MCID: THR027
MIFTS: 33

Thoracic Aortic Aneurysms and Aortic Dissections malady

Genetic diseases (common) category

Aliases & Classifications for Thoracic Aortic Aneurysms and Aortic Dissections

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Aliases & Descriptions for Thoracic Aortic Aneurysms and Aortic Dissections:

Name: Thoracic Aortic Aneurysms and Aortic Dissections 19 20 22


Classifications:



Summaries for Thoracic Aortic Aneurysms and Aortic Dissections

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MalaCards based summary: 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 ALK1 signaling events and IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types. 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

Related Diseases for Thoracic Aortic Aneurysms and Aortic Dissections

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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 Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1aneurysm31.5FBN1, TGFBR2
2thoracic aortic aneurysm30.9FBN1, TGFBR2, MYH11
3aortic aneurysm30.9ACTA2, FBN1, TGFBR1, TGFBR2
4tgfbr1-related thoracic aortic aneurysms and aortic dissections10.7
5tgfbr2-related thoracic aortic aneurysms and aortic dissections10.7
6acta2-related thoracic aortic aneurysms and aortic dissections10.7
7myh11-related thoracic aortic aneurysms and aortic dissections10.7
8fbn1-related thoracic aortic aneurysms and aortic dissections10.7
9mylk-related thoracic aortic aneurysms and aortic dissections10.7
10smad3-related thoracic aortic aneurysms and aortic dissections10.7
11pneumonia10.4
12geleophysic dysplasia 210.4FBN1
13acromicric dysplasia10.4FBN1
14aortic disease10.3FBN1
15leiomyoma10.2TGFBR2, SMAD3
16cleft palate, isolated10.2TGFBR1, TGFBR2
17pulmonary fibrosis10.2TGFBR2, SMAD3
18renal fibrosis10.2TGFBR1, SMAD3
19keloids10.2SMAD3, TGFBR1
20connective tissue disease10.2FBN1, TGFBR2
21pancreatic cancer10.1TGFBR2, TGFBR1
22transitional cell carcinoma10.1TGFBR2, TGFBR1
23adenomatous polyposis coli10.1SMAD3, TGFBR2
24telangiectasis10.1TGFBR1, FBN1
25glomerulonephritis10.1TGFBR1, TGFBR2
26microvascular complications of diabetes 310.0TGFBR1, SMAD3, TGFBR2
27squamous cell carcinoma, head and neck10.0TGFBR2, TGFBR1, SMAD3
28hypertrophic scars10.0TGFBR2, SMAD3, FBN1
29gastric cancer, somatic10.0TGFBR1, SMAD3, TGFBR2
30marfan syndrome10.0TGFBR1, FBN1, TGFBR2
31ovarian cancer, somatic10.0TGFBR2, TGFBR1, SMAD3
32pituitary adenoma9.9TGFBR2, TGFBR1
33systemic scleroderma9.9SMAD3, TGFBR1, FBN1
34lung cancer9.9SMAD3, TGFBR1, TGFBR2
35colorectal cancer9.8SMAD3, TGFBR2, TGFBR1
36loeys-dietz syndrome9.8ACTA2, TGFBR1, TGFBR2, FBN1
37hepatocellular carcinoma9.7FBN1, TGFBR2, TGFBR1, SMAD3
38adenocarcinoma9.7MYH11, TGFBR1, SMAD3, TGFBR2
39breast cancer9.6TGFBR2, TGFBR1, SMAD3, MYH11

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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Drug clinical trials:

Search ClinicalTrials for Thoracic Aortic Aneurysms and Aortic Dissections

Search NIH Clinical Center for Thoracic Aortic Aneurysms and Aortic Dissections

Genetic Tests for Thoracic Aortic Aneurysms and Aortic Dissections

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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 Dissections20 22 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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MGI Mouse Phenotypes related to Thoracic Aortic Aneurysms and Aortic Dissections:

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

Publications for Thoracic Aortic Aneurysms and Aortic Dissections

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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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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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Pathways related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 47)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
ALK1 pathway36
9.6TGFBR1, TGFBR2
29.6TGFBR1, TGFBR2
3
Show member pathways
9.6TGFBR1, TGFBR2
49.6TGFBR1, TGFBR2
5
Show member pathways
9.6TGFBR2, TGFBR1
69.6TGFBR2, TGFBR1
79.6TGFBR2, TGFBR1
89.5TGFBR1, SMAD3
99.5TGFBR1, SMAD3
10
Show member pathways
9.2TGFBR1, TGFBR2, ACTA2
119.2ACTA2, TGFBR2, TGFBR1
12
Show member pathways
9.1SMAD3, TGFBR2, TGFBR1
139.1TGFBR1, TGFBR2, SMAD3
14
Show member pathways
Translation Non genomic rapid action of Androgen Receptor59
9.1SMAD3, TGFBR2, TGFBR1
15
Show member pathways
9.1SMAD3, TGFBR2, TGFBR1
16
Show member pathways
9.1SMAD3, TGFBR2, TGFBR1
179.1TGFBR1, SMAD3, TGFBR2
18
Show member pathways
9.1TGFBR1, SMAD3, TGFBR2
19
Show member pathways
9.1SMAD3, TGFBR1, TGFBR2
209.1SMAD3, TGFBR2, TGFBR1
219.1SMAD3, TGFBR2, TGFBR1
229.1SMAD3, TGFBR1, TGFBR2
23
Show member pathways
Toll-like receptor signaling pathway36
Regulation of toll-like receptor signaling pathway36
9.1TGFBR1, TGFBR2, SMAD3
24
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.1TGFBR2, SMAD3, TGFBR1
259.1TGFBR2, TGFBR1, SMAD3
269.1TGFBR2, TGFBR1, SMAD3
279.1TGFBR2, TGFBR1, SMAD3
289.1TGFBR2, TGFBR1, SMAD3
299.1TGFBR2, TGFBR1, SMAD3
30
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation59
9.1TGFBR2, TGFBR1, SMAD3
31
Show member pathways
9.1TGFBR2, TGFBR1, SMAD3
329.1TGFBR2, TGFBR1, SMAD3
33
Show member pathways
Signal transduction PTEN pathway59
9.1TGFBR2, TGFBR1, SMAD3
349.1TGFBR2, TGFBR1, SMAD3
35
Show member pathways
9.1MYLK, TGFBR2, TGFBR1
36
Show member pathways
9.0TGFBR1, ACTA2, MYLK
37
Show member pathways
8.9ACTA2, FBN1, TGFBR1
38
Show member pathways
8.7ACTA2, MYLK, MYH11
39
Show member pathways
8.7MYLK, ACTA2, MYH11
40
Show member pathways
8.7ACTA2, MYLK, MYH11
41
Show member pathways
8.7ACTA2, MYH11, MYLK
42
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility59
Cytoskeleton remodeling Integrin outside in signaling59
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases59
Cell adhesion Tight junctions59
Development MAG dependent inhibition of neurite outgrowth59
8.7MYLK, MYH11, ACTA2
43
Show member pathways
8.6TGFBR1, ACTA2, MYLK, TGFBR2
44
Show member pathways
8.3ACTA2, TGFBR2, TGFBR1, MYH11
45
Show member pathways
7.8MYLK, MYH11, TGFBR1, TGFBR2, ACTA2
46
Show member pathways
7.2MYH11, MYLK, TGFBR2, ACTA2, TGFBR1, FBN1
47
Show member pathways
7.2MYH11, FBN1, TGFBR1, TGFBR2, MYLK, ACTA2

Compounds for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1taad449.8TGFBR2, FBN1
2bleomycin44 1110.5SMAD3, TGFBR2
3dihydrotestosterone44 28 24 1112.4TGFBR2, SMAD3, TGFBR1
4cycloheximide449.1TGFBR2, SMAD3, TGFBR1
5oligonucleotide449.1TGFBR2, SMAD3, TGFBR1
6vitamin d449.1TGFBR2, SMAD3, FBN1
7tgf beta1448.8SMAD3, FBN1, TGFBR2, TGFBR1
8threonine448.8SMAD3, TGFBR1, TGFBR2, MYLK
9magnesium44 24 1110.8MYLK, TGFBR2, TGFBR1
10glucose448.7MYLK, TGFBR1, SMAD3, TGFBR2
11ly294002448.6SMAD3, TGFBR1, MYH11, TGFBR2
12vegf448.5SMAD3, MYH11, TGFBR1, TGFBR2
13progesterone44 28 60 24 1112.4TGFBR2, FBN1, TGFBR1, MYH11
14retinoic acid44 249.3MYH11, TGFBR2, TGFBR1, FBN1
15alanine448.3FBN1, SMAD3, TGFBR1, TGFBR2, MYLK
16tyrosine448.2SMAD3, TGFBR1, TGFBR2, MYLK, FBN1
17nitric oxide44 24 1110.1MYH11, MYLK, TGFBR2, TGFBR1, SMAD3
18estrogen447.5MYH11, SMAD3, FBN1, TGFBR1, TGFBR2, MYLK
19serine447.5MYLK, SMAD3, FBN1, TGFBR1, MYH11, TGFBR2

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

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Cellular components related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:00700229.6TGFBR2, TGFBR1
2smooth muscle contractile fiberGO:00304859.3ACTA2, MYH11
3stress fiberGO:00017259.1MYH11, MYLK
4receptor complexGO:00432359.0TGFBR2, TGFBR1, SMAD3
5cytosolGO:00058297.6SMAD3, TGFBR2, MYLK, MYH11, ACTA2

Biological processes related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:00707239.8TGFBR2, TGFBR1
2pathway-restricted SMAD protein phosphorylationGO:00603899.8TGFBR1, TGFBR2
3lens development in camera-type eyeGO:00020889.7TGFBR2, TGFBR1
4peptidyl-threonine phosphorylationGO:00181079.6TGFBR1, TGFBR2
5peptidyl-serine phosphorylationGO:00181059.5TGFBR1, TGFBR2
6embryonic cranial skeleton morphogenesisGO:00487019.4TGFBR2, TGFBR1, SMAD3
7wound healingGO:00420609.4SMAD3, TGFBR1, TGFBR2
8negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.4TGFBR2, TGFBR1, SMAD3
9transforming growth factor beta receptor signaling pathwayGO:00071799.4SMAD3, TGFBR1, TGFBR2
10kidney developmentGO:00018229.3TGFBR1, FBN1
11smooth muscle contractionGO:00069399.3MYH11, MYLK
12palate developmentGO:00600219.3TGFBR2, TGFBR1
13in utero embryonic developmentGO:00017019.3TGFBR2, TGFBR1, SMAD3
14heart developmentGO:00075079.2TGFBR2, TGFBR1, FBN1
15protein phosphorylationGO:00064689.1MYLK, TGFBR2, TGFBR1
16muscle contractionGO:00069369.0MYLK, MYH11, ACTA2

Molecular functions related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00050249.6TGFBR2, TGFBR1
2transforming growth factor beta bindingGO:00504319.5TGFBR1, TGFBR2
3SMAD bindingGO:00463329.3TGFBR2, TGFBR1
4ATP bindingGO:00055247.9ACTA2, MYH11, MYLK, TGFBR2, TGFBR1
5protein bindingGO:00055157.2MYH11, MYLK, TGFBR2, TGFBR1, FBN1, SMAD3

Sources for Thoracic Aortic Aneurysms and Aortic Dissections

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet