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FAA
MCID: FML364
MIFTS: 70

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 20 58 29 6
Familial Thoracic Aortic Aneurysm and Dissection 20 43 36
Congenital Aneurysm of Ascending Aorta 43 29 6
Familial Thoracic Aortic Aneurysm 20 43 6
Familial Taad 20 43 58
Familial Aortic Dissection 20 43
Familial Aortic Aneurysm 20 43
Annuloaortic Ectasia 20 43
Familial Aortic Aneurysms 6
Aortic Aneurysm, Thoracic 70
Thoracic Aortic Aneurysm 43
Ftaad 43
Taad 43
Faa 43
Taa 43

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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MedlinePlus Genetics : 43 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 multisystemic smooth muscle dysfunction syndrome and loeys-dietz syndrome 2. An important gene associated with Familial Thoracic Aortic Aneurysm and Aortic Dissection is FBN1 (Fibrillin 1), 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, skin and kidney, and related phenotypes are cutis marmorata and mucoid extracellular matrix accumulation

GARD : 20 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 323)
# Related Disease Score Top Affiliating Genes
1 multisystemic smooth muscle dysfunction syndrome 33.1 ACTA2-AS1 ACTA2
2 loeys-dietz syndrome 2 32.2 TGFBR2 TGFBR1 MYH11 FBN1
3 meester-loeys syndrome 32.2 SLC2A10 BGN
4 aortic aneurysm, familial thoracic 10 32.0 SRFBP1 LOX
5 aortic aneurysm, familial thoracic 6 31.9 TGFBR1 SMAD3 SLC2A10 NDE1 MYLK MYH11
6 patent ductus arteriosus 1 31.9 TGFBR2 TGFBR1 SLC2A10 MYLK MYH11 FBN1
7 aortic valve insufficiency 31.5 TGFBR2 TGFBR1 MYH11 FBN1 ACTA2
8 loeys-dietz syndrome 1 31.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
9 mitral valve insufficiency 31.2 NDE1 MYH11 FBN1
10 aortic aneurysm, familial thoracic 1 31.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11 mitral valve disease 30.5 TGFB3 TGFB2 FBN1
12 tricuspid valve insufficiency 30.5 NDE1 MYH11 FBN1
13 marfan syndrome 30.4 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 LOX
14 lipoprotein quantitative trait locus 30.3 TGFBR2 TGFB2 SMAD3 MYH11 FBN1 ACTA2
15 intracranial aneurysm 30.3 TGFBR2 TGFBR1 TGFB2 LOX COL3A1
16 tracheal stenosis 30.3 TGFB3 FBN1
17 moyamoya disease 1 30.3 MYLK MYH11 ACTA2-AS1 ACTA2
18 scoliosis 30.3 TGFBR2 TGFB2 SMAD3 LOX FBN1
19 brittle bone disorder 30.1 LOX FBN1 COL3A1 BGN
20 aortic aneurysm, familial abdominal, 1 30.0 TGFBR2 MYH11 LOX FBN1 COL3A1 ACTA2
21 loeys-dietz syndrome 4 30.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
22 aortic aneurysm, familial thoracic 9 30.0 SRFBP1 LOX
23 arterial tortuosity syndrome 29.8 TGFBR2 TGFBR1 TGFB2 SLC2A10 MYH11 FBN1
24 loeys-dietz syndrome 3 29.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 SLC2A10
25 pulmonary fibrosis, idiopathic 29.5 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3 LOX
26 aortic aneurysm, familial thoracic 4 29.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 NDE1
27 connective tissue disease 29.2 TGFBR2 TGFBR1 TGFB2 SMAD3 PRKG1 NDE1
28 heritable thoracic aortic disease 28.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
29 loeys-dietz syndrome 28.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
30 aortic dissection 28.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
31 aortic valve disease 1 28.5 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
32 aortic disease 28.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
33 aortic aneurysm 28.0 TGFBR2 TGFBR1 TGFB3 TGFB2 SRFBP1 SMAD4
34 aneurysm 27.4 TGFBR2 TGFBR1 TGFB3 TGFB2 SRFBP1 SMAD4
35 rare disease with thoracic aortic aneurysm and aortic dissection 11.3
36 aortic aneurysm, familial thoracic 11 11.2
37 cystic medial necrosis of aorta 11.2
38 paraplegia 10.8
39 dysphagia 10.6
40 vascular disease 10.6
41 respiratory failure 10.5
42 aortitis 10.4
43 fanconi anemia, complementation group a 10.4
44 thalassemia 10.4
45 ischemia 10.4
46 microcolon 10.4 MYLK MYH11
47 lissencephaly 4 10.4 NDE1 MYH11
48 ehlers-danlos syndrome 10.4
49 pectus excavatum 10.4
50 transient hypogammaglobulinemia of infancy 10.4 TGFBR2 TGFBR1

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 top 50) (show all 52)
# 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 ascending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0004933
6 descending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0012499
7 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
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 paroxysmal dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0012763
13 abnormal left ventricular function 31 frequent (33%) HP:0005162
14 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
15 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
16 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
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 pneumothorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0002107
30 ischemic stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0002140
31 prenatal maternal abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002686
32 dilatation of the cerebral artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004944
33 hypovolemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011106
34 aortic root aneurysm 31 occasional (7.5%) HP:0002616
35 peripheral arterial stenosis 31 occasional (7.5%) HP:0004950
36 abdominal aortic aneurysm 31 occasional (7.5%) HP:0005112
37 abnormal sternum morphology 31 occasional (7.5%) HP:0000766
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 abnormality of the sternum 58 Occasional (29-5%)
43 dilatation of abdominal aorta 58 Occasional (29-5%)
44 occlusive vascular disease 58 Occasional (29-5%)
45 dilatation of ascending aorta 58 Occasional (29-5%)
46 abnormality of connective tissue 58 Very frequent (99-80%)
47 descending aortic aneurysm 58 Occasional (29-5%)
48 left ventricular dysfunction 58 Frequent (79-30%)
49 peripheral vascular insufficiency 58 Occasional (29-5%)
50 occlusive arterial disease 58 Occasional (29-5%)

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 9.92 TGFBR2
2 Decreased viability GR00221-A-1 9.92 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 9.92 COL3A1 PRKG1
4 Decreased viability GR00221-A-3 9.92 TGFBR2
5 Decreased viability GR00221-A-4 9.92 COL3A1 MYLK PRKG1 TGFBR1 TGFBR2
6 Decreased viability GR00249-S 9.92 MYLK TGFBR1 TGFBR2
7 Decreased viability GR00301-A 9.92 PRKG1
8 Decreased viability GR00402-S-2 9.92 TGFBR1 TGFBR2

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

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 ACTA2 COL3A1 FBN1 LOX MYH11 MYLK
2 cellular MP:0005384 10.33 BGN COL3A1 FBN1 MYH11 NDE1 PRKG1
3 growth/size/body region MP:0005378 10.31 BGN COL3A1 FBN1 LOX MYH11 MYLK
4 homeostasis/metabolism MP:0005376 10.27 BGN COL3A1 FBN1 LOX MYH11 MYLK
5 immune system MP:0005387 10.25 BGN COL3A1 FBN1 LOX MYLK PRKG1
6 digestive/alimentary MP:0005381 10.22 COL3A1 MYH11 MYLK PRKG1 SMAD3 SMAD4
7 hematopoietic system MP:0005397 10.22 COL3A1 FBN1 LOX PRKG1 SLC2A10 SMAD3
8 embryo MP:0005380 10.16 FBN1 LOX NDE1 SMAD3 SMAD4 TGFB2
9 craniofacial MP:0005382 10.14 BGN FBN1 LOX SMAD3 SMAD4 TGFB2
10 mortality/aging MP:0010768 10.13 BGN COL3A1 FBN1 LOX MYH11 MYLK
11 integument MP:0010771 10.06 BGN COL3A1 FBN1 LOX MYH11 SMAD3
12 muscle MP:0005369 10.03 ACTA2 BGN COL3A1 FBN1 LOX MYH11
13 limbs/digits/tail MP:0005371 9.91 BGN FBN1 LOX SMAD3 SMAD4 TGFB2
14 renal/urinary system MP:0005367 9.81 FBN1 MYH11 MYLK PRKG1 SLC2A10 SMAD3
15 respiratory system MP:0005388 9.61 COL3A1 FBN1 LOX MYH11 SLC2A10 TGFB2
16 skeleton MP:0005390 9.32 BGN FBN1 LOX MYLK SMAD3 SMAD4
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 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 Approved, Vet_approved Phase 4 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
7
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Iron Approved Phase 4 7439-89-6 23925 29936
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
11
Tryptophan Approved, Nutraceutical, Withdrawn Phase 4 73-22-3 6305
12
Cadexomer iodine Experimental Phase 4 94820-09-4
13
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
14 Anticonvulsants Phase 4
15 diuretics Phase 4
16 Carbonic Anhydrase Inhibitors Phase 4
17 Antigen-Antibody Complex Phase 4
18 Pharmaceutical Solutions Phase 4
19 Methylprednisolone Acetate Phase 4
20 Adrenergic Agents Phase 4
21 Neurotransmitter Agents Phase 4
22 Adrenergic alpha-Agonists Phase 4
23 Hypnotics and Sedatives Phase 4
24 Adrenergic Agonists Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Analgesics Phase 4
27
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
28
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
29
Cefazolin Approved Phase 2, Phase 3 25953-19-9 656510 33255
30
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
31
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
32
Lidocaine Approved, Vet_approved Phase 2, Phase 3 137-58-6 3676
33 Natriuretic Peptide, Brain Phase 3
34 Anti-Infective Agents Phase 2, Phase 3
35 Anesthetics Phase 2, Phase 3
36 Epinephryl borate Phase 2, Phase 3
37 Anti-Bacterial Agents Phase 2, Phase 3
38 Antibiotics, Antitubercular Phase 2, Phase 3
39
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
40
Naloxone Approved, Vet_approved Phase 2 465-65-6 5284596
41
Nicardipine Approved, Investigational Phase 2 55985-32-5 4474
42 Anesthetics, General Phase 2
43 Anesthetics, Intravenous Phase 2
44 Anesthetics, Dissociative Phase 2
45 Excitatory Amino Acid Antagonists Phase 2
46 Analgesics, Opioid Phase 2
47 Antihypertensive Agents Phase 2
48 Vasodilator Agents Phase 2
49 Hormones Phase 2
50 calcium channel blockers Phase 2

Interventional clinical trials:

(show top 50) (show all 129)
# Name Status NCT ID Phase Drugs
1 The Effect of Immunonutrition on Outcome and Postoperative Recovery in Patients Undergoing Elective Surgical Repair of a Thoraco (Abdominal) Aneurysm Aorta Unknown status NCT00339053 Phase 4 Immunonutrition ( Impact)
2 A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair Unknown status NCT01889498 Phase 4 Acetazolamide
3 Comparison of High Iodine Concentration Contrast Material (Isovue 370) vs Standard Protocol (Isovue 300) in Thoracoabdominal Aortic Computed Tomographic Angiography (CTA) for Radiation Dose Reduction Completed NCT02291718 Phase 4 Isovue
4 Endovascular Treatment of Thoracic Aortic Aneurysms Using the TALENT Stent Graft System Completed NCT00802984 Phase 4
5 Effects of OctaplasLG® on Endothelial Integrity in Patients Undergoing Emergency Surgery for Thoracic Aortic Dissections - a Randomized, Controlled, Single-blinded Investigator-initiated Pilot Trial Completed NCT02253082 Phase 4 OctaplasLG®
6 Effect of Intraoperative Dexmedetomidine on Lung Protection Following Thoracic Aorta Surgery With Hypothermic Circulatory Arrest: a Randomized Clinical Trial Completed NCT02678728 Phase 4 Dexmedetomidine;normal saline
7 CUstodiol Versus RInger: whaT Is the Best Agent? A Randomized Double Blind Trial. Completed NCT02327611 Phase 4 Custodiol;Enriched Ringer's lactate solution
8 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 Physician-Initiated Trial Investigating the BeGraft Peripheral Plus Stent Graft System as Bridging Stent in BEVAR for Complex Aortic Aneurysms Recruiting NCT03982940 Phase 3
15 Physician-Initiated Trial Investigating the BeGraft Peripheral Plus Stent Graft System as Bridging Stent in BEVAR for Complex Aortic Aneurysms Recruiting NCT03987035 Phase 3
16 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
17 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
18 Evaluation of the GORE TAG® Thoracic Endoprosthesis - 45 mm for the Primary Treatment of Aneurysms of the Descending Thoracic Aorta Completed NCT00608829 Phase 2
19 A Randomized, Double-blind, Placebo-controlled, Study to Identify the Opioid-sparing Effects, and Pain-reduction Potential of Low Dose Ketamine on Patients Undergoing TEVAR Procedures Receiving NCI Not yet recruiting NCT04600089 Phase 2 Saline;Ketamine
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 Comparison of Carbon Dioxide Flush and Saline Flush to Saline Flush Alone in TEVAR and TAVI Procedures to Reduce Cerebral Ischemia Recruiting NCT03998631 Phase 1
23 Detection of Hypoxia in Human Thoracic Aorta Using Pimonidazole Hydrochloride Recruiting NCT03410420 Phase 1 Pimonidazole hydrochloride
24 A Chinese Registry to Determine the Genetic Risk Factors and Serumal Biomarkers for Thoracic Aortic Aneurysm/Dissection Unknown status NCT03010514
25 Clinical Study of Thoracic Aortic Aneurysm Exclusion Using the VALIANT System Unknown status NCT00549315
26 Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study Unknown status NCT02010892
27 Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic Lesions Unknown status NCT00597870
28 Evaluation of the Safety and Efficacy of Multiple Overlapping Uncovered Stents for Endovascular Pararenal Aortic Aneurysm Repair Unknown status NCT01985906
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 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
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 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA) Completed NCT02256163
33 A Pilot Trial to Evaluate the Performance of the TriVascular Thoracic Stent Graft System Completed NCT01082172
34 Zenith TX2® TAA Endovascular Graft Post-approval Study Completed NCT00813358
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 Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176
37 Relationship Between Indexed Aortic Area and Aortic Diameter in Bicuspid Aortic Valve Aortopathy: A Retrospective Cohort Study Completed NCT04756778
38 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
39 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft in Patients With Thoracic Aortic Pathologies Completed NCT00435942
40 A Clinical Evaluation of the GORE TAG Thoracic Endoprosthesis in the Primary Treatment of Descending Thoracic Aortic Aneurysms Completed NCT00590759
41 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
42 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Completed NCT02204774
43 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
44 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
45 Development of Ultra-Low Dose CT Based Screening for Aortic Aneurysms Completed NCT03479164
46 Neurophysiological Intraoperative Monitoring During Aortic Surgery Completed NCT02644681
47 A Randomized Controlled Trial of Axillary vs. Innominate Artery Cannulation for Antegrade Cerebral Protection in Aortic Surgery: The ACE Randomized Trial Completed NCT02554032
48 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
49 Clinical Application of the Medyria TrackCath System in Endovascular Repair of Abdominal Aortic Aneurysms (AAA) - A Prospective Multi-centre Clinical Trial. Completed NCT04190979
50 A Comparison of Cold Blood Versus Cold Crystalloid Renal Perfusion for Prevention of Acute Renal Failure Following Thoracoabdominal Aortic Aneurysm Repair: A Randomized Study Completed NCT00691756

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, Skin, Kidney, Liver, Smooth Muscle, Spinal Cord, Endothelial
Sources

Publications for Familial Thoracic Aortic Aneurysm and Aortic Dissection

About this section

Articles related to Familial Thoracic Aortic Aneurysm and Aortic Dissection:

(show top 50) (show all 319)
# Title Authors PMID Year
1
Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. 6 61
25110237 2014
2
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. 6 61
21778426 2011
3
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease. 6
31098894 2019
4
Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy. 6
31624717 2019
5
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 6
30675029 2019
6
Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys⁻Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations. 6
31096651 2019
7
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. 6
30661052 2019
8
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. 6
29543232 2018
9
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. 6
29907982 2018
10
Testing patterns for genetically triggered aortic and arterial aneurysms and dissections at an academic center. 6
29510914 2018
11
High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations. 6
30158670 2018
12
Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome. 6
30048161 2018
13
Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome. 6
29848614 2018
14
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums. 6
29768367 2018
15
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene. 6
29717556 2018
16
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3. 6
29392890 2018
17
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation. 6
29444731 2018
18
Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2. 6
29339704 2018
19
Novel FBN1 mutation in a family with inherited Marfan Syndrome: p.Cys2672Arg. 6
28321935 2018
20
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 6
29357934 2018
21
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 6
28973303 2017
22
A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy. 6
28941062 2017
23
A novel FBN1 mutation causes autosomal dominant Marfan syndrome. 6
28944857 2017
24
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 6
28642162 2017
25
Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing. 6
28855619 2017
26
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. 6
27906200 2017
27
De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation. 6
28277377 2017
28
De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation. 6
28650953 2017
29
Extreme phenotypes of Loeys Dietz syndrome. 6
28225382 2017
30
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 6
27884935 2017
31
A novel SMAD3 mutation caused multiple aneurysms in a patient without osteoarthritis symptoms. 6
28185953 2017
32
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. 6
27582083 2017
33
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. 6
28050602 2017
34
Recapitulating and Correcting Marfan Syndrome in a Cellular Model. 6
28539832 2017
35
A novel fibrillin-1 mutation in an egyptian marfan family: A proband showing nephrotic syndrome due to focal segmental glomerulosclerosis. 6
28098115 2017
36
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. 6
27893734 2017
37
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). 6
27879313 2016
38
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. 6
27011056 2016
39
Genotype impacts survival in Marfan syndrome. 6
26787436 2016
40
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 6
27437668 2016
41
Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients. 6
27724990 2016
42
A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family. 6
27353645 2016
43
Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ. 6
27508510 2016
44
Genetic testing of 248 Chinese aortopathy patients using a panel assay. 6
27611364 2016
45
Pregnancy after aortic root replacement in Loeys-Dietz syndrome: High risk of aortic dissection. 6
27125181 2016
46
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. 6
27432961 2016
47
Fibrillin-1 Gene Mutations in Left Ventricular Non-compaction Cardiomyopathy. 6
27160103 2016
48
Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome. 6
27234404 2016
49
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 6
27112580 2016
50
Loeys Dietz Syndrome and pregnancy: A case report with literature review and a proposed focused management protocol. 6
27100340 2016
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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 6254)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBN1 NC_000015.10:g.(?_48444531)_(48444670_?)del Deletion Pathogenic 639375 GRCh37: 15:48736728-48736867
GRCh38: 15:48444531-48444670
2 FBN1 NM_000138.4(FBN1):c.3958T>C (p.Cys1320Arg) SNV Pathogenic 639403 rs1597558920 GRCh37: 15:48773858-48773858
GRCh38: 15:48481661-48481661
3 FBN1 NM_000138.4(FBN1):c.7921C>T (p.Gln2641Ter) SNV Pathogenic 549441 rs1555393866 GRCh37: 15:48707863-48707863
GRCh38: 15:48415666-48415666
4 FBN1 NC_000015.10:g.(?_48596273)_(48644779_?)del Deletion Pathogenic 639879 GRCh37: 15:48888470-48936976
GRCh38: 15:48596273-48644779
5 FBN1 NM_000138.4(FBN1):c.5015G>T (p.Cys1672Phe) SNV Pathogenic 640108 rs140627 GRCh37: 15:48756146-48756146
GRCh38: 15:48463949-48463949
6 FBN1 NM_000138.5(FBN1):c.5311dup (p.Arg1771fs) Duplication Pathogenic 641406 rs1597540923 GRCh37: 15:48748944-48748945
GRCh38: 15:48456747-48456748
7 FBN1 NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) SNV Pathogenic 263398 rs886038786 GRCh37: 15:48712995-48712995
GRCh38: 15:48420798-48420798
8 FBN1 NC_000015.10:g.(?_48460226)_(48499058_?)del Deletion Pathogenic 641001 GRCh37: 15:48752423-48791255
GRCh38: 15:48460226-48499058
9 FBN1 NM_000138.4(FBN1):c.3851G>A (p.Cys1284Tyr) SNV Pathogenic 449441 rs1555398173 GRCh37: 15:48773965-48773965
GRCh38: 15:48481768-48481768
10 FBN1 NM_000138.4(FBN1):c.2623T>A (p.Cys875Ser) SNV Pathogenic 642667 rs1597568880 GRCh37: 15:48787374-48787374
GRCh38: 15:48495177-48495177
11 FBN1 NM_000138.4(FBN1):c.2113G>A (p.Ala705Thr) SNV Pathogenic 642750 rs1597574156 GRCh37: 15:48795984-48795984
GRCh38: 15:48503787-48503787
12 FBN1 NM_000138.5(FBN1):c.2410dup (p.Thr804fs) Duplication Pathogenic 643068 rs1597569560 GRCh37: 15:48788305-48788306
GRCh38: 15:48496108-48496109
13 FBN1 NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) SNV Pathogenic 199953 rs794728160 GRCh37: 15:48714220-48714220
GRCh38: 15:48422023-48422023
14 FBN1 NM_000138.4(FBN1):c.165-2A>C SNV Pathogenic 642384 rs754351718 GRCh37: 15:48905291-48905291
GRCh38: 15:48613094-48613094
15 FBN1 NM_000138.5(FBN1):c.3211del (p.Ile1071fs) Deletion Pathogenic 643962 rs1597564038 GRCh37: 15:48780436-48780436
GRCh38: 15:48488239-48488239
16 FBN1 NM_000138.4(FBN1):c.4205G>A (p.Cys1402Tyr) SNV Pathogenic 519799 rs1555397646 GRCh37: 15:48766457-48766457
GRCh38: 15:48474260-48474260
17 FBN1 NM_000138.4(FBN1):c.5918-1G>A SNV Pathogenic 644021 rs1566898144 GRCh37: 15:48736858-48736858
GRCh38: 15:48444661-48444661
18 FBN1 NM_000138.4(FBN1):c.5579G>A (p.Cys1860Tyr) SNV Pathogenic 645309 rs1597535300 GRCh37: 15:48741057-48741057
GRCh38: 15:48448860-48448860
19 FBN1 NM_000138.5(FBN1):c.7080dup (p.Ser2361fs) Duplication Pathogenic 646120 rs1597517970 GRCh37: 15:48719887-48719888
GRCh38: 15:48427690-48427691
20 FBN1 NM_000138.4(FBN1):c.3173G>A (p.Gly1058Asp) SNV Pathogenic 646221 rs794728202 GRCh37: 15:48780600-48780600
GRCh38: 15:48488403-48488403
21 FBN1 NM_000138.4(FBN1):c.7325G>A (p.Cys2442Tyr) SNV Pathogenic 646261 rs1597516347 GRCh37: 15:48717941-48717941
GRCh38: 15:48425744-48425744
22 FBN1 NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs) Duplication Pathogenic 287723 rs886043709 GRCh37: 15:48741041-48741042
GRCh38: 15:48448844-48448845
23 FBN1 NM_000138.4(FBN1):c.2053T>A (p.Cys685Ser) SNV Pathogenic 646759 rs1597574236 GRCh37: 15:48796044-48796044
GRCh38: 15:48503847-48503847
24 FBN1 NM_000138.5(FBN1):c.1782del (p.Phe594fs) Deletion Pathogenic 646896 rs1597577114 GRCh37: 15:48800834-48800834
GRCh38: 15:48508637-48508637
25 FBN1 and overlap with 1 gene(s) NC_000015.10:g.(?_48520649)_(48520827_?)del Deletion Pathogenic 646962 GRCh37: 15:48812846-48813024
GRCh38: 15:48520649-48520827
26 FBN1 NM_000138.4(FBN1):c.6584G>T (p.Gly2195Val) SNV Pathogenic 647088 rs1597523768 GRCh37: 15:48726823-48726823
GRCh38: 15:48434626-48434626
27 FBN1 NM_000138.5(FBN1):c.7178dup (p.Arg2394fs) Duplication Pathogenic 643850 rs1597517771 GRCh37: 15:48719789-48719790
GRCh38: 15:48427592-48427593
28 FBN1 NM_000138.5(FBN1):c.6699del (p.Val2234fs) Deletion Pathogenic 647136 rs1597522415 GRCh37: 15:48725103-48725103
GRCh38: 15:48432906-48432906
29 FBN1 NM_000138.4(FBN1):c.2180G>A (p.Cys727Tyr) SNV Pathogenic 199991 rs1555399381 GRCh37: 15:48789576-48789576
GRCh38: 15:48497379-48497379
30 FBN1 NM_000138.4(FBN1):c.2495G>C (p.Cys832Ser) SNV Pathogenic 647275 rs397515775 GRCh37: 15:48787710-48787710
GRCh38: 15:48495513-48495513
31 FBN1 NM_000138.4(FBN1):c.7371dup (p.Ile2458fs) Duplication Pathogenic 549404 rs1555394407 GRCh37: 15:48717647-48717648
GRCh38: 15:48425450-48425451
32 FBN1 NC_000015.10:g.(?_48444531)_(48448903_?)del Deletion Pathogenic 647456 GRCh37: 15:48736728-48741100
GRCh38: 15:48444531-48448903
33 FBN1 NM_000138.4(FBN1):c.1510T>C (p.Cys504Arg) SNV Pathogenic 549020 rs1555400288 GRCh37: 15:48805824-48805824
GRCh38: 15:48513627-48513627
34 FBN1 NM_000138.4(FBN1):c.3473A>G (p.Glu1158Gly) SNV Pathogenic 647760 rs1597562926 GRCh37: 15:48779388-48779388
GRCh38: 15:48487191-48487191
35 FBN1 NM_000138.4(FBN1):c.3338A>G (p.Asp1113Gly) SNV Pathogenic 549158 rs140597 GRCh37: 15:48779634-48779634
GRCh38: 15:48487437-48487437
36 FBN1 NM_000138.4(FBN1):c.5377T>C (p.Cys1793Arg) SNV Pathogenic 647812 rs1555396424 GRCh37: 15:48748879-48748879
GRCh38: 15:48456682-48456682
37 FBN1 NM_000138.4(FBN1):c.2143_2161del (p.Pro715fs) Deletion Pathogenic 648195 rs1597571360 GRCh37: 15:48791188-48791206
GRCh38: 15:48498991-48499009
38 FBN1 NM_000138.4(FBN1):c.6623_6627del (p.Asn2208fs) Deletion Pathogenic 647381 rs1597522572 GRCh37: 15:48725175-48725179
GRCh38: 15:48432978-48432982
39 FBN1 NM_000138.4(FBN1):c.203G>A (p.Cys68Tyr) SNV Pathogenic 649153 rs1597633163 GRCh37: 15:48905251-48905251
GRCh38: 15:48613054-48613054
40 FBN1 NM_000138.4(FBN1):c.5097C>G (p.Tyr1699Ter) SNV Pathogenic 200059 rs368979510 GRCh37: 15:48755406-48755406
GRCh38: 15:48463209-48463209
41 TGFBR2 NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) SNV Pathogenic 177704 rs727504292 GRCh37: 3:30713742-30713742
GRCh38: 3:30672250-30672250
42 FBN1 NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer) Deletion Pathogenic 650082 rs1597559048 GRCh37: 15:48773942-48773942
GRCh38: 15:48481745-48481745
43 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Pathogenic 439708 rs113543334 GRCh37: 15:48725141-48725141
GRCh38: 15:48432944-48432944
44 FBN1 NC_000015.10:g.(?_48434584)_(48434723_?)del Deletion Pathogenic 651834 GRCh37: 15:48726781-48726920
GRCh38: 15:48434584-48434723
45 FBN1 NM_000138.5(FBN1):c.8259del (p.Ala2754fs) Deletion Pathogenic 651909 rs1597506905 GRCh37: 15:48703544-48703544
GRCh38: 15:48411347-48411347
46 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 GRCh37: 15:48787352-48787352
GRCh38: 15:48495155-48495155
47 FBN1 NM_000138.4(FBN1):c.6616+1G>A SNV Pathogenic 419595 rs1064793980 GRCh37: 15:48726790-48726790
GRCh38: 15:48434593-48434593
48 FBN1 NM_000138.4(FBN1):c.1510T>A (p.Cys504Ser) SNV Pathogenic 653004 rs1555400288 GRCh37: 15:48805824-48805824
GRCh38: 15:48513627-48513627
49 FBN1 NM_000138.5(FBN1):c.7760del (p.Gly2587fs) Deletion Pathogenic 653146 rs1597512677 GRCh37: 15:48712943-48712943
GRCh38: 15:48420746-48420746
50 FBN1 NM_000138.4(FBN1):c.7937G>A (p.Cys2646Tyr) SNV Pathogenic 653296 rs1597509701 GRCh37: 15:48707847-48707847
GRCh38: 15:48415650-48415650
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.
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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 57)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.86 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
2
Integrin Pathway 63
Show member pathways
 13.45 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK MYH11
3
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 13.38 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3 PRKG1
4
PAK Pathway 63
Show member pathways
 13.32 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
5
Toll-like Receptor Signaling Pathway 36 1
Show member pathways
 13.19 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
6
Phospholipase-C Pathway 63
Show member pathways
 13.07 TGFBR1 TGFB3 TGFB2 FBN1 COL3A1 ACTA2
7
Sertoli-Sertoli Cell Junction Dynamics 63
Show member pathways
 12.96 TGFBR2 TGFBR1 TGFB3 TGFB2 PRKG1 MYH11
8
NFAT and Cardiac Hypertrophy 63
Show member pathways
 12.9 TGFBR2 TGFBR1 TGFB3 TGFB2 MYLK ACTA2
9
Pathways in cancer 36
12.88 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
10
Endometrial cancer 36
Show member pathways
 12.84 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
11
Gastric cancer 36
Show member pathways
 12.81 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
12
Degradation of the extracellular matrix 65
Show member pathways
 12.79 TGFB3 TGFB2 LOX FBN1 COL3A1 BGN
13
Th17 cell differentiation 36
Show member pathways
 12.63 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
14
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.51 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
15
Oxytocin signaling pathway 36
Show member pathways
 12.47 PRKG1 MYLK MYH11 ACTA2
16
Human T-cell leukemia virus 1 infection 36
12.39 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
17
Cell cycle 1 36
12.36 TGFB3 TGFB2 SMAD4 SMAD3
18
Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer 65
Show member pathways
 12.3 TGFBR2 TGFBR1 SMAD4 SMAD3
19
Wnt / Hedgehog / Notch 4
12.29 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
20
Colorectal Cancer Metastasis 63
12.23 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
21
Cellular senescence (KEGG) 36
12.2 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD3
22
Hippo signaling pathway 36
12.18 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
23
Apelin signaling pathway 36
12.13 TGFBR1 SMAD4 SMAD3 MYLK ACTA2
24
TGF-beta Signaling Pathway (WikiPathways) 1
12.11 TGFBR2 TGFBR1 SMAD4 SMAD3
25
FoxO signaling pathway 36
Show member pathways
 12.09 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
26
Cell cycle Regulation of G1/S transition (part 1) 23
Show member pathways
 12.02 TGFBR2 TGFBR1 TGFB2 SMAD4 SMAD3
27
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.94 TGFB3 TGFB2 BGN ACTA2
28
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.93 TGFBR2 TGFBR1 SMAD4 SMAD3
29
Senescence and Autophagy in Cancer 1
11.92 SMAD4 SMAD3 COL3A1
30
Amoebiasis 36
11.9 TGFB3 TGFB2 COL3A1
31
TGF-beta Signaling Pathways 64
11.86 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
32
Angiogenesis (CST) 4
11.83 TGFBR1 TGFB3 TGFB2
33
SMAD2/3 MH2 Domain Mutants in Cancer 65
Show member pathways
 11.83 TGFBR2 TGFBR1 SMAD4 SMAD3 LOX
34
Elastic fibre formation 65
Show member pathways
 11.81 TGFB3 TGFB2 LOX FBN1
35
Development_TGF-beta receptor signaling 23
11.8 TGFBR2 TGFBR1 SMAD4 SMAD3
36
Th17 Differentiation Pathway 64
Show member pathways
 11.8 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
37
Adherens junction 36
11.79 TGFBR2 TGFBR1 SMAD4 SMAD3
38
TGF-beta receptor signaling activates SMADs 65
Show member pathways
 11.78 TGFBR2 TGFBR1 SMAD4 SMAD3
39
AGE-RAGE signaling pathway in diabetic complications 36
11.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
40
TGF-beta Receptor Signaling (WikiPathways) 1
11.68 TGFBR2 TGFBR1 SMAD4 SMAD3
41
ECM proteoglycans 65
11.63 TGFB3 TGFB2 BGN
42
IL-2 Gene Expression in Activated and Quiescent T-Cells 63
Show member pathways
 11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
43
Transcription_P53 signaling pathway 23
11.6 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
44
Hepatitis C and Hepatocellular Carcinoma 1
11.58 TGFBR1 SMAD4 SMAD3
45
Cell adhesion_Plasmin signaling 23
11.56 TGFBR2 TGFBR1 TGFB2
46
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.56 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
47
TGF-beta signaling pathway (KEGG) 36
11.47 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
48
Smooth Muscle Contraction 65
11.41 MYLK MYH11 ACTA2
49
ALK1 signaling events 1
Show member pathways
 11.3 TGFBR2 TGFBR1 TGFB3 SMAD4
50
Glypican 1 network 1
11.26 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 matrix GO:0031012 9.56 LOX FBN1 COL3A1 BGN
2 heteromeric SMAD protein complex GO:0071144 9.16 SMAD4 SMAD3
3 collagen-containing extracellular matrix GO:0062023 9.02 TGFB3 TGFB2 FBN1 COL3A1 BGN
4 SMAD protein complex GO:0071141 8.96 SMAD4 SMAD3

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.19 TGFBR2 TGFBR1 SMAD4 SMAD3 NDE1 FOXE3
2 protein phosphorylation GO:0006468 10.11 TGFBR2 TGFBR1 TGFB2 PRKG1 MYLK
3 negative regulation of cell proliferation GO:0008285 10.08 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
4 extracellular matrix organization GO:0030198 10 LOX FBN1 COL3A1 BGN
5 regulation of cell proliferation GO:0042127 9.98 TGFBR2 TGFB3 TGFB2 SMAD4
6 in utero embryonic development GO:0001701 9.97 TGFBR2 TGFBR1 TGFB3 SMAD4 SMAD3
7 response to hypoxia GO:0001666 9.95 TGFBR2 TGFB3 TGFB2 SMAD4 SMAD3
8 anatomical structure morphogenesis GO:0009653 9.94 SMAD4 SMAD3 FOXE3 FBN1
9 kidney development GO:0001822 9.93 TGFBR1 TGFB2 SMAD4 FBN1
10 heart development GO:0007507 9.93 TGFBR2 TGFBR1 TGFB2 LOX FBN1 COL3A1
11 skeletal system development GO:0001501 9.91 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
12 male gonad development GO:0008584 9.89 TGFBR1 TGFB2 SMAD4
13 muscle contraction GO:0006936 9.89 MYLK MYH11 ACTA2
14 BMP signaling pathway GO:0030509 9.88 TGFB3 TGFB2 SMAD4 SMAD3
15 cellular response to transforming growth factor beta stimulus GO:0071560 9.85 TGFBR1 SMAD3 FBN1
16 positive regulation of stress fiber assembly GO:0051496 9.84 TGFBR1 TGFB3 SMAD3
17 SMAD protein signal transduction GO:0060395 9.84 TGFB3 TGFB2 SMAD4 SMAD3
18 lens development in camera-type eye GO:0002088 9.83 TGFBR2 TGFBR1 FOXE3
19 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.82 TGFB2 SMAD4 SMAD3
20 gastrulation GO:0007369 9.8 TGFBR2 SMAD4 SMAD3
21 collagen fibril organization GO:0030199 9.8 TGFBR1 TGFB2 LOX COL3A1
22 embryonic cranial skeleton morphogenesis GO:0048701 9.79 TGFBR2 TGFBR1 SMAD3
23 cell-cell junction organization GO:0045216 9.79 TGFB3 TGFB2 SMAD3
24 outflow tract septum morphogenesis GO:0003148 9.78 TGFBR2 TGFB2 SMAD4
25 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.78 TGFBR1 TGFB3 TGFB2 SMAD4
26 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.77 SMAD4 SMAD3 LOX
27 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.77 TGFBR2 TGFBR1 TGFB3 SMAD3 SLC2A10
28 activin receptor signaling pathway GO:0032924 9.74 TGFBR2 TGFBR1 SMAD3
29 positive regulation of SMAD protein signal transduction GO:0060391 9.73 TGFBR1 TGFB3 SMAD4
30 ventricular septum morphogenesis GO:0060412 9.73 TGFBR2 TGFBR1 TGFB2 SMAD4
31 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.72 TGFBR2 TGFBR1
32 smooth muscle contraction GO:0006939 9.71 MYLK MYH11
33 uterus development GO:0060065 9.71 TGFB2 SMAD4
34 cardiac epithelial to mesenchymal transition GO:0060317 9.7 TGFBR1 TGFB2
35 ventricular trabecula myocardium morphogenesis GO:0003222 9.7 TGFBR1 TGFB2
36 atrioventricular valve morphogenesis GO:0003181 9.7 TGFBR2 TGFB2
37 pathway-restricted SMAD protein phosphorylation GO:0060389 9.7 TGFBR2 TGFBR1 TGFB2
38 transforming growth factor beta receptor signaling pathway GO:0007179 9.7 TGFBR2 TGFBR1 TGFB3 TGFB2 SMAD4 SMAD3
39 response to cholesterol GO:0070723 9.69 TGFBR2 TGFBR1
40 elastic fiber assembly GO:0048251 9.69 MYH11 LOX
41 endothelial cell activation GO:0042118 9.69 TGFBR1 SMAD4
42 salivary gland morphogenesis GO:0007435 9.68 TGFB3 TGFB2
43 SMAD protein complex assembly GO:0007183 9.68 SMAD4 SMAD3
44 membranous septum morphogenesis GO:0003149 9.67 TGFBR2 TGFB2
45 regulation of striated muscle tissue development GO:0016202 9.67 SMAD3 LOX
46 negative regulation of macrophage cytokine production GO:0010936 9.66 TGFB3 TGFB2
47 regulation of binding GO:0051098 9.65 SMAD4 SMAD3
48 endocardial cushion fusion GO:0003274 9.65 TGFBR2 TGFB2
49 positive regulation of tight junction disassembly GO:1905075 9.62 TGFBR1 TGFB3
50 uterine wall breakdown GO:0042704 9.6 TGFB3 TGFB2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.58 SMAD4 SMAD3 LOX
2 SMAD binding GO:0046332 9.54 TGFBR2 TGFBR1 SMAD3
3 transforming growth factor beta binding GO:0050431 9.5 TGFBR2 TGFBR1 TGFB3
4 activin binding GO:0048185 9.49 TGFBR2 TGFBR1
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.48 TGFBR2 TGFBR1
6 type I transforming growth factor beta receptor binding GO:0034713 9.46 TGFBR2 TGFB3
7 transforming growth factor beta-activated receptor activity GO:0005024 9.43 TGFBR2 TGFBR1
8 transforming growth factor beta receptor binding GO:0005160 9.43 TGFB3 TGFB2 SMAD3
9 I-SMAD binding GO:0070411 9.33 TGFBR1 SMAD4 SMAD3
10 type II transforming growth factor beta receptor binding GO:0005114 9.13 TGFBR1 TGFB3 TGFB2
11 type III transforming growth factor beta receptor binding GO:0034714 8.8 TGFBR2 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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