TAAD
MCID: THR027
MIFTS: 43

Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) 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 Development_TGF-beta receptor signaling and SMAD2/3 MH2 Domain Mutants in Cancer. 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
Smad2-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 37)
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
7smad2-related thoracic aortic aneurysms and aortic dissections12.3
8smad3-related thoracic aortic aneurysms and aortic dissections12.3
9tgfbr1-related thoracic aortic aneurysms and aortic dissections12.3
10tgfbr2-related thoracic aortic aneurysms and aortic dissections12.3
11familial thoracic aortic aneurysm and dissection11.3
12thoracic aortic aneurysm10.3
13aortic aneurysm10.3
14aneurysm10.3
15infective dermatitis associated with htlv-110.2TGFBR1, TGFBR2
16myopathy-growth delay-intellectual disability-hypospadias syndrome10.2COL3A1, FBN1
17inflammatory breast carcinoma10.2TGFBR1, TGFBR2
18thalassemia minor10.2TGFB2, TGFB3
19legionaire disease10.1TGFB2, TGFB3
20febrile ulceronecrotic mucha-habermann disease10.1FBN1, SMAD3, TGFBR1, TGFBR2
21neuropathy, hereditary sensory and autonomic, type vi10.1ACTA2, COL3A1, FBN1, TGFBR2
22dyslexia 610.1FBN1, FBN2
23contact lens corneal edema10.1FBN1, TGFB2, TGFB3
24lubani-al saleh-teebi syndrome10.1SMAD3, TGFB2, TGFB3
25human venous malformation10.0TGFB2, TGFBR1, TGFBR2
26johnson hall krous syndrome10.0CBS, FBN1
27chronic polyneuropathy10.0ACTA2, FBN1, TGFB2, TGFBR1, TGFBR2
28intellectual developmental disorder with persistence of fetal hemoglobin9.9SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
29pneumonia9.9
30adenosquamous breast carcinoma9.8BGN, FBN1, FBN2, TGFBR2
31clivus meningioma9.8ACTA2, COL3A1, FBN1, FBN2, PLOD1
32mass syndrome9.8ACTA2, CBS, FBN1, FBN2, TGFBR1, TGFBR2
33endemic typhus9.8ACTA2, FBN1, SMAD3, TGFB2, TGFB3, TGFBR1
34cavernous malformation9.7ACTA2, COL3A1, FBN1, MFAP5, MYH11, MYLK
35algoneurodystrophy9.7ACTA2, COL3A1, FBN1, MYH11, SMAD3, TGFB2
36central nervous system teratoma9.6ACTA2, COL3A1, FBN1, MFAP5, MYH11, MYLK
37tmem231-related meckel syndrome7.9ACTA2, BGN, CBS, COL3A1, FBN1, FBN2

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-310.2MYLK, PRKG1, TGFBR1
2GR00366-A-849.0PRKG1, TGFB2, TGFBR1, TGFBR2
3GR00381-A-18.1COL3A1, 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 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2FBN1, MYH11, MYLK, PRKG1, SLC2A10, SMAD3
2MP:00053717.8BGN, FBN1, FBN2, PLOD1, SMAD3, TGFB2
3MP:00053887.4COL3A1, FBN1, FBN2, MYH11, SLC2A10, TGFB2
4MP:00053817.3COL3A1, MYH11, MYLK, PRKG1, SMAD3, TGFB2
5MP:00053846.9BGN, COL3A1, FBN1, FBN2, MYH11, PRKG1
6MP:00053766.9BGN, COL3A1, FBN1, MYH11, MYLK, PRKG1
7MP:00053696.7ACTA2, BGN, COL3A1, FBN1, FBN2, MYH11
8MP:00053786.7BGN, COL3A1, FBN1, FBN2, MYH11, MYLK
9MP:00053906.4BGN, FBN1, FBN2, MFAP5, MYLK, PLOD1
10MP:00107685.6BGN, COL3A1, FBN1, FBN2, MAT2A, MYH11
11MP:00053875.5BGN, COL3A1, FBN1, MAT2A, MFAP5, MYLK
12MP:00053855.3ACTA2, COL3A1, FBN1, FBN2, MFAP5, MYH11

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 48059-66-51986
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 459276631-46-4, 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 41697
4Carbonic Anhydrase InhibitorsPhase 4186
5AnticonvulsantsPhase 42695
6diureticsPhase 41418
7Antigen-Antibody ComplexPhase 410
8Central Nervous System DepressantsPhase 413403
9AnestheticsPhase 49596
10Peripheral Nervous System AgentsPhase 423689
11Hypnotics and SedativesPhase 42616
12Neurotransmitter AgentsPhase 418340
13Adrenergic alpha-AgonistsPhase 41734
14Adrenergic AgentsPhase 45352
15Analgesics, Non-NarcoticPhase 46501
16Adrenergic AgonistsPhase 43027
17Adrenergic alpha-2 Receptor AgonistsPhase 4980
18AnalgesicsPhase 411733
19
Warfarinapproved47081-81-26691, 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
Ethylene3374-85-16325
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
7Evaluation 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
8Clinical Study of Thoracic Aortic Aneurysm ExclusionUnknown statusNCT00549315
9The Epidemiology of Aortic Diameter in ChinaUnknown statusNCT00820378
10National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165
11Point-of-Care Focused Cardiac Ultrasound in Assessing the Thoracic AortaCompletedNCT01671618
12Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesCompletedNCT02213484
13Post Market Surveillance Study Evaluating BioFoam Surgical Matrix in Cardiovascular SurgeryCompletedNCT02164201
14Risk Factors for Aortic Dissection in the Chinese PatientsCompletedNCT02267941
15Noninvasive Neuromonitoring of Surgery of the Thoracic AortaCompletedNCT02876263
16Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and DissectionRecruitingNCT02852603
17Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study.RecruitingNCT02204774
18Hybrid Operation in Thoracic Aortic DissectionRecruitingNCT01500395
19A Registry Study on Genetics and Biomarkers of Thoracic Aortic Aneurysm/DissectionRecruitingNCT03010514
20Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic LesionsRecruitingNCT00597870
21Endovascular Exclusion of Ascending and Thoracic Aortic PathologyRecruitingNCT00583817
22Genetic Risks for Bicuspid Aortic Valve DiseaseRecruitingNCT01823432
23Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort StudyRecruitingNCT02010892
24Biomechanical and Microstructural Properties of Ascending Aortic AneurysmsRecruitingNCT03142074
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
30Thoraflex™ Hybrid IDE StudyRecruitingNCT02724072
31Evaluation 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
32GORE® TAG® Thoracic Endoprosthesis French Mandatory RegistryRecruitingNCT02266342
33Evaluation 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
34Visceral Manifold and Unitary Device Study for the Repair of Thoracoabdominal Aortic AneurysmsRecruitingNCT02294435
35Exercise 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
36Cardiovascular Health Improvement ProjectRecruitingNCT02306200
37Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
38Prospective Follow-up Study of the Aortic Diameter in Patients With Giant Cell ArteritisRecruitingNCT01588483
39Registry Of Acute meDical Emergencies in BrazilRecruitingNCT02753023
40Valiant Thoracic Stent Graft With the Captivia Delivery System in the Treatment of Descending Thoracic Aortic Diseases (VALIANT CAPTIVIA France)Active, not recruitingNCT01775046
41Study 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
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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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 116)
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.970G> A (p.Gly324Ser)SNVPathogenic/ Likely pathogenicrs587779650GRCh37Chr 2, 189856928: 189856928
3COL3A1NM_ 000090.3(COL3A1): c.2096G> A (p.Gly699Asp)SNVPathogenicrs587779706GRCh37Chr 2, 189864084: 189864084
4CBSNM_ 000071.2(CBS): c.833T> C (p.Ile278Thr)SNVPathogenicrs5742905GRCh37Chr 21, 44483184: 44483184
5TGFBR2NM_ 003242.5(TGFBR2): c.1378C> T (p.Arg460Cys)SNVPathogenicrs104893811GRCh37Chr 3, 30715720: 30715720
6TGFBR2NM_ 003242.5(TGFBR2): c.1483C> T (p.Arg495Ter)SNVPathogenic/ Likely pathogenicrs104893819GRCh37Chr 3, 30729962: 30729962
7TGFBR1NM_ 004612.3(TGFBR1): c.722C> T (p.Ser241Leu)SNVPathogenic/ Likely pathogenicrs111854391GRCh37Chr 9, 101900288: 101900288
8TGFBR1NM_ 004612.3(TGFBR1): c.1460G> A (p.Arg487Gln)SNVPathogenicrs113605875GRCh37Chr 9, 101911535: 101911535
9TGFBR1NM_ 004612.3(TGFBR1): c.1459C> T (p.Arg487Trp)SNVPathogenicrs111426349GRCh37Chr 9, 101911534: 101911534
10CBSNM_ 000071.2(CBS): c.1058C> T (p.Thr353Met)SNVPathogenic/ Likely pathogenicrs121964972GRCh37Chr 21, 44480638: 44480638
11MYH11NM_ 022844.2(MYH11): c.2135G> A (p.Arg712Gln)SNVPathogenic/ Likely pathogenicrs267606902GRCh37Chr 16, 15841949: 15841949
12SLC2A10NM_ 030777.3(SLC2A10): c.685C> T (p.Arg229Ter)SNVPathogenicrs756457861GRCh37Chr 20, 45354360: 45354360
13SLC2A10NM_ 030777.3(SLC2A10): c.692G> A (p.Arg231Gln)SNVPathogenic/ Likely pathogenicrs771028960GRCh37Chr 20, 45354367: 45354367
14FBN1NM_ 000138.4(FBN1): c.7754T> C (p.Ile2585Thr)SNVPathogenic/ Likely pathogenicrs727503054GRCh37Chr 15, 48712949: 48712949
15FBN1NM_ 000138.4(FBN1): c.8326C> T (p.Arg2776Ter)SNVPathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
16FBN1NM_ 000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)SNVPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
17FBN1NM_ 000138.4(FBN1): c.6354C> T (p.Ile2118=)SNVPathogenic/ Likely pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
18FBN1NM_ 000138.4(FBN1): c.1285C> T (p.Arg429Ter)SNVPathogenicrs112645512GRCh37Chr 15, 48808422: 48808422
19ACTA2NM_ 001613.2(ACTA2): c.445C> T (p.Arg149Cys)SNVPathogenicrs121434526GRCh37Chr 10, 90701551: 90701551
20ACTA2NM_ 001613.2(ACTA2): c.772C> T (p.Arg258Cys)SNVPathogenic/ Likely pathogenicrs121434528GRCh37Chr 10, 90699300: 90699300
21FBN1NM_ 000138.4(FBN1): c.1693C> T (p.Arg565Ter)SNVPathogenicrs113422242GRCh38Chr 15, 48510065: 48510065
22FBN1NM_ 000138.4(FBN1): c.3344A> G (p.Asp1115Gly)SNVPathogenic/ Likely pathogenicrs794728203GRCh38Chr 15, 48487431: 48487431
23FBN1NM_ 000138.4(FBN1): c.6169C> T (p.Arg2057Ter)SNVPathogenicrs763091520GRCh38Chr 15, 48437912: 48437912
24FBN1NM_ 000138.4(FBN1): c.1679dupG (p.Phe561Leufs)duplicationPathogenicrs794728297GRCh38Chr 15, 48510079: 48510079
25FBN1NM_ 000138.4(FBN1): c.2180dupG (p.Cys727Trpfs)duplicationPathogenicrs794728299GRCh38Chr 15, 48497379: 48497379
26FBN1NM_ 000138.4(FBN1): c.2569_ 2570delGT (p.Val857Hisfs)deletionPathogenicrs794728301GRCh38Chr 15, 48495230: 48495231
27FBN1NM_ 000138.4(FBN1): c.2601dupT (p.Gly868Trpfs)duplicationPathogenicrs794728302GRCh38Chr 15, 48495199: 48495199
28FBN1NM_ 000138.4(FBN1): c.2786_ 2789dupCTAG (p.Arg930Serfs)duplicationPathogenicrs794728305GRCh38Chr 15, 48492526: 48492529
29FBN1NM_ 000138.4(FBN1): c.3424_ 3427dupCCTG (p.Gly1143Alafs)duplicationPathogenicrs794728306GRCh37Chr 15, 48779545: 48779548
30FBN1NM_ 000138.4(FBN1): c.4429dupG (p.Glu1477Glyfs)duplicationPathogenicrs794728310GRCh38Chr 15, 48470664: 48470664
31FBN1NM_ 000138.4(FBN1): c.5957dupC (p.Gly1987Argfs)duplicationPathogenicrs794728313GRCh38Chr 15, 48444621: 48444621
32FBN1NM_ 000138.4(FBN1): c.6163+2dupTduplicationPathogenicrs794728315GRCh38Chr 15, 48441719: 48441719
33FBN1NM_ 000138.4(FBN1): c.6406_ 6407dupGT (p.Cys2137Serfs)duplicationPathogenicrs794728317GRCh38Chr 15, 48437050: 48437051
34FBN1NM_ 000138.4(FBN1): c.6722_ 6725dupACCG (p.Arg2243Profs)duplicationPathogenicrs794728318GRCh38Chr 15, 48432880: 48432883
35FBN1NM_ 000138.4(FBN1): c.8154dupT (p.Lys2719Terfs)duplicationPathogenicrs794728321GRCh37Chr 15, 48704838: 48704838
36FBN1NM_ 000138.4(FBN1): c.8544delA (p.Lys2848Asnfs)deletionPathogenicrs794728323GRCh38Chr 15, 48411062: 48411062
37FBN1NM_ 000138.4(FBN1): c.225delT (p.Gly76Alafs)deletionPathogenicrs794728324GRCh38Chr 15, 48613032: 48613032
38FBN1NM_ 000138.4(FBN1): c.4930C> T (p.Arg1644Ter)SNVPathogenicrs140630GRCh38Chr 15, 48465580: 48465580
39FBN1NM_ 000138.4(FBN1): c.1297_ 1300dupGAAT (p.Tyr434Terfs)duplicationPathogenicrs794728341GRCh38Chr 15, 48516210: 48516213
40MYH11NM_ 002474.2(MYH11): c.4578+2dupTduplicationPathogenicrs794728677GRCh38Chr 16, 15721420: 15721420
41CBSNM_ 000071.2(CBS): c.146C> T (p.Pro49Leu)SNVPathogenic/ Likely pathogenicrs148865119GRCh37Chr 21, 44492158: 44492158
42CBSNM_ 000071.2(CBS): c.325T> C (p.Cys109Arg)SNVPathogenicrs778220779GRCh38Chr 21, 43066369: 43066369
43SMAD3NM_ 005902.3(SMAD3): c.277C> T (p.Arg93Ter)SNVPathogenic/ Likely pathogenicrs768713596GRCh38Chr 15, 67164965: 67164965
44SMAD3NM_ 005902.3(SMAD3): c.990dupC (p.Val331Argfs)duplicationPathogenicrs863223754GRCh37Chr 15, 67477183: 67477183
45TGFBR2NM_ 003242.5(TGFBR2): c.1489C> T (p.Arg497Ter)SNVPathogenicrs863223852GRCh38Chr 3, 30688476: 30688476
46TGFBR2NM_ 003242.5(TGFBR2): c.1271A> G (p.Tyr424Cys)SNVPathogenicrs878854610GRCh37Chr 3, 30715613: 30715613
47FBN1NM_ 000138.4(FBN1): c.526C> T (p.Gln176Ter)SNVPathogenicrs886038766GRCh38Chr 15, 48596295: 48596295
48FBN1NM_ 000138.4(FBN1): c.2227delC (p.Arg743Valfs)deletionPathogenicrs886038769GRCh37Chr 15, 48789529: 48789529
49TGFBR2NM_ 003242.5(TGFBR2): c.1261A> G (p.Thr421Ala)SNVPathogenicrs886038787GRCh37Chr 3, 30715603: 30715603
50FBN1NM_ 000138.4(FBN1): c.5789-2A> GSNVPathogenicrs886038790GRCh38Chr 15, 48445506: 48445506
51TGFBR2NM_ 003242.5(TGFBR2): c.831G> T (p.Lys277Asn)SNVPathogenicrs886038794GRCh37Chr 3, 30713506: 30713506
52FBN1NM_ 000138.4(FBN1): c.8488C> T (p.Gln2830Ter)SNVPathogenicrs886038795GRCh38Chr 15, 48411118: 48411118
53FBN1NM_ 000138.4(FBN1): c.7C> T (p.Arg3Ter)SNVPathogenicrs886038797GRCh38Chr 15, 48644763: 48644763
54FBN1NM_ 000138.4(FBN1): c.8149G> T (p.Glu2717Ter)SNVPathogenicrs187553035GRCh38Chr 15, 48412646: 48412646
55FBN1NM_ 000138.4(FBN1): c.2725delG (p.Glu909Lysfs)deletionPathogenicrs886038804GRCh38Chr 15, 48494207: 48494207
56FBN1NM_ 000138.4(FBN1): c.1571delC (p.Thr524Serfs)deletionPathogenicrs886038817GRCh37Chr 15, 48805763: 48805763
57FBN1NM_ 000138.4(FBN1): c.5067_ 5073delTATGAGA (p.Asp1689Glufs)deletionPathogenicrs886038823GRCh37Chr 15, 48755430: 48755436
58FBN2NM_ 001999.3(FBN2): c.1804delT (p.Cys602Alafs)deletionPathogenicrs886038824GRCh38Chr 5, 128377797: 128377797
59FBN1NM_ 000138.4(FBN1): c.4412_ 4415delAGTG (p.Glu1471Valfs)deletionPathogenicrs886038846GRCh37Chr 15, 48762875: 48762878
60TGFBR2NM_ 003242.5(TGFBR2): c.1136A> T (p.Asp379Val)SNVPathogenicrs886038847GRCh37Chr 3, 30713811: 30713811
61FBN1NM_ 000138.4(FBN1): c.1211dupC (p.Pro405Thrfs)duplicationPathogenicrs886038857GRCh38Chr 15, 48516299: 48516299
62FBN1NM_ 000138.4(FBN1): c.7939C> T (p.Gln2647Ter)SNVPathogenicrs886038870GRCh38Chr 15, 48415648: 48415648
63COL3A1NM_ 000090.3(COL3A1): c.2642delC (p.Pro881Leufs)deletionPathogenicrs886038920GRCh38Chr 2, 189003768: 189003768
64COL3A1NM_ 000090.3(COL3A1): c.3500_ 3501delGTinsAA (p.Gly1167Glu)indelPathogenicrs886038925GRCh38Chr 2, 189008117: 189008118
65FBN1NM_ 000138.4(FBN1): c.5825G> C (p.Cys1942Ser)SNVPathogenicrs794728241GRCh37Chr 15, 48737665: 48737665
66FBN1NM_ 000138.4(FBN1): c.2524A> T (p.Lys842Ter)SNVPathogenicrs886038941GRCh38Chr 15, 48495484: 48495484
67FBN1NM_ 000138.4(FBN1): c.6884G> A (p.Cys2295Tyr)SNVPathogenicrs886038949GRCh38Chr 15, 48428459: 48428459
68TGFBR1NM_ 004612.3(TGFBR1): c.1302_ 1303dupTG (p.Asp435Valfs)duplicationPathogenicrs886038954GRCh38Chr 9, 99147700: 99147701
69FBN1NM_ 000138.4(FBN1): c.7092_ 7093delCT (p.Cys2364Trpfs)deletionPathogenicrs886038955GRCh38Chr 15, 48427678: 48427679
70FBN1NM_ 000138.4(FBN1): c.3209-1G> CSNVPathogenicrs886038956GRCh38Chr 15, 48488242: 48488242
71FBN1NM_ 000138.4(FBN1): c.6492T> A (p.Cys2164Ter)SNVPathogenicrs886038957GRCh37Chr 15, 48729162: 48729162
72FBN1NM_ 000138.4(FBN1): c.5720delA (p.Asn1907Thrfs)deletionPathogenicrs886038959GRCh38Chr 15, 48446774: 48446774
73FBN1NM_ 000138.4(FBN1): c.1807C> T (p.Gln603Ter)SNVPathogenicrs886038963GRCh37Chr 15, 48800809: 48800809
74FBN1NM_ 000138.4(FBN1): c.4135_ 4141delGACTGCA (p.Asp1379Argfs)deletionPathogenicrs886038970GRCh38Chr 15, 48474324: 48474330
75FBN1NM_ 000138.4(FBN1): c.1191dupG (p.Arg398Glufs)duplicationPathogenicrs886038972GRCh37Chr 15, 48808516: 48808516
76FBN1NM_ 000138.4(FBN1): c.2127_ 2130delACTCins11 (p.?)indelPathogenicrs886038973GRCh38Chr 15, 48499022: 48499025
77FBN1NM_ 000138.4(FBN1): c.7792C> T (p.Gln2598Ter)SNVPathogenicrs886038975GRCh38Chr 15, 48420714: 48420714
78ACTA2NM_ 001613.2(ACTA2): c.940C> T (p.Arg314Ter)SNVPathogenicrs886038978GRCh38Chr 10, 88938111: 88938111
79FBN1NM_ 000138.4(FBN1): c.4956delT (p.Cys1652Trpfs)deletionPathogenicrs886038979GRCh38Chr 15, 48464008: 48464008
80FBN1NM_ 000138.4(FBN1): c.3082+1G> CSNVPathogenicrs886038996GRCh38Chr 15, 48489850: 48489850
81FBN1NM_ 000138.4(FBN1): c.841_ 842insT (p.Glu281Valfs)insertionPathogenicrs886039034GRCh38Chr 15, 48534100: 48534101
82FBN1NM_ 000138.4(FBN1): c.4562delC (p.Pro1521Glnfs)deletionPathogenicrs886039035GRCh38Chr 15, 48468432: 48468432
83FBN1NM_ 000138.4(FBN1): c.439C> T (p.Gln147Ter)SNVPathogenicrs886039036GRCh38Chr 15, 48600142: 48600142
84PLOD1NM_ 000302.3(PLOD1): c.404_ 423del20 (p.Asp135Valfs)deletionPathogenicrs886039051GRCh38Chr 1, 11950458: 11950477
85FBN1NM_ 000138.4(FBN1): c.3159C> A (p.Cys1053Ter)SNVPathogenicrs886039054GRCh37Chr 15, 48780614: 48780614
86FBN1NM_ 000138.4(FBN1): c.3G> T (p.Met1Ile)SNVPathogenicrs886039072GRCh38Chr 15, 48644767: 48644767
87TGFBR2NM_ 003242.5(TGFBR2): c.1178G> A (p.Cys393Tyr)SNVPathogenicrs886039106GRCh37Chr 3, 30713853: 30713853
88FBN1NM_ 000138.4(FBN1): c.2906delT (p.Leu969Argfs)deletionPathogenicrs886039154GRCh37Chr 15, 48782224: 48782224
89FBN1NM_ 000138.4(FBN1): c.5536delC (p.Gln1846Serfs)deletionPathogenicrs886039167GRCh38Chr 15, 48452571: 48452571
90FBN1NM_ 000138.4(FBN1): c.3669T> A (p.Cys1223Ter)SNVPathogenicrs886039196GRCh38Chr 15, 48485417: 48485417
91BGNNM_ 001711.5(BGN): c.5G> A (p.Trp2Ter)SNVPathogenicrs886037823GRCh37Chr X, 152770094: 152770094
92BGNNM_ 001711.5(BGN): c.908A> C (p.Gln303Pro)SNVPathogenicrs886037824GRCh37Chr X, 152772642: 152772642
93BGNNC_ 000023.10: g.152767424_ 152787984del20561deletionPathogenicGRCh37Chr X, 152767424: 152787984
94BGNNC_ 000023.10: g.152768438_ 152795976del27539deletionPathogenicGRCh37Chr X, 152768438: 152795976
95BGNNM_ 001711.5(BGN): c.238G> A (p.Gly80Ser)SNVPathogenicrs886037825GRCh37Chr X, 152770327: 152770327
96ACTA2NM_ 001613.2(ACTA2): c.536G> A (p.Arg179His)SNVPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066
97TGFBR1NM_ 004612.3(TGFBR1): c.1240C> T (p.Arg414Ter)SNVPathogenic, risk factorrs387906697GRCh37Chr 9, 101908876: 101908876
98FBN1NM_ 000138.4(FBN1): c.2433C> A (p.Cys811Ter)SNVPathogenic/ Likely pathogenicrs193921256GRCh37Chr 15, 48787772: 48787772
99FBN1NM_ 000138.4(FBN1): c.4588C> T (p.Arg1530Cys)SNVPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
100FBN1NM_ 000138.4(FBN1): c.6806T> C (p.Ile2269Thr)SNVPathogenic/ Likely pathogenicrs193922228GRCh37Chr 15, 48722933: 48722933
101SMAD3NM_ 005902.3(SMAD3): c.797C> A (p.Ser266Ter)SNVPathogenicrs753486471GRCh38Chr 15, 67181379: 67181379
102SMAD3NM_ 005902.3(SMAD3): c.246_ 247dupGC (p.Leu83Argfs)duplicationPathogenicGRCh38Chr 15, 67164934: 67164935
103SMAD3NM_ 005902.3(SMAD3): c.903_ 904dupGG (p.Glu302Glyfs)duplicationPathogenicGRCh38Chr 15, 67184758: 67184759
104SMAD3NM_ 005902.3(SMAD3): c.427_ 431delCACAC (p.His143Argfs)deletionPathogenicrs1060500773GRCh38Chr 15, 67165279: 67165283
105TGFBR2NM_ 003242.5(TGFBR2): c.1346C> G (p.Ser449Cys)SNVPathogenicrs104893807GRCh38Chr 3, 30674196: 30674196
106TGFBR1NM_ 004612.3(TGFBR1): c.469C> T (p.Arg157Ter)SNVPathogenicrs1060502040GRCh38Chr 9, 99132634: 99132634
107FBN1NM_ 000138.4(FBN1): c.1468+5G> ASNVPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
108FBN1NM_ 000138.4(FBN1): c.1546C> T (p.Arg516Ter)SNVPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
109FBN1NM_ 000138.4(FBN1): c.4615C> T (p.Arg1539Ter)SNVPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
110FBN1NM_ 000138.4(FBN1): c.5368C> T (p.Arg1790Ter)SNVPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
111FBN1NM_ 000138.4(FBN1): c.643C> T (p.Arg215Ter)SNVPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
112ACTA2NM_ 001613.2(ACTA2): c.635G> A (p.Arg212Gln)SNVPathogenic/ Likely pathogenicrs397516685GRCh37Chr 10, 90699437: 90699437
113SLC2A10NM_ 030777.3(SLC2A10): c.1334delG (p.Gly445Glufs)deletionPathogenicrs587776600GRCh37Chr 20, 45355548: 45355548
114ACTA2NM_ 001141945.2(ACTA2): c.115C> T (p.Arg39Cys)SNVPathogenicrs112901682GRCh37Chr 10, 90708573: 90708573
115PRKG1NM_ 001098512.2(PRKG1): c.530G> A (p.Arg177Gln)SNVPathogenicrs397515330GRCh37Chr 10, 53227579: 53227579
116MYH11NM_ 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 50)
idSuper pathwaysScoreTop Affiliating Genes
19.8SMAD3, TGFBR1, TGFBR2
2
Show member pathways
9.8SMAD3, TGFBR1, TGFBR2
39.8SMAD3, TGFBR1, TGFBR2
4
Show member pathways
9.8SMAD3, TGFBR1, TGFBR2
59.8SMAD3, TGFBR1, TGFBR2
6
Show member pathways
9.8SMAD3, TGFBR1, TGFBR2
7
Show member pathways
9.8SMAD3, TGFBR1, TGFBR2
89.5ACTA2, MYH11, MYLK
99.5COL3A1, MYLK, PRKG1
10
Show member pathways
9.4TGFB3, TGFBR1, TGFBR2
119.4TGFB3, TGFBR1, TGFBR2
129.3ACTA2, MYLK, SMAD3, TGFBR1
139.3FBN1, FBN2, SMAD3, TGFBR1, TGFBR2
149.2TGFB2, TGFBR1, TGFBR2
15
Show member pathways
9.2SMAD3, TGFB3, TGFBR1, TGFBR2
169.0TGFB2, TGFB3
17
Show member pathways
9.0SMAD3, TGFB2, TGFBR1, TGFBR2
18
Show member pathways
9.0SMAD3, TGFB2, TGFBR1, TGFBR2
19
Show member pathways
8.8TGFB2, TGFB3, TGFBR1
208.7COL3A1, TGFB2, TGFB3
218.6BGN, TGFB2, TGFB3
228.6TGFB2, TGFB3, TGFBR1, TGFBR2
238.6SMAD3, TGFB2, TGFB3, TGFBR1
248.4ACTA2, BGN, TGFB2, TGFB3
25
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
268.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
27
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
28
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
298.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
30
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
31
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
32
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
33
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
34
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
358.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
368.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
378.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
38
Show member pathways
8.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
398.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
408.4SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
418.1ACTA2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
428.1COL3A1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
43
Show member pathways
8.0FBN1, FBN2, MFAP5, TGFB2, TGFB3
44
Show member pathways
7.9ACTA2, MYLK, TGFB2, TGFB3, TGFBR1, TGFBR2
45
Show member pathways
7.9ACTA2, MYH11, PRKG1, TGFB2, TGFB3, TGFBR1
46
Show member pathways
7.8ACTA2, COL3A1, FBN1, FBN2, TGFB2, TGFB3
47
Show member pathways
7.0ACTA2, MYH11, MYLK, SLC2A10, SMAD3, TGFB2
48
Show member pathways
7.0BGN, COL3A1, FBN1, FBN2, MFAP5, PLOD1
49
Show member pathways
6.9ACTA2, COL3A1, FBN1, FBN2, MYH11, MYLK
50
Show member pathways
6.6ACTA2, 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
1transforming growth factor beta receptor complexGO:007002210.1TGFBR1, TGFBR2
2microfibrilGO:000152710.1FBN1, FBN2, MFAP5
3proteinaceous extracellular matrixGO:00055788.8BGN, COL3A1, FBN1, FBN2, MFAP5
4extracellular matrixGO:00310128.6BGN, COL3A1, FBN1, FBN2, TGFB2, TGFB3
5extracellular spaceGO:00056158.0ACTA2, BGN, COL3A1, FBN1, MFAP5, TGFB2

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1activin receptor signaling pathwayGO:003292410.8SMAD3, TGFBR1
2response to cholesterolGO:007072310.7TGFBR1, TGFBR2
3embryonic eye morphogenesisGO:004804810.7FBN1, FBN2
4regulation of cellular response to growth factor stimulusGO:009028710.6FBN1, FBN2
5transmembrane receptor protein serine/threonine kinase signaling pathwayGO:000717810.6TGFBR1, TGFBR2
6sequestering of TGFbeta in extracellular matrixGO:003558310.6FBN1, FBN2
7embryonic cranial skeleton morphogenesisGO:004870110.6SMAD3, TGFBR1, TGFBR2
8cellular response to transforming growth factor beta stimulusGO:007156010.5FBN1, SMAD3, TGFBR1
9aorta smooth muscle tissue morphogenesisGO:006041410.5COL3A1, MYLK
10smooth muscle contractionGO:000693910.4MYH11, MYLK
11positive regulation of occluding junction disassemblyGO:190507510.4TGFB3, TGFBR1
12positive regulation of SMAD protein import into nucleusGO:006039110.4TGFB3, TGFBR1
13muscle contractionGO:000693610.3ACTA2, MYH11, MYLK
14supramolecular fiber organizationGO:009743510.3COL3A1, MFAP5
15atrioventricular valve morphogenesisGO:000318110.2TGFB2, TGFBR2
16endocardial cushion fusionGO:000327410.2TGFB2, TGFBR2
17cardiac epithelial to mesenchymal transitionGO:006031710.2TGFB2, TGFBR1
18membranous septum morphogenesisGO:000314910.2TGFB2, TGFBR2
19digestive tract developmentGO:004856510.1COL3A1, TGFB3, TGFBR2
20negative regulation of immune responseGO:005077710.1COL3A1, TGFB2
21positive regulation of stress fiber assemblyGO:005149610.1SMAD3, TGFB3, TGFBR1
22regulation of transforming growth factor beta2 productionGO:003290910.1SMAD3, TGFB2
23positive regulation of bone mineralizationGO:003050110.0FBN2, SMAD3, TGFB3
24pathway-restricted SMAD protein phosphorylationGO:006038910.0TGFB2, TGFBR1, TGFBR2
25positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.0TGFB2, TGFBR1, TGFBR2
26ventricular trabecula myocardium morphogenesisGO:000322210.0TGFB2, TGFBR1
27kidney developmentGO:000182210.0FBN1, TGFB2, TGFBR1
28blood vessel developmentGO:00015689.9COL3A1, TGFB2, TGFBR2
29collagen fibril organizationGO:00301999.9COL3A1, TGFB2, TGFBR1
30in utero embryonic developmentGO:00017019.9SMAD3, TGFB3, TGFBR1, TGFBR2
31negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.9SMAD3, TGFB3, TGFBR1, TGFBR2
32signal transduction by protein phosphorylationGO:00230149.9TGFB2, TGFBR1, TGFBR2
33ventricular septum morphogenesisGO:00604129.8TGFB2, TGFBR1, TGFBR2
34negative regulation of macrophage cytokine productionGO:00109369.8TGFB2, TGFB3
35salivary gland morphogenesisGO:00074359.7TGFB2, TGFB3
36SMAD protein import into nucleusGO:00071849.7TGFB2, TGFB3
37uterine wall breakdownGO:00427049.6TGFB2, TGFB3
38positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.5TGFB2, TGFB3, TGFBR1
39cell-cell junction organizationGO:00452169.5SMAD3, TGFB2, TGFB3
40heart developmentGO:00075079.5COL3A1, FBN1, TGFB2, TGFBR1, TGFBR2
41SMAD protein signal transductionGO:00603959.4SMAD3, TGFB2, TGFB3
42palate developmentGO:00600219.3TGFB2, TGFB3, TGFBR1, TGFBR2
43skeletal system developmentGO:00015019.3COL3A1, FBN1, SMAD3, TGFB2, TGFBR1
44protein phosphorylationGO:00064689.2MYLK, PRKG1, TGFB2, TGFBR1, TGFBR2
45positive regulation of epithelial to mesenchymal transitionGO:00107189.1SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
46response to hypoxiaGO:00016668.9PLOD1, SMAD3, TGFB2, TGFB3, TGFBR2
47extracellular matrix organizationGO:00301988.7BGN, COL3A1, FBN1, FBN2, MFAP5, TGFB2
48transforming growth factor beta receptor signaling pathwayGO:00071798.6COL3A1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
49wound 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 12)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix constituent conferring elasticityGO:003002310.6FBN1, FBN2
2transforming growth factor beta-activated receptor activityGO:000502410.5TGFBR1, TGFBR2
3transmembrane receptor protein serine/threonine kinase activityGO:000467510.4TGFBR1, TGFBR2
4SMAD bindingGO:004633210.0COL3A1, SMAD3, TGFBR1, TGFBR2
5transforming growth factor beta bindingGO:00504319.9TGFB3, TGFBR1, TGFBR2
6type I transforming growth factor beta receptor bindingGO:00347139.9TGFB3, TGFBR2
7signal transducer, downstream of receptor, with serine/threonine kinase activityGO:00047029.8TGFB2, TGFBR1, TGFBR2
8extracellular matrix structural constituentGO:00052019.3BGN, COL3A1, FBN1, FBN2, MFAP5
9transforming growth factor beta receptor bindingGO:00051609.2SMAD3, TGFB2, TGFB3
10type III transforming growth factor beta receptor bindingGO:00347149.0TGFB2, TGFB3
11ATP bindingGO:00055249.0ACTA2, MAT2A, MYH11, MYLK, PRKG1, TGFBR1
12type II transforming growth factor beta receptor bindingGO:00051148.8TGFB2, 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