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FAA
MCID: FML364
MIFTS: 66

Familial Thoracic Aortic Aneurysm and Aortic Dissection (FAA)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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MalaCards integrated aliases for Familial Thoracic Aortic Aneurysm and Aortic Dissection:

Name: Familial Thoracic Aortic Aneurysm and Aortic Dissection 52 58 29 6
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 Aortic Dissection 52 25
Familial Aortic Aneurysm 52 25
Annuloaortic Ectasia 52 25
Familial Aortic Aneurysms 6
Thoracic Aortic Aneurysm 25
Ftaad 25
Taad 25
Faa 25
Taa 25

Characteristics:

Orphanet epidemiological data:

58
familial thoracic aortic aneurysm and aortic dissection
Inheritance: Autosomal dominant;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases Bone diseases Skin diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases


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Summaries for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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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 Aortic Dissection, also known as familial thoracic aortic aneurysm and dissection, is related to aortic aneurysm, familial thoracic 6 and patent ductus arteriosus 1. An important gene associated with Familial Thoracic Aortic Aneurysm and Aortic Dissection is SMAD3 (SMAD Family Member 3), and among its related pathways/superpathways are Vascular smooth muscle contraction and MAPK signaling pathway. The drugs Iodine and cadexomer 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 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 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.

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Related Diseases for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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Diseases in the Familial Thoracic Aortic Aneurysm and Aortic Dissection family:

Rare Disease with Thoracic Aortic Aneurysm and Aortic Dissection

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

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 33.2 TGFBR1 SLC2A10 MYLK MYH11 ACTA2
2 patent ductus arteriosus 1 32.2 TGFBR2 TGFBR1 NOTCH1 MYH11 FBN1 ELN
3 aortic valve insufficiency 31.1 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
4 loeys-dietz syndrome 1 30.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
5 ehlers-danlos syndrome 30.3 TGFBR1 SLC2A10 MYH11 FBN1 ELN COL3A1
6 craniosynostosis 30.2 TGFBR2 TGFBR1 SMAD3 FBN1
7 aortic aneurysm, familial thoracic 2 30.2 SLC2A10 FBN1 COL3A1 ACTA2
8 aortic valve disease 2 30.1 NOTCH1 FBN1 ELN
9 moyamoya disease 1 30.1 MYLK MYH11 ELN ACTA2
10 hereditary hemorrhagic telangiectasia 30.0 TGFBR2 TGFBR1 TGFB2 SMAD4
11 brittle bone disorder 29.9 FBN1 ELN COL3A1 BGN
12 mitral valve disease 29.9 TGFB3 TGFB2 FBN1 ELN
13 tetralogy of fallot 29.8 SMAD4 NOTCH1 MYH11 FBN1 ELN
14 loeys-dietz syndrome 4 29.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
15 scoliosis 29.7 TGFBR2 TGFB2 LOX FBN1 ELN
16 telangiectasis 29.7 TGFBR1 SMAD4 FBN1 ELN
17 inguinal hernia 29.7 LOX FBN1 ELN
18 marfan syndrome 29.5 TGFBR2 TGFBR1 TGFB2 NOTCH1 MYLK MYH11
19 intracranial aneurysm 29.4 TGFBR2 TGFBR1 TGFB2 LOX ELN COL3A1
20 arterial tortuosity syndrome 29.0 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
21 aortic aneurysm, familial thoracic 1 29.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
22 loeys-dietz syndrome 3 28.9 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
23 pulmonary fibrosis, idiopathic 28.3 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 LOX
24 aortic dissection 28.3 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
25 aortic valve disease 1 27.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
26 connective tissue disease 27.1 TGFBR2 TGFBR1 TGFB2 SMAD3 PRKG1 NOTCH1
27 loeys-dietz syndrome 26.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
28 heritable thoracic aortic disease 26.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
29 aortic aneurysm 25.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
30 aneurysm 25.1 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
31 aortic disease 24.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
32 rare disease with thoracic aortic aneurysm and aortic dissection 12.6
33 multisystemic smooth muscle dysfunction syndrome 12.2
34 aortic aneurysm, familial thoracic 4 12.0
35 loeys-dietz syndrome 2 11.8
36 aortic aneurysm, familial thoracic 10 11.8
37 meester-loeys syndrome 11.8
38 aortic aneurysm, familial thoracic 11 11.8
39 cystic medial necrosis of aorta 11.5
40 paraplegia 10.9
41 vascular disease 10.7
42 fanconi anemia, complementation group a 10.6
43 thalassemia 10.6
44 dysphagia 10.6
45 aortitis 10.6
46 back pain 10.5
47 cardiac arrest 10.5
48 mitral valve insufficiency 10.5
49 congestive heart failure 10.5
50 autosomal recessive disease 10.5

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



Diseases related to Familial Thoracic Aortic Aneurysm and Aortic Dissection
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Symptoms & Phenotypes for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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Human phenotypes related to Familial Thoracic Aortic Aneurysm and Aortic 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 cardiomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001640
4 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
5 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
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 coronary artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0001677
11 abnormality iris morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000525
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 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
15 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
16 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
18 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
19 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
20 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
21 transient ischemic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0002326
22 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
23 dural ectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100775
24 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002105
25 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
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 pneumothorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0002107
31 ischemic stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0002140
32 prenatal maternal abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002686
33 dilatation of the cerebral artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004944
34 hypovolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011106
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 occlusive vascular disease 58 Occasional (29-5%)
44 dilatation of ascending aorta 58 Occasional (29-5%)
45 abnormality of connective tissue 58 Very frequent (99-80%)
46 descending aortic aneurysm 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 Aortic Dissection according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.17 TGFBR2
2 Decreased viability GR00221-A-1 10.17 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 10.17 COL3A1 PRKG1
4 Decreased viability GR00221-A-3 10.17 TGFBR2
5 Decreased viability GR00221-A-4 10.17 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
6 Decreased viability GR00249-S 10.17 ACTA2 MYLK SMAD4 TGFBR1 TGFBR2
7 Decreased viability GR00301-A 10.17 PRKG1
8 Decreased viability GR00386-A-1 10.17 ELN MAT2A NOTCH1 SLC2A10 TGFB2
9 Decreased viability GR00402-S-2 10.17 ELN FBN1 MFAP5 TGFBR1 TGFBR2

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

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 ACTA2 COL3A1 FBN1 LOX MFAP5 MYH11
2 immune system MP:0005387 10.31 BGN COL3A1 FBN1 LOX MAT2A MFAP5
3 cellular MP:0005384 10.3 BGN COL3A1 FBN1 MYH11 NOTCH1 PRKG1
4 homeostasis/metabolism MP:0005376 10.28 BGN COL3A1 FBN1 LOX MYH11 MYLK
5 hematopoietic system MP:0005397 10.27 COL3A1 FBN1 LOX MFAP5 NOTCH1 PRKG1
6 growth/size/body region MP:0005378 10.26 BGN COL3A1 FBN1 MYH11 MYLK NOTCH1
7 digestive/alimentary MP:0005381 10.24 COL3A1 MYH11 MYLK NOTCH1 PRKG1 SMAD3
8 mortality/aging MP:0010768 10.2 BGN COL3A1 FBN1 LOX MAT2A MYH11
9 craniofacial MP:0005382 10.11 BGN FBN1 NOTCH1 SMAD3 SMAD4 TGFB2
10 integument MP:0010771 10.07 BGN COL3A1 FBN1 LOX MYH11 NOTCH1
11 muscle MP:0005369 10.07 ACTA2 BGN COL3A1 FBN1 LOX MYH11
12 renal/urinary system MP:0005367 9.85 FBN1 MYH11 MYLK NOTCH1 PRKG1 SLC2A10
13 respiratory system MP:0005388 9.65 COL3A1 FBN1 LOX MYH11 NOTCH1 SLC2A10
14 skeleton MP:0005390 9.4 BGN FBN1 LOX MFAP5 MYLK NOTCH1
Sources

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 4 7553-56-2 807
2 cadexomer iodine Phase 4
3
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
4
Cefazolin Approved Phase 2, Phase 3 25953-19-9 656510 33255
5
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
6
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
7
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
8 Natriuretic Peptide, Brain Phase 3
9 Anti-Bacterial Agents Phase 2, Phase 3
10 Epinephryl borate Phase 2, Phase 3
11 Anesthetics Phase 2, Phase 3
12 Anti-Infective Agents Phase 2, Phase 3
13 Antibiotics, Antitubercular Phase 2, Phase 3
14 Pharmaceutical Solutions Phase 2
15 sodium fluoride Approved 7681-49-4
16
Heparin Approved, Investigational 9005-49-6 46507594 772
17
tannic acid Approved 1401-55-4
18
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
19
Nicotine Approved 54-11-5 942 89594
20 Liver Extracts
21 Fluorides
22 Anti-Infective Agents, Local
23 Protective Agents
24 Listerine
25 calcium heparin

Interventional clinical trials:

(show top 50) (show all 55)
# 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 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
3 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
4 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
5 Pharmacokinetics of AP214 Acetate in Patients Undergoing Cardiac Surgery Completed NCT00903604 Phase 2 AP214;Placebo
6 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
7 Safety, Tolerability and Pharmacodynamics of AP214 Acetate in Patients Undergoing Cardiac Surgery Terminated NCT00628264 Phase 2 AP214;Placebo
8 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
9 A Pilot Trial to Evaluate the Performance of the TriVascular Thoracic Stent Graft System Completed NCT01082172 Phase 1
10 Detection of Hypoxia in Human Thoracic Aorta Using Pimonidazole Hydrochloride Recruiting NCT03410420 Phase 1 Pimonidazole hydrochloride
11 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
12 A Chinese Registry to Determine the Genetic Risk Factors and Serumal Biomarkers for Thoracic Aortic Aneurysm/Dissection Unknown status NCT03010514
13 Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study Unknown status NCT02010892
14 Superiority Trial of Type b Aortic Dissection Treatment Combined With Implantation of Bare Metal Stent in Abdominal Part of Aorta Versus Conventional Type b Treatment Unknown status NCT02726841
15 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
16 Clinical Study of Thoracic Aortic Aneurysm Exclusion Using the VALIANT System Unknown status NCT00549315
17 Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic Lesions Unknown status NCT00597870
18 A Clinical Study Evaluating Use of the Thoracic EXCLUDER Endoprosthesis in the Treatment of Descending Thoracic Aortic Diseases Unknown status NCT00546312
19 Zenith® TX2® Low Profile TAA Endovascular Graft Clinical Study Approved for marketing NCT02471781
20 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
21 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA) Completed NCT02256163
22 Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176
23 Thoracic Aortic Dilatation Syndromes - Diagnostic, Incidences, Morbidity, Mortality and Socioeconomical Observations. Completed NCT02111668
24 Zenith TX2® TAA Endovascular Graft Post-approval Study Completed NCT00813358
25 An Evaluation of the GORE Conformable TAG® Thoracic Endoprosthesis for the Primary Treatment of Aneurysm of the Descending Thoracic Aortic Completed NCT00874250
26 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
27 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Completed NCT02204774
28 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
29 Lithuanian Athletes' Aortic Root Diameter Completed NCT03656861
30 Evaluation of a Simulation Based Workshop to Enhance Learning of Insertion and Management of CSF Drainage Catheters in an Anesthesia Residency Program Completed NCT03545984
31 Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection Recruiting NCT02852603
32 Study on Susceptibility Genes and Pathogenic Mechanism of Non-syndromic Familial Aortic Dissection Recruiting NCT04439565
33 Does Prehabilitation Prior to Thoracic Aortic Repair Improve Quality of Care? Recruiting NCT02767518
34 Cardiovascular Health Improvement Project Recruiting NCT02306200
35 A Prospective Study to Assess the Quality of Life of Adults With Inherited and Non-inherited Cardiac Disease Recruiting NCT04080492
36 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
37 Clinical Outcomes and Quality of Life Measures in Patients Treated for Complex Abdominal Aortic Aneurysms With Fenestrated Stent Grafts. Recruiting NCT01937949
38 Visceral Manifold and Unitary Device Study for the Repair of Thoracoabdominal Aortic Aneurysms Recruiting NCT02294435
39 Prospective Study to Examine the Impact of Anesthesia on the Dimension of the Ascending Aorta in Patients With a Dilated Aorta Who Undergo Open-heart Surgery Recruiting NCT03431870
40 The CardiOvascular Remodeling Following Endovascular Aortic Repair (CORE) Study Recruiting NCT02735720
41 Treatment in Thoracic Aortic Aneurysm: Surgery vs Surveillance (TITAN:SvS) Recruiting NCT03536312
42 Non-invasive Detection of Bicuspid Aortic Valve-Related Thoracic Aortopathy Recruiting NCT04083118
43 Evaluation of Aortic Stiffness as a Prognostic Indicator of Aortic Dilatation in Patients With Bicuspid Aortic Valve (BAV) by Multimodal Imaging (MRI, Echocardiography and Ultrafast Ultrasound Imaging) Recruiting NCT03474159
44 Mapping of Aortic Arch Hemodynamics by Biomechanical Analysis and Modeling for Planning Thoracic Endovascular Aortic Repair Recruiting NCT03824626
45 Obstructive Sleep Apnoea in Adolescents With Thoracic Aortic Aneurysm Active, not recruiting NCT03400319
46 Valiant Evo International Clinical Trial Active, not recruiting NCT02625324
47 Valiant Evo US Clinical Trial Active, not recruiting NCT02652949
48 Aneurysm Treatment Using the Heli-FXâ„¢ EndoAnchorâ„¢ System Global Registry Active, not recruiting NCT01534819
49 Evaluation of Safety and Efficacy of the Bifurcated Multilayer Flow Modulator (BMFM®). Active, not recruiting NCT03024554
50 A Study of the Safety, Efficacy, Longitudinal Costs and Patient-Centered Outcomes Using a TAAA Debranching Device Enrolling by invitation NCT03637374

Search NIH Clinical Center for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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Genetic Tests for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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Genetic tests related to Familial Thoracic Aortic Aneurysm and Aortic Dissection:

# Genetic test Affiliating Genes
1 Familial Thoracic Aortic Aneurysm and Aortic Dissection 29 FBN1 SMAD3 TGFBR1 TGFBR2
2 Congenital Aneurysm of Ascending Aorta 29
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Anatomical Context for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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

40
Heart, Brain, Skin, Bone, Smooth Muscle, Liver, Small Intestine
Sources

Publications for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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Articles related to Familial Thoracic Aortic Aneurysm and Aortic Dissection:

(show all 19)
# 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
Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels. 61
31577255 2019
5
Spontaneous perforation of small intestine followed by rupture of the cystic artery: the natural history of Vascular Ehlers-Danlos Syndrome. 61
30863729 2019
6
A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality. 61
31587008 2019
7
Outcomes of Early-Onset Acute Type A Aortic Dissection　- Influence of Etiologic Factors. 61
30584230 2019
8
Repeated Loss of Consciousness in a Young Woman: A Suspicious SMAD3 Mutation Underlying Spontaneous Coronary Artery Dissection. 61
27986426 2017
9
The Genetics of Aortopathies in Clinical Cardiology. 61
28607545 2017
10
Genetics, Pregnancy, and Aortic Degeneration. 61
26381327 2016
11
Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm. 61
28509973 2015
12
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. 61
25110237 2014
13
Familial thoracic aortic aneurysm with dissection presenting as flash pulmonary edema in a 26-year-old man. 61
25104961 2014
14
Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm. 61
24711937 2014
15
Marfan's syndrome and other aortopathies in pregnancy. 61
27708702 2013
16
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 61
21778426 2011
17
Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations. 61
19336958 2009
18
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. 61
17956658 2007
19
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. 61
9723636 1998
Sources

Variations for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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

6 (show top 50) (show all 3212) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 15:48707902-48707903 15:48415705-48415706
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 15:48789542-48789543 15:48497345-48497346
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 15:67457271-67457272 15:67164933-67164934
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 15:67477093-67477094 15:67184755-67184756
12 FBN1 NM_000138.4(FBN1):c.6695G>A (p.Cys2232Tyr)SNV Pathogenic 406315 rs1060501054 15:48725107-48725107 15:48432910-48432910
13 FBN1 NM_000138.4(FBN1):c.5627G>A (p.Cys1876Tyr)SNV Pathogenic 406296 rs112728248 15:48741009-48741009 15:48448812-48448812
14 FBN1 NM_000138.4(FBN1):c.2305T>C (p.Cys769Arg)SNV Pathogenic 406272 rs1060501022 15:48788411-48788411 15:48496214-48496214
15 FBN1 NM_000138.4(FBN1):c.799_805del (p.Gly267fs)deletion Pathogenic 406374 rs1060501100 15:48826334-48826340 15:48534137-48534143
16 FBN1 NM_000138.4(FBN1):c.7421del (p.Tyr2474fs)deletion Pathogenic 406324 rs1060501060 15:48717598-48717598 15:48425401-48425401
17 FBN1 NM_000138.4(FBN1):c.6784C>T (p.Gln2262Ter)SNV Pathogenic 406274 rs1060501023 15:48722955-48722955 15:48430758-48430758
18 FBN1 NM_000138.4(FBN1):c.2722T>C (p.Cys908Arg)SNV Pathogenic 406271 rs1060501021 15:48786407-48786407 15:48494210-48494210
19 SMAD3 NM_005902.4(SMAD3):c.427_431del (p.His143fs)deletion Pathogenic 405569 rs1060500773 15:67457616-67457620 15:67165278-67165282
20 FBN1 NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs)deletion Pathogenic 419823 rs1064794130 15:48703274-48703278 15:48411077-48411081
21 FBN1 NM_000138.4(FBN1):c.6616+1G>ASNV Pathogenic 419595 rs1064793980 15:48726790-48726790 15:48434593-48434593
22 FBN1 NM_000138.4(FBN1):c.2269del (p.Asp757fs)deletion Pathogenic 419089 rs1064793636 15:48789487-48789487 15:48497290-48497290
23 FBN1 NM_000138.4(FBN1):c.917del (p.Asn306fs)deletion Pathogenic 419091 rs1064793637 15:48818398-48818398 15:48526201-48526201
24 SMAD3 NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter)SNV Pathogenic 420088 rs757106110 15:67479795-67479795 15:67187457-67187457
25 FBN1 NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter)SNV Pathogenic 439701 rs1555394195 15:48713798-48713798 15:48421601-48421601
26 TGFBR2 NM_003242.6(TGFBR2):c.1397-1G>ASNV Pathogenic 477538 rs1553631693 3:30729875-30729875 3:30688383-30688383
27 TGFBR1 NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter)SNV Pathogenic 477559 rs1057524497 9:101900299-101900299 9:99138017-99138017
28 TGFBR1 NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)SNV Pathogenic 477562 rs1554700672 9:101900347-101900347 9:99138065-99138065
29 FBN1 NC_000015.10:g.(?_48410970)_(48497411_?)deldeletion Pathogenic 457150 15:48703167-48789608 15:48410970-48497411
30 FBN1 NC_000015.10:g.(?_48415161)_(48468554_?)deldeletion Pathogenic 457153 15:48707358-48760751 15:48415161-48468554
31 FBN1 NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter)SNV Pathogenic 457257 rs1555394567 15:48719856-48719856 15:48427659-48427659
32 FBN1 NM_000138.4(FBN1):c.6616+1G>CSNV Pathogenic 457247 rs1064793980 15:48726790-48726790 15:48434593-48434593
33 FBN1 NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs)indel Pathogenic 457226 rs1555397007 15:48757886-48757886 15:48465689-48465689
34 FBN1 NM_000138.4(FBN1):c.4691G>A (p.Cys1564Tyr)SNV Pathogenic 457221 rs267606800 15:48760191-48760191 15:48467994-48467994
35 FBN1 NM_000138.4(FBN1):c.4582+1G>TSNV Pathogenic 457217 rs1555397195 15:48760608-48760608 15:48468411-48468411
36 FBN1 NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs)indel Pathogenic 457176 rs1555399095 15:48786437-48786447 15:48494240-48494250
37 FBN1 NM_000138.4(FBN1):c.336dup (p.Ser113fs)duplication Pathogenic 457193 rs1555405528 15:48902934-48902935 15:48610737-48610738
38 SMAD3 NM_005902.4(SMAD3):c.246dup (p.Leu83fs)duplication Pathogenic 477571 rs1555412069 15:67457268-67457269 15:67164930-67164931
39 FBN1 NC_000015.10:g.(?_48410970)_(48537828_?)deldeletion Pathogenic 457151 15:48410970-48537828
40 FBN1 NC_000015.10:g.(?_48410970)_(48644789_?)deldeletion Pathogenic 457152 15:48410970-48644789
41 FBN1 NC_000015.10:g.(?_48503767)_(48510189_?)deldeletion Pathogenic 457154 15:48503767-48510189
42 FBN1 NC_000015.10:g.(?_48508562)_(48516382_?)deldeletion Pathogenic 457155 15:48508562-48516382
43 FBN1 NC_000015.10:g.(?_48508562)_(48644789_?)deldeletion Pathogenic 457156 15:48508562-48644789
44 FBN1 NM_000138.4(FBN1):c.7605C>G (p.Cys2535Trp)SNV Pathogenic 457264 rs113544411 15:48713849-48713849 15:48421652-48421652
45 FBN1 NM_000138.4(FBN1):c.6645del (p.Leu2216fs)deletion Pathogenic 457249 rs1555394928 15:48725157-48725157 15:48432960-48432960
46 FBN1 NM_000138.4(FBN1):c.6048_6056del (p.Cys2017_Glu2019del)deletion Pathogenic 457239 rs1555395483 15:48734025-48734033 15:48441828-48441836
47 FBN1 NM_000138.4(FBN1):c.6391T>A (p.Cys2131Ser)SNV Pathogenic 457245 rs1555395210 15:48729263-48729263 15:48437066-48437066
48 FBN1 NM_000138.4(FBN1):c.4293C>G (p.Cys1431Trp)SNV Pathogenic 457207 rs112375043 15:48764791-48764791 15:48472594-48472594
49 FBN1 NM_000138.4(FBN1):c.4293C>A (p.Cys1431Ter)SNV Pathogenic 457201 rs112375043 15:48764791-48764791 15:48472594-48472594
50 FBN1 NM_000138.4(FBN1):c.3962dup (p.Asp1322fs)duplication Pathogenic 457200 rs1555398137 15:48773853-48773854 15:48481656-48481657
Sources

Expression for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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

Pathways for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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

(show top 50) (show all 56)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.83 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2
GPCR Pathway 63
Show member pathways
 13.69 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
3
Integrin Pathway 63
Show member pathways
 13.46 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
4
PAK Pathway 63
Show member pathways
 13.26 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5
Phospholipase-C Pathway 63
Show member pathways
 13.12 TGFBR1 TGFB3 TGFB2 FBN1 ELN COL3A1
6
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.07 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
7
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 12.99 TGFBR2 TGFBR1 TGFB3 TGFB2 PRKG1 MYH11
8
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.91 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
9
Endometrial cancer 36
Show member pathways
 12.91 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10
Pathways in cancer 36
12.91 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11
Gastric cancer 36
Show member pathways
 12.83 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12
Degradation of the extracellular matrix 65
Show member pathways
 12.78 TGFB3 TGFB2 MFAP5 LOX FBN1 ELN
13
Th17 cell differentiation 36
Show member pathways
 12.68 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.55 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15
Oxytocin signaling pathway 36
Show member pathways
 12.48 PRKG1 MYLK MYH11 ACTA2
16
Human T-cell leukemia virus 1 infection 36
12.43 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17
Cell cycle 36 1
12.37 TGFB3 TGFB2 SMAD4 SMAD3
18
Wnt / Hedgehog / Notch 4
12.33 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
19
Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer 65
Show member pathways
 12.31 TGFBR2 TGFBR1 SMAD4 SMAD3
20
Cell cycle Role of SCF complex in cell cycle regulation 22
Show member pathways
 12.29 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3
21
Colorectal Cancer Metastasis 63
12.27 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
22
Cellular senescence (KEGG) 36
12.23 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
23
Hippo signaling pathway 36
12.23 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
24
Apelin signaling pathway 36
12.17 TGFBR1 SMAD4 SMAD3 MYLK ACTA2
25
TGF-beta Signaling Pathway (WikiPathways) 1
12.12 TGFBR2 TGFBR1 SMAD4 SMAD3
26
FoxO signaling pathway 36
Show member pathways
 12.12 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
27
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.95 TGFB3 TGFB2 BGN ACTA2
28
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.94 TGFBR2 TGFBR1 SMAD4 SMAD3
29
Senescence and Autophagy in Cancer 1
11.92 SMAD4 SMAD3 COL3A1
30
Angiogenesis (CST) 4
11.92 TGFBR1 TGFB3 TGFB2 NOTCH1
31
Amoebiasis 36
11.9 TGFB3 TGFB2 COL3A1
32
TGF-beta Signaling Pathways 64
11.89 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
33
SMAD2/3 MH2 Domain Mutants in Cancer 65
Show member pathways
 11.87 TGFBR2 TGFBR1 SMAD4 SMAD3 LOX
34
Th17 Differentiation 64
Show member pathways
 11.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
35
Development_TGF-beta receptor signaling 22
11.82 TGFBR2 TGFBR1 SMAD4 SMAD3
36
Adherens junction 36
11.81 TGFBR2 TGFBR1 SMAD4 SMAD3
37
TGF-beta receptor signaling activates SMADs 65
Show member pathways
 11.8 TGFBR2 TGFBR1 SMAD4 SMAD3
38
TGF-beta Receptor Signaling (WikiPathways) 1
11.71 TGFBR2 TGFBR1 SMAD4 SMAD3
39
AGE-RAGE signaling pathway in diabetic complications 36
11.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
40
Elastic fibre formation 65
Show member pathways
 11.66 TGFB3 TGFB2 MFAP5 LOX FBN1 ELN
41
IL-2 Gene Expression in Activated and Quiescent T-Cells 63
Show member pathways
 11.64 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
42
Transcription_P53 signaling pathway 22
11.64 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
43
ECM proteoglycans 65
11.63 TGFB3 TGFB2 BGN
44
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.6 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
45
Hepatitis C and Hepatocellular Carcinoma 1
11.58 TGFBR1 SMAD4 SMAD3
46
Cell adhesion_Plasmin signaling 22
11.56 TGFBR2 TGFBR1 TGFB2
47
TGF-beta signaling pathway (KEGG) 36
11.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
48
Smooth Muscle Contraction 65
11.42 MYLK MYH11 ACTA2
49
ALK1 signaling events 1
Show member pathways
 11.34 TGFBR2 TGFBR1 TGFB3 SMAD4
50
Glypican 1 network 1
11.27 TGFBR2 TGFBR1 TGFB3
Sources

GO Terms for Familial Thoracic Aortic Aneurysm and Aortic Dissection

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.02 TGFB3 TGFB2 NOTCH1 MFAP5 LOX FBN1
2 receptor complex GO:0043235 9.56 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
6 SMAD protein complex GO:0071141 9.16 SMAD4 SMAD3

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

(show top 50) (show all 72)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.16 TGFBR1 TGFB3 SMAD4 SMAD3 NOTCH1 ACTA2
2 positive regulation of cell proliferation GO:0008284 10.14 TGFBR2 TGFBR1 TGFB3 TGFB2 NOTCH1
3 positive regulation of gene expression GO:0010628 10.13 TGFBR1 SMAD3 SLC2A10 NOTCH1 ACTA2
4 negative regulation of cell proliferation GO:0008285 10.1 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3 NOTCH1
5 positive regulation of cell migration GO:0030335 10.03 TGFBR1 SMAD3 NOTCH1 MYLK
6 regulation of cell proliferation GO:0042127 10.01 TGFBR2 TGFB3 TGFB2 SMAD4 NOTCH1
7 response to hypoxia GO:0001666 9.98 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
8 cell cycle arrest GO:0007050 9.97 TGFBR1 TGFB2 SMAD3 NOTCH1
9 extracellular matrix organization GO:0030198 9.97 MFAP5 LOX FBN1 ELN COL3A1 BGN
10 kidney development GO:0001822 9.95 TGFBR1 TGFB2 SMAD4 FBN1
11 in utero embryonic development GO:0001701 9.95 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3 NOTCH1
12 skeletal system development GO:0001501 9.93 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
13 male gonad development GO:0008584 9.92 TGFBR1 TGFB2 SMAD4
14 lung development GO:0030324 9.92 TGFBR2 NOTCH1 LOX
15 BMP signaling pathway GO:0030509 9.91 TGFB3 TGFB2 SMAD4
16 heart development GO:0007507 9.91 TGFBR2 TGFBR1 TGFB2 NOTCH1 LOX FBN1
17 heart looping GO:0001947 9.89 TGFBR2 SMAD3 NOTCH1
18 blood vessel development GO:0001568 9.89 TGFBR2 LOX COL3A1
19 cellular response to transforming growth factor beta stimulus GO:0071560 9.88 TGFBR1 SMAD3 FBN1
20 outflow tract morphogenesis GO:0003151 9.88 TGFBR2 NOTCH1 ELN
21 SMAD protein signal transduction GO:0060395 9.88 TGFB3 TGFB2 SMAD4 SMAD3
22 positive regulation of stress fiber assembly GO:0051496 9.87 TGFBR1 TGFB3 SMAD3
23 lens development in camera-type eye GO:0002088 9.86 TGFBR2 TGFBR1 FOXE3
24 epithelial to mesenchymal transition GO:0001837 9.86 TGFBR1 TGFB2 NOTCH1
25 gastrulation GO:0007369 9.84 TGFBR2 SMAD4 SMAD3
26 embryonic cranial skeleton morphogenesis GO:0048701 9.83 TGFBR2 TGFBR1 SMAD3
27 digestive tract development GO:0048565 9.83 TGFBR2 TGFB3 COL3A1
28 collagen fibril organization GO:0030199 9.83 TGFBR1 TGFB2 LOX COL3A1
29 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.83 TGFBR2 TGFBR1 TGFB3 SMAD3 SLC2A10
30 endoderm development GO:0007492 9.82 SMAD4 SMAD3 NOTCH1
31 neuron fate commitment GO:0048663 9.82 TGFBR1 SMAD4 NOTCH1
32 outflow tract septum morphogenesis GO:0003148 9.81 TGFBR2 TGFB2 SMAD4
33 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.81 TGFBR1 TGFB3 TGFB2 SMAD4
34 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.8 SMAD4 SMAD3 LOX
35 cell-cell junction organization GO:0045216 9.79 TGFB3 TGFB2 SMAD3
36 activin receptor signaling pathway GO:0032924 9.78 TGFBR2 TGFBR1 SMAD3
37 ventricular trabecula myocardium morphogenesis GO:0003222 9.77 TGFBR1 TGFB2 NOTCH1
38 positive regulation of SMAD protein signal transduction GO:0060391 9.77 TGFBR1 TGFB3 SMAD4
39 regulation of epithelial cell proliferation GO:0050678 9.74 SMAD3 NOTCH1
40 pulmonary valve morphogenesis GO:0003184 9.74 TGFB2 NOTCH1
41 cardiac muscle cell proliferation GO:0060038 9.74 TGFB2 NOTCH1
42 supramolecular fiber organization GO:0097435 9.74 MFAP5 COL3A1
43 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.74 SMAD4 NOTCH1
44 pathway-restricted SMAD protein phosphorylation GO:0060389 9.74 TGFBR2 TGFBR1 TGFB2
45 response to cholesterol GO:0070723 9.73 TGFBR2 TGFBR1
46 elastic fiber assembly GO:0048251 9.73 MYH11 LOX
47 somatic stem cell division GO:0048103 9.73 TGFB2 NOTCH1
48 cardiac epithelial to mesenchymal transition GO:0060317 9.73 TGFBR1 TGFB2 NOTCH1
49 embryonic eye morphogenesis GO:0048048 9.72 MFAP5 FBN1
50 endothelial cell activation GO:0042118 9.72 TGFBR1 SMAD4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.58 SMAD4 SMAD3 LOX
2 activin binding GO:0048185 9.52 TGFBR2 TGFBR1
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.51 TGFBR2 TGFBR1
4 transforming growth factor beta binding GO:0050431 9.5 TGFBR2 TGFBR1 TGFB3
5 I-SMAD binding GO:0070411 9.49 TGFBR1 SMAD4
6 type I transforming growth factor beta receptor binding GO:0034713 9.48 TGFBR2 TGFB3
7 extracellular matrix constituent conferring elasticity GO:0030023 9.46 FBN1 ELN
8 SMAD binding GO:0046332 9.46 TGFBR2 TGFBR1 SMAD3 COL3A1
9 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
10 transforming growth factor beta receptor binding GO:0005160 9.43 TGFB3 TGFB2 SMAD3
11 type III transforming growth factor beta receptor binding GO:0034714 9.37 TGFB3 TGFB2
12 extracellular matrix structural constituent GO:0005201 9.35 MFAP5 FBN1 ELN COL3A1 BGN
13 type II transforming growth factor beta receptor binding GO:0005114 8.8 TGFBR1 TGFB3 TGFB2
Sources

Sources for Familial Thoracic Aortic Aneurysm and Aortic Dissection

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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