MCID: THR027
MIFTS: 41

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 22 23 25
Thoracic Aortic Aneurysms and Dissection 23
 
Thoracic Aortic Dissection 23
Taad 23

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 ALK1 signaling events and Glypican 1 network. Affiliated tissues include endothelial, testes and lung, and related mouse phenotypes are respiratory system and integument.

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 33)
idRelated DiseaseScoreTop Affiliating Genes
1prkg1-related thoracic aortic aneurysms and aortic dissections12.4
2acta2-related thoracic aortic aneurysms and aortic dissections12.4
3fbn1-related thoracic aortic aneurysms and aortic dissections12.4
4mfap5-related thoracic aortic aneurysms and aortic dissections12.4
5myh11-related thoracic aortic aneurysms and aortic dissections12.4
6mylk-related thoracic aortic aneurysms and aortic dissections12.4
7smad3-related thoracic aortic aneurysms and aortic dissections12.4
8tgfbr1-related thoracic aortic aneurysms and aortic dissections12.4
9tgfbr2-related thoracic aortic aneurysms and aortic dissections12.4
10familial thoracic aortic aneurysm and dissection11.4
11thoracic aortic aneurysm10.4
12aortic aneurysm10.4
13aneurysm10.4
14spinal cancer10.2FBN1, TGFBR2
15granulomatous myositis10.2MYH11, TGFBR2
16deletion 5q3510.1COL3A1, FBN1
17celiac trunk compression syndrome10.1TGFBR1, TGFBR2
18chromophil adenoma of the kidney10.1TGFBR1, TGFBR2
19pneumonia10.0
20epidermolysis bullosa simplex superficialis10.0ACTA2, TGFBR2
21macrocephaly mesodermal hamartoma spectrum9.9TGFBR1, TGFBR2
22mediastinum seminoma9.9TGFBR1, TGFBR2
23holoprosencephaly9.9TGFBR1, TGFBR2
24hodgkin's lymphoma, lymphocytic-histiocytic predominance9.7COL3A1, FBN1
25adenosine monophosphate deaminase deficiency erythrocyte type9.6SMAD3, TGFBR1, TGFBR2
26malignant struma ovarii9.4ACTA2, FBN1, TGFBR1, TGFBR2
27ectopia lentis, familial9.4ACTA2, FBN1, TGFBR1, TGFBR2
28pulmonary venous return anomaly9.3FBN1, SMAD3, TGFBR1, TGFBR2
29epidemic typhus8.9ACTA2, FBN1, SMAD3, TGFBR1, TGFBR2
30anoxia7.5ACTA2, COL3A1, MYH11, MYLK, SMAD3, TGFBR1
31brucella canis brucellosis7.2ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3
32childhood spinal cord tumor7.2ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3
33udd distal myopathy7.2ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3

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 for Thoracic Aortic Aneurysms and Aortic Dissections

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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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1diureticsPhase 41338
2
AcetazolamidePhase 47059-66-51986
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
3
DexmedetomidinePhase 451576631-46-4, 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
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
5
Ethylene3174-85-16325
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 42)
idNameStatusNCT IDPhase
1Endovascular Repair of Descending Thoracic Aortic AneurysmsCompletedNCT00802984Phase 4
2Effectiveness of Acetazolamide in Reducing Paralysis of the Leg in Patients Undergoing Aortic Aneurysm Surgery SurgeryRecruitingNCT01889498Phase 4
3Vasculopathic Injury and Plasma as Endothelial Rescue - OCTAplas Trial (EudraCT no. 2014-000452-28)Active, not recruitingNCT02253082Phase 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
10Post Market Surveillance Study Evaluating BioFoam Surgical Matrix in Cardiovascular SurgeryCompletedNCT02164201
11Point-of-Care Focused Cardiac Ultrasound in Assessing the Thoracic AortaCompletedNCT01671618
12Noninvasive Neuromonitoring of Surgery of the Thoracic AortaCompletedNCT02876263
13Risk Factors for Aortic Dissection in the Chinese PatientsCompletedNCT02267941
14Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and DissectionRecruitingNCT02852603
15Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic LesionsRecruitingNCT00597870
16Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
17Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study.RecruitingNCT02204774
18Hybrid Operation in Thoracic Aortic DissectionRecruitingNCT01500395
19Cardiovascular Health Improvement ProjectRecruitingNCT02306200
20Evaluation of Valiant Mona LSARecruitingNCT02365467
21GORE® TAG® Thoracic Endoprosthesis French Mandatory RegistryRecruitingNCT02266342
22Genetic Risks for Bicuspid Aortic Valve DiseaseRecruitingNCT01823432
23Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort StudyRecruitingNCT02010892
24Visceral Manifold and Unitary Device Study for the Repair of Thoracoabdominal Aortic AneurysmsRecruitingNCT02294435
25Clinical Study of Thoracic Aortic Aneurysm ExclusionRecruitingNCT00549315
26Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
27Endovascular Aortic Repair for Aortic DissectionRecruitingNCT01505309
28Feasibility of Endovascular Repair Of Ascending Aortic PathologiesRecruitingNCT02201589
29Brazilian Registry of Acute SItuations in Emergency Department - BRASIED RegistryRecruitingNCT02753023
30International Bicuspid Aortic Valve Consortium (BAVCon)RecruitingNCT01980797
31Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
32Evaluation 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
33Evaluation 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
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
35Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
36Prospective Follow-up Study of the Aortic Diameter in Patients With Giant Cell ArteritisRecruitingNCT01588483
37The Epidemiology of Aortic Diameter in ChinaRecruitingNCT00820378
38National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
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
42VALIANT 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 Dissection25
2 Thoracic Aortic Aneurysms and Aortic Dissections23 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:

34
Endothelial, Testes, Lung

Animal Models for Thoracic Aortic Aneurysms and Aortic Dissections or affiliated genes

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MGI Mouse Phenotypes related to Thoracic Aortic Aneurysms and Aortic Dissections:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2COL3A1, FBN1, MYH11, TGFBR1, TGFBR2
2MP:00107718.2COL3A1, FBN1, MYH11, SMAD3, TGFBR1
3MP:00053907.8FBN1, MYLK, SMAD3, TGFBR1, TGFBR2
4MP:00053877.7COL3A1, FBN1, MYLK, SMAD3, TGFBR1, TGFBR2
5MP:00053847.7COL3A1, FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
6MP:00053817.4COL3A1, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2
7MP:00053697.3ACTA2, COL3A1, FBN1, MYH11, MYLK, TGFBR1
8MP:00107686.9COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
9MP:00053786.7COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
10MP:00053766.5COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFBR1
11MP:00053856.4ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3

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 37)
id Gene Variation Type Significance SNP ID Assembly Location
1MYH11NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln)single nucleotide variantLikely pathogenic, Pathogenicrs267606902GRCh37Chr 16, 15841949: 15841949
2FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
3FBN1NM_000138.4(FBN1): c.1453C> T (p.Arg485Cys)single nucleotide variantPathogenicrs137854485GRCh37Chr 15, 48807599: 48807599
4FBN1NM_000138.4(FBN1): c.3037G> A (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
5COL3A1NM_000090.3(COL3A1): c.1241G> T (p.Gly414Val)single nucleotide variantPathogenicrs794728044GRCh37Chr 2, 189859006: 189859006
6COL3A1NM_000090.3(COL3A1): c.4087C> T (p.Arg1363Ter)single nucleotide variantPathogenicrs794728060GRCh37Chr 2, 189875449: 189875449
7FBN1NM_000138.4(FBN1): c.813C> A (p.Cys271Ter)single nucleotide variantPathogenicrs765692335GRCh38Chr 15, 48534129: 48534129
8FBN1NM_000138.4(FBN1): c.3344A> G (p.Asp1115Gly)single nucleotide variantPathogenicrs794728203GRCh38Chr 15, 48487431: 48487431
9FBN1NM_000138.4(FBN1): c.5197T> G (p.Cys1733Gly)single nucleotide variantPathogenicrs794728235GRCh38Chr 15, 48463109: 48463109
10FBN1NM_000138.4(FBN1): c.6871+1G> Tsingle nucleotide variantPathogenicrs794728258GRCh38Chr 15, 48430670: 48430670
11FBN1NM_000138.4(FBN1): c.7003C> T (p.Arg2335Trp)single nucleotide variantPathogenicrs794728262GRCh38Chr 15, 48427768: 48427768
12FBN1NM_000138.4(FBN1): c.7604G> A (p.Cys2535Tyr)single nucleotide variantPathogenicrs794728275GRCh38Chr 15, 48421653: 48421653
13FBN1NM_000138.4(FBN1): c.7624C> T (p.Gln2542Ter)single nucleotide variantPathogenicrs794728276GRCh38Chr 15, 48421633: 48421633
14FBN1NM_000138.4(FBN1): c.8226+5G> Asingle nucleotide variantPathogenicrs193922243GRCh37Chr 15, 48704761: 48704761
15FBN1NM_000138.4(FBN1): c.8599C> T (p.Gln2867Ter)single nucleotide variantPathogenicrs794728288GRCh37Chr 15, 48703204: 48703204
16FBN1NM_000138.4(FBN1): c.1191delG (p.Arg398Aspfs)deletionPathogenicrs794728295GRCh37Chr 15, 48808516: 48808516
17FBN1NM_000138.4(FBN1): c.1679dupG (p.Phe561Leufs)duplicationPathogenicrs794728297GRCh38Chr 15, 48510079: 48510079
18FBN1NM_000138.4(FBN1): c.2180dupG (p.Cys727Trpfs)duplicationPathogenicrs794728299GRCh38Chr 15, 48497379: 48497379
19FBN1NM_000138.4(FBN1): c.2569_2570delGT (p.Val857Hisfs)deletionPathogenicrs794728301GRCh38Chr 15, 48495230: 48495231
20FBN1NM_000138.4(FBN1): c.2601dupT (p.Gly868Trpfs)duplicationPathogenicrs794728302GRCh38Chr 15, 48495199: 48495199
21FBN1NM_000138.4(FBN1): c.2786_2789dupCTAG (p.Arg930Serfs)duplicationPathogenicrs794728305GRCh38Chr 15, 48492526: 48492529
22FBN1NM_000138.4(FBN1): c.3424_3427dupCCTG (p.Gly1143Alafs)duplicationPathogenicrs794728306GRCh38Chr 15, 48487348: 48487351
23FBN1NM_000138.4(FBN1): c.162delA (p.Gly55Aspfs)deletionPathogenicrs794728307GRCh38Chr 15, 48644608: 48644608
24FBN1NM_000138.4(FBN1): c.4429dupG (p.Glu1477Glyfs)duplicationPathogenicrs794728310GRCh38Chr 15, 48470664: 48470664
25FBN1NM_000138.4(FBN1): c.5957dupC (p.Gly1987Argfs)duplicationPathogenicrs794728313GRCh38Chr 15, 48444621: 48444621
26FBN1NM_000138.4(FBN1): c.6163+2dupTduplicationPathogenicrs794728315GRCh38Chr 15, 48441719: 48441719
27FBN1NM_000138.4(FBN1): c.6406_6407dupGT (p.Cys2137Serfs)duplicationPathogenicrs794728317GRCh38Chr 15, 48437050: 48437051
28FBN1NM_000138.4(FBN1): c.6722_6725dupACCG (p.Arg2243Profs)duplicationPathogenicrs794728318GRCh38Chr 15, 48432880: 48432883
29FBN1NM_000138.4(FBN1): c.8154dupT (p.Lys2719Terfs)duplicationPathogenicrs794728321GRCh37Chr 15, 48704838: 48704838
30FBN1NM_000138.4(FBN1): c.8544delA (p.Lys2848Asnfs)deletionPathogenicrs794728323GRCh38Chr 15, 48411062: 48411062
31FBN1NM_000138.4(FBN1): c.225delT (p.Gly76Alafs)deletionPathogenicrs794728324GRCh38Chr 15, 48613032: 48613032
32FBN1NM_000138.4(FBN1): c.1297_1300dupGAAT (p.Tyr434Terfs)duplicationPathogenicrs794728341GRCh38Chr 15, 48516210: 48516213
33NM_002474.2(MYH11): c.4578+2dupTduplicationPathogenicrs794728677GRCh37Chr 16, 15815277: 15815277
34TGFBR2NM_003242.5(TGFBR2): c.1271A> G (p.Tyr424Cys)single nucleotide variantPathogenicrs878854610GRCh38Chr 3, 30674121: 30674121
35ACTA2NM_001613.2(ACTA2): c.536G> A (p.Arg179His)single nucleotide variantPathogenicrs387906592GRCh37Chr 10, 90701066: 90701066
36NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln)single nucleotide variantLikely pathogenic, Pathogenicrs397516685GRCh37Chr 10, 90699437: 90699437
37ACTA2NM_001141945.2(ACTA2): c.115C> T (p.Arg39Cys)single nucleotide variantPathogenicrs112901682GRCh37Chr 10, 90708573: 90708573

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 42)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3TGFBR1, TGFBR2
29.3TGFBR1, TGFBR2
39.3TGFBR1, TGFBR2
49.3TGFBR1, TGFBR2
59.0SMAD3, TGFBR1
69.0SMAD3, TGFBR1
79.0ACTA2, MYH11, MYLK
8
Show member pathways
9.0ACTA2, MYH11, MYLK
9
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
108.7SMAD3, TGFBR1, TGFBR2
11
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
128.7SMAD3, TGFBR1, TGFBR2
138.7SMAD3, TGFBR1, TGFBR2
14
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
15
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
168.7SMAD3, TGFBR1, TGFBR2
178.7SMAD3, TGFBR1, TGFBR2
18
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
19
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
20
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
218.7SMAD3, TGFBR1, TGFBR2
22
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
23
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
248.7SMAD3, TGFBR1, TGFBR2
258.7SMAD3, TGFBR1, TGFBR2
26
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
278.7SMAD3, TGFBR1, TGFBR2
288.7SMAD3, TGFBR1, TGFBR2
298.7SMAD3, TGFBR1, TGFBR2
30
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
31
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
32
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
33
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
34
Show member pathways
8.7SMAD3, TGFBR1, TGFBR2
35
Show member pathways
8.4ACTA2, COL3A1, FBN1, TGFBR1
36
Show member pathways
8.4ACTA2, MYH11, TGFBR1, TGFBR2
37
Show member pathways
8.4ACTA2, MYLK, TGFBR1, TGFBR2
388.3ACTA2, SMAD3, TGFBR1, TGFBR2
398.2COL3A1, SMAD3, TGFBR1, TGFBR2
40
Show member pathways
7.2ACTA2, MYH11, MYLK, SMAD3, TGFBR1, TGFBR2
41
Show member pathways
7.0ACTA2, COL3A1, FBN1, MYH11, MYLK, TGFBR1
42
Show member pathways
6.4ACTA2, COL3A1, FBN1, MYH11, MYLK, SMAD3

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 homodimeric complexGO:00700229.0TGFBR1, TGFBR2
2receptor complexGO:00432358.7SMAD3, TGFBR1, TGFBR2

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1digestive tract developmentGO:004856510.1COL3A1, TGFBR2
2aorta smooth muscle tissue morphogenesisGO:006041410.0COL3A1, MYLK
3smooth muscle contractionGO:000693910.0MYH11, MYLK
4positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.0TGFBR1, TGFBR2
5blood vessel developmentGO:00015689.9COL3A1, TGFBR2
6pathway-restricted SMAD protein phosphorylationGO:00603899.9TGFBR1, TGFBR2
7signal transduction by protein phosphorylationGO:00230149.9TGFBR1, TGFBR2
8response to cholesterolGO:00707239.9TGFBR1, TGFBR2
9ventricular septum morphogenesisGO:00604129.9TGFBR1, TGFBR2
10peptidyl-threonine phosphorylationGO:00181079.8TGFBR1, TGFBR2
11gastrulationGO:00073699.8SMAD3, TGFBR2
12heart loopingGO:00019479.8SMAD3, TGFBR2
13activin receptor signaling pathwayGO:00329249.6SMAD3, TGFBR1
14lens development in camera-type eyeGO:00020889.6TGFBR1, TGFBR2
15cellular response to transforming growth factor beta stimulusGO:00715609.5FBN1, TGFBR1
16positive regulation of stress fiber assemblyGO:00514969.5SMAD3, TGFBR1
17collagen fibril organizationGO:00301999.3COL3A1, TGFBR1
18in utero embryonic developmentGO:00017019.1SMAD3, TGFBR1, TGFBR2
19positive regulation of epithelial to mesenchymal transitionGO:00107189.1SMAD3, TGFBR1, TGFBR2
20embryonic cranial skeleton morphogenesisGO:00487018.9SMAD3, TGFBR1, TGFBR2
21muscle contractionGO:00069368.9ACTA2, MYH11, MYLK
22negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305128.9SMAD3, TGFBR1, TGFBR2
23transforming growth factor beta receptor signaling pathwayGO:00071798.7COL3A1, SMAD3, TGFBR1, TGFBR2
24positive regulation of cell migrationGO:00303358.5MYLK, SMAD3, TGFBR1
25skeletal system developmentGO:00015018.3COL3A1, FBN1, SMAD3, TGFBR1
26wound healingGO:00420608.2COL3A1, SMAD3, TGFBR1, TGFBR2
27heart developmentGO:00075078.2COL3A1, FBN1, TGFBR1, TGFBR2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:000520110.2COL3A1, FBN1
2transforming growth factor beta-activated receptor activityGO:000502410.0TGFBR1, TGFBR2
3receptor signaling protein serine/threonine kinase activityGO:00047029.9TGFBR1, TGFBR2
4transforming growth factor beta bindingGO:00504319.9TGFBR1, TGFBR2
5SMAD bindingGO:00463328.8COL3A1, SMAD3, TGFBR1, TGFBR2
6ATP bindingGO:00055247.9ACTA2, MYH11, MYLK, TGFBR1, TGFBR2

Sources for Thoracic Aortic Aneurysms and Aortic Dissections

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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