MCID: FML089
MIFTS: 50

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 53 25 37
Congenital Aneurysm of Ascending Aorta 25 29 6
Familial Thoracic Aortic Aneurysm 53 25 6
Familial Aortic Dissection 53 25
Familial Aortic Aneurysm 53 25
Annuloaortic Ectasia 53 25
Familial Taad 53 25
Familial Thoracic Aortic Aneurysm and Aortic Dissection 53
Familial Aortic Aneurysms 6
Aortic Aneurysm, Thoracic 73
Thoracic Aortic Aneurysm 25
Ftaad 25
Taad 25
Faa 25
Taa 25

Classifications:



Summaries for Familial Thoracic Aortic Aneurysm and Dissection

NIH Rare Diseases : 53 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.

MalaCards based summary : Familial Thoracic Aortic Aneurysm and Dissection, also known as congenital aneurysm of ascending aorta, is related to loeys-dietz syndrome 1 and marfan syndrome. 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 inguinal hernia and tall stature

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.

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:

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.62 FBN1 SMAD3 TGFBR1 TGFBR2
2 embryo MP:0005380 9.56 SMAD3 TGFBR1 TGFBR2 FBN1
3 endocrine/exocrine gland MP:0005379 9.46 FBN1 SMAD3 TGFBR1 TGFBR2
4 neoplasm MP:0002006 9.13 SMAD3 TGFBR1 TGFBR2
5 skeleton MP:0005390 8.92 SMAD3 TGFBR1 TGFBR2 FBN1

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 54-11-5 942 89594
3
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951
4
protease inhibitors Phase 1, Phase 2
5 Serine Proteinase Inhibitors Phase 1, Phase 2
6 Alpha 1-Antitrypsin Phase 1, Phase 2
7 HIV Protease Inhibitors Phase 1, Phase 2
8 Trypsin Inhibitors Phase 1, Phase 2
9 Protein C Inhibitor 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 29

Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

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

41
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

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh37 Chromosome 3, 30733044: 30733044
2 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh38 Chromosome 3, 30691552: 30691552
3 TGFBR2 NM_003242.5(TGFBR2): c.412T> G (p.Cys138Gly) single nucleotide variant Uncertain significance rs863223838 GRCh38 Chromosome 3, 30650418: 30650418
4 TGFBR2 NM_003242.5(TGFBR2): c.412T> G (p.Cys138Gly) single nucleotide variant Uncertain significance rs863223838 GRCh37 Chromosome 3, 30691910: 30691910
5 MYLK NM_053025.3(MYLK): c.399G> T (p.Gln133His) single nucleotide variant Conflicting interpretations of pathogenicity rs140148380 GRCh37 Chromosome 3, 123458823: 123458823
6 MYLK NM_053025.3(MYLK): c.399G> T (p.Gln133His) single nucleotide variant Conflicting interpretations of pathogenicity rs140148380 GRCh38 Chromosome 3, 123739976: 123739976
7 MYLK NM_053025.3(MYLK): c.3184G> T (p.Ala1062Ser) single nucleotide variant Uncertain significance rs11558550 GRCh37 Chromosome 3, 123419131: 123419131
8 MYLK NM_053025.3(MYLK): c.3184G> T (p.Ala1062Ser) single nucleotide variant Uncertain significance rs11558550 GRCh38 Chromosome 3, 123700284: 123700284
9 MYH11 NM_001040113.1(MYH11): c.5197G> A (p.Ala1733Thr) single nucleotide variant Uncertain significance rs376154041 GRCh38 Chromosome 16, 15718434: 15718434
10 MYH11 NM_001040113.1(MYH11): c.5197G> A (p.Ala1733Thr) single nucleotide variant Uncertain significance rs376154041 GRCh37 Chromosome 16, 15812291: 15812291
11 MYH11 NM_001040113.1(MYH11): c.4417A> C (p.Lys1473Gln) single nucleotide variant Uncertain significance rs749181134 GRCh37 Chromosome 16, 15815461: 15815461
12 MYH11 NM_001040113.1(MYH11): c.4417A> C (p.Lys1473Gln) single nucleotide variant Uncertain significance rs749181134 GRCh38 Chromosome 16, 15721604: 15721604
13 MYLK NM_053025.3(MYLK): c.1955C> G (p.Pro652Arg) single nucleotide variant Uncertain significance rs761892127 GRCh37 Chromosome 3, 123427730: 123427730
14 MYLK NM_053025.3(MYLK): c.1955C> G (p.Pro652Arg) single nucleotide variant Uncertain significance rs761892127 GRCh38 Chromosome 3, 123708883: 123708883
15 MYH11 NM_001040113.1(MYH11): c.2243T> C (p.Met748Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 15841759: 15841759
16 MYH11 NM_001040113.1(MYH11): c.2243T> C (p.Met748Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 15747902: 15747902

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:

37
# 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
12.73 SMAD3 TGFBR1 TGFBR2
3
Show member pathways
12.71 SMAD3 TGFBR1 TGFBR2
4
Show member pathways
12.6 SMAD3 TGFBR1 TGFBR2
5 12.58 SMAD3 TGFBR1 TGFBR2
6
Show member pathways
12.57 SMAD3 TGFBR1 TGFBR2
7
Show member pathways
12.52 SMAD3 TGFBR1 TGFBR2
8
Show member pathways
12.31 SMAD3 TGFBR1 TGFBR2
9
Show member pathways
12.26 SMAD3 TGFBR1 TGFBR2
10
Show member pathways
12.23 SMAD3 TGFBR1 TGFBR2
11 12.21 SMAD3 TGFBR1 TGFBR2
12 12.19 SMAD3 TGFBR1 TGFBR2
13
Show member pathways
12.1 SMAD3 TGFBR1 TGFBR2
14
Show member pathways
12.06 SMAD3 TGFBR1 TGFBR2
15
Show member pathways
12.03 SMAD3 TGFBR1 TGFBR2
16 11.98 SMAD3 TGFBR1 TGFBR2
17 11.96 SMAD3 TGFBR1 TGFBR2
18 11.94 SMAD3 TGFBR1 TGFBR2
19
Show member pathways
11.91 TGFBR1 TGFBR2
20
Show member pathways
11.91 SMAD3 TGFBR1 TGFBR2
21 11.89 TGFBR1 TGFBR2
22
Show member pathways
11.87 SMAD3 TGFBR1 TGFBR2
23 11.86 SMAD3 TGFBR1 TGFBR2
24 11.85 SMAD3 TGFBR1 TGFBR2
25
Show member pathways
11.84 SMAD3 TGFBR1 TGFBR2
26 11.83 SMAD3 TGFBR1
27 11.8 TGFBR1 TGFBR2
28 11.71 SMAD3 TGFBR1 TGFBR2
29 11.68 SMAD3 TGFBR1 TGFBR2
30
Show member pathways
11.65 SMAD3 TGFBR1 TGFBR2
31 11.6 SMAD3 TGFBR1 TGFBR2
32
Show member pathways
11.54 SMAD3 TGFBR1 TGFBR2
33 11.49 SMAD3 TGFBR1 TGFBR2
34 11.47 SMAD3 TGFBR1 TGFBR2
35
Show member pathways
11.43 SMAD3 TGFBR1 TGFBR2
36 11.38 SMAD3 TGFBR1
37 11.36 TGFBR1 TGFBR2
38 11.32 SMAD3 TGFBR1
39 11.31 SMAD3 TGFBR1 TGFBR2
40 11.27 SMAD3 TGFBR1
41 11.21 SMAD3 TGFBR1 TGFBR2
42
Show member pathways
11.08 TGFBR1 TGFBR2
43 11.06 TGFBR1 TGFBR2
44
Show member pathways
11.02 SMAD3 TGFBR1 TGFBR2
45 10.91 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 26)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.7 FBN1 TGFBR1 TGFBR2
2 in utero embryonic development GO:0001701 9.67 SMAD3 TGFBR1 TGFBR2
3 peptidyl-serine phosphorylation GO:0018105 9.63 TGFBR1 TGFBR2
4 cell cycle arrest GO:0007050 9.62 SMAD3 TGFBR1
5 kidney development GO:0001822 9.62 FBN1 TGFBR1
6 roof of mouth development GO:0060021 9.61 TGFBR1 TGFBR2
7 signal transduction by protein phosphorylation GO:0023014 9.61 TGFBR1 TGFBR2
8 skeletal system development GO:0001501 9.61 FBN1 SMAD3 TGFBR1
9 peptidyl-threonine phosphorylation GO:0018107 9.6 TGFBR1 TGFBR2
10 regulation of growth GO:0040008 9.59 TGFBR1 TGFBR2
11 heart looping GO:0001947 9.58 SMAD3 TGFBR2
12 positive regulation of stress fiber assembly GO:0051496 9.58 SMAD3 TGFBR1
13 lens development in camera-type eye GO:0002088 9.57 TGFBR1 TGFBR2
14 gastrulation GO:0007369 9.56 SMAD3 TGFBR2
15 ventricular septum morphogenesis GO:0060412 9.55 TGFBR1 TGFBR2
16 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.54 TGFBR1 TGFBR2
17 transforming growth factor beta receptor signaling pathway GO:0007179 9.54 SMAD3 TGFBR1 TGFBR2
18 activin receptor signaling pathway GO:0032924 9.51 SMAD3 TGFBR1
19 wound healing GO:0042060 9.5 SMAD3 TGFBR1 TGFBR2
20 pathway-restricted SMAD protein phosphorylation GO:0060389 9.48 TGFBR1 TGFBR2
21 response to cholesterol GO:0070723 9.46 TGFBR1 TGFBR2
22 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.43 SMAD3 TGFBR1 TGFBR2
23 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.4 TGFBR1 TGFBR2
24 cellular response to transforming growth factor beta stimulus GO:0071560 9.33 FBN1 SMAD3 TGFBR1
25 positive regulation of epithelial to mesenchymal transition GO:0010718 9.13 SMAD3 TGFBR1 TGFBR2
26 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 obsolete 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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