MCID: FML089
MIFTS: 51

Familial Thoracic Aortic Aneurysm and Dissection

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

MalaCards integrated aliases for Familial Thoracic Aortic Aneurysm and Dissection:

Name: Familial Thoracic Aortic Aneurysm and Dissection 49 24 36
Congenital Aneurysm of Ascending Aorta 24 28
Familial Thoracic Aortic Aneurysm 49 24
Familial Aortic Dissection 49 24
Familial Aortic Aneurysm 49 24
Annuloaortic Ectasia 49 24
Familial Taad 49 24
Familial Thoracic Aortic Aneurysm and Aortic Dissection 49
Aortic Aneurysm, Thoracic 69
Thoracic Aortic Aneurysm 24
Ftaad 24
Taad 24
Faa 24
Taa 24

Classifications:



Summaries for Familial Thoracic Aortic Aneurysm and Dissection

NIH Rare Diseases : 49 Familial thoracic aortic aneurysm and dissection (Familial TAAD) is a rare condition that affects the aorta (the large blood vessel that distributes blood from the heart to the rest of the body). In people affected by this condition, the thoracic aorta (the upper part of the aorta, near the heart) may become weakened, stretched and/or enlarged. This can lead to a sudden tear of the inner wall of the aorta that allows blood to flow between the aorta's inner and outer walls (also called a dissection). These aortic abnormalities can be life-threatening as they can decrease blood flow to other parts of the body and/or cause the aorta to rupture. The onset of the condition varies significantly from person to person, even within the same family. Familial TAAD can be caused by changes (mutations) in several different genes and is inherited in an autosomal dominant manner. Treatment is generally based on the signs and symptoms present in each person and may include medications to reduce stress on the aorta and surgery to repair aortic abnormalities. Surveillance is generally recommended for at-risk relatives. Last updated: 4/5/2016

MalaCards based summary : Familial Thoracic Aortic Aneurysm and Dissection, also known as congenital aneurysm of ascending aorta, is related to aneurysm and marfan syndrome, and has symptoms including inguinal hernia, tall stature and retrognathia. An important gene associated with Familial Thoracic Aortic Aneurysm and Dissection is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are Vascular smooth muscle contraction and MAPK signaling pathway. The drugs Protein C and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and smooth muscle, and related phenotypes are cardiovascular system and embryo

Genetics Home Reference : 24 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.

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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



Diseases related to Familial Thoracic Aortic Aneurysm and Dissection

Symptoms & Phenotypes for Familial Thoracic Aortic Aneurysm and Dissection

Human phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

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

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 SMAD3 TGFBR1 TGFBR2 FBN1
2 embryo MP:0005380 9.46 TGFBR1 TGFBR2 FBN1 SMAD3
3 endocrine/exocrine gland MP:0005379 9.26 TGFBR1 TGFBR2 FBN1 SMAD3
4 skeleton MP:0005390 8.92 TGFBR1 TGFBR2 FBN1 SMAD3

Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Protein C Approved Phase 1, Phase 2
2
Nicotine Approved Phase 2 54-11-5 89594 942
3
protease inhibitors Phase 1, Phase 2
4 Serine Proteinase Inhibitors Phase 1, Phase 2
5 Alpha 1-Antitrypsin Phase 1, Phase 2
6 Trypsin Inhibitors Phase 1, Phase 2
7 HIV Protease Inhibitors Phase 1, Phase 2
8 Protein C Inhibitor Phase 1, Phase 2
9 serine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Single Dose Administration of Alpha-1 Anti-Trypsin for the Amelioration of Organ Injury in Patients Undergoing Cardiac Surgery Unknown status NCT02191839 Phase 1, Phase 2 Alpha 1-Antitrypsin
2 Tobacco Approach Avoidance Training for Adolescent Smokers-1 Completed NCT01625767 Phase 2
3 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm Completed NCT02256163
4 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
5 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900

Search NIH Clinical Center for Familial Thoracic Aortic Aneurysm and Dissection

Genetic Tests for Familial Thoracic Aortic Aneurysm and Dissection

Genetic tests related to Familial Thoracic Aortic Aneurysm and Dissection:

# Genetic test Affiliating Genes
1 Congenital Aneurysm of Ascending Aorta 28

Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

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

38
Heart, Testes, Smooth Muscle

Publications for Familial Thoracic Aortic Aneurysm and Dissection

Articles related to Familial Thoracic Aortic Aneurysm and Dissection:

(show all 13)
# Title Authors Year
1
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. ( 26621581 )
2016
2
Aortic rupture after thoracic endovascular repair in a patient with familial thoracic aortic aneurysm and dissections type 6 (FTAAD6). ( 27094429 )
2016
3
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6). ( 26220220 )
2015
4
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. ( 24020716 )
2015
5
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. ( 25434006 )
2014
6
Identification and Surgical Repair of Familial Thoracic Aortic Aneurysm and Dissection Caused by TGFBR1 Mutation. ( 25110237 )
2014
7
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. ( 22772371 )
2012
8
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. ( 21778426 )
2011
9
Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations. ( 19336958 )
2009
10
Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women. ( 16646045 )
2006
11
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. ( 16027248 )
2005
12
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. ( 12821554 )
2003
13
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. ( 11369686 )
2001

Variations for Familial Thoracic Aortic Aneurysm and Dissection

Expression for Familial Thoracic Aortic Aneurysm and Dissection

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

Pathways for Familial Thoracic Aortic Aneurysm and Dissection

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

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

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

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.46 FBN1 SMAD3 TGFBR1 TGFBR2
2
Show member pathways
13.01 FBN1 TGFBR1 TGFBR2
3
Show member pathways
12.75 SMAD3 TGFBR1 TGFBR2
4 12.58 SMAD3 TGFBR1 TGFBR2
5
Show member pathways
12.58 SMAD3 TGFBR1 TGFBR2
6
Show member pathways
12.52 SMAD3 TGFBR1 TGFBR2
7
Show member pathways
12.38 SMAD3 TGFBR1 TGFBR2
8
Show member pathways
12.36 SMAD3 TGFBR1 TGFBR2
9
Show member pathways
12.32 SMAD3 TGFBR1 TGFBR2
10
Show member pathways
12.26 SMAD3 TGFBR1 TGFBR2
11 12.22 SMAD3 TGFBR1 TGFBR2
12 12.2 SMAD3 TGFBR1 TGFBR2
13
Show member pathways
12.1 SMAD3 TGFBR1 TGFBR2
14
Show member pathways
12.04 SMAD3 TGFBR1 TGFBR2
15 12 SMAD3 TGFBR1 TGFBR2
16 11.98 SMAD3 TGFBR1 TGFBR2
17 11.96 SMAD3 TGFBR1 TGFBR2
18
Show member pathways
11.94 SMAD3 TGFBR1 TGFBR2
19
Show member pathways
11.92 SMAD3 TGFBR1 TGFBR2
20 11.89 TGFBR1 TGFBR2
21
Show member pathways
11.88 SMAD3 TGFBR1 TGFBR2
22 11.87 SMAD3 TGFBR1 TGFBR2
23 11.86 SMAD3 TGFBR1 TGFBR2
24 11.83 SMAD3 TGFBR1
25 11.8 TGFBR1 TGFBR2
26 11.71 SMAD3 TGFBR1 TGFBR2
27 11.68 SMAD3 TGFBR1 TGFBR2
28
Show member pathways
11.65 SMAD3 TGFBR1 TGFBR2
29
Show member pathways
11.63 SMAD3 TGFBR1 TGFBR2
30 11.58 SMAD3 TGFBR1 TGFBR2
31
Show member pathways
11.52 SMAD3 TGFBR1 TGFBR2
32 11.47 SMAD3 TGFBR1 TGFBR2
33 11.44 SMAD3 TGFBR1 TGFBR2
34
Show member pathways
11.41 SMAD3 TGFBR1 TGFBR2
35
Show member pathways
11.39 SMAD3 TGFBR1 TGFBR2
36 11.38 SMAD3 TGFBR1
37 11.36 TGFBR1 TGFBR2
38 11.32 SMAD3 TGFBR1
39 11.28 SMAD3 TGFBR1
40 11.26 SMAD3 TGFBR1 TGFBR2
41 11.14 SMAD3 TGFBR1 TGFBR2
42
Show member pathways
11.08 TGFBR1 TGFBR2
43 11.06 TGFBR1 TGFBR2
44 10.86 TGFBR1 TGFBR2
45 10.81 SMAD3 TGFBR1 TGFBR2
46 10.45 SMAD3 TGFBR1 TGFBR2
47 10.32 FBN1 SMAD3 TGFBR1 TGFBR2

GO Terms for Familial Thoracic Aortic Aneurysm and Dissection

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.13 SMAD3 TGFBR1 TGFBR2
2 transforming growth factor beta receptor complex GO:0070022 8.62 TGFBR1 TGFBR2

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.71 FBN1 TGFBR1 TGFBR2
2 in utero embryonic development GO:0001701 9.69 SMAD3 TGFBR1 TGFBR2
3 peptidyl-serine phosphorylation GO:0018105 9.63 TGFBR1 TGFBR2
4 cell cycle arrest GO:0007050 9.63 SMAD3 TGFBR1
5 kidney development GO:0001822 9.62 FBN1 TGFBR1
6 palate development GO:0060021 9.62 TGFBR1 TGFBR2
7 regulation of growth GO:0040008 9.61 TGFBR1 TGFBR2
8 peptidyl-threonine phosphorylation GO:0018107 9.61 TGFBR1 TGFBR2
9 skeletal system development GO:0001501 9.61 FBN1 SMAD3 TGFBR1
10 heart looping GO:0001947 9.6 SMAD3 TGFBR2
11 signal transduction by protein phosphorylation GO:0023014 9.59 TGFBR1 TGFBR2
12 positive regulation of stress fiber assembly GO:0051496 9.58 SMAD3 TGFBR1
13 lens development in camera-type eye GO:0002088 9.58 TGFBR1 TGFBR2
14 gastrulation GO:0007369 9.57 SMAD3 TGFBR2
15 ventricular septum morphogenesis GO:0060412 9.56 TGFBR1 TGFBR2
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.55 TGFBR1 TGFBR2
17 transforming growth factor beta receptor signaling pathway GO:0007179 9.54 SMAD3 TGFBR1 TGFBR2
18 activin receptor signaling pathway GO:0032924 9.52 SMAD3 TGFBR1
19 wound healing GO:0042060 9.5 SMAD3 TGFBR1 TGFBR2
20 positive regulation of SMAD protein import into nucleus GO:0060391 9.49 SMAD3 TGFBR1
21 pathway-restricted SMAD protein phosphorylation GO:0060389 9.48 TGFBR1 TGFBR2
22 response to cholesterol GO:0070723 9.46 TGFBR1 TGFBR2
23 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.43 SMAD3 TGFBR1 TGFBR2
24 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.4 TGFBR1 TGFBR2
25 cellular response to transforming growth factor beta stimulus GO:0071560 9.33 FBN1 SMAD3 TGFBR1
26 positive regulation of epithelial to mesenchymal transition GO:0010718 9.13 SMAD3 TGFBR1 TGFBR2
27 embryonic cranial skeleton morphogenesis GO:0048701 8.8 SMAD3 TGFBR1 TGFBR2

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.32 TGFBR1 TGFBR2
2 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.26 TGFBR1 TGFBR2
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 TGFBR1 TGFBR2
4 transforming growth factor beta-activated receptor activity GO:0005024 8.96 TGFBR1 TGFBR2
5 SMAD binding GO:0046332 8.8 SMAD3 TGFBR1 TGFBR2

Sources for Familial Thoracic Aortic Aneurysm and Dissection

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....