Thoracic Aortic Aneurysms and Aortic Dissections malady

Genetics Home Reference: Familial thoracic aortic aneurysm and dissection (familial TAAD) is a disorder that involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax).¹⁷

MalaCards: Thoracic Aortic Aneurysms and Aortic Dissections, also known as thoracic aortic aneurysms and dissection, is related to thoracic aortic aneurysm and aortic aneurysm. An important gene associated with Thoracic Aortic Aneurysms and Aortic Dissections is MYH11 (myosin, heavy chain 11, smooth muscle), and among its related pathways are Epithelial Adherens Junctions and Epithelial Tight Junctions. The compounds taad and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are cardiovascular system and respiratory system.

GeneReviews summary for taa

thoracic aortic aneurysms and aortic dissections 15 16 thoracic aortic aneurysms and dissection 16 thoracic aortic dissection 16

aortic aneurysm, thoracic 43 dissection of aorta 43 taad 16

Diseases related to thoracic aortic aneurysms and aortic dissections by text searches and GeneDecks gene sharing:

(show all 32)

id	Related Disease	Score	Top Affiliating Genes
1	thoracic aortic aneurysm	32.5	FBN1, TGFBR2, MYH11
2	aortic aneurysm	32.5	FBN1, TGFBR2, MYH11
3	abdominal aortic aneurysm	30.8	TGFBR2, FBN1
4	familial thoracic aortic aneurysm and dissection	29.2	FBN1, TGFBR2, MYH11
5	patent ductus arteriosus	12.6	TGFBR2, MYH11
6	loeys-dietz syndrome	12.5	FBN1, TGFBR2
7	marfan syndrome	12.4	FBN1, TGFBR2
8	aneurysm disease	12.4	TGFBR2, FBN1
9	primary pulmonary hypertension	12.4	FBN1, TGFBR2
10	craniosynostosis	12.4	FBN1, TGFBR2
11	keloids	12.4	FBN1, TGFBR2
12	connective tissue disease	12.4	TGFBR2, FBN1
13	pancreatic ductal carcinoma	12.3	TGFBR2, MYH11
14	lichen planus	12.3	TGFBR2, FBN1
15	was-related disorders	12.2	FBN1, TGFBR2
16	mental retardation syndrome	12.2	FBN1, TGFBR2
17	systemic scleroderma	12.0	FBN1, TGFBR2
18	pulmonary hypertension	11.8	MYH11, TGFBR2, FBN1
19	boomerang dysplasia	11.8	FBN1, TGFBR2
20	fibrosis	11.7	FBN1, TGFBR2, MYH11
21	hypertension	11.7	FBN1, TGFBR2, MYH11
22	marfan syndrome/ loeys-dietz syndrome/ familial thoracic aortic aneurysms and dissections multi-gene panels	9.8
23	acta2-related thoracic aortic aneurysms and aortic dissections	9.8
24	fbn1-related thoracic aortic aneurysms and aortic dissections	9.8
25	myh11-related thoracic aortic aneurysms and aortic dissections	9.8
26	mylk-related thoracic aortic aneurysms and aortic dissections	9.8
27	smad3-related thoracic aortic aneurysms and aortic dissections	9.8
28	tgfbr1-related thoracic aortic aneurysms and aortic dissections	9.8
29	tgfbr2-related thoracic aortic aneurysms and aortic dissections	9.8
30	ruptured thoracic aortic aneurysm	8.3
31	ruptured abdominal aortic aneurysm	7.4
32	aortic dissection lentiginosis	6.8

Approved drugs:

Drug clinical trials:

Genetic tests related to thoracic aortic aneurysms and aortic dissections:

id	Genetic test	Affiliating Genes
1	Thoracic Aortic Aneurysms And Aortic Dissections clinical/research	ACTA2, FBN1, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2

MalaCards organs/tissues related to thoracic aortic aneurysms and aortic dissections:

²²

MGI Mouse Phenotypes related to thoracic aortic aneurysms and aortic dissections:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system phenotype	MP:0005385	8.5	FBN1, TGFBR2, MYH11
2	respiratory system phenotype	MP:0005388	8.4	FBN1, TGFBR2, MYH11
3	muscle phenotype	MP:0005369	8.2	FBN1, TGFBR2, MYH11

Articles related to thoracic aortic aneurysms and aortic dissections:

id	Title	Authors	Year	Affiliating Genes
1	Genome-wide association study identifies a susceptibi lity locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 a t 15q21.1. (21909107)	LeMaire S.A.... Milewicz D.M.	2011	FBN1
2	Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. (16444274)	Zhu L.... Jeunemaitre X.	2006	MYH11
3	Genetic basis of thoracic aortic aneurysms and aortic dissections. (16273536)	Pannu H.... Milewicz D.M.	2005	TGFBR2

Genes related to thoracic aortic aneurysms and aortic dissections according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	MYH11	myosin, heavy chain 11, smooth muscle	11.0	Publications
2	FBN1	fibrillin 1	11.0	Publications
3	TGFBR2	transforming growth factor, beta receptor II (70/80kDa)	11.0	Publications

Pathways related to thoracic aortic aneurysms and aortic dissections according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Epithelial Adherens Junctions36	9.3	TGFBR2, MYH11
2	Epithelial Tight Junctions36	9.0	TGFBR2, MYH11
3	Inhibition of Angiogenesis by TSP136	9.0	FBN1, TGFBR2

Compounds related to thoracic aortic aneurysms and aortic dissections according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	taad32	9.3	TGFBR2, FBN1
2	vitamin d32	9.1	FBN1, TGFBR2
3	tgf beta132	9.0	TGFBR2, FBN1
4	progesterone32 42 9 18 9	12.6	MYH11, TGFBR2, FBN1
5	estrogen32	8.6	FBN1, TGFBR2, MYH11
6	retinoic acid32 42 18	10.5	MYH11, TGFBR2, FBN1
7	serine32	8.2	TGFBR2, FBN1, MYH11

Biological processes related to thoracic aortic aneurysms and aortic dissections according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:007507	9.1	FBN1, TGFBR2