AAT1
MCID: ART067
MIFTS: 81

Aortic Aneurysm, Familial Thoracic 1 (AAT1)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases
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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:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases


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...

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:



Diseases related to Aortic Aneurysm, Familial Thoracic 1

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

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
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5, 1424-27-7 1986
2
Iodine Approved, Investigational Phase 4 7553-56-2 807
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
8
Sorbitol Approved, Investigational Phase 4 69-65-8, 50-70-4 453 6251 5780
9
Iron Approved Phase 4 7439-89-6 29936
10
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
11
Tryptophan Approved, Nutraceutical, Withdrawn Phase 4 73-22-3 6305
12
Cadexomer iodine Experimental Phase 4 94820-09-4
13
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
14 Carbonic Anhydrase Inhibitors Phase 4
15 Anticonvulsants Phase 4
16 diuretics Phase 4
17 Antigen-Antibody Complex Phase 4
18 Pharmaceutical Solutions Phase 4
19
Methylprednisolone Acetate Phase 4 584547
20
Epoetin Alfa Phase 4
21 Hematinics Phase 4
22 Adrenergic alpha-Agonists Phase 4
23 Adrenergic Agonists Phase 4
24 Adrenergic Agents Phase 4
25 Neurotransmitter Agents Phase 4
26 Hypnotics and Sedatives Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Analgesics Phase 4
29
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
30
Racepinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4, 329-65-7 838 5816
31
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
32
Cefazolin Approved Phase 2, Phase 3 25953-19-9 33255
33
Metronidazole Approved Phase 2, Phase 3 443-48-1, 69198-10-3 4173
34 Natriuretic Peptide, Brain Phase 3
35 Anti-Infective Agents Phase 2, Phase 3
36 Anesthetics Phase 2, Phase 3
37 Antibiotics, Antitubercular Phase 2, Phase 3
38 Anti-Bacterial Agents Phase 2, Phase 3
39 Epinephryl borate Phase 2, Phase 3
40
Ketamine Approved, Vet_approved Phase 2 6740-88-1, 1867-66-9 3821
41
Naloxone Approved, Vet_approved Phase 2 465-65-6 5284596
42
Nicardipine Approved, Investigational Phase 2 55985-32-5 4474
43 Excitatory Amino Acid Antagonists Phase 2
44 Anesthetics, Dissociative Phase 2
45 Analgesics, Opioid Phase 2
46 Annexin A5 Phase 2
47 Antihypertensive Agents Phase 2
48 Hormones Phase 2
49 Vasodilator Agents Phase 2
50 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

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

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

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
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
18781618 2008
3
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 53 62 5
16791849 2006
4
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 53 62 5
16027248 2005
5
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 53 62 5
11826022 2002
6
Evaluating the monogenic contribution and genotype-phenotype correlation in patients with isolated thoracic aortic aneurysm. 62 5
33824467 2021
7
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability. 62 5
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
29543232 2018
9
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. 62 5
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
28855619 2017
11
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity. 62 5
28550590 2017
12
Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts. 62 5
28652363 2017
13
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. 62 5
28185953 2017
14
Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin. 62 5
27551047 2016
15
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients. 62 5
27724990 2016
16
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 62 5
27437668 2016
17
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 62 5
27432961 2016
18
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. 62 5
26621581 2016
19
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. 62 5
26854089 2016
20
Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. 62 5
27146836 2016
21
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. 62 5
26188975 2015
22
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm. 62 5
26017485 2015
23
Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 62 5
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
26272055 2015
25
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 62 5
26153420 2015
26
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. 62 5
25110237 2014
27
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 62 5
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
24793577 2014
29
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. 62 5
24711937 2014
30
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. 62 5
23613326 2013
31
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2. 62 5
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
23554019 2013
33
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 62 5
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
23142374 2013
35
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. 62 5
23239472 2013
36
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 62 5
22772377 2013
37
TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. 62 5
23099432 2012
38
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 62 5
22946110 2012
39
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. 62 5
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
21778426 2011
41
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 62 5
21248741 2011
42
Familial aortic aneurysm and dissection due to transforming growth factor-beta receptor 2 mutation. 62 5
21324918 2011
43
Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. 62 5
21288906 2011
44
Analysis of ACTA2 in European Moyamoya disease patients. 62 5
20970362 2011
45
TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. 62 5
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
21098638 2010
47
The Loeys-Dietz syndrome: an update for the clinician. 62 5
20838339 2010
48
FBN1 mutations in patients with descending thoracic aortic dissections. 53 5
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
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
19409525 2009

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

Expression for Aortic Aneurysm, Familial Thoracic 1

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

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
Show member pathways
13.7 ACTA2 NOTCH1 SMAD3 SMAD4 TGFB2 TGFB3
2
Show member pathways
13.67 ACTA2 COL3A1 COL5A1 FBN1 FBN2 FLNA
3
Show member pathways
13.47 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
4
Show member pathways
13.33 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5 13.27 ACTA2 COL3A1 COL5A1 FBN1 FLNA MYH11
6
Show member pathways
13.13 ACTA2 COL3A1 COL5A1 FBN1 FBN2 TGFB2
7
Show member pathways
12.99 ACTA2 MYH11 PRKG1 TGFB2 TGFB3 TGFBR1
8
Show member pathways
12.91 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
9
Show member pathways
12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10
Show member pathways
12.81 COL3A1 COL5A1 FBN1 FBN2 LOX PLOD1
11
Show member pathways
12.76 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12
Show member pathways
12.58 MYLK MYH11 FLNA ACTA2
13
Show member pathways
12.56 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Show member pathways
12.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15 12.47 TGFBR2 TGFBR1 TGFB3 TGFB2 FLNA
16
Show member pathways
12.46 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17
Show member pathways
12.42 TGFBR2 TGFBR1 SMAD4 SMAD3
18 12.34 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
19 12.29 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
20
Show member pathways
12.27 TGFB3 TGFB2 SMAD4 SMAD3
21
Show member pathways
12.27 TGFB3 TGFB2 FBN1 COL5A1 COL3A1
22 12.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
23 12.18 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
24
Show member pathways
12.09 TGFBR2 TGFBR1 SMAD4 SMAD3 FBN1
25 11.97 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
26
Show member pathways
11.95 SMAD4 SMAD3 NOTCH1
27
Show member pathways
11.95 TGFBR2 TGFBR1 SMAD4 SMAD3
28 11.93 SMAD4 SMAD3 COL3A1
29
Show member pathways
11.93 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2
30 11.92 NOTCH1 TGFB2 TGFB3 TGFBR1
31
Show member pathways
11.92 TGFB3 TGFB2 LOX FBN2 FBN1
32 11.88 TGFB3 TGFB2 ACTA2
33
Show member pathways
11.87 TGFB2 SMAD3 NOTCH1
34 11.84 TGFB3 TGFB2 SMAD3 FBN1
35 11.82 TGFBR2 TGFBR1 SMAD4 SMAD3
36
Show member pathways
11.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
37 11.76 NOTCH1 SMAD4 TGFBR2
38 11.74 SMAD4 SMAD3 NOTCH1
39
Show member pathways
11.7 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2
40 11.64 TGFBR2 COL5A1 COL3A1
41 11.64 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
42 11.62 TGFBR1 SMAD4 SMAD3
43 11.61 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
44 11.57 TGFBR2 TGFBR1 TGFB2
45 11.56 MYLK MYH11 FLNA ACTA2
46 11.56 TGFB2 TGFB3 TGFBR2
47 11.53 MYLK MYH11 ACTA2
48 11.49 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
49 11.46 TGFBR1 TGFB3 TGFB2 SMAD3
50 11.43 TGFB3 SMAD4 SMAD3

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

Sources for Aortic Aneurysm, Familial Thoracic 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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