-restricted SMAD protein phosphorylationGO:0603899.8TGFBR1, TGFBR2
3lens development in camera-type eyeGO:0020889.7TGFBR2, TGFBR1
4peptidyl-threonine phosphorylationGO:0181079.6TGFBR1, TGFBR2
5peptidyl-serine phosphorylationGO:0181059.5TGFBR1, TGFBR2
6embryonic cranial skeleton morphogenesisGO:0487019.4TGFBR2, TGFBR1, SMAD3
7wound healingGO:0420609.4SMAD3, TGFBR1, TGFBR2
8negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.4TGFBR2, TGFBR1, SMAD3
9transforming growth factor beta receptor signaling pathwayGO:0071799.4SMAD3, TGFBR1, TGFBR2
10kidney developmentGO:0018229.3TGFBR1, FBN1
11smooth muscle contractionGO:0069399.3MYH11, MYLK
12palate developmentGO:0600219.3TGFBR2, TGFBR1
13in utero embryonic developmentGO:0017019.3TGFBR2, TGFBR1, SMAD3
14heart developmentGO:0075079.2TGFBR2, TGFBR1, FBN1
15protein phosphorylationGO:0064689.1MYLK, TGFBR2, TGFBR1
16muscle contractionGO:0069369.0MYLK, MYH11, ACTA2

Molecular functions related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:0050249.6TGFBR2, TGFBR1
2transforming growth factor beta bindingGO:0504319.5TGFBR1, TGFBR2
3SMAD bindingGO:0463329.3TGFBR2, TGFBR1
4ATP bindingGO:0055247.9ACTA2, MYH11, MYLK, TGFBR2, TGFBR1
5protein bindingGO:0055157.2MYH11, MYLK, TGFBR2, TGFBR1, FBN1, SMAD3

Products for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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Sources for Thoracic Aortic Aneurysms and Aortic Dissections

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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