Aortic Aneurysm, Familial Thoracic 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AAT1 MCID: ART067 MIFTS: 81	Aortic Aneurysm, Familial Thoracic 1 (AAT1) Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 1

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 1:

Name: Aortic Aneurysm, Familial Thoracic 1 ⁵⁷ ¹²

Thoracic Aortic Aneurysm ¹¹ ⁴² ²⁸ ⁵ ¹⁴ ¹⁶ ⁷⁵ ³³

Familial Thoracic Aortic Aneurysm and Aortic Dissection ¹⁹ ⁵⁸ ⁷⁵ ²⁸ ⁵

Annuloaortic Ectasia ⁵⁷ ¹⁹ ⁴² ⁵⁸ ⁷⁵

Familial Aortic Dissection ¹⁹ ⁴² ⁵⁸ ⁷⁵

Congenital Aneurysm of Ascending Aorta ⁴² ²⁸ ⁵

Familial Taad ¹⁹ ⁴² ⁵⁸

Familial Thoracic Aortic Aneurysm and Dissection ¹⁹ ⁴²

Familial Thoracic Aortic Aneurysm ¹⁹ ⁴²

Aortic Aneurysm, Thoracic ⁴³ ⁷¹

Familial Aortic Aneurysm ¹⁹ ⁴²

Familial Non-Syndromic Thoracic Aortic Aneurysm and Aortic Dissection ⁵⁸

Aneurysm, Aortic, Thoracic, Familial, Type 1 ³⁸

Thoracic Aortic Aneurysm Without Rupture ³³

Aortic Aneurysm, Familial Thoracic ⁵⁷

Cystic Medial Necrosis of Aorta ⁵⁸

Dissection of Thoracic Aorta ³³

Aortic Dissection, Familial ⁵⁷

Aneurysm of Thoracic Aorta ³³

Thoracic Arterial Aneurysm ³³

Aneurysm, Thoracic Aortic ⁵⁷

Familial Aortic Aneurysms ⁵

Aortic Aneurysm Thoracic ⁵³

Thorax Arterial Aneurysm ³³

Thoracic Artery Aneurysm ³³

Thoracic Aorta Aneurysm ³³

Intrathoracic Aneurysm ³³

Thorax Aortic Aneurysm ³³

Thoracic Aneurysm ³³

Thorax Aneurysm ³³

Ftaad ⁴²

Aat1 ⁵⁷

Faa1 ⁵⁷

Taad ⁴²

Faa ⁴²

Taa ⁴²

Characteristics:

Inheritance:

Familial Thoracic Aortic Aneurysm and Aortic Dissection: Autosomal dominant ⁵⁸

Age Of Onset:

Familial Aortic Dissection: All ages ⁵⁸

Familial Thoracic Aortic Aneurysm and Aortic Dissection: Adolescent,Adult,Childhood ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the circulatory system

Diseases of arteries, arterioles and capillaries

Aortic aneurysm and dissection

Dissection of aorta [any part]

Thoracic aortic aneurysm, without mention of rupture

ICD11: ³³

Diseases of the circulatory system

Diseases of arteries or arterioles

Aortic aneurysm or dissection

Thoracic aortic aneurysm

Other specified thoracic aortic aneurysm

Thoracic aortic aneurysm with perforation

Thoracic aortic aneurysm with rupture

Thoracic aortic aneurysm without mention of perforation or rupture

Thoracic aortic aneurysm, unspecified

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare systemic and rhumatological diseases

External Ids:

Disease Ontology ¹¹ DOID:14004

OMIM® ⁵⁷ 607086

OMIM Phenotypic Series ⁵⁷ PS607086

MeSH ⁴³ D017545

NCIt ⁴⁹ C27001

SNOMED-CT ⁶⁸ 155421001

ICD10 ³¹ I71.2

ICD10 via Orphanet ³² I71.0 I71.2

UMLS via Orphanet ⁷² C0392775

Orphanet ⁵⁸ ORPHA229 ORPHA91387

MedGen ⁴⁰ C0345050

EFO ¹⁶ EFO_0004282

ICD11 ³³ 1238851281 1383534118 1383534118/other more

UMLS ⁷¹ C0162872

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Summaries for Aortic Aneurysm, Familial Thoracic 1

MedlinePlus Genetics: ⁴² Familial thoracic aortic aneurysm and dissection (familial TAAD) 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). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture).The occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation.Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis.Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.

MalaCards based summary: Aortic Aneurysm, Familial Thoracic 1, also known as thoracic aortic aneurysm, is related to loeys-dietz syndrome 2 and aortic aneurysm. An important gene associated with Aortic Aneurysm, Familial Thoracic 1 is MYH11 (Myosin Heavy Chain 11), and among its related pathways/superpathways are GPCR Pathway and ERK Signaling. The drugs Acetazolamide and Iodine have been mentioned in the context of this disorder. Affiliated tissues include thoracic aorta, smooth muscle and heart, and related phenotypes are cutis marmorata and mucoid extracellular matrix accumulation

Orphanet ⁵⁸ Familial aortic dissection: Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

Familial thoracic aortic aneurysm and aortic dissection: Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

OMIM®: ⁵⁷ Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes. Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome. (607086) (Updated 08-Dec-2022)

GARD: ¹⁹ Familial thoracic aortic aneurysm and aortic dissection (Familial TAAD) is a rare condition that affects the aorta (the large blood vessel that distributes blood from the heart to the rest of the body). In people affected by this condition, the thoracic aorta (the upper part of the aorta, near the heart) may become weakened, stretched and/or enlarged. This can lead to a sudden tear of the inner wall of the aorta that allows blood to flow between the aorta's inner and outer walls (also called a dissection). These aortic abnormalities can be serious as they can decrease blood flow to other parts of the body and/or cause the aorta to rupture. Familial TAAD can be caused by changes in several different genes and is inherited in an autosomal dominant manner.

Disease Ontology: ¹¹ An aortic aneurysm that is located in the thoracic aorta.

Wikipedia ⁷⁵ Annuloaortic ectasia: Annuloaortic ectasia is a dilation of the proximal ascending aorta and aortic annulus. It may cause... more...

Familial aortic dissection: Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch,... more...

Familial thoracic aortic aneurysm and aortic dissection: Familial thoracic aortic aneurysm and aortic dissection is a very rare vascular genetic disorder, it's... more...

Thoracic aortic aneurysm: A thoracic aortic aneurysm is an aortic aneurysm that presents primarily in the... more...

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Related Diseases for Aortic Aneurysm, Familial Thoracic 1

Diseases in the Aortic Aneurysm, Familial Thoracic 1 family:

Aortic Aneurysm, Familial Thoracic 4	Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 6	Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 8	Aortic Aneurysm, Familial Thoracic 9
Aortic Aneurysm, Familial Thoracic 10	Aortic Aneurysm, Familial Thoracic 11
Aortic Aneurysm, Familial Thoracic 12

Diseases related to Aortic Aneurysm, Familial Thoracic 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 444)

#	Related Disease	Score	Top Affiliating Genes
1	loeys-dietz syndrome 2	33.3	TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
2	aortic aneurysm	33.0	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 PRKG1
3	marfan syndrome	32.4	TGFBR2 TGFBR1 TGFB2 LOX FBN2 FBN1
4	aortic valve insufficiency	32.4	TGFBR2 TGFBR1 MYH11 FBN2 FBN1 ACTA2
5	aortic dissection	32.2	TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 PRKG1
6	aortic valve disease 1	32.0	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
7	ehlers-danlos syndrome	32.0	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 PRKG1
8	patent ductus arteriosus 1	31.9	TGFBR2 TGFBR1 TGFB2 SMAD3 NOTCH1 MYLK
9	connective tissue disease	31.6	TGFBR2 SMAD3 PLOD1 NOTCH1 LOX FBN2
10	loeys-dietz syndrome	31.6	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11	loeys-dietz syndrome 3	31.5	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12	loeys-dietz syndrome 4	31.5	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 MYH11
13	mitral valve insufficiency	31.5	NDE1 MYH11 FBN1
14	aortic aneurysm, familial thoracic 4	31.4	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15	ehlers-danlos syndrome, vascular type	31.3	MYLK MYH11 FBN1 COL3A1 ACTA2
16	arterial tortuosity syndrome	31.3	TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
17	scoliosis	31.3	TGFBR2 TGFB2 PLOD1 LOX FBN2 FBN1
18	mitral valve disease	31.3	TGFBR2 TGFBR1 TGFB3 TGFB2 FLNA FBN2
19	dilated cardiomyopathy	31.2	TGFB3 SMAD3 PRKG1 NOTCH1 MYLK MYH11
20	aortic disease	31.2	TGFBR2 TGFBR1 TGFB2 SMAD3 MYH11 FBN1
21	lipoprotein quantitative trait locus	31.2	TGFBR2 TGFB2 SMAD3 NOTCH1 MYH11 FBN1
22	brittle bone disorder	31.1	TGFB3 PLOD1 LOX FBN2 FBN1 COL5A1
23	loeys-dietz syndrome 1	31.1	TGFBR2 TGFBR1 TGFB2 SMAD3 FBN2 FBN1
24	aortic aneurysm, familial abdominal, 1	31.1	TGFBR2 MYH11 LOX FBN1 COL3A1 ACTA2
25	interstitial lung disease 2	31.1	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
26	cleft palate, isolated	31.1	TGFBR2 TGFBR1 TGFB3 TGFB2 FLNA FBN1
27	tracheal stenosis	31.1	TGFB3 FLNA FBN1
28	tetralogy of fallot	31.0	SMAD4 NOTCH1 MYH11 FLNA FBN1
29	subclavian artery aneurysm	31.0	TGFBR2 TGFBR1 FBN1
30	inguinal hernia	31.0	TGFBR2 TGFBR1 FBN1 COL5A1 COL3A1
31	hypertension, essential	30.9	SMAD3 PRKG1 MYLK LOX FBN1 COL3A1
32	contractural arachnodactyly, congenital	30.9	TGFBR2 TGFBR1 FBN2 FBN1
33	megacystis-microcolon-intestinal hypoperistalsis syndrome 1	30.9	MYLK MYH11 FLNA ACTA2
34	microcolon	30.8	MYLK MYH11
35	tricuspid valve insufficiency	30.8	NDE1 MYH11 FBN1
36	collagen disease	30.8	TGFBR2 TGFBR1 PLOD1 FBN1 COL5A1 COL3A1
37	cutis laxa	30.8	LOX FBN1 COL5A1
38	colonic benign neoplasm	30.7	TGFBR2 SMAD4 SMAD3 NOTCH1
39	hereditary hemorrhagic telangiectasia	30.7	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
40	moyamoya disease 1	30.7	MYLK MYH11 ACTA2
41	visceral myopathy 1	30.7	MYLK MYH11
42	telangiectasis	30.6	TGFBR1 SMAD4 FBN1
43	aortic aneurysm, familial thoracic 6	11.8
44	aortic aneurysm, familial thoracic 11	11.8
45	aortic aneurysm, familial thoracic 8	11.7
46	aortic aneurysm, familial thoracic 9	11.7
47	multisystemic smooth muscle dysfunction syndrome	11.7
48	aortic aneurysm, familial thoracic 10	11.7
49	cystic medial necrosis of aorta	11.7
50	aortic aneurysm, familial thoracic 7	11.4

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 1:

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Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 1

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 1:

⁵⁸ ³⁰ (show top 50) (show all 51)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	cutis marmorata ⁵⁸ ³⁰	Occasional (7.5%)	Very frequent (99-80%) Occasional (29-5%)	HP:0000965
2	mucoid extracellular matrix accumulation ³⁰	Hallmark (90%)		HP:0200146
3	hypertension ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000822
4	cardiomegaly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0001640
5	ascending aortic dissection ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0004933
6	descending aortic dissection ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0012499
7	patent ductus arteriosus ⁵⁸ ³⁰	Frequent (33%)	Occasional (29-5%) Frequent (79-30%)	HP:0001643
8	chest pain ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0100749
9	aortic regurgitation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0001659
10	exertional dyspnea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0002875
11	coronary artery atherosclerosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0001677
12	abnormality iris morphology ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000525
13	paroxysmal dyspnea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%) Frequent (79-30%)	HP:0012763
14	aortic root aneurysm ³⁰	Frequent (33%)		HP:0002616
15	abnormal left ventricular function ³⁰	Frequent (33%)		HP:0005162
16	descending thoracic aorta aneurysm ³⁰	Frequent (33%)		HP:0004959
17	scoliosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002650
18	inguinal hernia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000023
19	hypertelorism ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000316
20	pes planus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001763
21	retrognathia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000278
22	high, narrow palate ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002705
23	bicuspid aortic valve ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001647
24	hemoptysis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002105
25	pneumothorax ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002107
26	transient ischemic attack ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002326
27	arachnodactyly ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001166
28	dural ectasia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100775
29	stroke ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%) Occasional (29-5%)	HP:0001297
30	bruising susceptibility ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000978
31	tall stature ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000098
32	subarachnoid hemorrhage ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002138
33	ischemic stroke ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002140
34	prenatal maternal abnormality ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002686
35	dilatation of the cerebral artery ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%) Occasional (29-5%)	HP:0004944
36	hypovolemia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011106
37	carotid artery dilatation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%) Occasional (29-5%)	HP:0012163
38	peripheral arterial stenosis ³⁰	Occasional (7.5%)		HP:0004950
39	abdominal aortic aneurysm ³⁰	Occasional (7.5%)		HP:0005112
40	abnormal sternum morphology ³⁰	Occasional (7.5%)		HP:0000766
41	aortic dissection ⁵⁸		Occasional (29-5%) Occasional (29-5%)
42	abnormality of the sternum ⁵⁸		Occasional (29-5%)
43	dilatation of abdominal aorta ⁵⁸		Occasional (29-5%)
44	occlusive vascular disease ⁵⁸		Occasional (29-5%) Occasional (29-5%)
45	dilatation of ascending aorta ⁵⁸		Occasional (29-5%) Frequent (79-30%)
46	abnormality of connective tissue ⁵⁸		Very frequent (99-80%)
47	descending aortic aneurysm ⁵⁸		Occasional (29-5%) Frequent (79-30%)
48	left ventricular dysfunction ⁵⁸		Frequent (79-30%) Frequent (79-30%)
49	peripheral vascular insufficiency ⁵⁸		Occasional (29-5%) Occasional (29-5%)
50	occlusive arterial disease ⁵⁸		Occasional (29-5%) Occasional (29-5%)

Clinical features from OMIM®:

607086 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

²⁵ (show all 44)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00107-A-1	10.56	TGFBR2
2	Decreased viability	GR00221-A-1	10.56	COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
3	Decreased viability	GR00221-A-2	10.56	COL3A1 PRKG1
4	Decreased viability	GR00221-A-3	10.56	TGFBR2
5	Decreased viability	GR00221-A-4	10.56	COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
6	Decreased viability	GR00249-S	10.56	MYLK TGFBR1 TGFBR2
7	Decreased viability	GR00301-A	10.56	PRKG1
8	Decreased viability	GR00402-S-2	10.56	TGFBR1 TGFBR2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.46	TGFB2 TGFBR1 TGFBR2
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	10.46	TGFB2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-12	10.46	TGFBR2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-132	10.46	TGFBR2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-138	10.46	TGFB2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-14	10.46	TGFB2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	10.46	PRKG1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	10.46	TGFBR1 TGFBR2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-162	10.46	TGFBR2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	10.46	TGFBR2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	10.46	TGFBR1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-186	10.46	TGFBR2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	10.46	TGFBR2
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	10.46	TGFB2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	10.46	TGFBR1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.46	PRKG1
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-215	10.46	TGFB2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-216	10.46	PRKG1
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-22	10.46	TGFBR1
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-37	10.46	TGFBR1
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-39	10.46	TGFBR2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	10.46	TGFB2
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-48	10.46	TGFBR2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-59	10.46	TGFB2
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	10.46	PRKG1 TGFB2 TGFBR1 TGFBR2
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	10.46	PRKG1
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	10.46	TGFBR2
36	Increased shRNA abundance (Z-score > 2)	GR00366-A-72	10.46	TGFB2
37	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	10.46	TGFB2
38	Increased shRNA abundance (Z-score > 2)	GR00366-A-75	10.46	PRKG1
39	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	10.46	TGFBR1
40	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	10.46	PRKG1 TGFBR1
41	Increased shRNA abundance (Z-score > 2)	GR00366-A-88	10.46	TGFBR1
42	no effect	GR00402-S-1	10.17	ACTA2 CBS COL3A1 COL5A1 FBN1 FBN2
43	no effect	GR00402-S-2	10.17	ACTA2 CBS COL3A1 COL5A1 FLNA LOX
44	Reduced mammosphere formation	GR00396-S	9.56	CBS COL3A1 COL5A1 FLNA MYLK NDE1

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Thoracic 1:

⁴⁵ (show all 21)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.47	CBS COL3A1 COL5A1 FBN1 FBN2 FLNA
2	muscle	MP:0005369	10.45	ACTA2 CBS COL3A1 FBN1 FBN2 LOX
3	homeostasis/metabolism	MP:0005376	10.45	CBS COL3A1 FBN1 FBN2 FLNA LOX
4	nervous system	MP:0003631	10.44	CBS FBN1 FBN2 FLNA NDE1 NOTCH1
5	cardiovascular system	MP:0005385	10.43	ACTA2 CBS COL3A1 COL5A1 FBN1 FBN2
6	renal/urinary system	MP:0005367	10.36	CBS FBN1 FBN2 LOX MYH11 MYLK
7	cellular	MP:0005384	10.35	CBS COL3A1 FBN1 FBN2 FLNA MYH11
8	embryo	MP:0005380	10.3	CBS COL5A1 FBN1 LOX NDE1 NOTCH1
9	digestive/alimentary	MP:0005381	10.29	COL3A1 FLNA MYH11 MYLK NOTCH1 PRKG1
10	craniofacial	MP:0005382	10.27	CBS FBN1 FBN2 FLNA LOX NOTCH1
11	normal	MP:0002873	10.25	COL5A1 FLNA MYLK NOTCH1 PRKG1 SMAD4
12	behavior/neurological	MP:0005386	10.25	CBS FBN1 FBN2 FLNA LOX MYLK
13	immune system	MP:0005387	10.25	CBS COL3A1 FBN1 FLNA LOX MYLK
14	liver/biliary system	MP:0005370	10.17	CBS COL3A1 FBN2 FLNA NOTCH1 SMAD3
15	limbs/digits/tail	MP:0005371	10.16	CBS FBN1 FBN2 LOX SMAD3 SMAD4
16	respiratory system	MP:0005388	10.15	CBS COL3A1 FBN1 FBN2 FLNA LOX
17	skeleton	MP:0005390	10.13	CBS FBN1 FBN2 FLNA LOX MYLK
18	hematopoietic system	MP:0005397	10	CBS COL3A1 FBN1 FBN2 FLNA LOX
19	vision/eye	MP:0005391	9.96	ACTA2 CBS COL5A1 FBN2 FLNA NOTCH1
20	mortality/aging	MP:0010768	9.91	CBS COL3A1 COL5A1 FBN1 FBN2 FLNA
21	integument	MP:0010771	9.44	CBS COL3A1 COL5A1 FBN1 FBN2 LOX

Sources

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 1

Drugs for Aortic Aneurysm, Familial Thoracic 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 82)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Acetazolamide

Approved, Vet_approved

Phase 4

59-66-5, 1424-27-7

1986

Iodine

Approved, Investigational

Phase 4

7553-56-2

807

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Sorbitol

Approved, Investigational

Phase 4

69-65-8, 50-70-4

453 6251 5780

Iron

Approved

Phase 4

7439-89-6

29936

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 4

86347-14-0, 113775-47-6

68602 5311068

Tryptophan

Approved, Nutraceutical, Withdrawn

Phase 4

73-22-3

6305

Cadexomer iodine

Experimental

Phase 4

94820-09-4

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Carbonic Anhydrase Inhibitors

Phase 4

Anticonvulsants

Phase 4

diuretics

Phase 4

Antigen-Antibody Complex

Phase 4

Pharmaceutical Solutions

Phase 4

Methylprednisolone Acetate

Phase 4

584547

Epoetin Alfa

Phase 4

Hematinics

Phase 4

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Adrenergic Agents

Phase 4

Neurotransmitter Agents

Phase 4

Hypnotics and Sedatives

Phase 4

Analgesics, Non-Narcotic

Phase 4

Analgesics

Phase 4

Histidine

Investigational, Nutraceutical

Phase 4

71-00-1

6274

Racepinephrine

Approved, Vet_approved

Phase 2, Phase 3

51-43-4, 329-65-7

838 5816

Lidocaine

Approved, Vet_approved

Phase 2, Phase 3

137-58-6

3676

Cefazolin

Approved

Phase 2, Phase 3

25953-19-9

33255

Metronidazole

Approved

Phase 2, Phase 3

443-48-1, 69198-10-3

4173

Natriuretic Peptide, Brain

Phase 3

Anti-Infective Agents

Phase 2, Phase 3

Anesthetics

Phase 2, Phase 3

Antibiotics, Antitubercular

Phase 2, Phase 3

Anti-Bacterial Agents

Phase 2, Phase 3

Epinephryl borate

Phase 2, Phase 3

Ketamine

Approved, Vet_approved

Phase 2

6740-88-1, 1867-66-9

3821

Naloxone

Approved, Vet_approved

Phase 2

465-65-6

5284596

Nicardipine

Approved, Investigational

Phase 2

55985-32-5

4474

Excitatory Amino Acid Antagonists

Phase 2

Anesthetics, Dissociative

Phase 2

Analgesics, Opioid

Phase 2

Annexin A5

Phase 2

Antihypertensive Agents

Phase 2

Hormones

Phase 2

Vasodilator Agents

Phase 2

Calcium, Dietary

Phase 2

Interventional clinical trials:

(show top 50) (show all 154)

#	Name	Status	NCT ID	Phase	Drugs
1	The Effect of Immunonutrition on Outcome and Postoperative Recovery in Patients Undergoing Elective Surgical Repair of a Thoraco (Abdominal) Aneurysm Aorta	Unknown status	NCT00339053	Phase 4	Immunonutrition ( Impact)
2	A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair	Unknown status	NCT01889498	Phase 4	Acetazolamide
3	Comparison of High Iodine Concentration Contrast Material (Isovue 370) vs Standard Protocol (Isovue 300) in Thoracoabdominal Aortic Computed Tomographic Angiography (CTA) for Radiation Dose Reduction	Completed	NCT02291718	Phase 4	Isovue
4	Endovascular Treatment of Thoracic Aortic Aneurysms Using the TALENT Stent Graft System	Completed	NCT00802984	Phase 4
5	Effects of OctaplasLG® on Endothelial Integrity in Patients Undergoing Emergency Surgery for Thoracic Aortic Dissections - a Randomized, Controlled, Single-blinded Investigator-initiated Pilot Trial	Completed	NCT02253082	Phase 4	OctaplasLG®
6	Effect of Intraoperative Dexmedetomidine on Lung Protection Following Thoracic Aorta Surgery With Hypothermic Circulatory Arrest: a Randomized Clinical Trial	Completed	NCT02678728	Phase 4	Dexmedetomidine;normal saline
7	CUstodiol Versus RInger: whaT Is the Best Agent? A Randomized Double Blind Trial.	Completed	NCT02327611	Phase 4	Custodiol;Enriched Ringer's lactate solution
8	Prevention of Acute Kidney Injury by Erythropoietin in Patients Undergoing Thoracic Aorta Surgery With Hypothermic Cardiac Arrest	Completed	NCT01369732	Phase 4	recombinant human erythropoietin;saline
9	A Phase IV Double-blind, Randomised, Parallel Group Comparison of the Efficacy and Safety of Preoperative Intravenous Ferric Carboxymaltose and Placebo in the Treatment of Patients Undergoing Elective or Urgent Cardiac Surgery	Recruiting	NCT03574311	Phase 4	Ferric carboxymaltose
10	Phase 4 Study of Dexmedetomidine for Postoperative Sedation in Patients Undergoing Repair of Thoracoabdominal Aortic Aneurysms	Terminated	NCT00409344	Phase 4	Dexmedetomidine
11	Comparison of a Single Dose Fibrinogen With Placebo and the Number of Blood Transfusions After Ascending Aorta Surgery (FIBTEG Study)	Terminated	NCT02299947	Phase 4	Haemocomplettan P;Placebo
12	Prophylactic Use of Nesiritide (Brain Natriuretic Peptide, BNP) for the Prevention of Acute Renal Failure in Thoracic Aortic Aneurysm Surgery Patients	Unknown status	NCT00110201	Phase 3	Nesiritide
13	A Clinical Study of the TAG Thoracic Endoprosthesis in the Treatment of Thoracic Aortic Diseases for Non-Surgical Candidates Under the Physician Sponsored IDE.	Completed	NCT00757003	Phase 3
14	Evaluation of the Medtronic Vascular Talent Thoracic Stent Graft System for the Treatment of Thoracic Aortic Aneurysms	Completed	NCT00604799	Phase 2, Phase 3
15	Physician-Initiated Trial Investigating the BeGraft Peripheral Plus Stent Graft System as Bridging Stent in BEVAR for Complex Aortic Aneurysms	Recruiting	NCT03982940	Phase 3
16	Physician-Initiated Trial Investigating the BeGraft Peripheral Stent Graft System as Bridging Stent in FEVAR for Complex Aortic Aneurysms	Active, not recruiting	NCT03987035	Phase 3
17	Tumescent Anesthesia Antibiotic Delivery (TAAD) and SubQKath for Prevention of Surgical Site Infection, Thrombosis and Sepsis	Not yet recruiting	NCT03226626	Phase 2, Phase 3	Tumescent Anesthesia and antibiotic delivery (TAAD) plus IVAD
18	A Phase II, Randomized, Placebo-Controlled, Double-Blind (Sponsor Open) Study of GSK1278863, a HIF-Prolyl Hydroxylase Inhibitor, to Reduce Ischemic Events in Patients Undergoing Thoracic Aortic Aneurysm Repair	Completed	NCT01920594	Phase 2	GSK1278863;Placebo
19	Evaluation of the GORE TAG® Thoracic Endoprosthesis - 45 mm for the Primary Treatment of Aneurysms of the Descending Thoracic Aorta	Completed	NCT00608829	Phase 2
20	A Randomized, Double-blind, Placebo-controlled, Study to Identify the Opioid-sparing Effects, and Pain-reduction Potential of Low Dose Ketamine on Patients Undergoing TEVAR Procedures Receiving NCI	Recruiting	NCT04600089	Phase 2	Saline;Ketamine
21	Prognostic of Annexin Imaging in Dissection of the Descending Aorta	Not yet recruiting	NCT03832582	Phase 2	Annexin
22	NICardipine Neuroprotection in AortiC Surgery (NICNACS)	Terminated	NCT00508118	Phase 2	Nicardipine;0.9% saline
23	Comparison of Carbon Dioxide Flush and Saline Flush to Saline Flush Alone in TEVAR and TAVI Procedures to Reduce Cerebral Ischemia	Unknown status	NCT03998631	Phase 1
24	A Phase I Feasibility Study of the TAArget Thoracic Stent Graft for the Treatment of Aneurysms in the Descending Thoracic Aorta	Unknown status	NCT01033214	Phase 1
25	Detection of Hypoxia in Human Thoracic Aorta Using Pimonidazole Hydrochloride	Suspended	NCT03410420	Phase 1	Pimonidazole hydrochloride
26	A Chinese Registry to Determine the Genetic Risk Factors and Serumal Biomarkers for Thoracic Aortic Aneurysm/Dissection	Unknown status	NCT03010514
27	Clinical Study of Thoracic Aortic Aneurysm Exclusion Using the VALIANT System	Unknown status	NCT00549315
28	Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study	Unknown status	NCT02010892
29	Mapping of Aortic Arch Hemodynamics by Biomechanical Analysis and Modeling for Planning Thoracic Endovascular Aortic Repair	Unknown status	NCT03824626
30	Effects of a 6 Months Exercise Program on Blood Pressure Response in Patients With Non-surgical Ascendant Thoracic Aneurysms	Unknown status	NCT04197648
31	Trajectory of Neuroinflammatory Markers in Cerebrospinal Fluid Prior to and After Thoracic Aortic Surgery: the TURBO Study	Unknown status	NCT04523909
32	Registry Of Acute meDical Emergencies in Brazil - ROAD-Brazil	Unknown status	NCT02753023
33	Evaluation of the Safety and Efficacy of Multiple Overlapping Uncovered Stents for Endovascular Pararenal Aortic Aneurysm Repair	Unknown status	NCT01985906
34	Assessment of the Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging - A Monocentric Study	Unknown status	NCT02538822
35	Evaluation of Safety and Efficacy of the Bifurcated Multilayer Flow Modulator (BMFM®).	Unknown status	NCT03024554
36	Evaluation of the Effectiveness of Ischemic Pre-conditioning on the Morbidity and Mortality of Open Surgery of Thoracoabdominal Aortic Aneurysms.	Unknown status	NCT03718312
37	Investigation of the Cerebrospinal Fluid and Further Tissue Samples for Biomarker Indicating Spinal Ischemia and Organ Failure in Patients With Thoracoabdominal Aortic Aneurysm	Unknown status	NCT03093857
38	Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft in Patients With Thoracic Aortic Pathologies	Approved for marketing	NCT01327742
39	Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)	Completed	NCT02256163
40	Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm : Prevalence, Description of the Different Thoracic Aortic Phenotypes by Aortic Volumetric Numerized Imaging and Their Relationship With Epidemiologic, Clinical, Biological and Genetic Factors	Completed	NCT01599533
41	Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft	Completed	NCT00111176
42	Obstructive Sleep Apnoea in Adolescents With Thoracic Aortic Aneurysm	Completed	NCT03400319
43	Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection	Completed	NCT02852603
44	Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study.	Completed	NCT02204774
45	Zenith TX2® TAA Endovascular Graft Post-approval Study	Completed	NCT00813358
46	The Valiant Thoracic Stent Graft System. The Evaluation of the Clinical Performance of the Valiant Thoracic Stent Graft System in the Treatment of Descending Thoracic Aneurysms of Degenerative Etiology in Subjects Who Are Candidates for Endovascular Repair.	Completed	NCT00413231
47	Relationship Between Indexed Aortic Area and Aortic Diameter in Bicuspid Aortic Valve Aortopathy: A Retrospective Cohort Study	Completed	NCT04756778
48	A Pilot Trial to Evaluate the Performance of the TriVascular Thoracic Stent Graft System	Completed	NCT01082172
49	Post Market Surveillance Study Evaluating the Operative Management of Anastomotic Bleeding by Means of an Adjunctive Application of BioFoam Surgical Matrix in Cardiovascular Surgery	Completed	NCT02164201
50	Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes	Completed	NCT02213484

Search NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 1

Cochrane evidence based reviews: aortic aneurysm, thoracic

Sources

Genetic Tests for Aortic Aneurysm, Familial Thoracic 1

Genetic tests related to Aortic Aneurysm, Familial Thoracic 1:

#	Genetic test	Affiliating Genes
1	Familial Thoracic Aortic Aneurysm and Aortic Dissection ²⁸	ACTA2 FBN1 MYH11 MYLK SMAD3 TGFBR1 TGFBR2
2	Thoracic Aortic Aneurysm ²⁸
3	Congenital Aneurysm of Ascending Aorta ²⁸

Sources

Anatomical Context for Aortic Aneurysm, Familial Thoracic 1

Organs/tissues related to Aortic Aneurysm, Familial Thoracic 1:

FMA: Thoracic Aorta

MalaCards : Smooth Muscle, Heart, Skin, Brain, Bone, Spinal Cord, Kidney

Sources

Publications for Aortic Aneurysm, Familial Thoracic 1

Articles related to Aortic Aneurysm, Familial Thoracic 1:

(show top 50) (show all 4706)

#	Title	Authors	PMID	Year
1	Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. ⁵³ ⁶² ⁵	Tran-Fadulu V...Milewicz DM	19542084	2009
2	Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. ⁵³ ⁶² ⁵	Stheneur C...Boileau C	18781618	2008
3	Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. ⁵³ ⁶² ⁵	Matyas G...Steinmann B	16791849	2006
4	Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. ⁵³ ⁶² ⁵	Pannu H...Milewicz DM	16027248	2005
5	Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. ⁵³ ⁶² ⁵	Korkko J...Ala-Kokko L	11826022	2002
6	Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm. ⁶² ⁵	Li Y...Du J	33824467	2021
7	Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. ⁶² ⁵	Aubart M...Boileau C	30087447	2018
8	Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. ⁶² ⁵	Weerakkody R...Aitman TJ	29543232	2018
9	Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. ⁶² ⁵	Hicks KL...Shalhub S	29510914	2018
10	Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing. ⁶² ⁵	Fang M...Fan R	28855619	2017
11	Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity. ⁶² ⁵	Landis BJ...Hinton RB	28550590	2017
12	Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts. ⁶² ⁵	Liu Z...Kamm KE	28652363	2017
13	A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. ⁶² ⁵	Courtois A...Sakalihasan N	28185953	2017
14	Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin. ⁶² ⁵	Lu H...Trybus KM	27551047	2016
15	Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients. ⁶² ⁵	Zhurayev R...Loeys BL	27724990	2016
16	FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. ⁶² ⁵	Sakai LY...De Backer J	27437668	2016
17	Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. ⁶² ⁵	Lee VS...Stitziel NO	27432961	2016
18	Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. ⁶² ⁵	Regalado ES...Milewicz DM	26621581	2016
19	Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. ⁶² ⁵	Schubert JA...Ware SM	26854089	2016
20	Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. ⁶² ⁵	Poninska JK...Ploski R	27146836	2016
21	Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. ⁶² ⁵	Ziganshin BA...Elefteriades JA	26188975	2015
22	First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm. ⁶² ⁵	van de Luijtgaarden KM...Majoor-Krakauer D	26017485	2015
23	Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. ⁶² ⁵	Proost D...Van Laer L	25907466	2015
24	Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. ⁶² ⁵	Guo J...Du J	26272055	2015
25	Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. ⁶² ⁵	Lu H...Trybus KM	26153420	2015
26	Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. ⁶² ⁵	Dong SB...Sun LZ	25110237	2014
27	Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. ⁶² ⁵	Roulez FM...Meire FM	24621862	2014
28	The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). ⁶² ⁵	Lerner-Ellis JP...Joshi VA	24793577	2014
29	Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. ⁶² ⁵	Fitzgerald KK...Pizarro C	24711937	2014
30	ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. ⁶² ⁵	Meuwissen ME...Mancini GM	23613326	2013
31	Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2. ⁶² ⁵	Renard M...De Backer J	23102774	2013
32	Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype. ⁶² ⁵	Wischmeijer A...Loeys BL	23554019	2013
33	Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. ⁶² ⁵	Renard M...De Backer J	21937134	2013
34	High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections. ⁶² ⁵	Kathiravel U...Waldmuller S	23142374	2013
35	Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. ⁶² ⁵	Teekakirikul P...Lin AE	23239472	2013
36	Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. ⁶² ⁵	Wang WJ...Tian XL	22772377	2013
37	TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. ⁶² ⁵	Bee KJ...Hatcher CJ	23099432	2012
38	Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. ⁶² ⁵	Al-Mohaissen M...Beauchesne LM	22946110	2012
39	Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. ⁶² ⁵	Lindsay ME...Loeys BL	22772368	2012
40	Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. ⁶² ⁵	Regalado ES...Milewicz DM	21778426	2011
41	Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. ⁶² ⁵	Hoffjan S...Scheffold T	21248741	2011
42	Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation. ⁶² ⁵	Edelman JJ...Jeremy R	21324918	2011
43	Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. ⁶² ⁵	Bergeron SE...Bartlett HL	21288906	2011
44	Analysis of ACTA2 in European Moyamoya disease patients. ⁶² ⁵	Roder C...Krischek B	20970362	2011
45	TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. ⁶² ⁵	Inamoto S...Milewicz DM	20628007	2010
46	Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. ⁶² ⁵	Horbelt D...Knaus P	21098638	2010
47	The Loeys-Dietz syndrome: an update for the clinician. ⁶² ⁵	Van Hemelrijk C...Loeys B	20838339	2010
48	FBN1 mutations in patients with descending thoracic aortic dissections. ⁵³ ⁵	Brautbar A...Belmont JW	20082464	2010
49	Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). ⁶² ⁵	Morisaki H...Morisaki T	19639654	2009
50	Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. ⁶² ⁵	Guo DC...Milewicz DM	19409525	2009

Sources

Genes for Aortic Aneurysm, Familial Thoracic 1

Genes related to Aortic Aneurysm, Familial Thoracic 1 (34 elite genes):

(show top 50) (show all 178)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MYH11	Myosin Heavy Chain 11	Protein Coding	915.31	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17666408 16444274 21937134 (more) 27418595 27611364 20301299 17956658
2	FBN1	Fibrillin 1	Protein Coding	892.67	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1729284 1929384 2005308 (more) 7611299 7911051 7951214 8004112 8040326 8101042 8136837 8406497 8653794 8880577 8882780 8941093 9241263 9338581 9399842 9401003 9452085 9477945 9536098 9837823 10464652 10486319 10647894 10721679 10756346 10766875 10874320 10930463 11108952 11139245 11170092 11175294 11251996 11391655 11524736 11700157 11748851 11780406 11826022 11875032 11933199 12068374 12161601 12203987 12203992 12402346 12446365 12700307 12938084 14695540 15054843 15062093 15161917 15221638 15241795 15733436 15821637 16199547 16220557 16222657 16342915 16571647 16596670 16756980 16765689 16835936 16905551 16995940 17224687 17253931 17418587 17503327 17568394 17576681 17618372 17627385 17657824 17663468 17679947 17701892 17718856 17850668 17884807 18354149 18435798 18471089 18615205 18925407 19002209 19012347 19089573 19117906 19159394 19161152 19293843 19349279 19353630 19446531 19533785 19618372 19659760 19720936 19763152 19802897 19839986 19863550 19941982 20200614 20307669 20564469 20886638 21034599 21063442 21542060 21594993 21683322 21784848 21895641 21907952 21932315 22001912 22005308 22034023 22216297 22262941 22406018 22539873 22736615 22772377 22913777 22950452 23278365 23653584 23684891 23744319 23794388 24078565 24161884 24199744 24296667 24501682 24613577 24635535 24665001 24698609 24793577 24833718 24982166 25053872 25101912 25613431 25636182 25644172 25652356 25656438 25900864 25907466 25944730 25966184 26133393 26272055 26281765 26333736 26410935 26621581 26684006 26787436 26796135 27087445 27112580 27146836 27175573 27234404 27245183 27353645 27382527 27437668 27611364 27724990 27906200 27914124 27935852 28050602 28098115 28117189 28152038 28539832 28642162 28855619 28941062 28944857 28973303 29357934 29510914 29543232 29620724 29848614 29875124 29907982 30087447 30101859 30341550 30485715 30675029 30739908 30838813 31061752 31098894 31106028 31163209 31211624 31211626 31227806 31279624 31279664 31536524 31730815 31825148 31830381 32679894 33059708 33174221 33200202 33394117 33436942 33495528 33824467 1301946 1438159 2030732 7606779 7896820 7977366 8040255 8188302 8504310 8863159 9016526 9362480 10229672 10425041 10441597 10533071 11059536 11071382 11722462 11829507 16476890 17324963 18087243 19328768 20082464 20699357 21332468 21883168 22438950 23142374 24035709 24339047 24504995 24568996 24610719 25640679 25979247 26040324 26770496 27479044 27558095 27582083 29768367 31727422 34008892 20301299 9723636 10670197
3	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	890.89	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	7664267 9927040 10789724 (more) 15235604 15731757 16027248 16251899 16799921 16885183 16928994 17330129 17418587 17470566 17652900 18084123 18339844 18781618 18827873 18852674 19006214 19159394 19542084 19875893 19996017 20144264 20628007 20829218 20838339 20956634 21098638 21267002 21324918 21484991 22095581 22113417 22259224 22488992 22734312 23103230 23884466 24792536 24983314 25116393 25326637 25644172 26848186 26877057 27100340 27112580 27125181 27139629 27508510 27879313 28225382 29339704 29543232 30056620 30158670 30675401 31098894 32420711 33083483 8246946 19533785 22772377 23099432 24793577 25925954 27146836 28679693 29768367 32152251 32887874 20301299 16791849 18264665 19772952 17935258 18721526
4	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	883.31	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	13129918 15138499 17994018 (more) 19409525 19639654 20734336 20970362 21248741 21288906 21733706 21937134 22302747 22543189 22752479 22790431 22831780 22946110 23099432 23253043 23613326 24243736 24293535 24621862 24793577 24998021 25504618 25644172 25759435 25944730 26034244 26153420 26637293 27176728 27481187 27549731 27551047 28652363 28855619 29907982 30341550 23041370 27611364 29867215 36053285 20301299
5	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	882.64	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	15731757 16596670 16791849 (more) 16799921 16928994 17652900 18455604 18781618 19542084 21267002 21358634 22113417 22414221 23884466 24793577 24931266 25110237 25116393 25521989 25589165 25644172 25944730 26848186 26877057 27611364 28152038 28209770 30675029 31624717 31915033 12499371 16199547 19159394 23672593 24792298 25437144 27879313 20301299
6	SMAD3	SMAD Family Member 3	Protein Coding	882.21	Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	10092624 11224571 15350224 (more) 16828225 21217753 21778426 22167769 23139211 23554019 24711937 24804794 25644172 25877775 25944730 26133393 26854089 28185953 29444731 29543232 29717556 29907982 30661052 30675029 30739908 31085000 31915033 33125268 16199547 28391405 20301299
7	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	782.06	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	1644824 1843280 2094803 (more) 3476488 7737999 9599222 10611753 22772368 23102774 24577266 25644172 29392890 29510914 29907982 30071990 26854089 28550590 31191903 31915033 32307099 22772371
8	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	781.34	Pathogenic/Likely pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	7737999 23824657 24238504 (more) 24798638 25136781 25447171 25835445 26184463 26188975 27848944 29392890 29109152 31898322 32897753
9	LOX	Lysyl Oxidase	Protein Coding	781.25	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	26838787 27432961 30675029
10	SMAD4	SMAD Family Member 4	Protein Coding	780.72	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	9582123 9811934 10441006 (more) 10479724 10764709 10797267 11274206 11583957 15031030 15235019 16152648 16436638 17873119 18178612 18355998 20101697 20685751 22316667 22561520 22810475 22826269 23239472 23399955 24312718 24398790 24424121 24580733 24715504 24841914 25252015 25931195 26171675 26572829 26689913 26900293 28539465 29634562 29707409 30210120 32573726 9214508 10647180 14715079 15350224 23139211 25851949 27595937 30809044
11	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	756.85	Pathogenic ⁵ Causative germline mutation (gain of function) ⁵⁸ DISEASES inferred ¹⁴	23910461 27442293 27879251 (more) 29510914 29907982
12	MYLK	Myosin Light Chain Kinase	Protein Coding	482.22	Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	20301299
13	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	432.14	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	1939638 2243125 2349939 (more) 8098182 8881656 9143932 9399899 10706896 10923041 11359405 12131463 16751282 17251678 18043893 21533953 21637106 22019127 22065459 22492385 24399159 24650746 24922459 25525159 25526469 25644172 25758994 25834947 26017485 27168972 29309923 29346445 29650765 29778910 29940997 30474650 30793832 30919682 31075413 31126764 31600821 31833208 33087929 7665911 7695699 8884076 12488462 17053184 19011090 19444361 19477391 21086191 22713205 23234825 25149929 27011056 27488172 30999998 32483363
14	FBN2	Fibrillin 2	Protein Coding	431.53	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	19006240 22325249 7606779 (more) 8653794 8900230 9054436 11536364 11754102 12511552 24035709 27625873
15	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	431.12	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	15580559 22696272 27959697 (more) 7749409 7929094 8349697 12145749 19370768
16	NOTCH1	Notch Receptor 1	Protein Coding	431.02	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	32748548
17	FLNA	Filamin A	Protein Coding	430.92	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	22076441 22740120 23032111 (more) 6019437 12612583 16538226 21320118
18	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	430.29	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	9220536 10329027 10686424 (more) 21699693 10874315
19	CBS	Cystathionine Beta-Synthase	Protein Coding	428.8	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	1301198 7506602 7581402 (more) 7635485 7762555 8353501 8744616 9361025 9587029 9889017 10215408 10338090 10408774 11343305 11359213 12124992 12552044 12686134 14722927 14739681 15365998 16205833 16307898 16479318 16619244 17319270 18280597 18708589 19232736 19370759 19914636 20066033 20308073 20490928 20506325 20567906 21520339 22069143 22267502 22333527 22612060 22738154 22985361 23733603 23974653 24211323 25087612 25331909 26750749 27243974 27959664 28097321 28421128 28488385 28550590 29352562 30202406 30873612 31301157 34426522 8755636 10364517 12269827 14722619 14972327 15146473 17327360 21030686 21626167 25044645 25197074 25218699 27861796 30050925 32000841 32245022
20	NDE1	NudE Neurodevelopment Protein 1	Protein Coding	428.4	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	16444274 21937134 27418595 (more) 27611364
21	LOC113939944	Sharpr-MPRA Regulatory Region 9539	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵	17657824 17663468 19293843 (more) 26787436 9362480 11700157 16571647 16905551 17701892 19159394 19349279 27906200
22	SRFBP1	Serum Response Factor Binding Protein 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	26838787 27432961 30675029
23	SLC2A10	Solute Carrier Family 2 Member 10	Protein Coding	407.12	Pathogenic ⁵ DISEASES inferred ¹⁴	16550171 17935213 18774132 (more) 28726533 29907982
24	BGN	Biglycan	Protein Coding	405.8	Pathogenic ⁵ DISEASES inferred ¹⁴
25	MED12	Mediator Complex Subunit 12	Protein Coding	403.86	Pathogenic ⁵ DISEASES inferred ¹⁴	24039113 26273451
26	ACTA2-AS1	ACTA2 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	17994018 19409525 19639654 (more) 21248741 24793577 25504618 25644172 25759435 26153420 28652363 28855619 30341550
27	FOXE3	Forkhead Box E3	Protein Coding	380.85	Causative germline mutation ⁵⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	26854927
28	MFAP5	Microfibril Associated Protein 5	Protein Coding	356.78	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	25434006
29	SMAD2	SMAD Family Member 2	Protein Coding	356.44	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	29967133
30	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	353.99	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴	32820247
31	AAT1	Aortic Aneurysm, Familial Thoracic 1	Genetic Locus	59.06	Genetic linkage ⁵⁷ GeneCards inferred via : Gene name (show sections)
32	AAT2	Aortic Aneurysm, Familial Thoracic 2	Genetic Locus	50	MalaCards inferred ³⁹
33	ELN	Elastin	Protein Coding	37.65	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	24932728 15505340
34	MAT2A	Methionine Adenosyltransferase 2A	Protein Coding	30.94	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴	25557781
35	SLC12A5-AS1	SLC12A5 And MMP9 Antisense RNA 1	RNA Gene	156.05	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	29310814
36	HIF1A-AS1	HIF1A Antisense RNA 1	RNA Gene	156.04	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	25550800 26062299 29310814
37	LOC100506472	Uncharacterized LOC100506472	RNA Gene	150	Experimental evidence: Expression ³⁷	29310814
38	SMAD6	SMAD Family Member 6	Protein Coding	31.04	Likely pathogenic ⁵ DISEASES inferred ¹⁴	32748548
39	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	30.74	Likely pathogenic ⁵ DISEASES inferred ¹⁴
40	ROBO4	Roundabout Guidance Receptor 4	Protein Coding	30.35	Likely pathogenic ⁵ DISEASES inferred ¹⁴	32748548
41	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	30.16	Likely pathogenic ⁵ DISEASES inferred ¹⁴
42	GATA4	GATA Binding Protein 4	Protein Coding	29.84	Likely pathogenic ⁵ DISEASES inferred ¹⁴	32748548
43	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	29.8	Likely pathogenic ⁵ DISEASES inferred ¹⁴
44	LINC01389	Long Intergenic Non-Protein Coding RNA 1389	RNA Gene	25	Likely pathogenic ⁵
45	LOC101448202	Uncharacterized LOC101448202	RNA Gene	25	Likely pathogenic ⁵	19370768 22696272 7749409 (more) 7929094 8349697
46	MYLK-AS1	MYLK Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁵
47	MMP2	Matrix Metallopeptidase 2	Protein Coding	11.19	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18388324 15001896
48	MMP1	Matrix Metallopeptidase 1	Protein Coding	8.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19886986
49	EFEMP2	EGF Containing Fibulin Extracellular Matrix Protein 2	Protein Coding	7.57	DISEASES inferred ¹⁴
50	MIR424	MicroRNA 424	RNA Gene	7.44	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Aortic Aneurysm, Familial Thoracic 1

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 1:

⁵ (show top 50) (show all 14106)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FBN1	NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter)	SNV	Pathogenic	432209	rs397515764	GRCh37: 15:48797336-48797336 GRCh38: 15:48505139-48505139
2	FBN1	NM_000138.5(FBN1):c.2113+1G>A	SNV	Pathogenic Pathogenic	582881	rs1566913670	GRCh37: 15:48795983-48795983 GRCh38: 15:48503786-48503786
3	FBN1	NM_000138.5(FBN1):c.1878del (p.Arg627fs)	DEL	Pathogenic	1781820		GRCh37: 15:48797304-48797304 GRCh38: 15:48505107-48505107
4	COL3A1	NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser)	SNV	Pathogenic	101455	rs587779695	GRCh37: 2:189864205-189864205 GRCh38: 2:188999479-188999479
5	FBN1	NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter)	SNV	Pathogenic Pathogenic	163461	rs200309328	GRCh37: 15:48704912-48704912 GRCh38: 15:48412715-48412715
6	FBN1	NM_000138.5(FBN1):c.1A>G (p.Met1Val)	SNV	Pathogenic	180349	rs730880097	GRCh37: 15:48936966-48936966 GRCh38: 15:48644769-48644769
7	FBN1	NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)	SNV	Pathogenic	222615	rs112642323	GRCh37: 15:48704844-48704844 GRCh38: 15:48412647-48412647
8	NOTCH1	NM_017617.5(NOTCH1):c.2012_2013dup (p.Gly672fs)	MICROSAT	Pathogenic	1784431		GRCh37: 9:139409742-139409743 GRCh38: 9:136515290-136515291
9	FBN1	NM_000138.5(FBN1):c.2121T>A (p.Tyr707Ter)	SNV	Pathogenic	1786255		GRCh37: 15:48791228-48791228 GRCh38: 15:48499031-48499031
10	FBN1	NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr)	SNV	Pathogenic	200120	rs112118237	GRCh37: 15:48712928-48712928 GRCh38: 15:48420731-48420731
11	COL3A1	NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)	SNV	Pathogenic	381616	rs1057521106	GRCh37: 2:189855742-189855742 GRCh38: 2:188991016-188991016
12	FBN1	NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)	MICROSAT	Pathogenic	870214	rs2042873946	GRCh37: 15:48704932-48704933 GRCh38: 15:48412735-48412736
13	FBN1	NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs)	DEL	Pathogenic	1762015		GRCh37: 15:48704887-48704888 GRCh38: 15:48412690-48412691
14	FBN1	NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)	SNV	Pathogenic	495572	rs1555399481	GRCh37: 15:48791218-48791218 GRCh38: 15:48499021-48499021
15	TGFB2	NM_003238.6(TGFB2):c.194dup (p.Glu66fs)	DUP	Pathogenic	1075270		GRCh37: 1:218520231-218520232 GRCh38: 1:218346889-218346890
16	FBN1	NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter)	SNV	Pathogenic	1762177		GRCh37: 15:48704844-48704844 GRCh38: 15:48412647-48412647
17	FBN1	NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter)	SNV	Pathogenic Pathogenic	1451276		GRCh37: 15:48707872-48707872 GRCh38: 15:48415675-48415675
18	FBN1	NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr)	SNV	Pathogenic	549097	rs1555399162	GRCh37: 15:48787412-48787412 GRCh38: 15:48495215-48495215
19	SMAD4	NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs)	DUP	Pathogenic	1794042		GRCh37: 18:48575068-48575069 GRCh38: 18:51048698-51048699
20	FBN1	NM_000138.5(FBN1):c.2728+1G>C	SNV	Pathogenic Likely Pathogenic	200174	rs794728322	GRCh37: 15:48786400-48786400 GRCh38: 15:48494203-48494203
21	SMAD4	NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter)	SNV	Pathogenic	1788254		GRCh37: 18:48573639-48573639 GRCh38: 18:51047269-51047269
22	FBN1	NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)	SNV	Pathogenic Pathogenic	406271	rs1060501021	GRCh37: 15:48786407-48786407 GRCh38: 15:48494210-48494210
23	FBN1	NM_000138.5(FBN1):c.2213dup (p.Cys739fs)	DUP	Pathogenic Pathogenic	406340	rs1555399379	GRCh37: 15:48789542-48789543 GRCh38: 15:48497345-48497346
24	FBN1	NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe)	SNV	Pathogenic Pathogenic	963640	rs397515775	GRCh37: 15:48787710-48787710 GRCh38: 15:48495513-48495513
25	SMAD3	NM_005902.4(SMAD3):c.1008del (p.Gly337fs)	DEL	Pathogenic	1791490		GRCh37: 15:67477201-67477201 GRCh38: 15:67184863-67184863
26	SMAD3	NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs)	DUP	Pathogenic	421885	rs1555414236	GRCh37: 15:67479778-67479779 GRCh38: 15:67187440-67187441
27	FBN1	NM_000138.5(FBN1):c.2150_2153delinsGTG (p.Met717fs)	INDEL	Pathogenic	1786736		GRCh37: 15:48791196-48791199 GRCh38: 15:48498999-48499002
28	FBN1	NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)	SNV	Pathogenic	1799412		GRCh37: 15:48782066-48782066 GRCh38: 15:48489869-48489869
29	COL3A1	NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg)	SNV	Pathogenic	17200	rs113485686	GRCh37: 2:189866280-189866280 GRCh38: 2:189001554-189001554
30	COL3A1	NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser)	SNV	Pathogenic	101316	rs587779471	GRCh37: 2:189868816-189868816 GRCh38: 2:189004090-189004090
31	FBN1	NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	SNV	Pathogenic Pathogenic	177648	rs140593	GRCh37: 15:48782093-48782093 GRCh38: 15:48489896-48489896
32	SMAD3	NM_005902.4(SMAD3):c.29dup (p.Ile11fs)	DUP	Pathogenic	1798636		GRCh37: 15:67358516-67358517 GRCh38: 15:67066178-67066179
33	TGFB2	NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)	DEL	Pathogenic	1797425		GRCh37: 1:218520071-218520071 GRCh38: 1:218346729-218346729
34	COL3A1	NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg)	SNV	Pathogenic	1486385		GRCh37: 2:189870130-189870130 GRCh38: 2:189005404-189005404
35	FBN1	NM_000138.5(FBN1):c.2783del (p.Asn928fs)	DEL	Pathogenic	1795962		GRCh37: 15:48784729-48784729 GRCh38: 15:48492532-48492532
36	COL5A1	NM_000093.5(COL5A1):c.2987_2988dup (p.Gly997fs)	DUP	Pathogenic	1798449		GRCh37: 9:137693828-137693829 GRCh38: 9:134801982-134801983
37	SMAD4	NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys)	SNV	Pathogenic	38283	rs377767353	GRCh37: 18:48591976-48591976 GRCh38: 18:51065606-51065606
38	FBN1	NM_000138.5(FBN1):c.2292del (p.Asp765fs)	DEL	Pathogenic Pathogenic	1424684		GRCh37: 15:48789464-48789464 GRCh38: 15:48497267-48497267
39	COL3A1	NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp)	SNV	Pathogenic	101377	rs587779541	GRCh37: 2:189866124-189866124 GRCh38: 2:189001398-189001398
40	COL5A1	NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)	DUP	Pathogenic	213033	rs863223473	GRCh37: 9:137694790-137694791 GRCh38: 9:134802944-134802945
41	SMAD3	NM_005902.4(SMAD3):c.942del (p.Phe314fs)	DEL	Pathogenic	213805	rs863223768	GRCh37: 15:67477131-67477131 GRCh38: 15:67184793-67184793
42	SMAD4	NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)	DEL	Pathogenic	224548	rs869312781	GRCh37: 18:48584805-48584814 GRCh38: 18:51058435-51058444
43	SMAD4	NM_005359.6(SMAD4):c.320del (p.Asn107fs)	DEL	Pathogenic	1728912		GRCh37: 18:48575122-48575122 GRCh38: 18:51048752-51048752
44	FBN1	NM_000138.5(FBN1):c.2293+1G>A	SNV	Pathogenic Pathogenic	406365	rs1060501092	GRCh37: 15:48789462-48789462 GRCh38: 15:48497265-48497265
45	FBN1	NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)	DEL	Pathogenic Pathogenic	419823	rs1064794130	GRCh37: 15:48703274-48703278 GRCh38: 15:48411077-48411081
46	SMAD4	NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter)	SNV	Pathogenic	982455	rs1909619442	GRCh37: 18:48575109-48575109 GRCh38: 18:51048739-51048739
47	FBN1	NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)	SNV	Pathogenic	1763801		GRCh37: 15:48703256-48703256 GRCh38: 15:48411059-48411059
48	SMAD4	NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs)	INSERT	Pathogenic	1764017		GRCh37: 18:48584781-48584782 GRCh38: 18:51058411-51058412
49	COL3A1	NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg)	SNV	Pathogenic	529317	rs1553509391	GRCh37: 2:189870932-189870932 GRCh38: 2:189006206-189006206
50	SMAD4	NM_005359.6(SMAD4):c.917del (p.Asn306fs)	DEL	Pathogenic	1766070		GRCh37: 18:48586247-48586247 GRCh38: 18:51059877-51059877

Copy number variations for Aortic Aneurysm, Familial Thoracic 1 from CNVD:

⁶ (show top 50) (show all 209)

#	CNVD ID	Chromosome	Start	End	Type	Gene Symbol	CNVD Disease
1	28788	1	225256	167524929	Loss	BLZF1	Thoracic aortic aneurysm
2	28789	1	225256	167524929	Loss	CCDC181	Thoracic aortic aneurysm
3	28790	1	225256	167524929	Loss	F5	Thoracic aortic aneurysm
4	28791	1	225256	167524929	Loss	SLC19A2	Thoracic aortic aneurysm
5	33382	1	449830	113015620	Gain	CAPZA1	Thoracic aortic aneurysm
6	33383	1	449830	113015620	Gain	TAFA3	Thoracic aortic aneurysm
7	33384	1	449830	113015620	Gain	PPM1J	Thoracic aortic aneurysm
8	33385	1	449830	113015620	Gain	RHOC	Thoracic aortic aneurysm
9	33386	1	449830	113015620	Gain	SLC16A1	Thoracic aortic aneurysm
10	33723	1	475171	1142494	Gainb	ACAP3	Thoracic aortic aneurysm
11	33724	1	475171	1142494	Gainb	ATAD3B	Thoracic aortic aneurysm
12	33725	1	475171	1142494	Gainb	ATAD3C	Thoracic aortic aneurysm
13	33726	1	475171	1142494	Gainb	AURKAIP1	Thoracic aortic aneurysm
14	33727	1	475171	1142494	Gainb	B3GALT6	Thoracic aortic aneurysm
15	33728	1	475171	1142494	Gainb	CCNL2	Thoracic aortic aneurysm
16	33729	1	475171	1142494	Gainb	CDK11B	Thoracic aortic aneurysm
17	33730	1	475171	1142494	Gainb	CDK11A	Thoracic aortic aneurysm
18	33731	1	475171	1142494	Gainb	INTS11	Thoracic aortic aneurysm
19	33732	1	475171	1142494	Gainb	DVL1	Thoracic aortic aneurysm
20	33733	1	475171	1142494	Gainb	CPTP	Thoracic aortic aneurysm
21	33734	1	475171	1142494	Gainb	MIB2	Thoracic aortic aneurysm
22	33735	1	475171	1142494	Gainb	MMP23B	Thoracic aortic aneurysm
23	33736	1	475171	1142494	Gainb	MRPL20	Thoracic aortic aneurysm
24	33737	1	475171	1142494	Gainb	MXRA8	Thoracic aortic aneurysm
25	33738	1	475171	1142494	Gainb	PUSL1	Thoracic aortic aneurysm
26	33739	1	475171	1142494	Gainb	SCNN1D	Thoracic aortic aneurysm
27	33740	1	475171	1142494	Gainb	SDF4	Thoracic aortic aneurysm
28	33741	1	475171	1142494	Gainb	SSU72	Thoracic aortic aneurysm
29	33742	1	475171	1142494	Gainb	TAS1R3	Thoracic aortic aneurysm
30	33743	1	475171	1142494	Gainb	UBE2J2	Thoracic aortic aneurysm
31	33744	1	475171	1142494	Gainb	VWA1	Thoracic aortic aneurysm
32	37756	1	94386	111664830	Loss	PIFO	Thoracic aortic aneurysm
33	37757	1	94386	111664830	Loss	OVGP1	Thoracic aortic aneurysm
34	38998	10	1073082	68672493	Gain	ATOH7	Thoracic aortic aneurysm
35	38999	10	1073082	68672493	Gain	CTNNA3	Thoracic aortic aneurysm
36	39000	10	1073082	68672493	Gain	DNAJC12	Thoracic aortic aneurysm
37	39001	10	1073082	68672493	Gain	HERC4	Thoracic aortic aneurysm
38	39002	10	1073082	68672493	Gain	MYPN	Thoracic aortic aneurysm
39	39003	10	1073082	68672493	Gain	PBLD	Thoracic aortic aneurysm
40	39004	10	1073082	68672493	Gain	SIRT1	Thoracic aortic aneurysm
41	41305	10	158693	90129215	Loss	RNLS	Thoracic aortic aneurysm
42	45885	10	75066	63577609	Loss	RTKN2	Thoracic aortic aneurysm
43	71598	12	729214	60119327	Gain	TAFA2	Thoracic aortic aneurysm
44	75135	13	154705	79702503	Gain	SPRY2	Thoracic aortic aneurysm
45	85139	14	391832	51343413	Gain	RTRAF	Thoracic aortic aneurysm
46	85140	14	391832	51343413	Gain	GNG2	Thoracic aortic aneurysm
47	85141	14	391832	51343413	Gain	NID2	Thoracic aortic aneurysm
48	86796	14	65485	104688087	Loss	BRF1	Thoracic aortic aneurysm
49	86797	14	65485	104688087	Loss	JAG2	Thoracic aortic aneurysm
50	86798	14	65485	104688087	Loss	NUDT14	Thoracic aortic aneurysm

Sources

Expression for Aortic Aneurysm, Familial Thoracic 1

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 1.

Sources

Pathways for Aortic Aneurysm, Familial Thoracic 1

Pathways related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 67)

#	Super pathways	Score	Top Affiliating Genes
1	GPCR Pathway ⁶⁴ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁴ Estrogen Pathway ⁶⁴ NFAT in Immune Response ⁶⁴ P2Y Receptor Signaling ⁶⁴ Pancreatic Adenocarcinoma ⁶⁴ Paxillin Interactions ⁶⁴ Ras Pathway ⁶⁴	13.7	ACTA2 NOTCH1 SMAD3 SMAD4 TGFB2 TGFB3
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.67	ACTA2 COL3A1 COL5A1 FBN1 FBN2 FLNA
3	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.47	TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
4	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.33	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5	Signal Transduction ⁶⁶	13.27	ACTA2 COL3A1 COL5A1 FBN1 FLNA MYH11
6	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	13.13	ACTA2 COL3A1 COL5A1 FBN1 FBN2 TGFB2
7	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.99	ACTA2 MYH11 PRKG1 TGFB2 TGFB3 TGFBR1
8	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.91	TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
9	Toll-like receptor signaling pathway ⁷⁴ Show member pathways Hepatitis B infection ⁷⁴ Measles virus infection ⁷⁴ Regulation of toll-like receptor signaling pathway ⁷⁴	12.9	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	12.81	COL3A1 COL5A1 FBN1 FBN2 LOX PLOD1
11	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.76	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.58	MYLK MYH11 FLNA ACTA2
13	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.56	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14	Signaling by TGFB family members ⁶⁶ Show member pathways Antagonism of Activin by Follistatin ⁶⁶ Signaling by Activin ⁶⁶ Signaling by TGF-beta Receptor Complex ⁶⁶ TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition) ⁶⁶	12.5	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15	MAPK signaling pathway ⁷⁴	12.47	TGFBR2 TGFBR1 TGFB3 TGFB2 FLNA
16	Cell cycle Regulation of G1/S transition (part 1) ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Role of SCF complex in cell cycle regulation ²² Immune response MIF-JAB1 signaling ²² Mitotic Roles of Polo Like Kinases ⁶⁴	12.46	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17	Bacterial infections in CF airways ²² Show member pathways Altered glycosylation of MUC1 in tumor microenvironment ⁷⁴ IL-1 beta-dependent CFTR expression ²² IL1-mediated signaling events ⁶¹ Immune response Bacterial infections in normal airways ²² Immune response TLR signaling pathways ²² NTHi-Induced Signaling ⁶⁴ Signal transduction through IL1R ⁷⁴	12.42	TGFBR2 TGFBR1 SMAD4 SMAD3
18	Wnt / Hedgehog / Notch ³	12.34	TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
19	Colorectal Cancer Metastasis ⁶⁴	12.29	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
20	Cell cycle ⁷⁴ Show member pathways G1 to S cell cycle control ⁷⁴	12.27	TGFB3 TGFB2 SMAD4 SMAD3
21	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	12.27	TGFB3 TGFB2 FBN1 COL5A1 COL3A1
22	Neuroinflammation and glutamatergic signaling ⁷⁴	12.2	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
23	Epithelial to mesenchymal transition in colorectal cancer ⁷⁴	12.18	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
24	TGF-beta receptor signaling in skeletal dysplasias ⁷⁴ Show member pathways TGF-beta receptor signaling ⁷⁴	12.09	TGFBR2 TGFBR1 SMAD4 SMAD3 FBN1
25	TGF-beta Signaling Pathways ⁶⁵	11.97	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
26	Gastrulation ⁶⁶ Show member pathways Epithelial-Mesenchymal Transition (EMT) during gastrulation ⁶⁶ Formation of axial mesoderm ⁶⁶ Formation of lateral plate mesoderm ⁶⁶ Formation of paraxial mesoderm ⁶⁶ Germ layer formation at gastrulation ⁶⁶	11.95	SMAD4 SMAD3 NOTCH1
27	Cytokine production by Th17 cells in CF (Mouse model) ²² Show member pathways Cytokine production by Th17 cells in CF ²²	11.95	TGFBR2 TGFBR1 SMAD4 SMAD3
28	Senescence and autophagy in cancer ⁷⁴	11.93	SMAD4 SMAD3 COL3A1
29	Th17 Differentiation ⁶⁵ Show member pathways IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types ⁶⁵	11.93	SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2
30	Angiogenesis (CST) ³	11.92	NOTCH1 TGFB2 TGFB3 TGFBR1
31	Elastic fibre formation ⁶⁶ Show member pathways Molecules associated with elastic fibres ⁶⁶	11.92	TGFB3 TGFB2 LOX FBN2 FBN1
32	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.88	TGFB3 TGFB2 ACTA2
33	Overlap between signal transduction pathways contributing to LMNA laminopathies ⁷⁴ Show member pathways Influence of laminopathies on Wnt signaling ⁷⁴	11.87	TGFB2 SMAD3 NOTCH1
34	Burn wound healing ⁷⁴	11.84	TGFB3 TGFB2 SMAD3 FBN1
35	Development_TGF-beta receptor signaling ²²	11.82	TGFBR2 TGFBR1 SMAD4 SMAD3
36	TGF-beta receptor signaling activates SMADs ⁶⁶ Show member pathways Downregulation of TGF-beta receptor signaling ⁶⁶ Loss of Function of SMAD2/3 in Cancer ⁶⁶ Loss of Function of TGFBR1 in Cancer ⁶⁶ Signaling by TGF-beta Receptor Complex in Cancer ⁶⁶ TGF-beta signaling pathway ⁷⁴ TGFBR1 LBD Mutants in Cancer ⁶⁶	11.8	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
37	Head and neck squamous cell carcinoma ⁷⁴	11.76	NOTCH1 SMAD4 TGFBR2
38	Endoderm differentiation ⁷⁴	11.74	SMAD4 SMAD3 NOTCH1
39	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶⁴ Show member pathways TOB in T-Cell Signaling ⁶⁴	11.7	SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2
40	Integrins in angiogenesis ⁶¹	11.64	TGFBR2 COL5A1 COL3A1
41	TGF-beta receptor signaling ⁶¹	11.64	TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
42	Hepatitis C and hepatocellular carcinoma ⁷⁴	11.62	TGFBR1 SMAD4 SMAD3
43	NRP1-triggered signaling pathways in pancreatic cancer ⁷⁴	11.61	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
44	Cell adhesion_Plasmin signaling ²²	11.57	TGFBR2 TGFBR1 TGFB2
45	Cytoskeleton remodeling_RalA regulation pathway ²²	11.56	MYLK MYH11 FLNA ACTA2
46	Interactions between immune cells and microRNAs in tumor microenvironment ⁷⁴	11.56	TGFB2 TGFB3 TGFBR2
47	Smooth Muscle Contraction ⁶⁶	11.53	MYLK MYH11 ACTA2
48	Transcription_P53 signaling pathway ²²	11.49	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
49	Neovascularisation processes ⁷⁴	11.46	TGFBR1 TGFB3 TGFB2 SMAD3
50	Envelope proteins and their potential roles in EDMD physiopathology ⁷⁴	11.43	TGFB3 SMAD4 SMAD3

Sources

GO Terms for Aortic Aneurysm, Familial Thoracic 1

Cellular components related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix	GO:0031012	9.81	LOX FBN2 FBN1 COL5A1 COL3A1
2	heteromeric SMAD protein complex	GO:0071144	9.62	SMAD4 SMAD3
3	SMAD protein complex	GO:0071141	9.56	SMAD4 SMAD3
4	collagen-containing extracellular matrix	GO:0062023	9.47	TGFB3 TGFB2 LOX FBN2 FBN1 COL5A1
5	transforming growth factor beta ligand-receptor complex	GO:0070021	9.26	TGFBR2 TGFBR1

Biological processes related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 56)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of cell population proliferation	GO:0008285	10.42	TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
2	response to hypoxia	GO:0001666	10.33	TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3 PLOD1
3	anatomical structure morphogenesis	GO:0009653	10.31	FBN1 FBN2 SMAD3 SMAD4
4	heart development	GO:0007507	10.3	COL3A1 FBN1 LOX NOTCH1 TGFB2 TGFBR1
5	in utero embryonic development	GO:0001701	10.28	TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3 NOTCH1
6	skeletal system development	GO:0001501	10.25	TGFBR1 TGFB2 SMAD3 FBN1
7	regulation of cell population proliferation	GO:0042127	10.22	NOTCH1 SMAD4 TGFB2 TGFB3 TGFBR2
8	SMAD protein signal transduction	GO:0060395	10.21	TGFB3 TGFB2 SMAD4 SMAD3
9	positive regulation of stress fiber assembly	GO:0051496	10.19	TGFBR1 TGFB3 SMAD3
10	positive regulation of miRNA transcription	GO:1902895	10.19	TGFB2 SMAD4 SMAD3
11	heart morphogenesis	GO:0003007	10.19	TGFB2 FLNA COL5A1
12	lung development	GO:0030324	10.19	TGFBR2 NOTCH1 LOX COL3A1
13	negative regulation of protein catabolic process	GO:0042177	10.18	SMAD4 SMAD3 FLNA
14	BMP signaling pathway	GO:0030509	10.18	TGFB3 TGFB2 SMAD4 SMAD3
15	collagen fibril organization	GO:0030199	10.18	TGFBR1 TGFB2 LOX COL5A1 COL3A1
16	positive regulation of bone mineralization	GO:0030501	10.17	TGFB3 SMAD3 FBN2
17	kidney development	GO:0001822	10.17	TGFBR1 TGFB2 SMAD4 FBN1
18	embryonic cranial skeleton morphogenesis	GO:0048701	10.14	TGFBR2 TGFBR1 SMAD3
19	digestive tract development	GO:0048565	10.14	TGFBR2 TGFB3 COL3A1
20	cell-cell junction organization	GO:0045216	10.13	TGFB3 TGFB2 SMAD3 FLNA
21	outflow tract septum morphogenesis	GO:0003148	10.12	SMAD4 TGFB2 TGFBR2
22	regulation of transforming growth factor beta receptor signaling pathway	GO:0017015	10.11	LOX SMAD3 SMAD4
23	embryonic limb morphogenesis	GO:0030326	10.1	FBN2 NOTCH1 TGFB2
24	activin receptor signaling pathway	GO:0032924	10.1	SMAD3 SMAD4 TGFBR1 TGFBR2
25	positive regulation of SMAD protein signal transduction	GO:0060391	10.09	TGFBR1 TGFB3 SMAD4
26	pathway-restricted SMAD protein phosphorylation	GO:0060389	10.08	TGFB2 TGFBR1 TGFBR2
27	cardiac epithelial to mesenchymal transition	GO:0060317	10.07	TGFBR1 TGFB2 NOTCH1
28	positive regulation of pathway-restricted SMAD protein phosphorylation	GO:0010862	10.07	SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2
29	ventricular trabecula myocardium morphogenesis	GO:0003222	10.06	TGFBR1 TGFB2 NOTCH1
30	epithelial to mesenchymal transition	GO:0001837	10.06	FLNA NOTCH1 SMAD4 TGFB2 TGFBR1
31	blood vessel development	GO:0001568	10.05	TGFBR2 LOX COL5A1 COL3A1
32	endoderm development	GO:0007492	10.04	SMAD4 SMAD3 NOTCH1
33	atrioventricular valve morphogenesis	GO:0003181	10.04	NOTCH1 TGFB2 TGFBR2
34	neuron fate commitment	GO:0048663	10.03	TGFBR1 SMAD4 NOTCH1
35	elastic fiber assembly	GO:0048251	10.03	MYH11 LOX COL3A1
36	membranous septum morphogenesis	GO:0003149	10.02	TGFBR2 TGFB2
37	salivary gland morphogenesis	GO:0007435	10.02	TGFB3 TGFB2
38	SMAD protein complex assembly	GO:0007183	10.01	SMAD4 SMAD3
39	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	GO:1905007	10.01	TGFB2 TGFBR1 TGFBR2
40	transforming growth factor beta receptor signaling pathway	GO:0007179	10	TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
41	endocardial cushion fusion	GO:0003274	9.99	TGFB2 TGFBR2
42	regulation of striated muscle tissue development	GO:0016202	9.99	LOX SMAD3
43	aorta smooth muscle tissue morphogenesis	GO:0060414	9.99	COL3A1 MYLK
44	regulation of transforming growth factor beta2 production	GO:0032909	9.99	TGFB2 SMAD4 SMAD3
45	endocardial cell differentiation	GO:0060956	9.98	NOTCH1 SMAD4
46	sequestering of TGFbeta in extracellular matrix	GO:0035583	9.98	FBN1 FBN2
47	regulation of binding	GO:0051098	9.97	SMAD3 SMAD4
48	glomerular mesangial cell development	GO:0072144	9.97	ACTA2 NOTCH1
49	gastrulation	GO:0007369	9.96	TGFBR2 SMAD4 SMAD3
50	positive regulation of tight junction disassembly	GO:1905075	9.96	TGFB3 TGFBR1

Molecular functions related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:0005201	10.01	FBN2 FBN1 COL5A1 COL3A1
2	transforming growth factor beta binding	GO:0050431	9.85	TGFBR2 TGFBR1 TGFB3
3	I-SMAD binding	GO:0070411	9.8	TGFBR1 SMAD4 SMAD3
4	transforming growth factor beta receptor binding	GO:0005160	9.65	SMAD3 TGFB2 TGFB3
5	type II transforming growth factor beta receptor binding	GO:0005114	9.63	TGFBR1 TGFB3 TGFB2
6	type III transforming growth factor beta receptor binding	GO:0034714	9.35	TGFBR2 TGFB3 TGFB2
7	SMAD binding	GO:0046332	9.23	TGFBR2 TGFBR1 SMAD4 SMAD3 COL3A1