FAA
MCID: FML089
MIFTS: 46

Familial Thoracic Aortic Aneurysm and Dissection (FAA) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

Aliases & Descriptions for Familial Thoracic Aortic Aneurysm and Dissection:

Name: Familial Thoracic Aortic Aneurysm and Dissection 50 25
Congenital Aneurysm of Ascending Aorta 25 29
Familial Thoracic Aortic Aneurysm 50 25
Familial Aortic Dissection 50 25
Familial Aortic Aneurysm 50 25
Annuloaortic Ectasia 50 25
Familial Taad 50 25
Familial Thoracic Aortic Aneurysm and Aortic Dissection 50
Aortic Aneurysm, Thoracic 69
Thoracic Aortic Aneurysm 25
Ftaad 25
Taad 25
Faa 25
Taa 25

Classifications:



Summaries for Familial Thoracic Aortic Aneurysm and Dissection

NIH Rare Diseases : 50 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 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections and aortic aneurysm, familial thoracic 1, and has symptoms including hemoptysis, chest pain and hypertelorism. 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 ERK Signaling and Toll-like Receptor Signaling Pathway. The drugs Nicotine and Alpha 1-Antitrypsin have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and embryo

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.

Wikipedia : 71 Familial thoracic aortic aneurysm (also referred to as familial aortic dissection or cystic medial... more...

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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

(show all 29)
id Related Disease Score Top Affiliating Genes
1 marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections 12.3
2 aortic aneurysm, familial thoracic 1 11.1
3 loeys-dietz syndrome 2 11.0
4 aortic aneurysm, familial thoracic 4 11.0
5 thoracic aortic aneurysm 10.4
6 aortic aneurysm 10.4
7 aneurysm 10.4
8 melanoma 10.2
9 infective dermatitis associated with htlv-1 10.0 TGFBR1 TGFBR2
10 inflammatory breast carcinoma 10.0 TGFBR1 TGFBR2
11 enamel hypoplasia cataract hydrocephaly 10.0 TGFBR1 TGFBR2
12 adenosquamous breast carcinoma 10.0 FBN1 TGFBR2
13 heart lipoma 10.0 TGFBR1 TGFBR2
14 neuropathy, hereditary sensory and autonomic, type vi 9.9 FBN1 TGFBR2
15 type 2 papillary adenoma of the kidney 9.9 TGFBR1 TGFBR2
16 marfan syndrome 9.9
17 human venous malformation 9.8 TGFBR1 TGFBR2
18 chronic polyneuropathy 9.8 FBN1 TGFBR1 TGFBR2
19 mass syndrome 9.8 FBN1 TGFBR1 TGFBR2
20 cavernous malformation 9.8 FBN1 TGFBR1 TGFBR2
21 seckel syndrome 9.8
22 megalencephaly 9.8
23 intellectual developmental disorder with persistence of fetal hemoglobin 9.7 SMAD3 TGFBR1 TGFBR2
24 basal cell carcinoma 7 9.6 SMAD3 TGFBR1 TGFBR2
25 febrile ulceronecrotic mucha-habermann disease 9.5 FBN1 SMAD3 TGFBR1 TGFBR2
26 endemic typhus 9.5 FBN1 SMAD3 TGFBR1 TGFBR2
27 algoneurodystrophy 9.5 FBN1 SMAD3 TGFBR1 TGFBR2
28 tmem231-related meckel syndrome 9.5 FBN1 SMAD3 TGFBR1 TGFBR2
29 central nervous system teratoma 9.5 FBN1 SMAD3 TGFBR1 TGFBR2

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)
id Description HPO Frequency HPO Source Accession
1 hemoptysis 32 HP:0002105
2 chest pain 32 HP:0100749
3 hypertelorism 32 HP:0000316
4 hypertension 32 HP:0000822
5 scoliosis 32 HP:0002650
6 inguinal hernia 32 HP:0000023
7 pes planus 32 HP:0001763
8 cardiomegaly 32 HP:0001640
9 transient ischemic attack 32 HP:0002326
10 retrognathia 32 HP:0000278
11 patent ductus arteriosus 32 HP:0001643
12 high, narrow palate 32 HP:0002705
13 bicuspid aortic valve 32 HP:0001647
14 arachnodactyly 32 HP:0001166
15 dural ectasia 32 HP:0100775
16 ascending aortic dissection 32 HP:0004933
17 descending aortic dissection 32 HP:0012499
18 bruising susceptibility 32 HP:0000978
19 subarachnoid hemorrhage 32 HP:0002138
20 tall stature 32 HP:0000098
21 abnormality of the sternum 32 HP:0000766
22 cutis marmorata 32 HP:0000965
23 hypovolemia 32 HP:0011106
24 pneumothorax 32 HP:0002107
25 aortic regurgitation 32 HP:0001659
26 exertional dyspnea 32 HP:0002875
27 abdominal aortic aneurysm 32 HP:0004953
28 cerebral aneurysm 32 HP:0004944
29 coronary artery disease 32 HP:0001677
30 abnormality of the iris 32 HP:0000525
31 ascending aortic aneurysm 32 HP:0002631
32 descending aortic aneurysm 32 HP:0004954
33 left ventricular failure 32 HP:0005162
34 carotid artery aneurysm 32 HP:0012163
35 paroxysmal dyspnea 32 HP:0012763
36 cystic medial necrosis of the aorta 32 HP:0200146
37 prenatal maternal abnormality 32 HP:0002686
38 ischemic stroke 32 HP:0002140
39 peripheral artery occlusive disease 32 HP:0005315

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

44
id 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 FBN1 SMAD3 TGFBR1 TGFBR2
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 FBN1 SMAD3 TGFBR1 TGFBR2

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 10)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 2 54-11-5 942 89594
2 Alpha 1-Antitrypsin Phase 1, Phase 2
3 HIV Protease Inhibitors Phase 1, Phase 2
4
protease inhibitors Phase 1, Phase 2
5 Protein C Phase 1, Phase 2
6 Protein C Inhibitor Phase 1, Phase 2
7 Serine Proteinase Inhibitors Phase 1, Phase 2
8 Trypsin Inhibitors Phase 1, Phase 2
9 serine Nutraceutical Phase 1, Phase 2
10
Warfarin Approved 81-81-2 6691 54678486

Interventional clinical trials:


id Name Status NCT ID Phase
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
2 Tobacco Approach Avoidance Training for Adolescent Smokers-1 Completed NCT01625767 Phase 2
3 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
4 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm Recruiting NCT02256163
5 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
6 A Registry Study on Genetics and Biomarkers of Thoracic Aortic Aneurysm/Dissection Recruiting NCT03010514
7 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Recruiting NCT01599533
8 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. Recruiting NCT02018835
9 Registry Of Acute meDical Emergencies in Brazil Recruiting NCT02753023

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:

id 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:

39
Heart

Publications for Familial Thoracic Aortic Aneurysm and Dissection

Articles related to Familial Thoracic Aortic Aneurysm and Dissection:

(show all 13)
id Title Authors Year
1
Aortic rupture after thoracic endovascular repair in a patient with familial thoracic aortic aneurysm and dissections type 6 (FTAAD6). ( 27094429 )
2016
2
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. ( 26621581 )
2016
3
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. ( 24020716 )
2015
4
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6). ( 26220220 )
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 GeneCards Suite gene sharing:

(show all 44)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.46 FBN1 SMAD3 TGFBR1 TGFBR2
2
Show member pathways
12.63 SMAD3 TGFBR1 TGFBR2
3
Show member pathways
12.57 SMAD3 TGFBR1 TGFBR2
4 12.44 SMAD3 TGFBR1 TGFBR2
5
Show member pathways
12.37 SMAD3 TGFBR1 TGFBR2
6
Show member pathways
12.33 SMAD3 TGFBR1 TGFBR2
7
Show member pathways
12.26 SMAD3 TGFBR1 TGFBR2
8 12.23 SMAD3 TGFBR1 TGFBR2
9 12.22 SMAD3 TGFBR1 TGFBR2
10
Show member pathways
12.15 SMAD3 TGFBR1 TGFBR2
11
Show member pathways
12.1 SMAD3 TGFBR1 TGFBR2
12
Show member pathways
12.03 SMAD3 TGFBR1 TGFBR2
13 11.99 SMAD3 TGFBR1 TGFBR2
14 11.96 SMAD3 TGFBR1 TGFBR2
15
Show member pathways
11.92 SMAD3 TGFBR1 TGFBR2
16
Show member pathways
11.9 SMAD3 TGFBR1 TGFBR2
17 11.88 TGFBR1 TGFBR2
18
Show member pathways
11.88 SMAD3 TGFBR1 TGFBR2
19 11.86 SMAD3 TGFBR1 TGFBR2
20 11.83 SMAD3 TGFBR1
21 11.79 TGFBR1 TGFBR2
22
Show member pathways
11.73 SMAD3 TGFBR1 TGFBR2
23 11.71 SMAD3 TGFBR1 TGFBR2
24 11.7 SMAD3 TGFBR1 TGFBR2
25
Show member pathways
11.65 SMAD3 TGFBR1 TGFBR2
26 11.6 SMAD3 TGFBR1 TGFBR2
27
Show member pathways
11.54 SMAD3 TGFBR1 TGFBR2
28 11.51 SMAD3 TGFBR1 TGFBR2
29 11.49 SMAD3 TGFBR1 TGFBR2
30 11.47 SMAD3 TGFBR1 TGFBR2
31
Show member pathways
11.43 SMAD3 TGFBR1 TGFBR2
32 11.38 SMAD3 TGFBR1
33 11.36 TGFBR1 TGFBR2
34 11.32 SMAD3 TGFBR1
35 11.31 SMAD3 TGFBR1 TGFBR2
36 11.28 SMAD3 TGFBR1
37 11.21 SMAD3 TGFBR1 TGFBR2
38
Show member pathways
11.08 TGFBR1 TGFBR2
39 11.06 TGFBR1 TGFBR2
40
Show member pathways
11.02 SMAD3 TGFBR1 TGFBR2
41 10.95 TGFBR1 TGFBR2
42 10.91 SMAD3 TGFBR1 TGFBR2
43 10.45 SMAD3 TGFBR1 TGFBR2
44 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:

id 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)
id 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 skeletal system development GO:0001501 9.63 FBN1 SMAD3 TGFBR1
5 cell cycle arrest GO:0007050 9.62 SMAD3 TGFBR1
6 kidney development GO:0001822 9.62 FBN1 TGFBR1
7 palate development GO:0060021 9.61 TGFBR1 TGFBR2
8 regulation of growth GO:0040008 9.61 TGFBR1 TGFBR2
9 peptidyl-threonine phosphorylation GO:0018107 9.6 TGFBR1 TGFBR2
10 heart looping GO:0001947 9.59 SMAD3 TGFBR2
11 signal transduction by protein phosphorylation GO:0023014 9.58 TGFBR1 TGFBR2
12 positive regulation of stress fiber assembly GO:0051496 9.58 SMAD3 TGFBR1
13 lens development in camera-type eye GO:0002088 9.57 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 wound healing GO:0042060 9.54 SMAD3 TGFBR1 TGFBR2
18 activin receptor signaling pathway GO:0032924 9.51 SMAD3 TGFBR1
19 transforming growth factor beta receptor signaling pathway GO:0007179 9.5 SMAD3 TGFBR1 TGFBR2
20 pathway-restricted SMAD protein phosphorylation GO:0060389 9.48 TGFBR1 TGFBR2
21 response to cholesterol GO:0070723 9.43 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:

id Name GO ID Score Top Affiliating Genes
1 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.32 TGFBR1 TGFBR2
2 transforming growth factor beta binding GO:0050431 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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