MCID: FML089
MIFTS: 42

Familial Thoracic Aortic Aneurysm and Dissection malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

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Aliases & Descriptions for Familial Thoracic Aortic Aneurysm and Dissection:

Name: Familial Thoracic Aortic Aneurysm and Dissection 46 24
Congenital Aneurysm of Ascending Aorta 24 25
Familial Thoracic Aortic Aneurysm 46 24
Familial Aortic Dissection 46 24
Familial Aortic Aneurysm 46 24
Annuloaortic Ectasia 46 24
Familial Taad 46 24
 
Familial Thoracic Aortic Aneurysm and Aortic Dissection 46
Aortic Aneurysm, Thoracic 66
Thoracic Aortic Aneurysm 24
Ftaad 24
Taad 24
Taa 24
Faa 24

Classifications:



Summaries for Familial Thoracic Aortic Aneurysm and Dissection

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NIH Rare Diseases:46 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. An important gene associated with Familial Thoracic Aortic Aneurysm and Dissection is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways are Glypican 1 network and Cell adhesion_Plasmin signaling. Affiliated tissues include heart and testes, and related mouse phenotypes are neoplasm and immune system.

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

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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 for Familial Thoracic Aortic Aneurysm and Dissection

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Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
NicotinePhase 2101654-11-5942, 89594
Synonyms:
(−
(+)-Nicotine
(+-)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(+-)-Nicotine
(-)-3-(1-Methyl-2-pyrrolidyl)pyridine
(-)-3-(N-Methylpyrrolidino)pyridine
(-)-Nicotine
(-)-Nicotine solution
(2S) 3-(1-Methyl-pyrrolidin-2-yl)-pyridine
(R)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(R,S)-Nicotine
(R,S)-nicotine
(RS)-nicotine
(S)-(-)-NICOTINE, 3-[(2S)-1-METHYL-2-PYRROLIDINYL] PYRIDINE
(S)-(-)-Nicotine
(S)-3-(1-methylpyrrolidin-2-yl)pyridine
(S)-3-(N-methylpyrrolidin-2-yl)pyridine
(S)-Nicotine
(±)-nicotine
)-1-Methyl-2-(3-pyridyl)pyrrolidine
)-Nicotine
)-Nicotine solution
1-Methyl-2-(3-pyridal)-Pyrrolidine
1-Methyl-2-(3-pyridal)-pyrrolidene
1-Methyl-2-(3-pyridiyl)pyrrolidine
1-Methyl-2-(3-pyridyl)pyrrolidine
1uw6
2'-beta-H-Nicotine
3-(1-Methyl-2-pyrollidinyl)pyridine
3-(1-Methyl-2-pyrrolidinyl)-Pyridine
3-(1-Methyl-2-pyrrolidinyl)pyridine
3-(1-Methylpyrrolidin-2-yl)pyridine
3-(2-(N-methylpyrrolidinyl))pyridine
3-(N-Methylpyrollidino)pyridine
3-(N-Methylpyrrolidino)pyridine
3-N-Methylpyrrolidine
3-[(2S)-1-methylpyrrolidin-2-yl]pyridine
36733_FLUKA
36733_RIEDEL
434F7990-3240-4A43-ACEC-E6CC1E495FA0
46343_FLUKA
46343_RIEDEL
54-11-5
AC1L3I79
AC1Q3ZOC
AI3-03424
BB_NC-0777
BIDD:GT0599
BRD-K05395900-322-02-1
Black Leaf
Black Leaf 40
C00745
CCRIS 1637
CHEBI:17688
CHEMBL3
CID89594
CPD000059074
Campbell's Nico-Soap
Caswell No. 597
Commit
D-Nicotine
D03365
DL-tetrahydronicotyrine
Destruxol
Destruxol Orchid Spray
EINECS 200-193-3
ENT 3,424
EPA Pesticide Chemical Code 056702
Emo-Nik
Flux Maag
Fumeto bac
Fumetobac
HSDB 1107
Habitrol
Habitrol (TN)
L(-)-nicotine
L-3-(1-Methyl-2-pyrrolidyl)pyridine
 
L-Nicotine
LS-202
MLS001055457
MLS001335905
Mach-Nic
Methyl-2-pyrrolidinyl)pyridine
Micotine
MolPort-000-744-731
N3876_SIGMA
N5511_FLUKA
N5511_SIGMA
NCGC00090693-01
NCGC00090693-02
NCGC00090693-03
NCGC00090693-04
NCGC00090693-05
NCGC00090693-06
NCGC00090693-07
NCT
NICOTINE AND SALTS
NSC 5065
NSC97238
Niagara P.A. Dust
Nic-Sal
Nico-Dust
Nico-Fume
Nicocide
Nicoderm
Nicoderm Cq
Nicoderm Patch
Nicorette
Nicorette Plus
Nicotin
Nicotina
Nicotina [Italian]
Nicotine
Nicotine (USP)
Nicotine (compounds related to)
Nicotine Alkaloid
Nicotine Patch
Nicotine Polacrilex
Nicotine [BSI:ISO]
Nicotine [UN1654]
Nicotine [UN1654] [Poison]
Nicotine [USAN]
Nicotrol
Nicotrol Inhaler
Nicotrol Ns
Nictoine patch
Nikotin
Nikotin [German]
Nikotyna
Nikotyna [Polish]
Ortho N-4 Dust
Ortho N-5 Dust
PDSP1_000113
PDSP1_000465
PDSP2_000463
PDSP2_000555
Prostep
R)-(+)-Nicotine
RCRA waste no. P075
RCRA waste number P075
SAM002564224
SDCCGMLS-0066911.P001
SMR000059074
Tendust
Transdermal Nicotine
UN1654
a -N-Methylpyrrolidine
a-N-Methylpyrrolidine
alpha-N-Methylpyrrolidine
beta-Pyridyl-alpha-N-methyl pyrrolidine
beta-Pyridyl-alpha-N-methylpyrrolidine
bmse000105
delta-Nicotine
nicotine
nicotine replacement patch
2
protease inhibitorsPhase 1, Phase 25157
Synonyms:
 
protease inhibitors
3serineNutraceuticalPhase 1, Phase 2883
4
Warfarin44181-81-26691, 54678486
Synonyms:
(-)-Warfarin
(S)-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2-benzopyrone
(S)-Warfarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin
(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarine
1-(4'-Hydroxy-3'-coumarinyl)-1-phenyl-3-butanone
200 Coumarin
200 coumarin
3-(1'-Phenyl-2'-acetylethyl)-4-hydroxycoumarin
3-(Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Acetonylbenzyl)-4-hydroxycoumarin
3-(alpha-Phenyl-beta-acetylaethyl)-4-hydroxycumarin
3-(alpha-Phenyl-beta-acetylethyl)-4-hydroxycoumarin
4-Hydroxy-3- (3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3- (3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-fenyl-butyl) cumarine
4-Hydroxy-3-(3-oxo-1-phenyl-butyl)-cumarin
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)-2H-chromen-2-one
4-Hydroxy-3-(3-oxo-1-phenylbutyl)coumarin
4-Idrossi-3- (3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-)-fenil-butil)-cumarine
4-Idrossi-3-(3-oxo-1-fenil-butil)-cumarine
45706_FLUKA
45706_RIEDEL
4oh-coumarin deriv.
5543-56-6
5543-57-7
81-81-2
A2250_FLUKA
A2250_SIGMA
AC-15978
AC1L1N37
AC1Q6AN3
AR-1E2310
Arab Rat Death
Arab rat death
Arab rat deth
Athrombin
Athrombin-K
Athrombin-k
Athrombine-K
Athrombine-k
BRD-A24514565-001-02-2
BRD-A24514565-236-01-6
BRN 1293536
BSPBio_002026
Bio-0586
Brumolin
C01541
C19H16O4
CBDivE_002127
CBDivE_013236
CBKinase1_000192
CBKinase1_012592
CHEBI:10033
CHEMBL1464
CID6691
CO-Rax
Caswell No. 903
Choice
Choice (TN)
Co-Rax
Co-rax
Compound 42
Coumadin
Coumadin Tabs
Coumafen
Coumafene
Coumafene [French]
Coumaphen
Coumaphene
Coumarins
Coumefene
Cov-R-Tox
Cov-R-tox
D-Con
D08682
DB00682
DL-3-(alpha-acetonylbenzyl)-4-hydroxycoumarin
Dethmor
Dethnel
Dicusat E
Dicusat e
DivK1c_000444
EINECS 201-377-6
EINECS 226-907-3
EPA Pesticide Chemical Code 086002
Eastern states duocide
Fasco fascrat powder
Frass-Ratron
Frass-ratron
HMS1921K07
HMS2092C20
HMS501G06
HSDB 1786
I14-0958
IDI1_000444
Jantoven
KBio1_000444
KBio2_000674
KBio2_003242
KBio2_005810
KBio3_001526
KBioGR_000901
KBioSS_000674
Killgerm sewarin p
Kumader
Kumadu
Kumatox
Kypfarin
LS-55083
Latka 42
Latka 42 [Czech]
Liqua-tox
MLS001304042
Maag Rattentod Cum
Maag rattentod cum
Mar-Frin
Mar-frin
Marevan
Martin'S mar-frin
Martin's mar-frin
 
Maveran
MolPort-001-787-822
Mouse pak
NCGC00094810-01
NCGC00094810-02
NCGC00159398-03
NCGC00178855-01
NINDS_000444
NSC 59813
NSC59813
PS104_SUPELCO
Panwarfin
Place-Pax
Place-pax
Prothromadin
RAX
RCR grey squirrel killer concentrate
RCRA waste no. P001
Rat & mice bait
Rat and mice bait
Rat-B-gon
Rat-Gard
Rat-Kill
Rat-Mix
Rat-O-cide #2
Rat-O-cide no. 2
Rat-Ola
Rat-Trol
Rat-a-way
Rat-alpha-way
Rat-b-gon
Rat-beta-gon
Rat-gard
Rat-kill
Rat-mix
Rat-o-cide #2
Rat-ola
Rat-trol
Ratorex
Ratox
Ratoxin
Ratron
Ratron G
Ratron g
Rats-no-more
Ratten-Koederrohr
Ratten-koederrohr
Rattenstreupulver Neu Schacht
Rattenstreupulver neu schacht
Rattenstreupulver new schacht
Rattentraenke
Rattunal
Rcra waste number P001
Ro-Deth
Ro-deth
Rodafarin
Rodafarin C
Rodafarin c
Rodex
Rodex blox
Rosex
Rough & ready mouse mix
Rough and ready mouse mix
SMP1_000316
SMR000718754
SPBio_000870
SPECTRUM1500613
STK364490
Sakarat
Sewarin
Sofarin
Solfarin
Sorexa Plus
Sorexa plus
Spectrum2_000935
Spectrum3_000583
Spectrum4_000381
Spectrum5_001751
Spectrum_000194
Spray-trol brand roden-trol
Temus W
Temus w
Tintorane
Tox-Hid
Tox-hid
Twin light rat away
UNII-5Q7ZVV76EI
Vampirinip II
Vampirinip III
Vampirinip iii
W.A.R.F. 42
WARF compound 42
WLN: T66 BOVJ DYR&1V1 EQ
Waran
Warf 10
Warf 42
Warfarat
Warfarin (INN)
Warfarin (and salts of)
Warfarin Plus
Warfarin Q
Warfarin [BSI:ISO]
Warfarin [INN:BAN]
Warfarin plus
Warfarin plus [discontinued]
Warfarin sodium
Warfarin titrated to an INR of 2.5-3.0
Warfarin(R)
Warfarina
Warfarina [INN-Spanish]
Warfarine
Warfarine [INN-French]
Warfarine [ISO-French]
Warfarinum
Warfarinum [INN-Latin]
Warficide
Warfilone
Zoocoumarin
Zoocoumarin [Netherlands and USSR]
Zoocoumarin [Russian]
delta-Con
nchembio.307-comp19
rac-Warfarin
warfarin

Interventional clinical trials:

idNameStatusNCT IDPhase
1Tobacco Approach Avoidance Training for Adolescent Smokers-1CompletedNCT01625767Phase 2
2Single Dose Administration of Alpha-1 Anti-Trypsin for the Amelioration of Organ Injury in Patients Undergoing Cardiac SurgeryNot yet recruitingNCT02191839Phase 1, Phase 2
3Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic AneurysmRecruitingNCT02256163
4Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
5Brazilian Registry of Acute SItuations in Emergency Department - BRASIED RegistryRecruitingNCT02753023
6Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
7Exercise 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.RecruitingNCT02018835
8National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165

Search NIH Clinical Center for Familial Thoracic Aortic Aneurysm and Dissection

Genetic Tests for Familial Thoracic Aortic Aneurysm and Dissection

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Genetic tests related to Familial Thoracic Aortic Aneurysm and Dissection:

id Genetic test Affiliating Genes
1 Congenital Aneurysm of Ascending Aorta25

Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

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

34
Heart, Testes

Animal Models for Familial Thoracic Aortic Aneurysm and Dissection or affiliated genes

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7SMAD3, TGFBR1, TGFBR2
2MP:00053878.2FBN1, SMAD3, TGFBR1, TGFBR2
3MP:00053808.1FBN1, SMAD3, TGFBR1, TGFBR2
4MP:00053978.0FBN1, SMAD3, TGFBR1, TGFBR2
5MP:00053908.0FBN1, SMAD3, TGFBR1, TGFBR2
6MP:00053857.7FBN1, SMAD3, TGFBR1, TGFBR2

Publications for Familial Thoracic Aortic Aneurysm and Dissection

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Articles related to Familial Thoracic Aortic Aneurysm and Dissection:

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

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Expression for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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

Pathways for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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

(show all 42)
idSuper pathwaysScoreTop Affiliating Genes
19.4TGFBR1, TGFBR2
29.4TGFBR1, TGFBR2
39.4TGFBR1, TGFBR2
49.4TGFBR1, TGFBR2
5
Show member pathways
9.4TGFBR1, TGFBR2
69.4TGFBR1, TGFBR2
7
Show member pathways
9.4TGFBR1, TGFBR2
89.1SMAD3, TGFBR1
99.1SMAD3, TGFBR1
10
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
11
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
12
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
13
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
148.6SMAD3, TGFBR1, TGFBR2
15
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
16
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
17
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
18
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
198.6SMAD3, TGFBR1, TGFBR2
208.6SMAD3, TGFBR1, TGFBR2
218.6SMAD3, TGFBR1, TGFBR2
228.6SMAD3, TGFBR1, TGFBR2
238.6SMAD3, TGFBR1, TGFBR2
24
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
25
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
26
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
278.6SMAD3, TGFBR1, TGFBR2
28
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
298.6SMAD3, TGFBR1, TGFBR2
30
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
318.6SMAD3, TGFBR1, TGFBR2
328.6SMAD3, TGFBR1, TGFBR2
338.6SMAD3, TGFBR1, TGFBR2
348.6SMAD3, TGFBR1, TGFBR2
358.6SMAD3, TGFBR1, TGFBR2
36
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
37
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
38
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
398.6SMAD3, TGFBR1, TGFBR2
40
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
41
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
42
Show member pathways
8.0FBN1, SMAD3, TGFBR1, TGFBR2

GO Terms for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:00700229.1TGFBR1, TGFBR2
2receptor complexGO:00432358.6SMAD3, TGFBR1, TGFBR2

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.1TGFBR1, TGFBR2
2pathway-restricted SMAD protein phosphorylationGO:006038910.0TGFBR1, TGFBR2
3signal transduction by protein phosphorylationGO:002301410.0TGFBR1, TGFBR2
4response to cholesterolGO:007072310.0TGFBR1, TGFBR2
5ventricular septum morphogenesisGO:006041210.0TGFBR1, TGFBR2
6peptidyl-threonine phosphorylationGO:001810710.0TGFBR1, TGFBR2
7activin receptor signaling pathwayGO:00329249.7SMAD3, TGFBR1
8lens development in camera-type eyeGO:00020889.7TGFBR1, TGFBR2
9kidney developmentGO:00018229.7FBN1, TGFBR1
10positive regulation of stress fiber assemblyGO:00514969.6SMAD3, TGFBR1
11palate developmentGO:00600219.5TGFBR1, TGFBR2
12cellular response to transforming growth factor beta stimulusGO:00715609.5FBN1, TGFBR1
13cell cycle arrestGO:00070509.5SMAD3, TGFBR1
14gastrulationGO:00073699.5SMAD3, TGFBR2
15heart loopingGO:00019479.4SMAD3, TGFBR2
16peptidyl-serine phosphorylationGO:00181059.3TGFBR1, TGFBR2
17transforming growth factor beta receptor signaling pathwayGO:00071799.1SMAD3, TGFBR1, TGFBR2
18in utero embryonic developmentGO:00017019.0SMAD3, TGFBR1, TGFBR2
19positive regulation of epithelial to mesenchymal transitionGO:00107189.0SMAD3, TGFBR1, TGFBR2
20embryonic cranial skeleton morphogenesisGO:00487018.8SMAD3, TGFBR1, TGFBR2
21negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305128.8SMAD3, TGFBR1, TGFBR2
22wound healingGO:00420608.6SMAD3, TGFBR1, TGFBR2
23skeletal system developmentGO:00015018.6FBN1, SMAD3, TGFBR1
24heart developmentGO:00075078.5FBN1, TGFBR1, TGFBR2

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00050249.8TGFBR1, TGFBR2
2receptor signaling protein serine/threonine kinase activityGO:00047029.7TGFBR1, TGFBR2
3transforming growth factor beta bindingGO:00504319.6TGFBR1, TGFBR2
4SMAD bindingGO:00463328.6SMAD3, TGFBR1, TGFBR2

Sources for Familial Thoracic Aortic Aneurysm and Dissection

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet