MCID: THR027
MIFTS: 45

Thoracic Aortic Aneurysms and Aortic Dissections malady

Category: Genetic diseases (common)

Aliases & Classifications for Thoracic Aortic Aneurysms and Aortic Dissections

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Aliases & Descriptions for Thoracic Aortic Aneurysms and Aortic Dissections:

Name: Thoracic Aortic Aneurysms and Aortic Dissections 24 27
Thoracic Aortic Aneurysms and Dissection 24
 
Thoracic Aortic Dissection 24
Taad 24

Classifications:



Summaries for Thoracic Aortic Aneurysms and Aortic Dissections

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MalaCards based summary: Thoracic Aortic Aneurysms and Aortic Dissections, also known as thoracic aortic aneurysms and dissection, is related to prkg1-related thoracic aortic aneurysms and aortic dissections and acta2-related thoracic aortic aneurysms and aortic dissections. An important gene associated with Thoracic Aortic Aneurysms and Aortic Dissections is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways are Glypican 1 network and ALK1 signaling events. Affiliated tissues include endothelial, testes and lung, and related mouse phenotypes are Transferrin accumulation in the perinuclear area and Decreased shRNA abundance (Z-score < -2).

Related Diseases for Thoracic Aortic Aneurysms and Aortic Dissections

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Diseases in the Thoracic Aortic Aneurysms and Aortic Dissections family:

Prkg1-Related Thoracic Aortic Aneurysms and Aortic Dissections Acta2-Related Thoracic Aortic Aneurysms and Aortic Dissections
Fbn1-Related Thoracic Aortic Aneurysms and Aortic Dissections Mfap5-Related Thoracic Aortic Aneurysms and Aortic Dissections
Myh11-Related Thoracic Aortic Aneurysms and Aortic Dissections Mylk-Related Thoracic Aortic Aneurysms and Aortic Dissections
Smad3-Related Thoracic Aortic Aneurysms and Aortic Dissections Tgfbr1-Related Thoracic Aortic Aneurysms and Aortic Dissections
Tgfbr2-Related Thoracic Aortic Aneurysms and Aortic Dissections

Diseases related to Thoracic Aortic Aneurysms and Aortic Dissections via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1prkg1-related thoracic aortic aneurysms and aortic dissections12.3
2acta2-related thoracic aortic aneurysms and aortic dissections12.3
3fbn1-related thoracic aortic aneurysms and aortic dissections12.3
4mfap5-related thoracic aortic aneurysms and aortic dissections12.3
5myh11-related thoracic aortic aneurysms and aortic dissections12.3
6mylk-related thoracic aortic aneurysms and aortic dissections12.3
7smad3-related thoracic aortic aneurysms and aortic dissections12.3
8tgfbr1-related thoracic aortic aneurysms and aortic dissections12.3
9tgfbr2-related thoracic aortic aneurysms and aortic dissections12.3
10familial thoracic aortic aneurysm and dissection11.3
11celiac trunk compression syndrome10.5TGFBR1, TGFBR2
12chromophil adenoma of the kidney10.5TGFBR1, TGFBR2
13granulomatous myositis10.4MYH11, TGFBR2
14deletion 5q3510.3COL3A1, FBN1
15tgfbr1-related loeys-dietz syndrome10.3TGFB2, TGFB3
16thoracic aortic aneurysm10.3
17aortic aneurysm10.3
18aneurysm10.3
19loeys-dietz syndrome 410.3TGFB2, TGFB3
20holoprosencephaly10.2TGFB2, TGFBR1, TGFBR2
21idiopathic corneal edema10.1FBN1, TGFB2, TGFB3
22functional diarrhea10.1CBS, FBN1
23herpetic gastritis10.1FBN1, TGFB2, TGFB3
24pulmonary venous return anomaly10.1FBN1, SMAD3, TGFBR1, TGFBR2
25acromicric dysplasia10.1FBN1, TGFB2
26renal clear cell carcinoma10.1TGFB2, TGFB3
27strawberry gallbladder10.1TGFB2, TGFB3
28hodgkin's lymphoma, lymphocytic-histiocytic predominance10.1COL3A1, FBN1, PLOD1
29macrocephaly mesodermal hamartoma spectrum10.0TGFBR1, TGFBR2
30twin-to-twin transfusion syndrome10.0SMAD3, TGFB2, TGFB3
31pneumonia9.9
32malignant struma ovarii9.8ACTA2, FBN1, TGFB2, TGFBR1, TGFBR2
33adenosine monophosphate deaminase deficiency erythrocyte type9.7SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
34spinal cancer9.5BGN, FBN1, FBN2, TGFBR2
35epidemic typhus9.3ACTA2, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1
36ectopia lentis, familial9.3ACTA2, CBS, FBN1, FBN2, TGFBR1, TGFBR2
37udd distal myopathy9.1ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3
38brucella canis brucellosis8.8ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3
39anoxia8.7ACTA2, COL3A1, MYH11, MYLK, PRKG1, SMAD3
40childhood spinal cord tumor8.5ACTA2, COL3A1, FBN1, MYH11, MYLK, PRKG1

Graphical network of the top 20 diseases related to Thoracic Aortic Aneurysms and Aortic Dissections:



Diseases related to thoracic aortic aneurysms and aortic dissections

Symptoms & Phenotypes for Thoracic Aortic Aneurysms and Aortic Dissections

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GenomeRNAi Phenotypes related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00356-A-39.7MYLK, PRKG1, TGFBR1
2GR00366-A-589.1PRKG1, TGFB2, TGFBR1, TGFBR2
3GR00381-A-17.1COL3A1, MYLK, PRKG1, TGFBR1, TGFBR2, COL3A1

MGI Mouse Phenotypes related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

41 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3BGN, COL3A1, FBN1, MYH11, PLOD1, SMAD3
2MP:00053828.2BGN, FBN1, SMAD3, TGFB2, TGFB3, TGFBR2
3MP:00053888.0COL3A1, FBN1, FBN2, MYH11, SLC2A10, TGFB2
4MP:00053717.8BGN, FBN1, FBN2, PLOD1, SMAD3, TGFB2
5MP:00053677.2FBN1, MYH11, MYLK, PRKG1, SLC2A10, SMAD3
6MP:00053846.8BGN, COL3A1, FBN1, FBN2, MYH11, PRKG1
7MP:00053876.7BGN, COL3A1, FBN1, MYLK, PRKG1, SLC2A10
8MP:00053866.7BGN, FBN1, FBN2, MYLK, PLOD1, PRKG1
9MP:00053816.6COL3A1, MYH11, MYLK, PRKG1, SMAD3, TGFB2
10MP:00053906.5BGN, FBN1, FBN2, MYLK, PLOD1, SMAD3
11MP:00053696.5ACTA2, BGN, COL3A1, FBN1, FBN2, MYH11
12MP:00053786.2BGN, COL3A1, FBN1, FBN2, MYH11, MYLK
13MP:00053766.1BGN, COL3A1, FBN1, MYH11, MYLK, PRKG1
14MP:00107685.4BGN, COL3A1, FBN1, FBN2, MYH11, MYLK
15MP:00053855.1ACTA2, COL3A1, FBN1, FBN2, MYH11, MYLK

Drugs & Therapeutics for Thoracic Aortic Aneurysms and Aortic Dissections

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Drugs for Thoracic Aortic Aneurysms and Aortic Dissections (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetazolamideapproved, vet_approvedPhase 47559-66-51986
Synonyms:
1424-27-7 (mono-hydrochloride salt)
1yda
1ydb
1ydd
1zsb
2-acetylamino-1,3,4-Thiadiazole-5-sulfonamide
2h4n
3czv
4-Diamox
5-ACETAMIDO-1,3,4-thiadiazole-2-sulfonamide
5-acetylamino-1,3,4-Thiadiazole-2-sulfonamide
5661-25-6
59-66-5
8017-69-4
A 6011
A6011_SIAL
A6011_SIGMA
AB00051906
AC-12779
AC1L1CO5
AI3-52458
AKOS000715163
Acetadiazol
Acetamidothiadiazolesulfonamide
Acetamox
Acetazolam
Acetazolamid
Acetazolamida
Acetazolamida [INN-Spanish]
Acetazolamide (AAZ)
Acetazolamide (JP15/USP/INN)
Acetazolamide Apotex Brand
Acetazolamide Chiesi Brand
Acetazolamide Dioptic Brand
Acetazolamide Grin Brand
Acetazolamide ICN Brand
Acetazolamide Jumer Brand
Acetazolamide Llorens Brand
Acetazolamide Medphano Brand
Acetazolamide Novopharm Brand
Acetazolamide Orion Brand
Acetazolamide Sodium
Acetazolamide Sodium, (Sterile)
Acetazolamide Wassermann Brand
Acetazolamide [INN:BAN:JAN]
Acetazolamide, Monosodium Salt
Acetazolamidum
Acetazolamidum [INN-Latin]
Acetazolamine
Acetazoleamide
Acetozalamide
Acétazolamide
Ak Zol
Ak-Zol
AkZol
Apo Acetazolamide
Apo-Acetazolamide
ApoAcetazolamide
Apotex Brand of Acetazolamide
Atenezol
BAS 01585728
BIDD:GT0643
BPBio1_000007
BSPBio_000005
BSPBio_001788
C06805
C4H6N4O3S2
CAS-59-66-5
CCRIS 5811
CHEBI:27690
CHEMBL20
CID1986
CPD0-1626
CPD000058394
Carbonic Anhydrase Inhibitor 6063
Carbonic Anhydrase Inhibitor No. 6063
Carbonic anhydrase inhibitor 6063
Chiesi Brand of Acetazolamide
Ciba Vision Brand of Acetazolamide
Cidamex
D000086
D00218
DB00819
Dazamide
Defiltran
Dehydratin
Diacarb
Diakarb
Diamox
Diamox (TN)
Diamox Sequels
Didoc
Diluran
 
Dioptic Brand of Acetazolamide
Diuramid
Diuramide
Diureticum-Holzinger
Diureticum-holzinger
Diuriwas
Diutazol
DivK1c_000017
Donmox
Duiramid
EINECS 200-440-5
EU-0100039
Edemox
Eumicton
Fonurit
Glauconox
Glaumox
Glaupax
Glupax
Grin Brand of Acetazolamide
HMS1568A07
HMS1920A05
HMS2091G05
HMS500A19
HSDB 3002
Huma Zolamide
Huma-Zolamide
HumaZolamide
I09-0425
ICN Brand of Acetazolamide
IDI1_000017
Jumer Brand of Acetazolamide
KBio1_000017
KBio2_000358
KBio2_002926
KBio2_005494
KBio3_001288
KBioGR_000558
KBioSS_000358
LS-10227
Llorens Brand of Acetazolamide
Lopac-A-6011
Lopac0_000039
MLS000028435
MLS001148438
Medphano Brand of Acetazolamide
MolPort-001-783-578
Monosodium Salt Acetazolamide
N-[5-(Aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide
N-[5-(Aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide
NCGC00015074-01
NCGC00015074-02
NCGC00015074-03
NCGC00015074-06
NCGC00015074-11
NCGC00023455-03
NCGC00023455-04
NCGC00023455-05
NCGC00023455-06
NCGC00023455-07
NINDS_000017
NSC 145177
NSC145177
Natrionex
Nephramid
Nephramide
Novopharm Brand of Acetazolamide
Orion Brand of Acetazolamide
Phonurit
Prestwick0_000003
Prestwick1_000003
Prestwick2_000003
Prestwick3_000003
Prestwick_4
SAM002554883
SBB056640
SK-acetazolamide
SMR000058394
SPBio_000004
SPBio_001926
SPECTRUM1500102
Sk-Acetazolamide
Spectrum2_000082
Spectrum3_000284
Spectrum4_000139
Spectrum5_000738
Spectrum_000018
Storz Brand of Acetazolamide Preparation
Storzolamide
UNII-O3FX965V0I
Vetamox
WLN: T5NN DSJ CSZW EMV1
Wassermann Brand of Acetazolamide
Wyeth Brand of Acetazolamide Preparation
acetazolamide
2
Dexmedetomidineapproved, vet_approvedPhase 454076631-46-4, 113775-47-668602, 5311068, 56032
Synonyms:
(+)-4-((S)-alpha,2,3-Trimethylbenzyl)imidazole
(+)-4-((S)-alpha,2,3-trimethylbenzyl)imidazole
(+)-medetomidine
(S)-medetomidine
113775-47-6
4-[(1S)-1-(2,3-Dimethylphenyl)ethyl]-1H-imidazole
4-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
5-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
AC1NSJXT
C07450
CHEBI:4466
CHEMBL778
CID5311068
D00514
DEXMEDETOMIDINE
 
Dexdor (T)
Dexmedetomidin
Dexmedetomidina
Dexmedetomidine
Dexmedetomidine (USAN/INN)
Dexmedetomidinum
Dexmédétomidine
MPV 1440
MPV-1440
Medetomidina [Spanish]
Medetomidine
Medetomidinum [Latin]
NCGC00025347-01
PRECEDEX
Precedex (TN)
Tocris-2023
ZINC04632106
3Natriuretic AgentsPhase 41645
4Carbonic Anhydrase InhibitorsPhase 4179
5AnticonvulsantsPhase 42620
6diureticsPhase 41372
7Antigen-Antibody ComplexPhase 48
8Central Nervous System DepressantsPhase 412806
9AnestheticsPhase 49001
10Peripheral Nervous System AgentsPhase 422776
11Hypnotics and SedativesPhase 42485
12Neurotransmitter AgentsPhase 417734
13Adrenergic alpha-AgonistsPhase 41625
14Adrenergic AgentsPhase 45140
15Analgesics, Non-NarcoticPhase 46260
16Adrenergic AgonistsPhase 42877
17Adrenergic alpha-2 Receptor AgonistsPhase 4911
18AnalgesicsPhase 411287
19
Warfarinapproved45481-81-26691, 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
20
Ethylene3274-85-16325
Synonyms:
Acetene
Athylen
Bicarburretted hydrogen
Elayl
Ethene
Ethene (9CI)
Ethene, 9CI
Ethylene (8CI)
 
Ethylene, compressed [UN1962] [Flammable gas]
Ethylene, pure
Ethylene-CMPD
Etileno
Liquid ethyene
Liquid ethylene
Olefiant gas
Plastipore
Polyethylene as med mol. WT.

Interventional clinical trials:

(show all 43)
idNameStatusNCT IDPhase
1Effectiveness of Acetazolamide in Reducing Paralysis of the Leg in Patients Undergoing Aortic Aneurysm Surgery SurgeryUnknown statusNCT01889498Phase 4
2Vasculopathic Injury and Plasma as Endothelial Rescue - OCTAplas Trial (EudraCT no. 2014-000452-28)CompletedNCT02253082Phase 4
3Endovascular Repair of Descending Thoracic Aortic AneurysmsCompletedNCT00802984Phase 4
4Effect of Intraoperative Dexmedetomidine on LungNot yet recruitingNCT02678728Phase 4
5Long-term Benefit of Aortic Stent-graft in Patients With Distal Aortic DissectionTerminatedNCT01354119Phase 4
6ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNiqueWithdrawnNCT01107366Phase 4
7To Evaluate the Safety and Efficacy for GORE TAG Thoracic Endoprosthesis in the Treatment of Thoracic Aortic DiseaseCompletedNCT00757003Phase 3
8Evaluation of the Vascutek Hybrid Graft for Use in the Replacement of the Aortic Arch and Concomitant Treatment of an Aneurysm/Dissection of the Descending Aorta in the Frozen Elephant Trunk ProcedureCompletedNCT01541410Phase 1, Phase 2
9Endovascular Exclusion of Thoracic Aortic AneurysmsRecruitingNCT00583817Phase 1
10Clinical Study of Thoracic Aortic Aneurysm ExclusionUnknown statusNCT00549315
11The Epidemiology of Aortic Diameter in ChinaUnknown statusNCT00820378
12National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165
13Point-of-Care Focused Cardiac Ultrasound in Assessing the Thoracic AortaCompletedNCT01671618
14Post Market Surveillance Study Evaluating BioFoam Surgical Matrix in Cardiovascular SurgeryCompletedNCT02164201
15Risk Factors for Aortic Dissection in the Chinese PatientsCompletedNCT02267941
16Noninvasive Neuromonitoring of Surgery of the Thoracic AortaCompletedNCT02876263
17Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and DissectionRecruitingNCT02852603
18Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study.RecruitingNCT02204774
19Hybrid Operation in Thoracic Aortic DissectionRecruitingNCT01500395
20A Registry Study on Genetics and Biomarkers of Thoracic Aortic Aneurysm/DissectionRecruitingNCT03010514
21Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic LesionsRecruitingNCT00597870
22Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
23Genetic Risks for Bicuspid Aortic Valve DiseaseRecruitingNCT01823432
24Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort StudyRecruitingNCT02010892
25Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
26Endovascular Aortic Repair for Aortic DissectionRecruitingNCT01505309
27Feasibility of Endovascular Repair Of Ascending Aortic PathologiesRecruitingNCT02201589
28International Bicuspid Aortic Valve Consortium (BAVCon)RecruitingNCT01980797
29Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
30Evaluation of the GORE® TAG® Thoracic Branch Endoprosthesis (TBE Device) in the Treatment of Lesions of the Aortic Arch and Descending Thoracic Aorta (Zone 2)RecruitingNCT02777593
31Evaluation of the GORE® TAG® Thoracic Branch Endoprosthesis (TBE Device) in the Treatment of Lesions of the Aortic Arch and Descending Thoracic Aorta (Zone 0/1)RecruitingNCT02777528
32GORE® TAG® Thoracic Endoprosthesis French Mandatory RegistryRecruitingNCT02266342
33Visceral Manifold and Unitary Device Study for the Repair of Thoracoabdominal Aortic AneurysmsRecruitingNCT02294435
34Exercise 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
35Cardiovascular Health Improvement ProjectRecruitingNCT02306200
36Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
37Prospective Follow-up Study of the Aortic Diameter in Patients With Giant Cell ArteritisRecruitingNCT01588483
38Registry Of Acute meDical Emergencies in BrazilRecruitingNCT02753023
39Valiant Thoracic Stent Graft With the Captivia Delivery System in the Treatment of Descending Thoracic Aortic Diseases (VALIANT CAPTIVIA France)Active, not recruitingNCT01775046
40Study to Evaluate the Clinical Performance of the Valiant Thoracic Stent Graft With the Captivia Delivery System (Valiant Captivia) for the Treatment of Acute, Complicated Type B Aortic DissectionsActive, not recruitingNCT01114724
41Thoraflex™ Hybrid IDE StudyEnrolling by invitationNCT02724072
42Evaluation of Valiant Mona LSASuspendedNCT02365467
43VALIANT CAPTIVIA Post-market RegistryTerminatedNCT01181947

Search NIH Clinical Center for Thoracic Aortic Aneurysms and Aortic Dissections

Genetic Tests for Thoracic Aortic Aneurysms and Aortic Dissections

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Genetic tests related to Thoracic Aortic Aneurysms and Aortic Dissections:

id Genetic test Affiliating Genes
1 Thoracic Aortic Aneurysm and Aortic Dissection27
2 Thoracic Aortic Aneurysms and Aortic Dissections24 TGFBR2

Anatomical Context for Thoracic Aortic Aneurysms and Aortic Dissections

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MalaCards organs/tissues related to Thoracic Aortic Aneurysms and Aortic Dissections:

36
Endothelial, Testes, Lung

Publications for Thoracic Aortic Aneurysms and Aortic Dissections

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Articles related to Thoracic Aortic Aneurysms and Aortic Dissections:

idTitleAuthorsYear
1
Ruptured thoracic aortic aneurysm and aortic dissection are entirely different entities. (25561704)
2015
2
Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. (21909107)
2011
3
Persistent Chlamydophila pneumoniae infection in thoracic aortic aneurysm and aortic dissection? (20384541)
2010
4
Genetic basis of thoracic aortic aneurysms and aortic dissections. (16273536)
2005
5
Thoracic aortic aneurysm and aortic dissection: new endoscopic mode for three-dimensional CT display of aorta. (8596868)
1996
6
Thoracic Aortic Aneurysms and Aortic Dissections (20301299)
1993

Variations for Thoracic Aortic Aneurysms and Aortic Dissections

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Clinvar genetic disease variations for Thoracic Aortic Aneurysms and Aortic Dissections:

5 (show all 126)
id Gene Variation Type Significance SNP ID Assembly Location
1COL3A1NM_000090.3(COL3A1): c.1662+1G> A (p.Gly537_Pro554del)SNVPathogenicrs587779535GRCh37Chr 2, 189860905: 189860905
2COL3A1NM_000090.3(COL3A1): c.2959G> A (p.Gly987Ser)SNVPathogenicrs587779583GRCh37Chr 2, 189870103: 189870103
3COL3A1NM_000090.3(COL3A1): c.970G> A (p.Gly324Ser)SNVLikely pathogenic, Pathogenicrs587779650GRCh37Chr 2, 189856928: 189856928
4COL3A1NM_000090.3(COL3A1): c.2096G> A (p.Gly699Asp)SNVPathogenicrs587779706GRCh37Chr 2, 189864084: 189864084
5CBSNM_000071.2(CBS): c.833T> C (p.Ile278Thr)SNVPathogenicrs5742905GRCh37Chr 21, 44483184: 44483184
6TGFBR2NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys)SNVPathogenicrs104893811GRCh37Chr 3, 30715720: 30715720
7TGFBR2NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)SNVLikely pathogenic, Pathogenicrs104893819GRCh37Chr 3, 30729962: 30729962
8TGFBR1NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu)SNVLikely pathogenic, Pathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
9TGFBR1NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp)SNVPathogenicrs111426349GRCh37Chr 9, 101911534: 101911534
10CBSNM_000071.2(CBS): c.502G> A (p.Val168Met)SNVPathogenicrs121964970GRCh37Chr 21, 44485755: 44485755
11CBSNM_000071.2(CBS): c.1058C> T (p.Thr353Met)SNVLikely pathogenic, Pathogenicrs121964972GRCh37Chr 21, 44480638: 44480638
12MYH11NM_001040113.1(MYH11): c.3845G> T (p.Arg1282Leu)SNVPathogenicrs267606901GRCh37Chr 16, 15820739: 15820739
13MYH11NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln)SNVLikely pathogenic, Pathogenicrs267606902GRCh37Chr 16, 15841949: 15841949
14SLC2A10NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter)SNVPathogenicrs756457861GRCh38Chr 20, 46725721: 46725721
15SLC2A10NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln)SNVLikely pathogenic, Pathogenicrs771028960GRCh38Chr 20, 46725728: 46725728
16SLC2A10NM_030777.3(SLC2A10): c.313C> T (p.Arg105Cys)SNVLikely pathogenic, Pathogenicrs767864243GRCh38Chr 20, 46725349: 46725349
17FBN2NM_001999.3(FBN2): c.3430G> A (p.Glu1144Lys)SNVPathogenicrs200060005GRCh38Chr 5, 128338975: 128338975
18FBN1NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr)SNVLikely pathogenic, Pathogenicrs727503054GRCh37Chr 15, 48712949: 48712949
19FBN1NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter)SNVPathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
20FBN1NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)SNVPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
21FBN1NM_000138.4(FBN1): c.6354C> T (p.Ile2118=)SNVLikely pathogenic, Pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
22FBN1NM_000138.4(FBN1): c.1453C> T (p.Arg485Cys)SNVPathogenicrs137854485GRCh37Chr 15, 48807599: 48807599
23FBN1NM_000138.4(FBN1): c.1285C> T (p.Arg429Ter)SNVPathogenicrs112645512GRCh38Chr 15, 48516225: 48516225
24ACTA2NM_001613.2(ACTA2): c.445C> T (p.Arg149Cys)SNVPathogenicrs121434526GRCh37Chr 10, 90701551: 90701551
25ACTA2NM_001613.2(ACTA2): c.772C> T (p.Arg258Cys)SNVLikely pathogenic, Pathogenicrs121434528GRCh37Chr 10, 90699300: 90699300
26COL3A1NM_000090.3(COL3A1): c.1241G> T (p.Gly414Val)SNVPathogenicrs794728044GRCh37Chr 2, 189859006: 189859006
27FBN1NM_000138.4(FBN1): c.813C> A (p.Cys271Ter)SNVPathogenicrs765692335GRCh38Chr 15, 48534129: 48534129
28FBN1NM_000138.4(FBN1): c.1693C> T (p.Arg565Ter)SNVPathogenicrs113422242GRCh38Chr 15, 48510065: 48510065
29FBN1NM_000138.4(FBN1): c.2861G> A (p.Arg954His)SNVLikely pathogenic, Pathogenicrs112911555GRCh38Chr 15, 48490072: 48490072
30FBN1NM_000138.4(FBN1): c.2953G> A (p.Gly985Arg)SNVLikely pathogenic, Pathogenicrs794728199GRCh38Chr 15, 48489980: 48489980
31FBN1NM_000138.4(FBN1): c.3344A> G (p.Asp1115Gly)SNVLikely pathogenic, Pathogenicrs794728203GRCh38Chr 15, 48487431: 48487431
32FBN1NM_000138.4(FBN1): c.5197T> G (p.Cys1733Gly)SNVPathogenicrs794728235GRCh38Chr 15, 48463109: 48463109
33FBN1NM_000138.4(FBN1): c.6169C> T (p.Arg2057Ter)SNVPathogenicrs763091520GRCh38Chr 15, 48437912: 48437912
34FBN1NM_000138.4(FBN1): c.6871+1G> TSNVPathogenicrs794728258GRCh38Chr 15, 48430670: 48430670
35FBN1NM_000138.4(FBN1): c.7604G> A (p.Cys2535Tyr)SNVPathogenicrs794728275GRCh38Chr 15, 48421653: 48421653
36FBN1NM_000138.4(FBN1): c.7624C> T (p.Gln2542Ter)SNVPathogenicrs794728276GRCh37Chr 15, 48713830: 48713830
37FBN1NM_000138.4(FBN1): c.8226+5G> ASNVPathogenicrs193922243GRCh38Chr 15, 48412564: 48412564
38FBN1NM_000138.4(FBN1): c.8599C> T (p.Gln2867Ter)SNVPathogenicrs794728288GRCh38Chr 15, 48411007: 48411007
39FBN1NM_000138.4(FBN1): c.1191delG (p.Arg398Aspfs)deletionPathogenicrs794728295GRCh37Chr 15, 48808516: 48808516
40FBN1NM_000138.4(FBN1): c.1679dupG (p.Phe561Leufs)duplicationPathogenicrs794728297GRCh38Chr 15, 48510079: 48510079
41FBN1NM_000138.4(FBN1): c.2180dupG (p.Cys727Trpfs)duplicationPathogenicrs794728299GRCh38Chr 15, 48497379: 48497379
42FBN1NM_000138.4(FBN1): c.2569_2570delGT (p.Val857Hisfs)deletionPathogenicrs794728301GRCh38Chr 15, 48495230: 48495231
43FBN1NM_000138.4(FBN1): c.2601dupT (p.Gly868Trpfs)duplicationPathogenicrs794728302GRCh38Chr 15, 48495199: 48495199
44FBN1NM_000138.4(FBN1): c.2786_2789dupCTAG (p.Arg930Serfs)duplicationPathogenicrs794728305GRCh38Chr 15, 48492526: 48492529
45FBN1NM_000138.4(FBN1): c.3424_3427dupCCTG (p.Gly1143Alafs)duplicationPathogenicrs794728306GRCh38Chr 15, 48487348: 48487351
46FBN1NM_000138.4(FBN1): c.162delA (p.Gly55Aspfs)deletionPathogenicrs794728307GRCh38Chr 15, 48644608: 48644608
47FBN1NM_000138.4(FBN1): c.4429dupG (p.Glu1477Glyfs)duplicationPathogenicrs794728310GRCh38Chr 15, 48470664: 48470664
48FBN1NM_000138.4(FBN1): c.5957dupC (p.Gly1987Argfs)duplicationPathogenicrs794728313GRCh38Chr 15, 48444621: 48444621
49FBN1NM_000138.4(FBN1): c.6163+2dupTduplicationPathogenicrs794728315GRCh38Chr 15, 48441719: 48441719
50FBN1NM_000138.4(FBN1): c.6406_6407dupGT (p.Cys2137Serfs)duplicationPathogenicrs794728317GRCh38Chr 15, 48437050: 48437051
51FBN1NM_000138.4(FBN1): c.6722_6725dupACCG (p.Arg2243Profs)duplicationPathogenicrs794728318GRCh38Chr 15, 48432880: 48432883
52FBN1NM_000138.4(FBN1): c.8154dupT (p.Lys2719Terfs)duplicationPathogenicrs794728321GRCh38Chr 15, 48412641: 48412641
53FBN1NM_000138.4(FBN1): c.8544delA (p.Lys2848Asnfs)deletionPathogenicrs794728323GRCh38Chr 15, 48411062: 48411062
54FBN1NM_000138.4(FBN1): c.225delT (p.Gly76Alafs)deletionPathogenicrs794728324GRCh38Chr 15, 48613032: 48613032
55FBN1NM_000138.4(FBN1): c.4930C> T (p.Arg1644Ter)SNVPathogenicrs140630GRCh38Chr 15, 48465580: 48465580
56FBN1NM_000138.4(FBN1): c.1297_1300dupGAAT (p.Tyr434Terfs)duplicationPathogenicrs794728341GRCh37Chr 15, 48808407: 48808410
57MYH11NM_002474.2(MYH11): c.4578+2dupTduplicationPathogenicrs794728677GRCh38Chr 16, 15721420: 15721420
58CBSNM_000071.2(CBS): c.1105C> T (p.Arg369Cys)SNVPathogenicrs117687681GRCh37Chr 21, 44480591: 44480591
59CBSNM_000071.2(CBS): c.146C> T (p.Pro49Leu)SNVLikely pathogenic, Pathogenicrs148865119GRCh37Chr 21, 44492158: 44492158
60CBSNM_000071.2(CBS): c.325T> C (p.Cys109Arg)SNVPathogenicrs778220779GRCh38Chr 21, 43066369: 43066369
61TGFBR1NM_004612.3(TGFBR1): c.934G> A (p.Gly312Ser)SNVLikely pathogenic, Pathogenicrs760079636GRCh38Chr 9, 99142664: 99142664
62TGFBR2NM_003242.5(TGFBR2): c.1489C> T (p.Arg497Ter)SNVPathogenicrs863223852GRCh38Chr 3, 30688476: 30688476
63TGFBR2NM_003242.5(TGFBR2): c.1271A> G (p.Tyr424Cys)SNVPathogenicrs878854610GRCh37Chr 3, 30715613: 30715613
64FBN1NM_000138.4(FBN1): c.526C> T (p.Gln176Ter)SNVPathogenicrs886038766GRCh38Chr 15, 48596295: 48596295
65FBN1NM_000138.4(FBN1): c.2227delC (p.Arg743Valfs)deletionPathogenicrs886038769GRCh37Chr 15, 48789529: 48789529
66TGFBR2NM_003242.5(TGFBR2): c.1261A> G (p.Thr421Ala)SNVPathogenicrs886038787GRCh37Chr 3, 30715603: 30715603
67FBN1NM_000138.4(FBN1): c.5789-2A> GSNVPathogenicrs886038790GRCh38Chr 15, 48445506: 48445506
68TGFBR2NM_003242.5(TGFBR2): c.831G> T (p.Lys277Asn)SNVPathogenicrs886038794GRCh37Chr 3, 30713506: 30713506
69FBN1NM_000138.4(FBN1): c.8488C> T (p.Gln2830Ter)SNVPathogenicrs886038795GRCh38Chr 15, 48411118: 48411118
70FBN1NM_000138.4(FBN1): c.7C> T (p.Arg3Ter)SNVPathogenicrs886038797GRCh38Chr 15, 48644763: 48644763
71FBN1NM_000138.4(FBN1): c.8149G> T (p.Glu2717Ter)SNVPathogenicrs187553035GRCh38Chr 15, 48412646: 48412646
72FBN1NM_000138.4(FBN1): c.2725delG (p.Glu909Lysfs)deletionPathogenicrs886038804GRCh38Chr 15, 48494207: 48494207
73FBN1NM_000138.4(FBN1): c.1571delC (p.Thr524Serfs)deletionPathogenicrs886038817GRCh37Chr 15, 48805763: 48805763
74FBN1NM_000138.4(FBN1): c.5067_5073delTATGAGA (p.Asp1689Glufs)deletionPathogenicrs886038823GRCh37Chr 15, 48755430: 48755436
75FBN2NM_001999.3(FBN2): c.1804delT (p.Cys602Alafs)deletionPathogenicrs886038824GRCh38Chr 5, 128377797: 128377797
76FBN1NM_000138.4(FBN1): c.4412_4415delAGTG (p.Glu1471Valfs)deletionPathogenicrs886038846GRCh38Chr 15, 48470678: 48470681
77TGFBR2NM_003242.5(TGFBR2): c.1136A> T (p.Asp379Val)SNVPathogenicrs886038847GRCh38Chr 3, 30672319: 30672319
78FBN1NM_000138.4(FBN1): c.1211dupC (p.Pro405Thrfs)duplicationPathogenicrs886038857GRCh38Chr 15, 48516299: 48516299
79FBN1NM_000138.4(FBN1): c.7939C> T (p.Gln2647Ter)SNVPathogenicrs886038870GRCh38Chr 15, 48415648: 48415648
80COL3A1NM_000090.3(COL3A1): c.2642delC (p.Pro881Leufs)deletionPathogenicrs886038920GRCh37Chr 2, 189868494: 189868494
81COL3A1NM_000090.3(COL3A1): c.3500_3501delGTinsAA (p.Gly1167Glu)indelPathogenicrs886038925GRCh37Chr 2, 189872843: 189872844
82FBN1NM_000138.4(FBN1): c.5825G> C (p.Cys1942Ser)SNVPathogenicrs794728241GRCh37Chr 15, 48737665: 48737665
83FBN1NM_000138.4(FBN1): c.2524A> T (p.Lys842Ter)SNVPathogenicrs886038941GRCh38Chr 15, 48495484: 48495484
84FBN1NM_000138.4(FBN1): c.6884G> A (p.Cys2295Tyr)SNVPathogenicrs886038949GRCh38Chr 15, 48428459: 48428459
85TGFBR1NM_004612.3(TGFBR1): c.1302_1303dupTG (p.Asp435Valfs)duplicationPathogenicrs886038954GRCh38Chr 9, 99147700: 99147701
86FBN1NM_000138.4(FBN1): c.7092_7093delCT (p.Cys2364Trpfs)deletionPathogenicrs886038955GRCh37Chr 15, 48719875: 48719876
87FBN1NM_000138.4(FBN1): c.3209-1G> CSNVPathogenicrs886038956GRCh38Chr 15, 48488242: 48488242
88FBN1NM_000138.4(FBN1): c.6492T> A (p.Cys2164Ter)SNVPathogenicrs886038957GRCh37Chr 15, 48729162: 48729162
89FBN1NM_000138.4(FBN1): c.5720delA (p.Asn1907Thrfs)deletionPathogenicrs886038959GRCh38Chr 15, 48446774: 48446774
90FBN1NM_000138.4(FBN1): c.1807C> T (p.Gln603Ter)SNVPathogenicrs886038963GRCh37Chr 15, 48800809: 48800809
91FBN1NM_000138.4(FBN1): c.4135_4141delGACTGCA (p.Asp1379Argfs)deletionPathogenicrs886038970GRCh38Chr 15, 48474324: 48474330
92FBN1NM_000138.4(FBN1): c.1191dupG (p.Arg398Glufs)duplicationPathogenicrs886038972GRCh37Chr 15, 48808516: 48808516
93FBN1NM_000138.4(FBN1): c.2127_2130delACTCins11 (p.?)indelPathogenicrs886038973GRCh38Chr 15, 48499022: 48499025
94FBN1NM_000138.4(FBN1): c.7792C> T (p.Gln2598Ter)SNVPathogenicrs886038975GRCh38Chr 15, 48420714: 48420714
95ACTA2NM_001613.2(ACTA2): c.940C> T (p.Arg314Ter)SNVPathogenicrs886038978GRCh38Chr 10, 88938111: 88938111
96FBN1NM_000138.4(FBN1): c.4956delT (p.Cys1652Trpfs)deletionPathogenicrs886038979GRCh38Chr 15, 48464008: 48464008
97FBN1NM_000138.4(FBN1): c.3082+1G> CSNVPathogenicrs886038996GRCh38Chr 15, 48489850: 48489850
98FBN1NM_000138.4(FBN1): c.841_842insT (p.Glu281Valfs)insertionPathogenicrs886039034GRCh38Chr 15, 48534100: 48534101
99FBN1NM_000138.4(FBN1): c.4562delC (p.Pro1521Glnfs)deletionPathogenicrs886039035GRCh38Chr 15, 48468432: 48468432
100FBN1NM_000138.4(FBN1): c.439C> T (p.Gln147Ter)SNVPathogenicrs886039036GRCh38Chr 15, 48600142: 48600142
101PLOD1NM_000302.3(PLOD1): c.404_423del20 (p.Asp135Valfs)deletionPathogenicrs886039051GRCh38Chr 1, 11950458: 11950477
102FBN1NM_000138.4(FBN1): c.3159C> A (p.Cys1053Ter)SNVPathogenicrs886039054GRCh37Chr 15, 48780614: 48780614
103FBN1NM_000138.4(FBN1): c.3G> T (p.Met1Ile)SNVPathogenicrs886039072GRCh38Chr 15, 48644767: 48644767
104TGFBR2NM_003242.5(TGFBR2): c.1178G> A (p.Cys393Tyr)SNVPathogenicrs886039106GRCh37Chr 3, 30713853: 30713853
105FBN1NM_000138.4(FBN1): c.2906delT (p.Leu969Argfs)deletionPathogenicrs886039154GRCh38Chr 15, 48490027: 48490027
106FBN1NM_000138.4(FBN1): c.5536delC (p.Gln1846Serfs)deletionPathogenicrs886039167GRCh38Chr 15, 48452571: 48452571
107FBN1NM_000138.4(FBN1): c.3669T> A (p.Cys1223Ter)SNVPathogenicrs886039196GRCh38Chr 15, 48485417: 48485417
108BGNNM_001711.5(BGN): c.5G> A (p.Trp2Ter)SNVPathogenicrs886037823GRCh37Chr X, 152770094: 152770094
109BGNNM_001711.5(BGN): c.908A> C (p.Gln303Pro)SNVPathogenicrs886037824GRCh37Chr X, 152772642: 152772642
110BGNNC_000023.10: g.152767424_152787984del20561deletionPathogenicGRCh37Chr X, 152767424: 152787984
111BGNNC_000023.10: g.152768438_152795976del27539deletionPathogenicGRCh37Chr X, 152768438: 152795976
112BGNNM_001711.5(BGN): c.238G> A (p.Gly80Ser)SNVPathogenicrs886037825GRCh37Chr X, 152770327: 152770327
113ACTA2NM_001613.2(ACTA2): c.536G> A (p.Arg179His)SNVPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066
114FBN1NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter)SNVLikely pathogenic, Pathogenicrs193921256GRCh37Chr 15, 48787772: 48787772
115FBN1NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys)SNVPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
116FBN1NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr)SNVLikely pathogenic, Pathogenicrs193922228GRCh37Chr 15, 48722933: 48722933
117FBN1NM_000138.4(FBN1): c.1468+5G> ASNVPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
118FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)SNVPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
119FBN1NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter)SNVPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
120FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)SNVPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
121FBN1NM_000138.4(FBN1): c.643C> T (p.Arg215Ter)SNVPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
122ACTA2NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln)SNVLikely pathogenic, Pathogenicrs397516685GRCh37Chr 10, 90699437: 90699437
123SLC2A10NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs)deletionPathogenicrs587776600GRCh37Chr 20, 45355548: 45355548
124ACTA2NM_001141945.2(ACTA2): c.115C> T (p.Arg39Cys)SNVPathogenicrs112901682GRCh37Chr 10, 90708573: 90708573
125PRKG1NM_001098512.2(PRKG1): c.530G> A (p.Arg177Gln)SNVPathogenicrs397515330GRCh37Chr 10, 53227579: 53227579
126MYH11NM_002474.2(MYH11): c.3791T> C (p.Leu1264Pro)SNVPathogenicrs201831933GRCh38Chr 16, 15726915: 15726915

Expression for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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Search GEO for disease gene expression data for Thoracic Aortic Aneurysms and Aortic Dissections.

Pathways for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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Pathways related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 47)
idSuper pathwaysScoreTop Affiliating Genes
19.5TGFB3, TGFBR1, TGFBR2
2
Show member pathways
9.5TGFB3, TGFBR1, TGFBR2
39.5TGFB2, TGFBR1, TGFBR2
49.5TGFB2, TGFBR1, TGFBR2
59.4TGFB2, TGFB3
6
Show member pathways
9.4SMAD3, TGFBR1, TGFBR2
79.4SMAD3, TGFBR1, TGFBR2
89.4SMAD3, TGFBR1, TGFBR2
99.4SMAD3, TGFBR1, TGFBR2
109.4SMAD3, TGFBR1, TGFBR2
11
Show member pathways
9.4SMAD3, TGFBR1, TGFBR2
12
Show member pathways
9.2TGFB2, TGFB3, TGFBR1
139.2COL3A1, TGFB2, TGFB3
149.1ACTA2, MYH11, MYLK
159.0BGN, TGFB2, TGFB3
169.0COL3A1, MYLK, PRKG1
179.0TGFB2, TGFB3, TGFBR1, TGFBR2
18
Show member pathways
8.9FBN1, FBN2, TGFB2, TGFB3
198.9SMAD3, TGFB3, TGFBR1, TGFBR2
20
Show member pathways
8.9SMAD3, TGFB2, TGFBR1, TGFBR2
21
Show member pathways
8.9SMAD3, TGFB2, TGFBR1, TGFBR2
228.8ACTA2, BGN, TGFB2, TGFB3
23
Show member pathways
8.7ACTA2, MYH11, MYLK, PRKG1
248.6SMAD3, TGFB2, TGFB3, TGFBR1
25
Show member pathways
8.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
26
Show member pathways
8.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
278.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
288.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
29
Show member pathways
8.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
308.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
31
Show member pathways
8.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
32
Show member pathways
8.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
338.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
348.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
358.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
36
Show member pathways
8.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
37
Show member pathways
8.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
388.3SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
39
Show member pathways
8.1ACTA2, COL3A1, FBN1, FBN2, TGFB2, TGFB3
408.1ACTA2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
418.1COL3A1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
42
Show member pathways
8.1ACTA2, MYH11, PRKG1, TGFB2, TGFB3, TGFBR1
43
Show member pathways
7.9ACTA2, MYLK, TGFB2, TGFB3, TGFBR1, TGFBR2
44
Show member pathways
7.8BGN, COL3A1, FBN1, FBN2, PLOD1, TGFB2
45
Show member pathways
6.8ACTA2, COL3A1, FBN1, FBN2, MYH11, MYLK
46
Show member pathways
6.7ACTA2, MYH11, MYLK, SLC2A10, SMAD3, TGFB2
47
Show member pathways
6.2ACTA2, COL3A1, FBN1, FBN2, MYH11, MYLK

GO Terms for genes affiliated with Thoracic Aortic Aneurysms and Aortic Dissections

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Cellular components related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:000152710.5FBN1, FBN2
2transforming growth factor beta receptor homodimeric complexGO:007002210.0TGFBR1, TGFBR2
3receptor complexGO:00432359.5SMAD3, TGFBR1, TGFBR2
4extracellular matrixGO:00310128.8BGN, COL3A1, FBN1, FBN2, TGFB2, TGFB3

Biological processes related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 44)
idNameGO IDScoreTop Affiliating Genes
1embryonic eye morphogenesisGO:004804810.7FBN1, FBN2
2response to cholesterolGO:007072310.7TGFBR1, TGFBR2
3regulation of cellular response to growth factor stimulusGO:009028710.6FBN1, FBN2
4sequestering of TGFbeta in extracellular matrixGO:003558310.6FBN1, FBN2
5cardiac epithelial to mesenchymal transitionGO:006031710.5TGFB2, TGFBR1
6positive regulation of occluding junction disassemblyGO:190507510.4TGFB3, TGFBR1
7positive regulation of SMAD protein import into nucleusGO:006039110.4TGFB3, TGFBR1
8negative regulation of immune responseGO:005077710.4COL3A1, TGFB2
9activin receptor signaling pathwayGO:003292410.4SMAD3, TGFBR1
10ventricular trabecula myocardium morphogenesisGO:000322210.2TGFB2, TGFBR1
11blood vessel developmentGO:000156810.2COL3A1, TGFB2, TGFBR2
12digestive tract developmentGO:004856510.2COL3A1, TGFB3, TGFBR2
13palate developmentGO:006002110.2TGFB3, TGFBR1, TGFBR2
14pathway-restricted SMAD protein phosphorylationGO:006038910.2TGFB2, TGFBR1, TGFBR2
15positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.2TGFB2, TGFBR1, TGFBR2
16collagen fibril organizationGO:003019910.2COL3A1, TGFB2, TGFBR1
17negative regulation of macrophage cytokine productionGO:001093610.2TGFB2, TGFB3
18aorta smooth muscle tissue morphogenesisGO:006041410.1COL3A1, MYLK
19embryonic cranial skeleton morphogenesisGO:004870110.1SMAD3, TGFBR1, TGFBR2
20signal transduction by protein phosphorylationGO:002301410.1TGFB2, TGFBR1, TGFBR2
21salivary gland morphogenesisGO:000743510.1TGFB2, TGFB3
22SMAD protein import into nucleusGO:000718410.1TGFB2, TGFB3
23ventricular septum morphogenesisGO:006041210.0TGFB2, TGFBR1, TGFBR2
24regulation of transforming growth factor beta2 productionGO:003290910.0SMAD3, TGFB2
25uterine wall breakdownGO:004270410.0TGFB2, TGFB3
26smooth muscle contractionGO:000693910.0MYH11, MYLK
27positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.9TGFB2, TGFB3, TGFBR1
28muscle contractionGO:00069369.8ACTA2, MYH11, MYLK
29cell cycle arrestGO:00070509.8SMAD3, TGFB2, TGFBR1
30positive regulation of stress fiber assemblyGO:00514969.8SMAD3, TGFB3, TGFBR1
31positive regulation of bone mineralizationGO:00305019.8FBN2, SMAD3, TGFB3
32heart developmentGO:00075079.7COL3A1, FBN1, TGFB2, TGFBR1, TGFBR2
33mitophagy in response to mitochondrial depolarizationGO:00987799.7MYH11, MYLK, PRKG1
34in utero embryonic developmentGO:00017019.6SMAD3, TGFB3, TGFBR1, TGFBR2
35negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.6SMAD3, TGFB3, TGFBR1, TGFBR2
36cell-cell junction organizationGO:00452169.6SMAD3, TGFB2, TGFB3
37extracellular matrix organizationGO:00301989.5BGN, COL3A1, FBN1, FBN2, TGFB2
38SMAD protein signal transductionGO:00603959.4SMAD3, TGFB2, TGFB3
39skeletal system developmentGO:00015019.2COL3A1, FBN1, SMAD3, TGFB2, TGFBR1
40positive regulation of epithelial to mesenchymal transitionGO:00107189.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
41protein phosphorylationGO:00064689.0MYLK, PRKG1, TGFB2, TGFBR1, TGFBR2
42response to hypoxiaGO:00016668.8PLOD1, SMAD3, TGFB2, TGFB3, TGFBR2
43transforming growth factor beta receptor signaling pathwayGO:00071798.6COL3A1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
44wound healingGO:00420608.1COL3A1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

Molecular functions related to Thoracic Aortic Aneurysms and Aortic Dissections according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:003002310.5FBN1, FBN2
2glycosaminoglycan bindingGO:000553910.4BGN, TGFBR2
3transforming growth factor beta-activated receptor activityGO:000502410.4TGFBR1, TGFBR2
4type I transforming growth factor beta receptor bindingGO:003471310.0TGFB3, TGFBR2
5transforming growth factor beta bindingGO:00504319.9TGFB3, TGFBR1, TGFBR2
6extracellular matrix structural constituentGO:00052019.8BGN, COL3A1, FBN1, FBN2
7SMAD bindingGO:00463329.6COL3A1, SMAD3, TGFBR1, TGFBR2
8type III transforming growth factor beta receptor bindingGO:00347149.4TGFB2, TGFB3
9type II transforming growth factor beta receptor bindingGO:00051149.2TGFB2, TGFB3, TGFBR1

Sources for Thoracic Aortic Aneurysms and Aortic Dissections

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet