AAT1
MCID: ART067
MIFTS: 67

Aortic Aneurysm, Familial Thoracic 1 (AAT1)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 1

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 1:

Name: Aortic Aneurysm, Familial Thoracic 1 58 13
Thoracic Aortic Aneurysm 12 3 15 17
Annuloaortic Ectasia 58 77 60
Familial Aortic Dissection 77 60
Aortic Aneurysm, Thoracic 45 74
Aortic Aneurysm, Familial Thoracic 58
Cystic Medial Necrosis of Aorta 60
Aortic Dissection, Familial 58
Aneurysm, Thoracic Aortic 58
Aortic Aneurysm Thoracic 56
Aat1 58
Faa1 58

Characteristics:

Orphanet epidemiological data:

60
familial aortic dissection
Age of onset: All ages;

Classifications:



External Ids:

Disease Ontology 12 DOID:14004
OMIM 58 607086
MeSH 45 D017545
NCIt 51 C27001
ICD10 34 I71.2
ICD10 via Orphanet 35 I71.0
UMLS via Orphanet 75 C0392775
Orphanet 60 ORPHA229
MedGen 43 C0345050
UMLS 74 C0162872

Summaries for Aortic Aneurysm, Familial Thoracic 1

OMIM : 58 Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes. Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome. (607086)

MalaCards based summary : Aortic Aneurysm, Familial Thoracic 1, also known as thoracic aortic aneurysm, is related to aortic aneurysm, familial thoracic 6 and aortic aneurysm, familial thoracic 2. An important gene associated with Aortic Aneurysm, Familial Thoracic 1 is SLC12A5-AS1 (SLC12A5 And MMP9 Antisense RNA 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Acetazolamide and Iodine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, heart and lung, and related phenotypes are mucoid extracellular matrix accumulation and cardiomegaly

Disease Ontology : 12 An aortic aneurysm that is located in the thoracic aorta.

CDC : 3 An aortic aneurysm is a balloon-like bulge in the aorta, the large artery that carries blood from the heart through the chest and torso.

Wikipedia : 77 Annuloaortic ectasia is a dilation of the proximal ascending aorta and aortic annulus. It may cause... more...

Related Diseases for Aortic Aneurysm, Familial Thoracic 1

Diseases in the Aortic Aneurysm, Familial Thoracic 1 family:

Aortic Aneurysm, Familial Thoracic 4 Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 6 Aortic Aneurysm, Familial Thoracic 7
Aortic Aneurysm, Familial Thoracic 8 Aortic Aneurysm, Familial Thoracic 9
Aortic Aneurysm, Familial Thoracic 10 Aortic Aneurysm, Familial Thoracic 11

Diseases related to Aortic Aneurysm, Familial Thoracic 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 34.4 ACTA2 MYH11 MYLK
2 aortic aneurysm, familial thoracic 2 33.8 AAT2 ACTA2 FBN1 SLC2A10
3 familial thoracic aortic aneurysm and dissection 32.2 COL3A1 FBN1 SMAD3 TGFBR1 TGFBR2
4 loeys-dietz syndrome 1 31.6 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
5 aortic valve disease 1 30.5 ACTA2 ELN FBN1 TGFBR2
6 marfan syndrome 30.3 ACTA2 COL3A1 ELN FBN1 MMP2 TGFBR1
7 loeys-dietz syndrome 4 29.8 SMAD3 TGFB2 TGFBR1 TGFBR2
8 mitral valve disease 29.8 FBN1 MMP1 TGFB2
9 connective tissue disease 29.7 ACTA2 COL3A1 ELN FBN1
10 aortic aneurysm, familial abdominal, 1 29.6 ELN FBN1 MMP1 MMP2 MMP9
11 pneumothorax 29.4 ELN FBN1 MMP2 MMP9
12 loeys-dietz syndrome 28.7 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
13 loeys-dietz syndrome 3 28.6 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
14 aortic aneurysm 27.5 AAT1 ACTA2 COL3A1 EFEMP2 ELN FBN1
15 aortic disease 27.5 ACTA2 EFEMP2 ELN FBN1 MMP2 MMP9
16 aortic aneurysm, familial thoracic 4 12.8
17 aortic aneurysm, familial thoracic 8 12.8
18 aortic aneurysm, familial thoracic 9 12.8
19 aortic aneurysm, familial thoracic 11 12.8
20 aortic aneurysm, familial thoracic 10 12.8
21 loeys-dietz syndrome 2 11.7
22 meester-loeys syndrome 11.7
23 multisystemic smooth muscle dysfunction syndrome 11.6
24 aortic aneurysm, familial thoracic 7 11.5
25 cystic medial necrosis of aorta 11.3
26 ischemia 10.4
27 paraplegia 10.4
28 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.4 ELN FBN1
29 pectus excavatum 10.4
30 aortic valve insufficiency 10.4
31 late-onset focal dermal elastosis 10.4 ELN FBN1
32 ehlers-danlos syndrome, vascular type 10.3 COL3A1 ELN
33 tricuspid valve prolapse 10.3 FBN1 SMAD3
34 mitral valve insufficiency 10.3
35 ventricular septal defect 10.3
36 dextrocardia 10.3
37 aortic coarctation 10.3
38 mid-dermal elastolysis 10.2 ELN FBN1
39 cerebral aneurysms 10.2 ELN MMP2
40 wiskott-aldrich syndrome 10.2
41 cutis laxa, autosomal recessive, type ib 10.2 EFEMP2 ELN
42 autosomal recessive cutis laxa type iii 10.2 ELN FBN1
43 sorsby fundus dystrophy 10.2 ELN FBN1 MMP2
44 patent ductus arteriosus 1 10.2
45 aberrant subclavian artery 10.2
46 intracranial aneurysm 10.2 COL3A1 ELN MMP2
47 guillain-barre syndrome, familial 10.2
48 exfoliation syndrome 10.2 ELN FBN1 MMP1
49 arteries, anomalies of 10.1
50 lung cancer 10.1

Graphical network of the top 20 diseases related to Aortic Aneurysm, Familial Thoracic 1:



Diseases related to Aortic Aneurysm, Familial Thoracic 1

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 1

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 1:

33 60 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mucoid extracellular matrix accumulation 33 hallmark (90%) HP:0200146
2 cardiomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001640
3 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
4 ascending aortic dissection 60 33 frequent (33%) Frequent (79-30%) HP:0004933
5 descending aortic dissection 60 33 frequent (33%) Frequent (79-30%) HP:0012499
6 chest pain 60 33 frequent (33%) Frequent (79-30%) HP:0100749
7 aortic regurgitation 60 33 frequent (33%) Frequent (79-30%) HP:0001659
8 exertional dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002875
9 left ventricular dysfunction 60 33 frequent (33%) Frequent (79-30%) HP:0005162
10 paroxysmal dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0012763
11 aortic root aneurysm 33 frequent (33%) HP:0002616
12 coronary artery atherosclerosis 33 frequent (33%) HP:0001677
13 descending thoracic aorta aneurysm 33 frequent (33%) HP:0004959
14 stroke 60 33 occasional (7.5%) Occasional (29-5%) HP:0001297
15 cutis marmorata 60 33 occasional (7.5%) Occasional (29-5%) HP:0000965
16 dilatation of the cerebral artery 60 33 occasional (7.5%) Occasional (29-5%) HP:0004944
17 peripheral arterial stenosis 33 occasional (7.5%) HP:0004950
18 carotid artery dilatation 33 occasional (7.5%) HP:0012163
19 aortic dissection 60 Occasional (29-5%)
20 coronary artery disease 60 Frequent (79-30%)
21 dilatation of ascending aorta 60 Frequent (79-30%)
22 descending aortic aneurysm 60 Frequent (79-30%)
23 occlusive vascular disease 60 Occasional (29-5%)
24 peripheral vascular insufficiency 60 Occasional (29-5%)
25 occlusive arterial disease 60 Occasional (29-5%)
26 carotid artery aneurysm 60 Occasional (29-5%)
27 cystic medial necrosis of the aorta 60 Very frequent (99-80%)

Clinical features from OMIM:

607086

MGI Mouse Phenotypes related to Aortic Aneurysm, Familial Thoracic 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.25 ACTA2 COL3A1 EFEMP2 FBN1 MMP2 MMP9
2 immune system MP:0005387 10.11 COL3A1 FBN1 MMP1 MMP2 MMP9 MYLK
3 muscle MP:0005369 10.06 ACTA2 COL3A1 EFEMP2 FBN1 MMP2 MMP9
4 digestive/alimentary MP:0005381 10.01 COL3A1 MMP9 MYH11 MYLK SMAD3 TGFB2
5 neoplasm MP:0002006 9.73 MMP1 MMP2 MMP9 SMAD3 TGFBR1 TGFBR2
6 renal/urinary system MP:0005367 9.7 FBN1 MMP9 MYH11 MYLK SLC2A10 SMAD3
7 respiratory system MP:0005388 9.65 COL3A1 EFEMP2 FBN1 MMP2 MMP9 MYH11
8 skeleton MP:0005390 9.28 EFEMP2 FBN1 MMP2 MMP9 MYLK SMAD3

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 1

Drugs for Aortic Aneurysm, Familial Thoracic 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 66)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Iodine Approved, Investigational Phase 4 7553-56-2 807
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5 Carbonic Anhydrase Inhibitors Phase 4
6 Natriuretic Agents Phase 4,Phase 3
7 diuretics Phase 4
8 Anticonvulsants Phase 4
9 cadexomer iodine Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Adrenergic alpha-Agonists Phase 4
12 Adrenergic Agonists Phase 4
13 Central Nervous System Depressants Phase 4,Not Applicable
14 Adrenergic Agents Phase 4
15 Analgesics Phase 4
16 Hypnotics and Sedatives Phase 4,Not Applicable
17 Neurotransmitter Agents Phase 4,Phase 2
18 Anesthetics Phase 4,Not Applicable
19 Analgesics, Non-Narcotic Phase 4
20 Adrenergic alpha-2 Receptor Agonists Phase 4
21 Narcotics Phase 4
22 Analgesics, Opioid Phase 4
23 Natriuretic Peptide, Brain Phase 3
24
Protein C Approved Phase 1, Phase 2
25
Nicotine Approved Phase 2,Not Applicable 54-11-5 89594 942
26
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951
27
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
28
protease inhibitors Phase 1, Phase 2
29 Protein C Inhibitor Phase 1, Phase 2
30 HIV Protease Inhibitors Phase 1, Phase 2
31 Alpha 1-Antitrypsin Phase 1, Phase 2
32 Trypsin Inhibitors Phase 1, Phase 2
33 Serine Proteinase Inhibitors Phase 1, Phase 2
34 Prolyl-Hydroxylase Inhibitors Phase 2
35 Pharmaceutical Solutions Phase 2
36
Zinc Approved, Investigational Phase 1 7440-66-6 32051
37 Insulin, Globin Zinc Phase 1
38 Hypoglycemic Agents Phase 1
39 insulin Phase 1
40
Simvastatin Approved 79902-63-9 54454
41
Atorvastatin Approved 134523-00-5 60823
42
Warfarin Approved 81-81-2 54678486 6691
43
tannic acid Approved Not Applicable 1401-55-4
44
Heparin Approved, Investigational Not Applicable 9005-49-6 46507594 772
45
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
46
Losartan Approved Not Applicable 114798-26-4 3961
47
Angiotensin II Approved, Investigational Not Applicable 11128-99-7, 68521-88-0, 4474-91-3 172198
48
Isoflurane Approved, Vet_approved Not Applicable 26675-46-7 3763
49
Propofol Approved, Investigational, Vet_approved Not Applicable 2078-54-8 4943
50 Vasoconstrictor Agents

Interventional clinical trials:

(show top 50) (show all 73)
# Name Status NCT ID Phase Drugs
1 Immunonutrition and Thoracoabdominal Aorta Aneurysm Repair Unknown status NCT00339053 Phase 4 Immunonutrition ( Impact)
2 Effectiveness of Acetazolamide in Reducing Paralysis of the Leg in Patients Undergoing Aortic Aneurysm Surgery Surgery Unknown status NCT01889498 Phase 4 Acetazolamide
3 Endovascular Repair of Descending Thoracic Aortic Aneurysms Completed NCT00802984 Phase 4
4 Thoracoabdominal Arortic CTA Study Completed NCT02291718 Phase 4 Isovue
5 Bloodtranfusions After Aortic Surgery Terminated NCT02299947 Phase 4 Haemocomplettan P;Placebo
6 Effect of Intraoperative Dexmedetomidine on Lung Protection Following Thoracic Aorta Surgery With Hypothermic Circulatory Arrest: a Randomized Clinical Trial Recruiting NCT02678728 Phase 4 Dexmedetomidine;normal saline
7 Effects of a Surgery-induced Peripheral Inflammatory Response on the Blood Brain Barrier Completed NCT00878371 Phase 4 morphine
8 The Use of Nesiritide in Thoracic Aneurysm Repair to Prevent Acute Renal Failure Unknown status NCT00110201 Phase 3 Nesiritide
9 VALOR: The Talent Thoracic Stent Graft System Clinical Study Completed NCT00604799 Phase 2, Phase 3
10 Single Dose Administration of Alpha-1 Anti-Trypsin for the Amelioration of Organ Injury in Patients Undergoing Cardiac Surgery Unknown status NCT02191839 Phase 1, Phase 2 Alpha 1-Antitrypsin
11 Tobacco Approach Avoidance Training for Adolescent Smokers-1 Completed NCT01625767 Phase 2
12 Study of GSK1278863 to Reduce Ischemic Events in Patients Undergoing Thoracic Aortic Aneurysm Repair Completed NCT01920594 Phase 2 GSK1278863;Placebo
13 Pharmacokinetics of AP214 Acetate in Patients Undergoing Cardiac Surgery Completed NCT00903604 Phase 2 AP214;Placebo
14 Safety, Tolerability and Pharmacodynamics of AP214 Acetate in Patients Undergoing Cardiac Surgery Terminated NCT00628264 Phase 2 AP214;Placebo
15 ENTRUST - TAArget® Thoracic Stent Graft Clinical Trial Unknown status NCT01033214 Phase 1
16 South American Thoracic Stent-Graft Study Completed NCT01082172 Phase 1
17 Intraoperative Nasal Insulin Effect on Plasma and CSF Insulin Concentration and Blood Glucose Recruiting NCT02729064 Phase 1 Humulin R;Normal Saline
18 Detection of Hypoxia in Human Thoracic Aorta Using Pimonidazole Hydrochloride Recruiting NCT03410420 Phase 1 Pimonidazole hydrochloride
19 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
20 Clinical Study of Thoracic Aortic Aneurysm Exclusion Unknown status NCT00549315 Not Applicable
21 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Unknown status NCT01599533 Not Applicable
22 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. Unknown status NCT02018835 Not Applicable
23 Observational Prospective Transesophageal Myocardial Ultrasound Survey Unknown status NCT02927041
24 Influence of Statins in Artery Aneurysms Unknown status NCT03061487
25 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm Completed NCT02256163
26 Registry Of Acute meDical Emergencies in Brazil Recruiting NCT02753023
27 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
28 Obstructive Sleep Apnoea in Adolescents With Thoracic Aortic Aneurysm Recruiting NCT03400319
29 Post-Approval Clinical Study of the Talent Thoracic Stent Graft to Treat Thoracic Aortic Aneurysms (THRIVE) Active, not recruiting NCT00805948 Not Applicable
30 Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection Recruiting NCT02852603
31 Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study Recruiting NCT02010892
32 STARZ-TX2 Clinical Study: Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176 Not Applicable
33 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Recruiting NCT02204774
34 A Registry Study on Genetics and Biomarkers of Thoracic Aortic Aneurysm/Dissection Recruiting NCT03010514
35 Treatment in Thoracic Aortic Aneurysm: Surgery vs Surveillance Recruiting NCT03536312 Not Applicable
36 RelayPro Thoracic Stent-Graft in Subjects With Thoracic Aortic Aneurysms and Penetrating Atherosclerotic Ulcers Recruiting NCT02818972 Not Applicable
37 Valor II: The Valiant Thoracic Stent Graft System Clinical Study Completed NCT00413231 Not Applicable
38 Biomechanical and Microstructural Properties of Ascending Aortic Aneurysms Recruiting NCT03142074
39 Zenith TX2® Post-market Approval Study Active, not recruiting NCT00813358 Not Applicable
40 The CardiOvascular Remodeling Following Endovascular Aortic Repair (CORE) Study Recruiting NCT02735720
41 Evaluation of the Valiant Mona LSA Thoracic Stent Graft System in Thoracic Aortic Aneurysms and Chronic Dissections Not yet recruiting NCT03738124 Not Applicable
42 Feasibility Study for GORE® TAG® Thoracic Branch Endoprosthesis to Treat Proximal Descending Thoracic Aortic Aneurysms Active, not recruiting NCT02021812 Not Applicable
43 Safety and Efficacy of Valiant Mona LSA Stent Graft System Completed NCT01839695 Not Applicable
44 Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic Lesions Active, not recruiting NCT00597870 Not Applicable
45 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft Approved for marketing NCT01327742
46 Phase II Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft Completed NCT00435942 Not Applicable
47 Evaluation of Valiant Mona LSA Recruiting NCT02365467 Not Applicable
48 Evaluation of the GORE TAG Thoracic Endoprosthesis in the Treatment of Aneurysms Completed NCT00590759 Not Applicable
49 Valiant Evo International Clinical Trial Active, not recruiting NCT02625324 Not Applicable
50 Valiant Evo US Clinical Trial Active, not recruiting NCT02652949 Not Applicable

Search NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 1

Cochrane evidence based reviews: aortic aneurysm, thoracic

Genetic Tests for Aortic Aneurysm, Familial Thoracic 1

Anatomical Context for Aortic Aneurysm, Familial Thoracic 1

MalaCards organs/tissues related to Aortic Aneurysm, Familial Thoracic 1:

42
Smooth Muscle, Heart, Lung, Kidney, Testes, Spinal Cord, Brain

The Foundational Model of Anatomy Ontology organs/tissues related to Aortic Aneurysm, Familial Thoracic 1:

20
The Thoracic Aorta

Publications for Aortic Aneurysm, Familial Thoracic 1

Articles related to Aortic Aneurysm, Familial Thoracic 1:

(show top 50) (show all 799)
# Title Authors Year
1
microRNA expression profile in Smooth Muscle Cells isolated from thoracic aortic aneurysm samples. ( 31022558 )
2019
2
Single-stage repair of thoracic aortic aneurysm and spinal cord compression. ( 31046395 )
2019
3
Greater Aortic Stiffness and Pulsatile Arterial Load Are Associated With Larger Thoracic Aortic Aneurysm Size in Women. ( 30779642 )
2019
4
Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses. ( 30788842 )
2019
5
Relationships Between Phenotype and Function of Blood CD4+ T-Cells and Ascending Thoracic Aortic Aneurysm: an Experimental Study. ( 30810667 )
2019
6
A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm. ( 30848080 )
2019
7
Rapamycin attenuates a murine model of thoracic aortic aneurysm by downregulating the miR-126-3p mediated activation of MAPK/ERK signalling pathway. ( 30904162 )
2019
8
Outcome After Endovascular Repair of Ruptured Descending Thoracic Aortic Aneurysm: A National Multicentre Study. ( 30910493 )
2019
9
Elastin-Specific Autoimmunity in Smokers With Thoracic Aortic Aneurysm and Dissection is Independent of Chronic Obstructive Pulmonary Disease. ( 30957625 )
2019
10
Thoracic Aortic Aneurysm Growth in Bicuspid Aortic Valve Patients: Role of Aortic Stiffness and Pulsatile Hemodynamics. ( 30966855 )
2019
11
A genetic risk score for hypertension is associated with risk of thoracic aortic aneurysm. ( 30659280 )
2019
12
Massive Hemoptysis Due to the Rupture of Thoracic Aortic Aneurysm Caused by Leukemic Cell Infiltration in a Patient With Chronic Myelomonocytic Leukemia. ( 30701008 )
2019
13
Hemodynamic analysis of a novel stent graft design with slit perforations in thoracic aortic aneurysm. ( 30704763 )
2019
14
Correction: A functional variant of SMAD4 enhances macrophage recruitment and inflammatory response via TGF-β signal activation in Thoracic aortic aneurysm and dissection. ( 30710893 )
2019
15
Retrograde autologous priming in surgery of thoracic aortic aneurysm. ( 30726920 )
2019
16
A novel diagnostic system for Doppler ultrasound of the peripheral arteries to detect the presence of thoracic aortic aneurysm. ( 30741670 )
2019
17
Sex Differences in Thoracic Aortic Aneurysm Growth. ( 30571545 )
2019
18
Increasing Incidence of Thoracic Aortic Aneurysm Repair in Germany in the Endovascular Era: Secondary Data Analysis of the Nationwide German DRG Microdata. ( 30220527 )
2019
19
Local variations in material and structural properties characterize murine thoracic aortic aneurysm mechanics. ( 30251206 )
2019
20
Rapamycin prevents thoracic aortic aneurysm and dissection in mice. ( 30253896 )
2019
21
Reflection of pioneers: redo thoracoabdominal aortic aneurysm repair controversies in thoracic aortic aneurysm surgery. ( 30069676 )
2019
22
Open versus Endovascular Repair of Descending Thoracic Aortic Aneurysm Disease: A Systematic Review and Meta-analysis. ( 30081163 )
2019
23
Is there a role for biomarkers in thoracic aortic aneurysm disease? ( 29080094 )
2019
24
Staged Repair of Concomitant Aortic Regurgitation and Descending Thoracic Aortic Aneurysm. ( 30849776 )
2018
25
SmgGDS, a new piece in the thoracic aortic aneurysm and dissection puzzle. ( 30631574 )
2018
26
Challenges in thoracic aortic aneurysm and dissection. ( 30631576 )
2018
27
Vascular Deformation Mapping (VDM) of thoracic aortic aneurysm: an application for color 3D printing in aortic disease. ( 30740444 )
2018
28
Thoracic aortic aneurysm. ( 30370834 )
2018
29
Serum matrix metalloproteinase-9 is a valuable biomarker for identification of abdominal and thoracic aortic aneurysm: a case-control study. ( 30373522 )
2018
30
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. ( 30455415 )
2018
31
Descending thoracic aortic aneurysm revealing metastasis of a soft tissue fibrosarcoma: a case report and review of the literature. ( 30473763 )
2018
32
Re: "Open vs Endovascular Repair of Descending Thoracic Aortic Aneurysm Disease: A Systematic Review and Meta-analysis". ( 30476602 )
2018
33
Appearance of Adipocytes in Thoracic Aortic Aneurysm. ( 30504624 )
2018
34
A case of Brucella aortitis associated with development of thoracic aortic aneurysm and aortobronchial fistula. ( 30513449 )
2018
35
A functional variant of SMAD4 enhances macrophage recruitment and inflammatory response via TGF-β signal activation in Thoracic aortic aneurysm and dissection. ( 30530919 )
2018
36
Statins Reduce Thoracic Aortic Aneurysm Growth in Marfan Syndrome Mice via Inhibition of the Ras-Induced ERK (Extracellular Signal-Regulated Kinase) Signaling Pathway. ( 30571378 )
2018
37
Eosinophilic aortitis with thoracic aortic aneurysm and rupture in a captive-born owl monkey. ( 30187922 )
2018
38
Postnatal deficiency of ADAMTS1 ameliorates thoracic aortic aneurysm and dissection in mice. ( 30191627 )
2018
39
A fatal case of Ortner's syndrome and dysphagia aortica secondary to rapidly expanding mycotic thoracic aortic aneurysm in a chronic kidney disease patient. ( 30214810 )
2018
40
A case report of successful endovascular repair of a giant 15 cm diameter asymptomatic thoracic aortic aneurysm. ( 30248627 )
2018
41
Current challenges in open versus endovascular repair of ruptured thoracic aortic aneurysm. ( 30253895 )
2018
42
Epigenetic influences on genetically triggered thoracic aortic aneurysm. ( 30267337 )
2018
43
A giant thoracic aortic aneurysm causing multiple fistulas and mediastinitis. ( 30336274 )
2018
44
Evaluation of Peak Wall Stress in an Ascending Thoracic Aortic Aneurysm Using FSI Simulations: Effects of Aortic Stiffness and Peripheral Resistance. ( 30341731 )
2018
45
Three-Dimensional Growth Analysis of Thoracic Aortic Aneurysm With Vascular Deformation Mapping. ( 30354496 )
2018
46
Role of Thrombospondin-1 in Mechanotransduction and Development of Thoracic Aortic Aneurysm in Mouse and Humans. ( 30355232 )
2018
47
Pulmonary Artery Compression and Invasion by a Ruptured Giant Thoracic Aortic Aneurysm: A Rare Presentation. ( 30370383 )
2018
48
Wall Shear Stress Estimation of Thoracic Aortic Aneurysm Using Computational Fluid Dynamics. ( 30008797 )
2018
49
The pathogenesis of thoracic aortic aneurysm from hereditary perspective. ( 30030203 )
2018
50
Precise Therapy for Thoracic Aortic Aneurysm in Marfan Syndrome: A Puzzle Nearing Its Solution. ( 30041021 )
2018

Variations for Aortic Aneurysm, Familial Thoracic 1

ClinVar genetic disease variations for Aortic Aneurysm, Familial Thoracic 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh37 Chromosome 3, 30713834: 30713834
2 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh38 Chromosome 3, 30672342: 30672342
3 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh37 Chromosome 3, 30733044: 30733044
4 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh38 Chromosome 3, 30691552: 30691552
5 SMAD3 NM_005902.3(SMAD3): c.715G> T (p.Glu239Ter) single nucleotide variant risk factor rs387906853 GRCh37 Chromosome 15, 67473635: 67473635
6 SMAD3 NM_005902.3(SMAD3): c.715G> T (p.Glu239Ter) single nucleotide variant risk factor rs387906853 GRCh38 Chromosome 15, 67181297: 67181297
7 COL3A1 NM_000090.3(COL3A1): c.1897G> A (p.Gly633Arg) single nucleotide variant risk factor rs1553508473 GRCh37 Chromosome 2, 189862453: 189862453
8 COL3A1 NM_000090.3(COL3A1): c.1897G> A (p.Gly633Arg) single nucleotide variant risk factor rs1553508473 GRCh38 Chromosome 2, 188997727: 188997727

Copy number variations for Aortic Aneurysm, Familial Thoracic 1 from CNVD:

7 (show top 50) (show all 209)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 28788 1 225256 167524929 Loss BLZF1 Thoracic aortic aneurysm
2 28789 1 225256 167524929 Loss C1orf114 Thoracic aortic aneurysm
3 28790 1 225256 167524929 Loss F5 Thoracic aortic aneurysm
4 28791 1 225256 167524929 Loss SLC19A2 Thoracic aortic aneurysm
5 33382 1 449830 113015620 Gain CAPZA1 Thoracic aortic aneurysm
6 33383 1 449830 113015620 Gain FAM19A3 Thoracic aortic aneurysm
7 33384 1 449830 113015620 Gain PPM1J Thoracic aortic aneurysm
8 33385 1 449830 113015620 Gain RHOC Thoracic aortic aneurysm
9 33386 1 449830 113015620 Gain SLC16A1 Thoracic aortic aneurysm
10 33723 1 475171 1142494 Gainb ACAP3 Thoracic aortic aneurysm
11 33724 1 475171 1142494 Gainb ATAD3B Thoracic aortic aneurysm
12 33725 1 475171 1142494 Gainb ATAD3C Thoracic aortic aneurysm
13 33726 1 475171 1142494 Gainb AURKAIP1 Thoracic aortic aneurysm
14 33727 1 475171 1142494 Gainb B3GALT6 Thoracic aortic aneurysm
15 33728 1 475171 1142494 Gainb CCNL2 Thoracic aortic aneurysm
16 33729 1 475171 1142494 Gainb CDC2L1 Thoracic aortic aneurysm
17 33730 1 475171 1142494 Gainb CDC2L2 Thoracic aortic aneurysm
18 33731 1 475171 1142494 Gainb CPSF3L Thoracic aortic aneurysm
19 33732 1 475171 1142494 Gainb DVL1 Thoracic aortic aneurysm
20 33733 1 475171 1142494 Gainb GLTPD1 Thoracic aortic aneurysm
21 33734 1 475171 1142494 Gainb MIB2 Thoracic aortic aneurysm
22 33735 1 475171 1142494 Gainb MMP23B Thoracic aortic aneurysm
23 33736 1 475171 1142494 Gainb MRPL20 Thoracic aortic aneurysm
24 33737 1 475171 1142494 Gainb MXRA8 Thoracic aortic aneurysm
25 33738 1 475171 1142494 Gainb PUSL1 Thoracic aortic aneurysm
26 33739 1 475171 1142494 Gainb SCNN1D Thoracic aortic aneurysm
27 33740 1 475171 1142494 Gainb SDF4 Thoracic aortic aneurysm
28 33741 1 475171 1142494 Gainb SSU72 Thoracic aortic aneurysm
29 33742 1 475171 1142494 Gainb TAS1R3 Thoracic aortic aneurysm
30 33743 1 475171 1142494 Gainb UBE2J2 Thoracic aortic aneurysm
31 33744 1 475171 1142494 Gainb VWA1 Thoracic aortic aneurysm
32 37756 1 94386 111664830 Loss C1orf88 Thoracic aortic aneurysm
33 37757 1 94386 111664830 Loss OVGP1 Thoracic aortic aneurysm
34 38998 10 1073082 68672493 Gain ATOH7 Thoracic aortic aneurysm
35 38999 10 1073082 68672493 Gain CTNNA3 Thoracic aortic aneurysm
36 39000 10 1073082 68672493 Gain DNAJC12 Thoracic aortic aneurysm
37 39001 10 1073082 68672493 Gain HERC4 Thoracic aortic aneurysm
38 39002 10 1073082 68672493 Gain MYPN Thoracic aortic aneurysm
39 39003 10 1073082 68672493 Gain PBLD Thoracic aortic aneurysm
40 39004 10 1073082 68672493 Gain SIRT1 Thoracic aortic aneurysm
41 41305 10 158693 90129215 Loss C10orf59 Thoracic aortic aneurysm
42 45885 10 75066 63577609 Loss RTKN2 Thoracic aortic aneurysm
43 71598 12 729214 60119327 Gain TAFA2 Thoracic aortic aneurysm
44 75135 13 154705 79702503 Gain SPRY2 Thoracic aortic aneurysm
45 85139 14 391832 51343413 Gain C14orf166 Thoracic aortic aneurysm
46 85140 14 391832 51343413 Gain GNG2 Thoracic aortic aneurysm
47 85141 14 391832 51343413 Gain NID2 Thoracic aortic aneurysm
48 86796 14 65485 104688087 Loss BRF1 Thoracic aortic aneurysm
49 86797 14 65485 104688087 Loss JAG2 Thoracic aortic aneurysm
50 86798 14 65485 104688087 Loss NUDT14 Thoracic aortic aneurysm

Expression for Aortic Aneurysm, Familial Thoracic 1

Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 1.

Pathways for Aortic Aneurysm, Familial Thoracic 1

Pathways related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 ACTA2 COL3A1 EFEMP2 ELN FBN1 MYH11
2
Show member pathways
13.27 ACTA2 MYH11 MYLK SLC2A10 SMAD3 TGFB2
3
Show member pathways
13.03 ACTA2 COL3A1 EFEMP2 ELN FBN1 TGFB2
4
Show member pathways
12.97 ACTA2 COL3A1 MMP1 MMP2 MMP9 SMAD3
5
Show member pathways
12.9 ACTA2 MYH11 TGFB2 TGFBR1 TGFBR2
6
Show member pathways
12.85 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
7
Show member pathways
12.85 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
8 12.78 MMP1 MMP2 MMP9 SMAD3 TGFB2 TGFBR1
9
Show member pathways
12.62 COL3A1 EFEMP2 ELN FBN1 MMP1 MMP2
10
Show member pathways
12.57 ACTA2 COL3A1 EFEMP2 ELN FBN1 MMP1
11
Show member pathways
12.49 MMP2 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
12
Show member pathways
12.45 SMAD3 TGFB2 TGFBR1 TGFBR2
13 12.34 SMAD3 TGFB2 TGFBR1 TGFBR2
14
Show member pathways
12.23 SMAD3 TGFB2 TGFBR1 TGFBR2
15 12.17 SMAD3 TGFB2 TGFBR1 TGFBR2
16 12.15 SMAD3 TGFB2 TGFBR1 TGFBR2
17
Show member pathways
12.12 MMP2 SMAD3 TGFBR1 TGFBR2
18
Show member pathways
12.09 SMAD3 TGFB2 TGFBR1 TGFBR2
19 12.08 ACTA2 MYLK SMAD3 TGFBR1
20 12.06 MMP1 SMAD3 TGFBR1 TGFBR2
21
Show member pathways
12.04 SMAD3 TGFB2 TGFBR1 TGFBR2
22 11.99 ACTA2 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
23 11.95 MMP1 MMP2 MMP9
24 11.92 MMP1 MMP2 MMP9 SMAD3 TGFB2 TGFBR1
25
Show member pathways
11.89 MMP1 MMP2 MMP9
26 11.87 SMAD3 TGFB2 TGFBR1 TGFBR2
27
Show member pathways
11.85 SMAD3 TGFBR1 TGFBR2
28 11.83 MMP2 MMP9 TGFB2 TGFBR1
29 11.83 SMAD3 TGFB2 TGFBR1 TGFBR2
30
Show member pathways
11.76 ACTA2 COL3A1 EFEMP2 ELN FBN1 MMP1
31 11.74 MMP1 MMP2 MMP9
32 11.73 SMAD3 TGFBR1 TGFBR2
33 11.73 SMAD3 TGFBR1 TGFBR2
34 11.73 COL3A1 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
35
Show member pathways
11.71 SMAD3 TGFBR1 TGFBR2
36
Show member pathways
11.71 EFEMP2 ELN FBN1 TGFB2
37 11.69 MMP2 MMP9 SMAD3
38 11.66 ELN MMP2 MMP9
39
Show member pathways
11.66 MMP1 MMP2 MMP9
40 11.62 SMAD3 TGFBR1 TGFBR2
41 11.62 COL3A1 MMP1 MMP2 MMP9
42 11.61 ACTA2 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
43 11.56 MMP1 SMAD3 TGFBR1
44 11.56 SMAD3 TGFBR1 TGFBR2
45 11.54 TGFB2 TGFBR1 TGFBR2
46 11.49 TGFB2 TGFBR1 TGFBR2
47
Show member pathways
11.49 MMP2 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
48 11.42 ELN MMP1 MMP9
49 11.38 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
50 11.37 ACTA2 MYH11 MYLK

GO Terms for Aortic Aneurysm, Familial Thoracic 1

Cellular components related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.43 COL3A1 ELN FBN1 MMP1 MMP2 MMP9
2 collagen-containing extracellular matrix GO:0062023 9.1 COL3A1 ELN FBN1 MMP2 MMP9 TGFB2

Biological processes related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.92 MMP9 MYLK SMAD3 TGFBR1
2 extracellular matrix organization GO:0030198 9.88 COL3A1 ELN FBN1 MMP9
3 response to hypoxia GO:0001666 9.86 MMP2 SMAD3 TGFB2 TGFBR2
4 kidney development GO:0001822 9.83 FBN1 TGFB2 TGFBR1
5 muscle contraction GO:0006936 9.83 ACTA2 MYH11 MYLK
6 heart development GO:0007507 9.8 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
7 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.77 SMAD3 TGFBR1 TGFBR2
8 cellular response to transforming growth factor beta stimulus GO:0071560 9.75 FBN1 SMAD3 TGFBR1
9 extracellular matrix disassembly GO:0022617 9.74 MMP1 MMP2 MMP9
10 collagen fibril organization GO:0030199 9.71 COL3A1 TGFB2 TGFBR1
11 embryo implantation GO:0007566 9.7 MMP2 MMP9 TGFBR2
12 smooth muscle contraction GO:0006939 9.65 MYH11 MYLK
13 activin receptor signaling pathway GO:0032924 9.65 SMAD3 TGFBR1
14 ventricular septum morphogenesis GO:0060412 9.65 TGFB2 TGFBR1 TGFBR2
15 transforming growth factor beta receptor signaling pathway GO:0007179 9.65 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
16 ventricular trabecula myocardium morphogenesis GO:0003222 9.64 TGFB2 TGFBR1
17 negative regulation of immune response GO:0050777 9.64 COL3A1 TGFB2
18 secondary palate development GO:0062009 9.63 TGFB2 TGFBR2
19 cardiac epithelial to mesenchymal transition GO:0060317 9.63 TGFB2 TGFBR1
20 collagen catabolic process GO:0030574 9.63 MMP1 MMP2 MMP9
21 atrioventricular valve morphogenesis GO:0003181 9.62 TGFB2 TGFBR2
22 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 SMAD3 TGFB2 TGFBR1 TGFBR2
23 membranous septum morphogenesis GO:0003149 9.61 TGFB2 TGFBR2
24 response to cholesterol GO:0070723 9.61 TGFBR1 TGFBR2
25 embryonic cranial skeleton morphogenesis GO:0048701 9.61 SMAD3 TGFBR1 TGFBR2
26 elastic fiber assembly GO:0048251 9.59 EFEMP2 MYH11
27 aorta smooth muscle tissue morphogenesis GO:0060414 9.55 COL3A1 MYLK
28 wound healing GO:0042060 9.55 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
29 pathway-restricted SMAD protein phosphorylation GO:0060389 9.54 TGFB2 TGFBR1 TGFBR2
30 endocardial cushion fusion GO:0003274 9.51 TGFB2 TGFBR2
31 regulation of transforming growth factor beta2 production GO:0032909 9.49 SMAD3 TGFB2
32 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.13 TGFB2 TGFBR1 TGFBR2
33 skeletal system development GO:0001501 9.1 COL3A1 FBN1 MMP9 SMAD3 TGFB2 TGFBR1

Molecular functions related to Aortic Aneurysm, Familial Thoracic 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase activity GO:0004222 9.58 MMP1 MMP2 MMP9
2 transforming growth factor beta-activated receptor activity GO:0005024 9.37 TGFBR1 TGFBR2
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 TGFBR1 TGFBR2
4 extracellular matrix constituent conferring elasticity GO:0030023 9.26 ELN FBN1
5 extracellular matrix structural constituent GO:0005201 9.26 COL3A1 EFEMP2 ELN FBN1
6 type II transforming growth factor beta receptor binding GO:0005114 9.16 TGFB2 TGFBR1
7 SMAD binding GO:0046332 8.92 COL3A1 SMAD3 TGFBR1 TGFBR2

Sources for Aortic Aneurysm, Familial Thoracic 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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