TAAD
MCID: THR027
MIFTS: 43

Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) malady

Categories: Genetic diseases

Aliases & Classifications for Thoracic Aortic Aneurysms and Aortic Dissections

Aliases & Descriptions for Thoracic Aortic Aneurysms and Aortic Dissections:

Name: Thoracic Aortic Aneurysms and Aortic Dissections 24 29
Thoracic Aortic Aneurysms and Dissection 24
Thoracic Aortic Dissection 24
Taad 24

Classifications:



Summaries for Thoracic Aortic Aneurysms and Aortic Dissections

MalaCards based summary : Thoracic Aortic Aneurysms and Aortic Dissections, also known as thoracic aortic aneurysms and dissection, is related to mfap5-related thoracic aortic aneurysms and aortic dissections and myh11-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/superpathways are ERK Signaling and Integrin Pathway. The drugs Acetazolamide and Dexmedetomidine have been mentioned in the context of this disorder. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and cardiovascular system

Related Diseases for Thoracic Aortic Aneurysms and Aortic Dissections

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)
id Related Disease Score Top Affiliating Genes
1 mfap5-related thoracic aortic aneurysms and aortic dissections 12.3
2 myh11-related thoracic aortic aneurysms and aortic dissections 12.3
3 mylk-related thoracic aortic aneurysms and aortic dissections 12.3
4 smad2-related thoracic aortic aneurysms and aortic dissections 12.3
5 smad3-related thoracic aortic aneurysms and aortic dissections 12.3
6 tgfbr1-related thoracic aortic aneurysms and aortic dissections 12.3
7 tgfbr2-related thoracic aortic aneurysms and aortic dissections 12.3
8 prkg1-related thoracic aortic aneurysms and aortic dissections 12.3
9 acta2-related thoracic aortic aneurysms and aortic dissections 12.3
10 fbn1-related thoracic aortic aneurysms and aortic dissections 12.3
11 familial thoracic aortic aneurysm and dissection 11.3
12 aneurysm 10.3
13 thoracic aortic aneurysm 10.3
14 aortic aneurysm 10.3
15 infective dermatitis associated with htlv-1 10.2 TGFBR1 TGFBR2
16 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.2 COL3A1 FBN1
17 inflammatory breast carcinoma 10.2 TGFBR1 TGFBR2
18 thalassemia minor 10.2 TGFB2 TGFB3
19 legionaire disease 10.1 TGFB2 TGFB3
20 febrile ulceronecrotic mucha-habermann disease 10.1 FBN1 SMAD3 TGFBR1 TGFBR2
21 neuropathy, hereditary sensory and autonomic, type vi 10.1 ACTA2 COL3A1 FBN1 TGFBR2
22 dyslexia 6 10.1 FBN1 FBN2
23 contact lens corneal edema 10.1 FBN1 TGFB2 TGFB3
24 lubani-al saleh-teebi syndrome 10.1 SMAD3 TGFB2 TGFB3
25 human venous malformation 10.0 TGFB2 TGFBR1 TGFBR2
26 johnson hall krous syndrome 10.0 CBS FBN1
27 chronic polyneuropathy 10.0 ACTA2 FBN1 TGFB2 TGFBR1 TGFBR2
28 intellectual developmental disorder with persistence of fetal hemoglobin 9.9 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
29 pneumonia 9.9
30 adenosquamous breast carcinoma 9.8 BGN FBN1 FBN2 TGFBR2
31 clivus meningioma 9.8 ACTA2 COL3A1 FBN1 FBN2 PLOD1
32 mass syndrome 9.8 ACTA2 CBS FBN1 FBN2 TGFBR1 TGFBR2
33 endemic typhus 9.8 ACTA2 FBN1 SMAD3 TGFB2 TGFB3 TGFBR1
34 cavernous malformation 9.7 ACTA2 COL3A1 FBN1 MFAP5 MYH11 MYLK
35 algoneurodystrophy 9.7 ACTA2 COL3A1 FBN1 MYH11 SMAD3 TGFB2
36 central nervous system teratoma 9.6 ACTA2 COL3A1 FBN1 MFAP5 MYH11 MYLK
37 tmem231-related meckel syndrome 7.9 ACTA2 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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.25 TGFBR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.25 TGFB2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10.25 TGFB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.25 PRKG1 TGFBR2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.25 TGFBR2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.25 TGFBR1 TGFBR2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.25 TGFBR1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.25 TGFBR2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 10.25 TGFBR1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.25 PRKG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.25 TGFB2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.25 TGFBR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.25 TGFB2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.25 PRKG1 TGFBR2 TGFB2 TGFBR1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.25 TGFBR2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.25 TGFB2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.25 TGFB2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.25 PRKG1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.25 TGFBR1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.25 TGFBR2
21 Decreased viability GR00107-A-1 10.13 TGFBR2
22 Decreased viability GR00221-A-1 10.13 PRKG1 TGFBR2 COL3A1 TGFBR1 MYLK
23 Decreased viability GR00221-A-2 10.13 PRKG1 COL3A1
24 Decreased viability GR00221-A-3 10.13 TGFBR2
25 Decreased viability GR00221-A-4 10.13 TGFBR2 PRKG1 COL3A1 TGFBR1 MYLK
26 Decreased viability GR00301-A 10.13 PRKG1
27 Transferrin accumulation in the perinuclear area GR00356-A-3 8.8 PRKG1 MYLK TGFBR1

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

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.39 TGFBR2 MYH11 FBN1 MYLK ACTA2 FBN2
2 cellular MP:0005384 10.24 TGFBR2 TGFBR1 COL3A1 MYH11 FBN1 BGN
3 immune system MP:0005387 10.22 TGFBR1 TGFBR2 FBN1 MYLK BGN MAT2A
4 growth/size/body region MP:0005378 10.2 TGFBR2 TGFBR1 COL3A1 MYH11 FBN1 BGN
5 homeostasis/metabolism MP:0005376 10.17 TGFBR2 TGFBR1 COL3A1 MYH11 FBN1 BGN
6 mortality/aging MP:0010768 10.17 TGFBR1 TGFBR2 COL3A1 MYH11 FBN1 BGN
7 digestive/alimentary MP:0005381 10.13 TGFBR1 TGFBR2 COL3A1 MYH11 TGFB3 SMAD3
8 muscle MP:0005369 10.03 TGFBR2 MYH11 FBN1 MYLK ACTA2 BGN
9 limbs/digits/tail MP:0005371 9.91 FBN1 BGN FBN2 TGFB3 SMAD3 PLOD1
10 renal/urinary system MP:0005367 9.7 MYH11 FBN1 PRKG1 SLC2A10 SMAD3 MYLK
11 respiratory system MP:0005388 9.61 TGFBR1 TGFBR2 MYH11 FBN1 FBN2 COL3A1
12 skeleton MP:0005390 9.36 TGFBR1 TGFBR2 MFAP5 FBN1 MYLK FBN2

Drugs & Therapeutics for Thoracic Aortic Aneurysms and Aortic Dissections

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
3 diuretics Phase 4
4 Natriuretic Agents Phase 4
5 Anticonvulsants Phase 4
6 Carbonic Anhydrase Inhibitors Phase 4
7 Antigen-Antibody Complex Phase 4
8 Analgesics Phase 4
9 Adrenergic Agents Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-2 Receptor Agonists Phase 4
12 Adrenergic alpha-Agonists Phase 4
13 Neurotransmitter Agents Phase 4
14 Analgesics, Non-Narcotic Phase 4
15 Anesthetics Phase 4
16 Peripheral Nervous System Agents Phase 4
17 Hypnotics and Sedatives Phase 4
18 Central Nervous System Depressants Phase 4
19
Warfarin Approved 81-81-2 6691 54678486
20
Ethylene 74-85-1 6325

Interventional clinical trials:

(show all 43)
id Name Status NCT ID Phase
1 Effectiveness of Acetazolamide in Reducing Paralysis of the Leg in Patients Undergoing Aortic Aneurysm Surgery Surgery Unknown status NCT01889498 Phase 4
2 Vasculopathic Injury and Plasma as Endothelial Rescue - OCTAplas Trial (EudraCT no. 2014-000452-28) Completed NCT02253082 Phase 4
3 Endovascular Repair of Descending Thoracic Aortic Aneurysms Completed NCT00802984 Phase 4
4 Effect of Intraoperative Dexmedetomidine on Lung Not yet recruiting NCT02678728 Phase 4
5 Long-term Benefit of Aortic Stent-graft in Patients With Distal Aortic Dissection Terminated NCT01354119 Phase 4
6 ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNique Withdrawn NCT01107366 Phase 4
7 Evaluation 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 Procedure Completed NCT01541410 Phase 1, Phase 2
8 Clinical Study of Thoracic Aortic Aneurysm Exclusion Unknown status NCT00549315
9 The Epidemiology of Aortic Diameter in China Unknown status NCT00820378
10 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
11 Point-of-Care Focused Cardiac Ultrasound in Assessing the Thoracic Aorta Completed NCT01671618
12 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
13 Post Market Surveillance Study Evaluating BioFoam Surgical Matrix in Cardiovascular Surgery Completed NCT02164201
14 Risk Factors for Aortic Dissection in the Chinese Patients Completed NCT02267941
15 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
16 Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection Recruiting NCT02852603
17 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Recruiting NCT02204774
18 Hybrid Operation in Thoracic Aortic Dissection Recruiting NCT01500395
19 A Registry Study on Genetics and Biomarkers of Thoracic Aortic Aneurysm/Dissection Recruiting NCT03010514
20 Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic Lesions Recruiting NCT00597870
21 Endovascular Exclusion of Ascending and Thoracic Aortic Pathology Recruiting NCT00583817
22 Genetic Risks for Bicuspid Aortic Valve Disease Recruiting NCT01823432
23 Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study Recruiting NCT02010892
24 Biomechanical and Microstructural Properties of Ascending Aortic Aneurysms Recruiting NCT03142074
25 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Recruiting NCT01599533
26 Endovascular Aortic Repair for Aortic Dissection Recruiting NCT01505309
27 Feasibility of Endovascular Repair Of Ascending Aortic Pathologies Recruiting NCT02201589
28 International Bicuspid Aortic Valve Consortium (BAVCon) Recruiting NCT01980797
29 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822
30 Thoraflex™ Hybrid IDE Study Recruiting NCT02724072
31 Evaluation of the GORE® TAG® Thoracic Branch Endoprosthesis (TBE Device) in the Treatment of Lesions of the Aortic Arch and Descending Thoracic Aorta (Zone 2) Recruiting NCT02777593
32 GORE® TAG® Thoracic Endoprosthesis French Mandatory Registry Recruiting NCT02266342
33 Evaluation 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) Recruiting NCT02777528
34 Visceral Manifold and Unitary Device Study for the Repair of Thoracoabdominal Aortic Aneurysms Recruiting NCT02294435
35 Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study. Recruiting NCT02018835
36 Cardiovascular Health Improvement Project Recruiting NCT02306200
37 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
38 Prospective Follow-up Study of the Aortic Diameter in Patients With Giant Cell Arteritis Recruiting NCT01588483
39 Registry Of Acute meDical Emergencies in Brazil Recruiting NCT02753023
40 Valiant Thoracic Stent Graft With the Captivia Delivery System in the Treatment of Descending Thoracic Aortic Diseases (VALIANT CAPTIVIA France) Active, not recruiting NCT01775046
41 Study 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 Dissections Active, not recruiting NCT01114724
42 Evaluation of Valiant Mona LSA Suspended NCT02365467
43 VALIANT CAPTIVIA Post-market Registry Terminated NCT01181947

Search NIH Clinical Center for Thoracic Aortic Aneurysms and Aortic Dissections

Genetic Tests for Thoracic Aortic Aneurysms and Aortic Dissections

Genetic tests related to Thoracic Aortic Aneurysms and Aortic Dissections:

id Genetic test Affiliating Genes
1 Thoracic Aortic Aneurysm and Aortic Dissection 29
2 Thoracic Aortic Aneurysms and Aortic Dissections 24 TGFBR2

Anatomical Context for Thoracic Aortic Aneurysms and Aortic Dissections

Publications for Thoracic Aortic Aneurysms and Aortic Dissections

Articles related to Thoracic Aortic Aneurysms and Aortic Dissections:

id Title Authors Year
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

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

6 (show top 50) (show all 116)
id Gene Variation Type Significance SNP ID Assembly Location
1 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh37 Chromosome 21, 44483184: 44483184
2 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh37 Chromosome 21, 44480638: 44480638
3 SLC2A10 NM_030777.3(SLC2A10): c.1334delG (p.Gly445Glufs) deletion Pathogenic rs587776600 GRCh37 Chromosome 20, 45355548: 45355548
4 TGFBR2 NM_003242.5(TGFBR2): c.1378C> T (p.Arg460Cys) single nucleotide variant Pathogenic rs104893811 GRCh37 Chromosome 3, 30715720: 30715720
5 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893819 GRCh37 Chromosome 3, 30729962: 30729962
6 TGFBR1 NM_004612.3(TGFBR1): c.722C> T (p.Ser241Leu) single nucleotide variant Pathogenic/Likely pathogenic rs111854391 GRCh37 Chromosome 9, 101900288: 101900288
7 TGFBR1 NM_004612.3(TGFBR1): c.1460G> A (p.Arg487Gln) single nucleotide variant Pathogenic rs113605875 GRCh37 Chromosome 9, 101911535: 101911535
8 TGFBR1 NM_004612.3(TGFBR1): c.1459C> T (p.Arg487Trp) single nucleotide variant Pathogenic rs111426349 GRCh37 Chromosome 9, 101911534: 101911534
9 MYH11 NM_022844.2(MYH11): c.2135G> A (p.Arg712Gln) single nucleotide variant Pathogenic/Likely pathogenic rs267606902 GRCh37 Chromosome 16, 15841949: 15841949
10 FBN1 NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter) single nucleotide variant Pathogenic rs137854466 GRCh37 Chromosome 15, 48703477: 48703477
11 FBN1 NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr) single nucleotide variant Pathogenic rs137854469 GRCh37 Chromosome 15, 48777615: 48777615
12 FBN1 NM_000138.4(FBN1): c.6354C> T (p.Ile2118=) single nucleotide variant Pathogenic/Likely pathogenic rs112989722 GRCh37 Chromosome 15, 48729544: 48729544
13 ACTA2 NM_001613.2(ACTA2): c.445C> T (p.Arg149Cys) single nucleotide variant Pathogenic rs121434526 GRCh37 Chromosome 10, 90701551: 90701551
14 ACTA2 NM_001613.2(ACTA2): c.772C> T (p.Arg258Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121434528 GRCh37 Chromosome 10, 90699300: 90699300
15 ACTA2 NM_001613.2(ACTA2): c.536G> A (p.Arg179His) single nucleotide variant Pathogenic rs387906592 GRCh37 Chromosome 10, 90701066: 90701066
16 TGFBR1 NM_004612.3(TGFBR1): c.1240C> T (p.Arg414Ter) single nucleotide variant Pathogenic,risk factor rs387906697 GRCh37 Chromosome 9, 101908876: 101908876
17 FBN1 NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193921256 GRCh37 Chromosome 15, 48787772: 48787772
18 FBN1 NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys) single nucleotide variant Pathogenic rs111401431 GRCh37 Chromosome 15, 48760294: 48760294
19 FBN1 NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr) single nucleotide variant Pathogenic/Likely pathogenic rs193922228 GRCh37 Chromosome 15, 48722933: 48722933
20 FBN1 NM_000138.4(FBN1): c.1468+5G> A single nucleotide variant Pathogenic rs397515757 GRCh37 Chromosome 15, 48807579: 48807579
21 FBN1 NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter) single nucleotide variant Pathogenic rs113812345 GRCh37 Chromosome 15, 48805788: 48805788
22 FBN1 NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter) single nucleotide variant Pathogenic rs111231312 GRCh37 Chromosome 15, 48760267: 48760267
23 FBN1 NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter) single nucleotide variant Pathogenic rs113249837 GRCh37 Chromosome 15, 48748888: 48748888
24 FBN1 NM_000138.4(FBN1): c.643C> T (p.Arg215Ter) single nucleotide variant Pathogenic rs111687884 GRCh37 Chromosome 15, 48829901: 48829901
25 ACTA2 NM_001613.2(ACTA2): c.635G> A (p.Arg212Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516685 GRCh37 Chromosome 10, 90699437: 90699437
26 ACTA2 NM_001141945.2(ACTA2): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs112901682 GRCh37 Chromosome 10, 90708573: 90708573
27 PRKG1 NM_001098512.2(PRKG1): c.530G> A (p.Arg177Gln) single nucleotide variant Pathogenic rs397515330 GRCh37 Chromosome 10, 53227579: 53227579
28 MYH11 NM_002474.2(MYH11): c.3791T> C (p.Leu1264Pro) single nucleotide variant Pathogenic rs201831933 GRCh38 Chromosome 16, 15726915: 15726915
29 COL3A1 NM_000090.3(COL3A1): c.1662+1G> A (p.Gly537_Pro554del) single nucleotide variant Pathogenic rs587779535 GRCh37 Chromosome 2, 189860905: 189860905
30 COL3A1 NM_000090.3(COL3A1): c.970G> A (p.Gly324Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587779650 GRCh37 Chromosome 2, 189856928: 189856928
31 COL3A1 NM_000090.3(COL3A1): c.2096G> A (p.Gly699Asp) single nucleotide variant Pathogenic rs587779706 GRCh37 Chromosome 2, 189864084: 189864084
32 SLC2A10 NM_030777.3(SLC2A10): c.685C> T (p.Arg229Ter) single nucleotide variant Pathogenic rs756457861 GRCh37 Chromosome 20, 45354360: 45354360
33 SLC2A10 NM_030777.3(SLC2A10): c.692G> A (p.Arg231Gln) single nucleotide variant Pathogenic/Likely pathogenic rs771028960 GRCh37 Chromosome 20, 45354367: 45354367
34 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
35 FBN1 NM_000138.4(FBN1): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic rs112645512 GRCh37 Chromosome 15, 48808422: 48808422
36 FBN1 NM_000138.4(FBN1): c.8544delA (p.Lys2848Asnfs) deletion Pathogenic rs794728323 GRCh38 Chromosome 15, 48411062: 48411062
37 FBN1 NM_000138.4(FBN1): c.8154dupT (p.Lys2719Terfs) duplication Pathogenic rs794728321 GRCh37 Chromosome 15, 48704838: 48704838
38 FBN1 NM_000138.4(FBN1): c.6722_6725dupACCG (p.Arg2243Profs) duplication Pathogenic rs794728318 GRCh38 Chromosome 15, 48432880: 48432883
39 FBN1 NM_000138.4(FBN1): c.6406_6407dupGT (p.Cys2137Serfs) duplication Pathogenic rs794728317 GRCh38 Chromosome 15, 48437050: 48437051
40 FBN1 NM_000138.4(FBN1): c.6169C> T (p.Arg2057Ter) single nucleotide variant Pathogenic rs763091520 GRCh38 Chromosome 15, 48437912: 48437912
41 FBN1 NM_000138.4(FBN1): c.6163+2dupT duplication Pathogenic rs794728315 GRCh38 Chromosome 15, 48441719: 48441719
42 FBN1 NM_000138.4(FBN1): c.5957dupC (p.Gly1987Argfs) duplication Pathogenic rs794728313 GRCh38 Chromosome 15, 48444621: 48444621
43 FBN1 NM_000138.4(FBN1): c.4930C> T (p.Arg1644Ter) single nucleotide variant Pathogenic rs140630 GRCh38 Chromosome 15, 48465580: 48465580
44 FBN1 NM_000138.4(FBN1): c.4429dupG (p.Glu1477Glyfs) duplication Pathogenic rs794728310 GRCh38 Chromosome 15, 48470664: 48470664
45 FBN1 NM_000138.4(FBN1): c.3424_3427dupCCTG (p.Gly1143Alafs) duplication Pathogenic rs794728306 GRCh37 Chromosome 15, 48779545: 48779548
46 FBN1 NM_000138.4(FBN1): c.3344A> G (p.Asp1115Gly) single nucleotide variant Pathogenic/Likely pathogenic rs794728203 GRCh38 Chromosome 15, 48487431: 48487431
47 FBN1 NM_000138.4(FBN1): c.2786_2789dupCTAG (p.Arg930Serfs) duplication Pathogenic rs794728305 GRCh38 Chromosome 15, 48492526: 48492529
48 FBN1 NM_000138.4(FBN1): c.2601dupT (p.Gly868Trpfs) duplication Pathogenic rs794728302 GRCh38 Chromosome 15, 48495199: 48495199
49 FBN1 NM_000138.4(FBN1): c.2569_2570delGT (p.Val857Hisfs) deletion Pathogenic rs794728301 GRCh38 Chromosome 15, 48495230: 48495231
50 FBN1 NM_000138.4(FBN1): c.2180dupG (p.Cys727Trpfs) duplication Pathogenic rs794728299 GRCh38 Chromosome 15, 48497379: 48497379

Expression for Thoracic Aortic Aneurysms and Aortic Dissections

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

Pathways for Thoracic Aortic Aneurysms and Aortic Dissections

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

(show all 50)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
2
Show member pathways
13.35 ACTA2 COL3A1 FBN1 FBN2 MYH11 MYLK
3
Show member pathways
13.25 ACTA2 MYH11 MYLK SLC2A10 SMAD3 TGFB2
4
Show member pathways
13.05 ACTA2 COL3A1 FBN1 FBN2 TGFB2 TGFB3
5
Show member pathways
12.91 ACTA2 MYH11 PRKG1 TGFB2 TGFB3 TGFBR1
6
Show member pathways
12.88 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
7
Show member pathways
12.87 ACTA2 MYLK TGFB2 TGFB3 TGFBR1 TGFBR2
8 12.67 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
9
Show member pathways
12.6 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
10
Show member pathways
12.55 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
11
Show member pathways
12.51 BGN COL3A1 FBN1 FBN2 MFAP5 PLOD1
12
Show member pathways
12.48 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
13 12.45 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
14 12.43 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
15
Show member pathways
12.35 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
16 12.23 SMAD3 TGFB2 TGFB3 TGFBR1
17
Show member pathways
12.22 SMAD3 TGFB2 TGFBR1 TGFBR2
18 12.19 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
19 12.15 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
20 12.1 ACTA2 MYLK SMAD3 TGFBR1
21
Show member pathways
12.09 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
22
Show member pathways
12.06 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
23 11.97 COL3A1 MYLK PRKG1
24
Show member pathways
11.9 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
25 11.89 ACTA2 BGN TGFB2 TGFB3
26 11.88 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
27 11.86 COL3A1 TGFB2 TGFB3
28
Show member pathways
11.84 SMAD3 TGFBR1 TGFBR2
29 11.81 TGFB2 TGFB3 TGFBR1
30 11.78 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
31
Show member pathways
11.76 SMAD3 TGFBR1 TGFBR2
32 11.72 SMAD3 TGFBR1 TGFBR2
33 11.72 SMAD3 TGFBR1 TGFBR2
34
Show member pathways
11.71 SMAD3 TGFBR1 TGFBR2
35
Show member pathways
11.63 FBN1 FBN2 MFAP5 TGFB2 TGFB3
36 11.63 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
37 11.62 SMAD3 TGFBR1 TGFBR2
38 11.61 BGN TGFB2 TGFB3
39 11.61 ACTA2 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
40 11.57 SMAD3 TGFB3 TGFBR1 TGFBR2
41 11.53 TGFB2 TGFBR1 TGFBR2
42
Show member pathways
11.42 SMAD3 TGFB2 TGFBR1 TGFBR2
43 11.38 ACTA2 MYH11 MYLK
44
Show member pathways
11.24 TGFB3 TGFBR1 TGFBR2
45 11.21 TGFB3 TGFBR1 TGFBR2
46 11.09 SMAD3 TGFBR1 TGFBR2
47 10.94 TGFB2 TGFB3 TGFBR1 TGFBR2
48 10.88 TGFB2 TGFB3
49 10.83 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
50 10.42 FBN1 FBN2 SMAD3 TGFBR1 TGFBR2

GO Terms for Thoracic Aortic Aneurysms and Aortic Dissections

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.87 ACTA2 BGN COL3A1 FBN1 MFAP5 TGFB2
2 proteinaceous extracellular matrix GO:0005578 9.65 BGN COL3A1 FBN1 FBN2 MFAP5
3 extracellular matrix GO:0031012 9.43 BGN COL3A1 FBN1 FBN2 TGFB2 TGFB3
4 transforming growth factor beta receptor complex GO:0070022 9.16 TGFBR1 TGFBR2
5 microfibril GO:0001527 8.8 FBN1 FBN2 MFAP5

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

(show all 49)
id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.96 SMAD3 TGFB3 TGFBR1 TGFBR2
2 heart development GO:0007507 9.89 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
3 muscle contraction GO:0006936 9.87 ACTA2 MYH11 MYLK
4 kidney development GO:0001822 9.87 FBN1 TGFB2 TGFBR1
5 response to hypoxia GO:0001666 9.85 PLOD1 SMAD3 TGFB2 TGFB3 TGFBR2
6 SMAD protein signal transduction GO:0060395 9.83 SMAD3 TGFB2 TGFB3
7 cellular response to transforming growth factor beta stimulus GO:0071560 9.82 FBN1 SMAD3 TGFBR1
8 signal transduction by protein phosphorylation GO:0023014 9.82 TGFB2 TGFBR1 TGFBR2
9 blood vessel development GO:0001568 9.81 COL3A1 TGFB2 TGFBR2
10 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.8 TGFB2 TGFB3 TGFBR1
11 positive regulation of stress fiber assembly GO:0051496 9.8 SMAD3 TGFB3 TGFBR1
12 collagen fibril organization GO:0030199 9.78 COL3A1 TGFB2 TGFBR1
13 palate development GO:0060021 9.78 TGFB2 TGFB3 TGFBR1 TGFBR2
14 skeletal system development GO:0001501 9.77 COL3A1 FBN1 SMAD3 TGFB2 TGFBR1
15 positive regulation of bone mineralization GO:0030501 9.75 FBN2 SMAD3 TGFB3
16 embryonic cranial skeleton morphogenesis GO:0048701 9.74 SMAD3 TGFBR1 TGFBR2
17 digestive tract development GO:0048565 9.73 COL3A1 TGFB3 TGFBR2
18 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.73 SMAD3 TGFB3 TGFBR1 TGFBR2
19 extracellular matrix organization GO:0030198 9.73 BGN COL3A1 FBN1 FBN2 MFAP5 TGFB2
20 ventricular septum morphogenesis GO:0060412 9.72 TGFB2 TGFBR1 TGFBR2
21 smooth muscle contraction GO:0006939 9.71 MYH11 MYLK
22 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 TGFBR1 TGFBR2
23 activin receptor signaling pathway GO:0032924 9.7 SMAD3 TGFBR1
24 ventricular trabecula myocardium morphogenesis GO:0003222 9.7 TGFB2 TGFBR1
25 negative regulation of immune response GO:0050777 9.69 COL3A1 TGFB2
26 cell-cell junction organization GO:0045216 9.69 SMAD3 TGFB2 TGFB3
27 cardiac epithelial to mesenchymal transition GO:0060317 9.68 TGFB2 TGFBR1
28 supramolecular fiber organization GO:0097435 9.68 COL3A1 MFAP5
29 positive regulation of SMAD protein import into nucleus GO:0060391 9.68 TGFB3 TGFBR1
30 atrioventricular valve morphogenesis GO:0003181 9.68 TGFB2 TGFBR2
31 embryonic eye morphogenesis GO:0048048 9.67 FBN1 FBN2
32 salivary gland morphogenesis GO:0007435 9.67 TGFB2 TGFB3
33 membranous septum morphogenesis GO:0003149 9.67 TGFB2 TGFBR2
34 SMAD protein import into nucleus GO:0007184 9.66 TGFB2 TGFB3
35 response to cholesterol GO:0070723 9.66 TGFBR1 TGFBR2
36 negative regulation of macrophage cytokine production GO:0010936 9.63 TGFB2 TGFB3
37 wound healing GO:0042060 9.63 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
38 regulation of cellular response to growth factor stimulus GO:0090287 9.62 FBN1 FBN2
39 regulation of transforming growth factor beta2 production GO:0032909 9.61 SMAD3 TGFB2
40 endocardial cushion fusion GO:0003274 9.6 TGFB2 TGFBR2
41 aorta smooth muscle tissue morphogenesis GO:0060414 9.59 COL3A1 MYLK
42 sequestering of TGFbeta in extracellular matrix GO:0035583 9.58 FBN1 FBN2
43 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 TGFB2 TGFBR1 TGFBR2
44 uterine wall breakdown GO:0042704 9.54 TGFB2 TGFB3
45 positive regulation of occluding junction disassembly GO:1905075 9.52 TGFB3 TGFBR1
46 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.5 TGFB2 TGFBR1 TGFBR2
47 positive regulation of epithelial to mesenchymal transition GO:0010718 9.35 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
48 transforming growth factor beta receptor signaling pathway GO:0007179 9.1 COL3A1 SMAD3 TGFB2 TGFB3 TGFBR1 TGFBR2
49 protein phosphorylation GO:0006468 10.1 MYLK PRKG1 TGFB2 TGFBR1 TGFBR2

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.61 TGFB2 TGFBR1 TGFBR2
2 transforming growth factor beta receptor binding GO:0005160 9.54 SMAD3 TGFB2 TGFB3
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.49 TGFBR1 TGFBR2
4 type I transforming growth factor beta receptor binding GO:0034713 9.48 TGFB3 TGFBR2
5 transforming growth factor beta-activated receptor activity GO:0005024 9.46 TGFBR1 TGFBR2
6 SMAD binding GO:0046332 9.46 COL3A1 SMAD3 TGFBR1 TGFBR2
7 transforming growth factor beta binding GO:0050431 9.43 TGFB3 TGFBR1 TGFBR2
8 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN1 FBN2
9 type III transforming growth factor beta receptor binding GO:0034714 9.32 TGFB2 TGFB3
10 type II transforming growth factor beta receptor binding GO:0005114 9.13 TGFB2 TGFB3 TGFBR1
11 extracellular matrix structural constituent GO:0005201 9.02 BGN COL3A1 FBN1 FBN2 MFAP5
12 ATP binding GO:0005524 10.05 ACTA2 MAT2A MYH11 MYLK PRKG1 TGFBR1

Sources for Thoracic Aortic Aneurysms and Aortic Dissections

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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