FAA
MCID: FML089
MIFTS: 67

Familial Thoracic Aortic Aneurysm and Dissection (FAA)

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

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

MalaCards integrated aliases for Familial Thoracic Aortic Aneurysm and Dissection:

Name: Familial Thoracic Aortic Aneurysm and Dissection 52 25 36
Congenital Aneurysm of Ascending Aorta 25 29 6
Familial Thoracic Aortic Aneurysm 52 25 6
Familial Taad 52 25 58
Familial Thoracic Aortic Aneurysm and Aortic Dissection 52 58
Familial Aortic Dissection 52 25
Familial Aortic Aneurysm 52 25
Annuloaortic Ectasia 52 25
Familial Aortic Aneurysms 6
Aortic Aneurysm, Thoracic 71
Thoracic Aortic Aneurysm 25
Ftaad 25
Taad 25
Faa 25
Taa 25

Characteristics:

Orphanet epidemiological data:

58

Classifications:

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


Summaries for Familial Thoracic Aortic Aneurysm and Dissection

Genetics Home Reference : 25 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 : Familial Thoracic Aortic Aneurysm and Dissection, also known as congenital aneurysm of ascending aorta, is related to aortic aneurysm, familial thoracic 6 and patent ductus arteriosus 1. An important gene associated with Familial Thoracic Aortic Aneurysm and Dissection is SMAD3 (SMAD Family Member 3), and among its related pathways/superpathways are Vascular smooth muscle contraction and MAPK signaling pathway. The drugs Acetazolamide and Iodine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skin, and related phenotypes are cutis marmorata and mucoid extracellular matrix accumulation

NIH Rare Diseases : 52 Familial thoracic aortic aneurysm and 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 life-threatening as they can decrease blood flow to other parts of the body and/or cause the aorta to rupture. The onset of the condition varies significantly from person to person, even within the same family. Familial TAAD can be caused by changes (mutations ) in several different genes and is inherited in an autosomal dominant manner. Treatment is generally based on the signs and symptoms present in each person and may include medications to reduce stress on the aorta and surgery to repair aortic abnormalities. Surveillance is generally recommended for at-risk relatives.

KEGG : 36 Thoracic aortic aneurysms leading to acute aortic dissections (TAAD) are the major diseases that affect the thoracic aorta. While majority of the cases are sporadic, more than 20% are inherited as a single gene disorder. Familial TAAD is diagnosed based on the presence of dilatation and/or dissection of the thoracic aorta, absence of clinical features of Marfan syndrome, Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial TAAD.

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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

(show top 50) (show all 356)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 32.7 TGFBR1 SLC2A10 MYLK MYH11 ACTA2
2 patent ductus arteriosus 1 30.7 TGFBR2 TGFBR1 SLC2A10 NOTCH1 MYLK MYH11
3 aortic valve insufficiency 30.4 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
4 aortic aneurysm, familial thoracic 2 30.2 SLC2A10 FBN1 COL3A1 ACTA2
5 hereditary hemorrhagic telangiectasia 29.7 TGFBR2 TGFBR1 TGFB2
6 aortic valve disease 2 29.7 NOTCH1 FBN1 ELN
7 inguinal hernia 29.7 LOX FBN1 ELN
8 telangiectasis 29.6 TGFBR1 FBN1 ELN
9 brittle bone disorder 29.6 FBN1 ELN COL3A1 BGN
10 scoliosis 29.3 TGFBR2 TGFB2 LOX FBN1 ELN
11 moyamoya disease 1 29.3 TGFBR2 MYLK MYH11 ELN ACTA2
12 connective tissue disease 29.1 TGFBR2 SMAD3 LOX FBN1 ELN COL3A1
13 ehlers-danlos syndrome 28.9 TGFBR1 SLC2A10 MYH11 FBN1 ELN COL3A1
14 intracranial aneurysm 28.9 TGFBR2 TGFBR1 TGFB2 LOX ELN COL3A1
15 mitral valve disease 28.9 TGFB3 TGFB2 FBN1 ELN
16 pulmonary fibrosis, idiopathic 28.8 TGFBR1 SMAD3 LOX ELN COL3A1 ACTA2
17 loeys-dietz syndrome 4 28.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
18 loeys-dietz syndrome 3 28.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
19 marfan syndrome 28.0 TGFBR2 TGFBR1 TGFB2 NOTCH1 MYLK MYH11
20 arterial tortuosity syndrome 27.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
21 loeys-dietz syndrome 1 27.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
22 loeys-dietz syndrome 26.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
23 heritable thoracic aortic disease 25.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 PRKG1
24 aortic valve disease 1 25.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
25 aneurysm 25.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
26 aortic aneurysm, familial thoracic 1 25.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
27 aortic aneurysm 24.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
28 aortic disease 24.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 PRKG1
29 rare disease with thoracic aortic aneurysm and aortic dissection 12.6
30 aortic aneurysm, familial thoracic 4 12.0
31 aortic aneurysm, familial thoracic 10 11.8
32 meester-loeys syndrome 11.8
33 aortic aneurysm, familial thoracic 11 11.8
34 multisystemic smooth muscle dysfunction syndrome 11.8
35 cystic medial necrosis of aorta 11.5
36 paraplegia 10.9
37 fanconi anemia, complementation group a 10.6
38 deficiency anemia 10.6
39 thalassemia 10.6
40 dysphagia 10.6
41 aortitis 10.6
42 back pain 10.5
43 autosomal recessive disease 10.5
44 cardiac arrest 10.5
45 mitral valve insufficiency 10.5
46 congestive heart failure 10.5
47 respiratory failure 10.5
48 pectus excavatum 10.5
49 subclavian artery aneurysm 10.5 TGFBR2 FBN1
50 transient hypogammaglobulinemia of infancy 10.4 TGFBR2 TGFBR1

Graphical network of the top 20 diseases related to Familial Thoracic Aortic Aneurysm and Dissection:



Diseases related to Familial Thoracic Aortic Aneurysm and Dissection

Symptoms & Phenotypes for Familial Thoracic Aortic Aneurysm and Dissection

Human phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

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

GenomeRNAi Phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

26 (show all 43)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.26 TGFBR2
2 Decreased viability GR00221-A-1 10.26 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 10.26 COL3A1 PRKG1
4 Decreased viability GR00221-A-3 10.26 TGFBR2
5 Decreased viability GR00221-A-4 10.26 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
6 Decreased viability GR00301-A 10.26 PRKG1
7 Decreased viability GR00402-S-2 10.26 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.97 TGFB2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.97 TGFB2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.97 TGFBR2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.97 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.97 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.97 TGFBR2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.97 TGFB2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.97 TGFB2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.97 TGFBR1 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.97 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.97 TGFBR2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.97 TGFBR2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.97 TGFBR1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.97 TGFBR1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.97 PRKG1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.97 TGFBR2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.97 TGFBR2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.97 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.97 TGFBR1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.97 PRKG1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.97 PRKG1 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.97 TGFB2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.97 TGFB2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.97 TGFBR1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.97 TGFBR1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.97 TGFBR2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.97 TGFB2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.97 TGFB2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.97 PRKG1 TGFB2 TGFBR1 TGFBR2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.97 PRKG1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.97 TGFBR2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.97 TGFB2 TGFBR2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.97 TGFBR1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.97 TGFBR2
42 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.97 PRKG1 TGFBR1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.97 PRKG1 TGFBR1

MGI Mouse Phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 ACTA2 COL3A1 FBN1 LOX MFAP5 MYH11
2 cellular MP:0005384 10.25 BGN COL3A1 FBN1 MYH11 NOTCH1 PRKG1
3 homeostasis/metabolism MP:0005376 10.25 BGN COL3A1 FBN1 LOX MYH11 MYLK
4 immune system MP:0005387 10.25 BGN COL3A1 FBN1 MAT2A MFAP5 MYLK
5 hematopoietic system MP:0005397 10.2 COL3A1 FBN1 MFAP5 NOTCH1 PRKG1 SLC2A10
6 digestive/alimentary MP:0005381 10.18 COL3A1 MYH11 MYLK NOTCH1 PRKG1 SMAD3
7 mortality/aging MP:0010768 10.17 BGN COL3A1 FBN1 LOX MAT2A MYH11
8 craniofacial MP:0005382 10.04 BGN FBN1 NOTCH1 SMAD3 TGFB2 TGFB3
9 muscle MP:0005369 10.03 ACTA2 BGN COL3A1 FBN1 LOX MYH11
10 integument MP:0010771 10.02 BGN COL3A1 FBN1 LOX MYH11 NOTCH1
11 renal/urinary system MP:0005367 9.81 FBN1 MYH11 MYLK NOTCH1 PRKG1 SLC2A10
12 respiratory system MP:0005388 9.65 COL3A1 FBN1 LOX MYH11 NOTCH1 SLC2A10
13 skeleton MP:0005390 9.36 BGN FBN1 LOX MFAP5 MYLK NOTCH1

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Iodine Approved, Investigational Phase 4 7553-56-2 807
3
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Natriuretic Agents Phase 4
13 Anticonvulsants Phase 4
14 Carbonic Anhydrase Inhibitors Phase 4
15 diuretics Phase 4
16 cadexomer iodine Phase 4
17 Pharmaceutical Solutions Phase 4
18 Methylprednisolone Acetate Phase 4
19 Antigen-Antibody Complex Phase 4
20 Hematinics Phase 4
21 Ferric Compounds Phase 4
22 Neurotransmitter Agents Phase 4
23 Central Nervous System Depressants Phase 4
24 Hypnotics and Sedatives Phase 4
25 Adrenergic alpha-2 Receptor Agonists Phase 4
26 Adrenergic Agonists Phase 4
27 Analgesics, Non-Narcotic Phase 4
28 Analgesics Phase 4
29 Adrenergic Agents Phase 4
30
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
31
Cefazolin Approved Phase 2, Phase 3 25953-19-9 33255 656510
32
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
33
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
34
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
35
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
36
Losartan Approved Phase 3 114798-26-4 3961
37
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
38 Natriuretic Peptide, Brain Phase 3
39 Anesthetics Phase 2, Phase 3
40 Anti-Infective Agents Phase 2, Phase 3
41 Antibiotics, Antitubercular Phase 2, Phase 3
42 Epinephryl borate Phase 2, Phase 3
43 Anti-Bacterial Agents Phase 2, Phase 3
44 Antitubercular Agents Phase 2, Phase 3
45 Anti-Arrhythmia Agents Phase 3
46 Angiotensin Receptor Antagonists Phase 3
47 Angiotensinogen Phase 3
48 Angiotensin II Type 1 Receptor Blockers Phase 3
49 Giapreza Phase 3
50 Antihypertensive Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 124)
# 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 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
6 CUstodiol Versus RInger: whaT Is the Best Agent? A Randomized Double Blind Trial. Completed NCT02327611 Phase 4 Custodiol;Enriched Ringer's lactate solution
7 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®
8 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
9 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
10 Phase 4 Study of Dexmedetomidine for Postoperative Sedation in Patients Undergoing Repair of Thoracoabdominal Aortic Aneurysms Terminated NCT00409344 Phase 4 Dexmedetomidine
11 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
12 Evaluation of the Medtronic Vascular Talent Thoracic Stent Graft System for the Treatment of Thoracic Aortic Aneurysms Completed NCT00604799 Phase 2, Phase 3
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 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
15 Multicenter, Randomised, Double Blind Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
16 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
17 Evaluation of the GORE TAG® Thoracic Endoprosthesis - 45 mm for the Primary Treatment of Aneurysms of the Descending Thoracic Aorta Completed NCT00608829 Phase 2
18 Pharmacokinetics of AP214 Acetate in Patients Undergoing Cardiac Surgery Completed NCT00903604 Phase 2 AP214;Placebo
19 Safety, Tolerability and Pharmacodynamics of AP214 Acetate in Patients Undergoing Cardiac Surgery Terminated NCT00628264 Phase 2 AP214;Placebo
20 NICardipine Neuroprotection in AortiC Surgery (NICNACS) Terminated NCT00508118 Phase 2 Nicardipine;0.9% saline
21 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
22 A Pilot Trial to Evaluate the Performance of the TriVascular Thoracic Stent Graft System Completed NCT01082172 Phase 1
23 Detection of Hypoxia in Human Thoracic Aorta Using Pimonidazole Hydrochloride Recruiting NCT03410420 Phase 1 Pimonidazole hydrochloride
24 Comparison of Carbon Dioxide Flush and Saline Flush to Saline Flush Alone in TEVAR and TAVI Procedures to Reduce Cerebral Ischemia Not yet recruiting NCT03998631 Phase 1
25 A Chinese Registry to Determine the Genetic Risk Factors and Serumal Biomarkers for Thoracic Aortic Aneurysm/Dissection Unknown status NCT03010514
26 Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study Unknown status NCT02010892
27 Clinical Study of Thoracic Aortic Aneurysm Exclusion Using the VALIANT System Unknown status NCT00549315
28 Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study. Unknown status NCT02018835
29 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
30 A Clinical Study Evaluating Use of the Thoracic EXCLUDER Endoprosthesis in the Treatment of Descending Thoracic Aortic Diseases Unknown status NCT00546312
31 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
32 Zenith® TX2® Low Profile TAA Endovascular Graft Clinical Study Approved for marketing NCT02471781
33 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA) Completed NCT02256163
34 Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176
35 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
36 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
37 A Clinical Evaluation of the GORE TAG Thoracic Endoprosthesis in the Primary Treatment of Descending Thoracic Aortic Aneurysms Completed NCT00590759
38 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
39 Neurophysiological Intraoperative Monitoring During Aortic Surgery Completed NCT02644681
40 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
41 An Evaluation of the GORE Conformable TAG® Thoracic Endoprosthesis for the Primary Treatment of Aneurysm of the Descending Thoracic Aortic Completed NCT00874250
42 Platelet Activity in Vascular Surgery Completed NCT01897103
43 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft in Patients With Thoracic Aortic Pathologies Completed NCT00435942
44 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
45 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
46 A Prospective Study on Point-of-Care Focused Cardiac Ultrasound in Assessing for Thoracic Aortic Dimensions, Dilation, and Aneurysm in Correlation With CT Angiogram in Suspected Cases of Pathology Completed NCT01671618
47 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
48 RE-GENERATION: An EU Clinical Study to Evaluate the Safety and Performance of the Relay Pro and Relay Non Bare Stent (NBS) Pro Stent-graft Devices in Patients With Thoracic Aortic Pathologies Completed NCT03207568
49 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
50 Development of Ultra-Low Dose CT Based Screening for Aortic Aneurysms Completed NCT03479164

Search NIH Clinical Center for Familial Thoracic Aortic Aneurysm and Dissection

Genetic Tests for Familial Thoracic Aortic Aneurysm and Dissection

Genetic tests related to Familial Thoracic Aortic Aneurysm and Dissection:

# Genetic test Affiliating Genes
1 Congenital Aneurysm of Ascending Aorta 29

Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

MalaCards organs/tissues related to Familial Thoracic Aortic Aneurysm and Dissection:

40
Heart, Brain, Skin, Bone, Smooth Muscle, Liver, Lung

Publications for Familial Thoracic Aortic Aneurysm and Dissection

Articles related to Familial Thoracic Aortic Aneurysm and Dissection:

(show all 33)
# Title Authors PMID Year
1
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
2
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
3
Heritable Thoracic Aortic Disease Overview 6
20301299 2003
4
Open Thoracoabdominal Aortic Repair in Patients with Heritable Aortic Disease in the GenTAC Registry. 61
31568749 2019
5
Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels. 61
31577255 2019
6
Spontaneous perforation of small intestine followed by rupture of the cystic artery: the natural history of Vascular Ehlers-Danlos Syndrome. 61
30863729 2019
7
A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality. 61
31587008 2019
8
Outcomes of Early-Onset Acute Type A Aortic Dissection - Influence of Etiologic Factors. 61
30584230 2019
9
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. 61
29510914 2018
10
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity. 61
28550590 2017
11
Genetic Disorders of the Thoracic Aorta and Indications for Surgery. 61
28683903 2017
12
Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection. 61
27986426 2017
13
The Genetics of Aortopathies in Clinical Cardiology. 61
28607545 2017
14
Aortic rupture after thoracic endovascular repair in a patient with familial thoracic aortic aneurysm and dissections type 6 (FTAAD6). 61
27094429 2016
15
Genetics, Pregnancy, and Aortic Degeneration. 61
26381327 2016
16
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6). 61
26220220 2015
17
Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm. 61
28509973 2015
18
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. 61
25110237 2014
19
Familial thoracic aortic aneurysm with dissection presenting as flash pulmonary edema in a 26-year-old man. 61
25104961 2014
20
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. 61
24711937 2014
21
Marfan's syndrome and other aortopathies in pregnancy. 61
27708702 2013
22
GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection. 61
23444191 2013
23
Diagnostic yield in adults screened at the Marfan outpatient clinic using the 1996 and 2010 Ghent nosologies. 61
22461464 2012
24
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 61
21778426 2011
25
Augmentation index and the evolution of aortic disease in marfan-like syndromes. 61
20395939 2010
26
Patent arterial duct. 61
19591690 2009
27
Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations. 61
19336958 2009
28
Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. 61
18954631 2008
29
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. 61
17956658 2007
30
Mapping of familial thoracic aortic aneurysm/dissection with patent ductus arteriosus to 16p12.2-p13.13. 61
15998682 2005
31
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. 61
14722581 2004
32
Natural history of thoracic aortic aneurysms: indications for surgery, and surgical versus nonsurgical risks. 61
12440685 2002
33
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. 61
9723636 1998

Variations for Familial Thoracic Aortic Aneurysm and Dissection

ClinVar genetic disease variations for Familial Thoracic Aortic Aneurysm and Dissection:

6 (show top 50) (show all 2806) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXE3 NM_012186.3(FOXE3):c.457G>C (p.Asp153His)SNV Likely pathogenic,risk factor 375651 rs367943249 1:47882444-47882444 1:47416772-47416772
2 FOXE3 NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp)SNV Likely pathogenic,risk factor 375652 rs749960549 1:47882397-47882397 1:47416725-47416725
3 TGFBR2 NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys)SNV Pathogenic 408444 rs104893807 3:30715688-30715688 3:30674196-30674196
4 TGFBR1 NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)SNV Pathogenic 408560 rs1060502040 9:101894916-101894916 9:99132634-99132634
5 FBN1 NM_000138.4(FBN1):c.7881dup (p.Ser2628fs)duplication Pathogenic 406338 rs1060501067 15:48707903-48707903 15:48415706-48415706
6 FBN1 NM_000138.4(FBN1):c.7331A>G (p.Asp2444Gly)SNV Pathogenic 406366 rs1060501093 15:48717688-48717688 15:48425491-48425491
7 FBN1 NM_000138.4(FBN1):c.2213dup (p.Cys739fs)duplication Pathogenic 406340 rs1555399379 15:48789543-48789543 15:48497346-48497346
8 FBN1 NM_000138.4(FBN1):c.2089C>T (p.Gln697Ter)SNV Pathogenic 406355 rs1060501082 15:48796008-48796008 15:48503811-48503811
9 SMAD3 NM_005902.4(SMAD3):c.246_247dup (p.Leu83fs)duplication Pathogenic 405565 rs1555412070 15:67457272-67457273 15:67164934-67164935
10 SMAD3 NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter)SNV Pathogenic 405537 rs753486471 15:67473717-67473717 15:67181379-67181379
11 SMAD3 NM_005902.4(SMAD3):c.903_904dup (p.Glu302fs)duplication Pathogenic 405566 rs1060500770 15:67477096-67477097 15:67184758-67184759
12 FBN1 NM_000138.4(FBN1):c.5627G>A (p.Cys1876Tyr)SNV Pathogenic 406296 rs112728248 15:48741009-48741009 15:48448812-48448812
13 FBN1 NM_000138.4(FBN1):c.2305T>C (p.Cys769Arg)SNV Pathogenic 406272 rs1060501022 15:48788411-48788411 15:48496214-48496214
14 FBN1 NM_000138.4(FBN1):c.7421del (p.Tyr2474fs)deletion Pathogenic 406324 rs1060501060 15:48717598-48717598 15:48425401-48425401
15 FBN1 NM_000138.4(FBN1):c.6784C>T (p.Gln2262Ter)SNV Pathogenic 406274 rs1060501023 15:48722955-48722955 15:48430758-48430758
16 SMAD3 NM_005902.4(SMAD3):c.427_431del (p.His143fs)deletion Pathogenic 405569 rs1060500773 15:67457617-67457621 15:67165279-67165283
17 FBN1 NM_000138.4(FBN1):c.2722T>C (p.Cys908Arg)SNV Pathogenic 406271 rs1060501021 15:48786407-48786407 15:48494210-48494210
18 FBN1 NM_000138.4(FBN1):c.6616+1G>ASNV Pathogenic 419595 rs1064793980 15:48726790-48726790 15:48434593-48434593
19 FBN1 NM_000138.4(FBN1):c.2269del (p.Asp757fs)deletion Pathogenic 419089 rs1064793636 15:48789487-48789487 15:48497290-48497290
20 FBN1 NM_000138.4(FBN1):c.917del (p.Asn306fs)deletion Pathogenic 419091 rs1064793637 15:48818398-48818398 15:48526201-48526201
21 SMAD3 NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter)SNV Pathogenic 420088 rs757106110 15:67479795-67479795 15:67187457-67187457
22 FBN1 NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter)SNV Pathogenic 439701 rs1555394195 15:48713798-48713798 15:48421601-48421601
23 TGFBR2 NM_003242.6(TGFBR2):c.1397-1G>ASNV Pathogenic 477538 rs1553631693 3:30729875-30729875 3:30688383-30688383
24 TGFBR1 NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter)SNV Pathogenic 477559 rs1057524497 9:101900299-101900299 9:99138017-99138017
25 TGFBR1 NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)SNV Pathogenic 477562 rs1554700672 9:101900347-101900347 9:99138065-99138065
26 FBN1 NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter)SNV Pathogenic 457257 rs1555394567 15:48719856-48719856 15:48427659-48427659
27 FBN1 NC_000015.9:g.(?_48703167)_(48789608_?)deldeletion Pathogenic 457150 15:48703167-48789608 15:48410970-48497411
28 FBN1 NC_000015.9:g.(?_48707358)_(48760751_?)deldeletion Pathogenic 457153 15:48707358-48760751 15:48415161-48468554
29 FBN1 NM_000138.4(FBN1):c.6616+1G>CSNV Pathogenic 457247 rs1064793980 15:48726790-48726790 15:48434593-48434593
30 FBN1 NM_000138.4(FBN1):c.4691G>A (p.Cys1564Tyr)SNV Pathogenic 457221 rs267606800 15:48760191-48760191 15:48467994-48467994
31 FBN1 NM_000138.4(FBN1):c.4582+1G>TSNV Pathogenic 457217 rs1555397195 15:48760608-48760608 15:48468411-48468411
32 FBN1 NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs)indel Pathogenic 457226 rs1555397007 15:48757886-48757886 15:48465689-48465689
33 FBN1 NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs)indel Pathogenic 457176 rs1555399095 15:48786437-48786447 15:48494240-48494250
34 FBN1 NM_000138.4(FBN1):c.336dup (p.Ser113fs)duplication Pathogenic 457193 rs1555405528 15:48902935-48902935 15:48610738-48610738
35 SMAD3 NM_005902.4(SMAD3):c.246dup (p.Leu83fs)duplication Pathogenic 477571 rs1555412069 15:67457272-67457272 15:67164934-67164934
36 FBN1 NC_000015.9:g.(?_48703167)_(48830025_?)deldeletion Pathogenic 457151 15:48410970-48537828
37 FBN1 NC_000015.9:g.(?_48703167)_(48936986_?)deldeletion Pathogenic 457152 15:48410970-48644789
38 FBN1 deletion Pathogenic 457154 15:48503767-48510189
39 FBN1 deletion Pathogenic 457155 15:48508562-48516382
40 FBN1 deletion Pathogenic 457156 15:48508562-48644789
41 FBN1 NM_000138.4(FBN1):c.7605C>G (p.Cys2535Trp)SNV Pathogenic 457264 rs113544411 15:48713849-48713849 15:48421652-48421652
42 FBN1 NM_000138.4(FBN1):c.6645del (p.Leu2216fs)deletion Pathogenic 457249 rs1555394928 15:48725157-48725157 15:48432960-48432960
43 FBN1 NM_000138.4(FBN1):c.6391T>A (p.Cys2131Ser)SNV Pathogenic 457245 rs1555395210 15:48729263-48729263 15:48437066-48437066
44 FBN1 NM_000138.4(FBN1):c.6048_6056del (p.Cys2017_Glu2019del)deletion Pathogenic 457239 rs1555395483 15:48734025-48734033 15:48441828-48441836
45 FBN1 NM_000138.4(FBN1):c.4293C>G (p.Cys1431Trp)SNV Pathogenic 457207 rs112375043 15:48764791-48764791 15:48472594-48472594
46 FBN1 NM_000138.4(FBN1):c.4293C>A (p.Cys1431Ter)SNV Pathogenic 457201 rs112375043 15:48764791-48764791 15:48472594-48472594
47 FBN1 NM_000138.4(FBN1):c.3962dup (p.Asp1322fs)duplication Pathogenic 457200 rs1555398137 15:48773854-48773854 15:48481657-48481657
48 FBN1 NM_000138.4(FBN1):c.3098del (p.Lys1033fs)deletion Pathogenic 457188 rs1555398683 15:48780675-48780675 15:48488478-48488478
49 FBN1 NM_000138.4(FBN1):c.2626T>C (p.Cys876Arg)SNV Pathogenic 457173 rs1555399158 15:48787371-48787371 15:48495174-48495174
50 FBN1 NM_000138.4(FBN1):c.1287dup (p.Pro430fs)duplication Pathogenic 457159 rs1555400410 15:48808420-48808420 15:48516223-48516223

Expression for Familial Thoracic Aortic Aneurysm and Dissection

Search GEO for disease gene expression data for Familial Thoracic Aortic Aneurysm and Dissection.

Pathways for Familial Thoracic Aortic Aneurysm and Dissection

Pathways related to Familial Thoracic Aortic Aneurysm and Dissection according to KEGG:

36
# Name Kegg Source Accession
1 Vascular smooth muscle contraction hsa04270
2 MAPK signaling pathway hsa04010
3 Calcium signaling pathway hsa04020
4 Cytokine-cytokine receptor interaction hsa04060
5 TGF-beta signaling pathway hsa04350
6 Focal adhesion hsa04510
7 Adherens junction hsa04520
8 Tight junction hsa04530
9 Regulation of actin cytoskeleton hsa04810

Pathways related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 NOTCH1
2
Show member pathways
13.33 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
3
Show member pathways
13.13 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
4
Show member pathways
13.07 TGFBR1 TGFB3 TGFB2 FBN1 ELN COL3A1
5
Show member pathways
12.93 TGFBR2 TGFBR1 TGFB3 TGFB2 PRKG1 MYH11
6
Show member pathways
12.88 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
7 12.86 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 NOTCH1
8
Show member pathways
12.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
9
Show member pathways
12.78 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 NOTCH1
10
Show member pathways
12.61 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 NOTCH1
11
Show member pathways
12.58 TGFB3 TGFB2 MFAP5 LOX FBN1 ELN
12
Show member pathways
12.49 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
13
Show member pathways
12.45 PRKG1 MYLK MYH11 ACTA2
14 12.36 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
15 12.26 TGFBR1 TGFB3 TGFB2 SMAD3 NOTCH1
16
Show member pathways
12.22 TGFBR2 TGFBR1 TGFB2 SMAD3
17 12.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
18 12.18 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
19 12.15 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
20 12.11 TGFBR1 SMAD3 MYLK ACTA2
21
Show member pathways
12.08 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
22
Show member pathways
12.05 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
23 11.89 TGFB3 TGFB2 COL3A1
24 11.88 TGFBR1 TGFB3 TGFB2 NOTCH1
25
Show member pathways
11.84 TGFBR2 TGFBR1 SMAD3
26 11.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
27
Show member pathways
11.8 TGFBR2 TGFBR1 SMAD3 LOX
28 11.73 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 COL3A1
29 11.72 TGFBR2 TGFBR1 SMAD3
30 11.71 TGFBR2 TGFBR1 SMAD3
31
Show member pathways
11.71 TGFBR2 TGFBR1 SMAD3
32 11.62 TGFBR2 TGFBR1 SMAD3
33 11.61 TGFB3 TGFB2 BGN
34 11.61 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 ACTA2
35 11.61 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 FBN1
36
Show member pathways
11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
37 11.57 TGFBR2 TGFBR1 TGFB3 SMAD3
38 11.54 TGFBR2 TGFBR1 TGFB2
39 11.48 TGFBR2 TGFBR1 TGFB3 TGFB2
40 11.4 MYLK MYH11 ACTA2
41
Show member pathways
11.25 TGFBR2 TGFBR1 TGFB3
42 11.23 TGFBR2 TGFBR1 TGFB3
43 11.13 TGFBR2 TGFBR1 SMAD3 FBN1
44 11.12 TGFBR2 TGFBR1 SMAD3
45 11.04 TGFB3 TGFB2 MYLK FBN1 ELN COL3A1
46
Show member pathways
10.96 TGFB3 TGFB2 MFAP5 LOX FBN1 ELN
47 10.83 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3

GO Terms for Familial Thoracic Aortic Aneurysm and Dissection

Cellular components related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 TGFB3 TGFB2 NOTCH1 MFAP5 LOX FBN1
2 receptor complex GO:0043235 9.46 TGFBR2 TGFBR1 SMAD3 NOTCH1
3 extracellular matrix GO:0031012 9.43 MFAP5 LOX FBN1 ELN COL3A1 BGN
4 microfibril GO:0001527 9.32 MFAP5 FBN1
5 collagen-containing extracellular matrix GO:0062023 9.17 TGFB3 TGFB2 MFAP5 FBN1 ELN COL3A1

Biological processes related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 10.13 TGFBR2 TGFBR1 TGFB2 PRKG1 MYLK
2 positive regulation of transcription, DNA-templated GO:0045893 10.13 TGFBR1 TGFB3 SMAD3 NOTCH1 ACTA2
3 positive regulation of cell proliferation GO:0008284 10.11 TGFBR2 TGFBR1 TGFB3 TGFB2 NOTCH1
4 negative regulation of cell proliferation GO:0008285 10.08 TGFBR2 TGFB3 TGFB2 SMAD3 NOTCH1
5 positive regulation of cell migration GO:0030335 10.01 TGFBR1 SMAD3 NOTCH1 MYLK
6 regulation of gene expression GO:0010468 10.01 TGFBR2 TGFBR1 NOTCH1 LOX
7 regulation of cell proliferation GO:0042127 9.98 TGFBR2 TGFB3 TGFB2 NOTCH1
8 in utero embryonic development GO:0001701 9.97 TGFBR2 TGFBR1 TGFB3 SMAD3 NOTCH1
9 response to hypoxia GO:0001666 9.96 TGFBR2 TGFB3 TGFB2 SMAD3
10 kidney development GO:0001822 9.91 TGFBR1 TGFB2 FBN1
11 cell cycle arrest GO:0007050 9.91 TGFBR1 TGFB2 SMAD3 NOTCH1
12 muscle contraction GO:0006936 9.9 MYLK MYH11 ACTA2
13 lung development GO:0030324 9.9 TGFBR2 NOTCH1 LOX
14 heart looping GO:0001947 9.86 TGFBR2 SMAD3 NOTCH1
15 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 TGFBR1 SMAD3 FBN1
16 SMAD protein signal transduction GO:0060395 9.85 TGFB3 TGFB2 SMAD3
17 cell development GO:0048468 9.85 TGFB3 TGFB2 FOXE3
18 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.85 TGFBR2 TGFBR1 TGFB3 SMAD3
19 skeletal system development GO:0001501 9.85 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
20 extracellular matrix organization GO:0030198 9.85 MFAP5 LOX FBN1 ELN COL3A1 BGN
21 outflow tract morphogenesis GO:0003151 9.84 TGFBR2 NOTCH1 ELN
22 positive regulation of stress fiber assembly GO:0051496 9.84 TGFBR1 TGFB3 SMAD3
23 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.82 TGFBR1 TGFB3 TGFB2
24 lens development in camera-type eye GO:0002088 9.81 TGFBR2 TGFBR1 FOXE3
25 heart development GO:0007507 9.8 TGFBR2 TGFBR1 TGFB2 NOTCH1 LOX FBN1
26 epithelial to mesenchymal transition GO:0001837 9.79 TGFBR1 TGFB2 NOTCH1
27 embryonic cranial skeleton morphogenesis GO:0048701 9.77 TGFBR2 TGFBR1 SMAD3
28 digestive tract development GO:0048565 9.77 TGFBR2 TGFB3 COL3A1
29 cell-cell junction organization GO:0045216 9.75 TGFB3 TGFB2 SMAD3
30 smooth muscle contraction GO:0006939 9.73 MYLK MYH11
31 endocardial cushion morphogenesis GO:0003203 9.73 TGFB2 NOTCH1
32 regulation of epithelial cell proliferation GO:0050678 9.73 SMAD3 NOTCH1
33 activin receptor signaling pathway GO:0032924 9.73 TGFBR2 TGFBR1 SMAD3
34 collagen fibril organization GO:0030199 9.73 TGFBR1 TGFB2 LOX COL3A1
35 negative regulation of immune response GO:0050777 9.72 TGFB2 COL3A1
36 pulmonary valve morphogenesis GO:0003184 9.72 TGFB2 NOTCH1
37 supramolecular fiber organization GO:0097435 9.72 MFAP5 COL3A1
38 cardiac muscle cell proliferation GO:0060038 9.72 TGFB2 NOTCH1
39 positive regulation of SMAD protein signal transduction GO:0060391 9.71 TGFBR1 TGFB3
40 response to cholesterol GO:0070723 9.71 TGFBR2 TGFBR1
41 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 TGFBR1 TGFB2 NOTCH1
42 ventricular septum morphogenesis GO:0060412 9.71 TGFBR2 TGFBR1 TGFB2 NOTCH1
43 somatic stem cell division GO:0048103 9.7 TGFB2 NOTCH1
44 salivary gland morphogenesis GO:0007435 9.7 TGFB3 TGFB2
45 cardiac left ventricle morphogenesis GO:0003214 9.7 TGFBR2 NOTCH1
46 membranous septum morphogenesis GO:0003149 9.7 TGFBR2 TGFB2
47 secondary palate development GO:0062009 9.7 TGFBR2 TGFB3 TGFB2
48 coronary artery morphogenesis GO:0060982 9.69 TGFBR1 NOTCH1
49 elastic fiber assembly GO:0048251 9.69 MYH11 LOX
50 cell growth GO:0016049 9.69 TGFB3 TGFB2

Molecular functions related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.05 TGFBR2 TGFBR1 PRKG1 MYLK MYH11 MAT2A
2 transforming growth factor beta receptor binding GO:0005160 9.54 TGFB3 TGFB2 SMAD3
3 activin binding GO:0048185 9.49 TGFBR2 TGFBR1
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.48 TGFBR2 TGFBR1
5 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBN1 ELN
6 SMAD binding GO:0046332 9.46 TGFBR2 TGFBR1 SMAD3 COL3A1
7 type I transforming growth factor beta receptor binding GO:0034713 9.43 TGFBR2 TGFB3
8 transforming growth factor beta binding GO:0050431 9.43 TGFBR2 TGFBR1 TGFB3
9 transforming growth factor beta-activated receptor activity GO:0005024 9.4 TGFBR2 TGFBR1
10 extracellular matrix structural constituent GO:0005201 9.35 MFAP5 FBN1 ELN COL3A1 BGN
11 type III transforming growth factor beta receptor binding GO:0034714 9.32 TGFB3 TGFB2
12 type II transforming growth factor beta receptor binding GO:0005114 8.8 TGFBR1 TGFB3 TGFB2

Sources for Familial Thoracic Aortic Aneurysm and Dissection

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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