Loeys-dietz Syndrome Type 2a malady

MalaCards: Loeys-dietz Syndrome Type 2a, also known as aortic aneurysm, familial thoracic 5, is related to aortic aneurysm, familial thoracic 4 and myh11-related thoracic aortic aneurysms and aortic dissections. An important gene associated with Loeys-dietz Syndrome Type 2a is TGFBR1 (transforming growth factor, beta receptor 1).

OMIM: 608967

loeys-dietz syndrome type 2a 30 aortic aneurysm, familial thoracic 5 30 loeys-dietz syndrome, type 2a 33

loeys-dietz syndrome 43 lds2a 30 aat5 30

Disease types for loeys-dietz syndrome family:

loeys-dietz syndrome type 1a	loeys-dietz syndrome type 1b
loeys-dietz syndrome type 2a	loeys-dietz syndrome type 2b

Diseases related to loeys-dietz syndrome type 2a by text searches and GeneDecks gene sharing:

(show all 25)

id	Related Disease	Score	Top Affiliating Genes
1	aortic aneurysm, familial thoracic 4	9.3
2	myh11-related thoracic aortic aneurysms and aortic dissections	8.7
3	acta2-related thoracic aortic aneurysms and aortic dissections	8.7
4	aortic aneurysm	8.7
5	aortic aneurysm, familial thoracic 1	8.7
6	aortic aneurysm, familial thoracic 2	8.7
7	alpha 1-antitrypsin deficiency	8.4
8	familial thoracic aortic aneurysm and dissection	7.8
9	thoracic aortic aneurysm	7.8
10	aneurysm disease	6.6
11	emphysema due to aat deficiency	6.1
12	emphysema-cirrhosis, due to aat deficiency	6.1
13	mycobacterium abscessus	6.1
14	primitive neuroectodermal tumor	5.2
15	supratentorial primitive neuroectodermal tumor	5.2
16	thalassemia	5.2
17	thalassemia, delta-	5.2
18	thrombocytopenia, acquired amegakaryocytic	5.2
19	vasculitis	5.2
20	asthma	5.2
21	dementia	5.2
22	multiple sclerosis	5.2
23	mylk-related thoracic aortic aneurysms and aortic dissections	5.2
24	neuroectodermal tumors	5.2
25	obesity	5.2

Clinical features from OMIM: 608967

Approved drugs:

Drug clinical trials:

Genes related to loeys-dietz syndrome type 2a according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TGFBR1	transforming growth factor, beta receptor 1	11.1	Disorders