AAT1
MCID: ART067
MIFTS: 62

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 56 13
Thoracic Aortic Aneurysm 12 15 17
Annuloaortic Ectasia 56 74 58
Familial Aortic Dissection 74 58
Aortic Aneurysm, Thoracic 43 71
Aortic Aneurysm, Familial Thoracic 56
Cystic Medial Necrosis of Aorta 58
Aortic Dissection, Familial 56
Aneurysm, Thoracic Aortic 56
Aortic Aneurysm Thoracic 54
Aat1 56
Faa1 56

Characteristics:

Orphanet epidemiological data:

58
familial aortic dissection
Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare circulatory system diseases


External Ids:

Disease Ontology 12 DOID:14004
OMIM 56 607086
OMIM Phenotypic Series 56 PS607086
MeSH 43 D017545
NCIt 49 C27001
ICD10 32 I71.2
ICD10 via Orphanet 33 I71.0
UMLS via Orphanet 72 C0392775
Orphanet 58 ORPHA229
MedGen 41 C0345050
UMLS 71 C0162872

Summaries for Aortic Aneurysm, Familial Thoracic 1

OMIM : 56 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 HIF1A-AS1 (HIF1A Antisense RNA 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Iodine and Mannitol have been mentioned in the context of this disorder. Affiliated tissues include thoracic aorta, smooth muscle and heart, and related phenotypes are mucoid extracellular matrix accumulation and cardiomegaly

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

Wikipedia : 74 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 311)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 35.0 TGFBR1 SLC2A10 MYLK MYH11 ACTA2
2 aortic aneurysm, familial thoracic 2 34.7 SLC2A10 FBN1 COL3A1 ACTA2 AAT2
3 patent ductus arteriosus 1 32.9 TGFBR2 TGFBR1 SLC2A10 MYLK MYH11 FBN1
4 loeys-dietz syndrome 1 32.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
5 aortic valve insufficiency 31.9 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
6 familial thoracic aortic aneurysm and dissection 31.7 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
7 aortic aneurysm 31.4 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
8 ehlers-danlos syndrome 31.1 TGFBR1 SLC2A10 MYH11 FBN1 ELN COL3A1
9 marfan syndrome 31.1 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 MMP2
10 aortic aneurysm, familial abdominal, 1 30.9 MMP2 MMP1 FBN1 ELN
11 brittle bone disorder 30.9 FBN1 ELN COL3A1
12 connective tissue disease 30.9 TGFBR2 SMAD3 FBN1 ELN COL3A1 ACTA2
13 pneumothorax 30.8 MMP2 MMP1 FBN1 ELN
14 inguinal hernia 30.8 MMP2 MMP1 FBN1 ELN
15 mitral valve disease 30.8 TGFB2 MMP1 FBN1 ELN
16 cerebral aneurysms 30.8 MMP2 ELN
17 moyamoya disease 1 30.7 TGFBR2 MYLK MYH11 ELN ACTA2
18 intracranial aneurysm 30.7 TGFBR2 TGFBR1 TGFB2 MMP2 ELN COL3A1
19 telangiectasis 30.7 TGFBR1 FBN1 ELN
20 pulmonary emphysema 30.6 MMP2 MMP1 ELN
21 loeys-dietz syndrome 4 30.6 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 FBN1
22 aneurysm 30.5 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
23 loeys-dietz syndrome 3 30.3 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
24 hereditary hemorrhagic telangiectasia 30.3 TGFBR2 TGFBR1 TGFB2
25 aortic valve disease 1 30.2 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
26 pulmonary fibrosis, idiopathic 30.2 TGFBR1 SMAD3 MMP2 MMP1 ELN COL3A1
27 arterial tortuosity syndrome 30.1 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYH11
28 aortic disease 29.8 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
29 loeys-dietz syndrome 29.8 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
30 heritable thoracic aortic disease 29.7 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
31 aortic aneurysm, familial thoracic 4 12.9
32 aortic aneurysm, familial thoracic 9 12.9
33 aortic aneurysm, familial thoracic 11 12.9
34 aortic aneurysm, familial thoracic 10 12.9
35 rare disease with thoracic aortic aneurysm and aortic dissection 12.6
36 loeys-dietz syndrome 2 11.8
37 meester-loeys syndrome 11.8
38 multisystemic smooth muscle dysfunction syndrome 11.8
39 aortic aneurysm, familial thoracic 7 11.6
40 cystic medial necrosis of aorta 11.5
41 vascular disease 10.7
42 late-onset focal dermal elastosis 10.7 FBN1 ELN
43 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.6 FBN1 ELN
44 subclavian artery aneurysm 10.6 TGFBR2 FBN1
45 microcolon 10.6 MYLK MYH11
46 mid-dermal elastolysis 10.6 FBN1 ELN
47 ehlers-danlos syndrome, vascular type 10.6 ELN COL3A1
48 chronic actinic dermatitis 10.6 MMP1 FBN1 ELN
49 spastic entropion 10.6 MMP2 MMP1
50 ureteric orifice cancer 10.6 FBN1 ELN EFEMP2

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:

31 58 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mucoid extracellular matrix accumulation 31 hallmark (90%) HP:0200146
2 cardiomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001640
3 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
4 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
5 ascending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0004933
6 descending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0012499
7 aortic regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0001659
8 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
9 coronary artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0001677
10 left ventricular dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0005162
11 paroxysmal dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0012763
12 aortic root aneurysm 31 frequent (33%) HP:0002616
13 descending thoracic aorta aneurysm 31 frequent (33%) HP:0004959
14 stroke 58 31 occasional (7.5%) Occasional (29-5%) HP:0001297
15 cutis marmorata 58 31 occasional (7.5%) Occasional (29-5%) HP:0000965
16 dilatation of the cerebral artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004944
17 peripheral arterial stenosis 31 occasional (7.5%) HP:0004950
18 carotid artery dilatation 31 occasional (7.5%) HP:0012163
19 aortic dissection 58 Occasional (29-5%)
20 dilatation of ascending aorta 58 Frequent (79-30%)
21 descending aortic aneurysm 58 Frequent (79-30%)
22 occlusive vascular disease 58 Occasional (29-5%)
23 peripheral vascular insufficiency 58 Occasional (29-5%)
24 occlusive arterial disease 58 Occasional (29-5%)
25 carotid artery aneurysm 58 Occasional (29-5%)
26 cystic medial necrosis of the aorta 58 Very frequent (99-80%)

Clinical features from OMIM:

607086

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 ACTA2 COL3A1 EFEMP2 FBN1 MFAP5 MMP2
2 immune system MP:0005387 10.06 COL3A1 FBN1 MFAP5 MMP1 MMP2 MYLK
3 muscle MP:0005369 9.96 ACTA2 COL3A1 EFEMP2 FBN1 MMP2 MYH11
4 digestive/alimentary MP:0005381 9.91 COL3A1 MYH11 MYLK SMAD3 TGFB2 TGFBR1
5 renal/urinary system MP:0005367 9.7 FBN1 MYH11 MYLK SLC2A10 SMAD3 TGFB2
6 respiratory system MP:0005388 9.61 COL3A1 EFEMP2 FBN1 MMP2 MYH11 SLC2A10
7 skeleton MP:0005390 9.28 EFEMP2 FBN1 MFAP5 MMP2 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
Iodine Approved, Investigational Phase 4 7553-56-2 807
2
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
10
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
11 cadexomer iodine Phase 4
12 Pharmaceutical Solutions Phase 4
13 Methylprednisolone Acetate Phase 4
14 Antigen-Antibody Complex Phase 4
15 Hematinics Phase 4
16 Ferric Compounds Phase 4
17 Neurotransmitter Agents Phase 4
18 Central Nervous System Depressants Phase 4
19 Hypnotics and Sedatives Phase 4
20 Adrenergic Agonists Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Adrenergic alpha-2 Receptor Agonists Phase 4
23 Analgesics Phase 4
24 Adrenergic Agents Phase 4
25
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
26
Losartan Approved Phase 3 114798-26-4 3961
27
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
28 Natriuretic Peptide, Brain Phase 3
29 Antihypertensive Agents Phase 3
30 Anti-Arrhythmia Agents Phase 3
31 Angiotensin Receptor Antagonists Phase 3
32 Angiotensin II Type 1 Receptor Blockers Phase 3
33 Giapreza Phase 3
34 Angiotensinogen Phase 3
35
Nicardipine Approved, Investigational Phase 2 55985-32-5 4474
36
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
37
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
38 Hormones Phase 2
39 Calcium, Dietary Phase 2
40 calcium channel blockers Phase 2
41 Vasodilator Agents Phase 2
42
Thrombin Approved, Investigational
43 sodium fluoride Approved 7681-49-4
44
tannic acid Approved 1401-55-4
45
Heparin Approved, Investigational 9005-49-6 772 46507594
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47
Nicotine Approved 54-11-5 942 89594
48
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
49
Isoflurane Approved, Vet_approved 26675-46-7 3763
50 Calamus

Interventional clinical trials:

(show top 50) (show all 122)
# Name Status NCT ID Phase Drugs
1 The Effect of Immunonutrition on Outcome and Postoperative Recovery in Patients Undergoing Elective Surgical Repair of a Thoraco (Abdominal) Aneurysm Aorta Unknown status NCT00339053 Phase 4 Immunonutrition ( Impact)
2 A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair Unknown status NCT01889498 Phase 4 Acetazolamide
3 Endovascular Treatment of Thoracic Aortic Aneurysms Using the TALENT Stent Graft System Completed NCT00802984 Phase 4
4 Comparison of High Iodine Concentration Contrast Material (Isovue 370) vs Standard Protocol (Isovue 300) in Thoracoabdominal Aortic Computed Tomographic Angiography (CTA) for Radiation Dose Reduction Completed NCT02291718 Phase 4 Isovue
5 Effect of Intraoperative Dexmedetomidine on Lung Protection Following Thoracic Aorta Surgery With Hypothermic Circulatory Arrest: a Randomized Clinical Trial Completed NCT02678728 Phase 4 Dexmedetomidine;normal saline
6 CUstodiol Versus RInger: whaT Is the Best Agent? A Randomized Double Blind Trial. Completed NCT02327611 Phase 4 Custodiol;Enriched Ringer's lactate solution
7 Effects of OctaplasLG® on Endothelial Integrity in Patients Undergoing Emergency Surgery for Thoracic Aortic Dissections - a Randomized, Controlled, Single-blinded Investigator-initiated Pilot Trial Completed NCT02253082 Phase 4 OctaplasLG®
8 A Phase IV Double-blind, Randomised, Parallel Group Comparison of the Efficacy and Safety of Preoperative Intravenous Ferric Carboxymaltose and Placebo in the Treatment of Patients Undergoing Elective or Urgent Cardiac Surgery Recruiting NCT03574311 Phase 4 Ferric carboxymaltose
9 Comparison of a Single Dose Fibrinogen With Placebo and the Number of Blood Transfusions After Ascending Aorta Surgery (FIBTEG Study) Terminated NCT02299947 Phase 4 Haemocomplettan P;Placebo
10 Phase 4 Study of Dexmedetomidine for Postoperative Sedation in Patients Undergoing Repair of Thoracoabdominal Aortic Aneurysms Terminated NCT00409344 Phase 4 Dexmedetomidine
11 Prophylactic Use of Nesiritide (Brain Natriuretic Peptide, BNP) for the Prevention of Acute Renal Failure in Thoracic Aortic Aneurysm Surgery Patients Unknown status NCT00110201 Phase 3 Nesiritide
12 Evaluation of the Medtronic Vascular Talent Thoracic Stent Graft System for the Treatment of Thoracic Aortic Aneurysms Completed NCT00604799 Phase 2, Phase 3
13 A Clinical Study of the TAG Thoracic Endoprosthesis in the Treatment of Thoracic Aortic Diseases for Non-Surgical Candidates Under the Physician Sponsored IDE. Completed NCT00757003 Phase 3
14 Multicenter, Randomised, Double Blind Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan Syndrome Terminated NCT00763893 Phase 3 placebo;Losartan
15 Evaluation of the GORE TAG® Thoracic Endoprosthesis - 45 mm for the Primary Treatment of Aneurysms of the Descending Thoracic Aorta Completed NCT00608829 Phase 2
16 A Phase II, Randomized, Placebo-Controlled, Double-Blind (Sponsor Open) Study of GSK1278863, a HIF-Prolyl Hydroxylase Inhibitor, to Reduce Ischemic Events in Patients Undergoing Thoracic Aortic Aneurysm Repair Completed NCT01920594 Phase 2 GSK1278863;Placebo
17 Pharmacokinetics of AP214 Acetate in Patients Undergoing Cardiac Surgery Completed NCT00903604 Phase 2 AP214;Placebo
18 NICardipine Neuroprotection in AortiC Surgery (NICNACS) Terminated NCT00508118 Phase 2 Nicardipine;0.9% saline
19 Safety, Tolerability and Pharmacodynamics of AP214 Acetate in Patients Undergoing Cardiac Surgery Terminated NCT00628264 Phase 2 AP214;Placebo
20 A Phase I Feasibility Study of the TAArget Thoracic Stent Graft for the Treatment of Aneurysms in the Descending Thoracic Aorta Unknown status NCT01033214 Phase 1
21 A Pilot Trial to Evaluate the Performance of the TriVascular Thoracic Stent Graft System Completed NCT01082172 Phase 1
22 Detection of Hypoxia in Human Thoracic Aorta Using Pimonidazole Hydrochloride Recruiting NCT03410420 Phase 1 Pimonidazole hydrochloride
23 Comparison of Carbon Dioxide Flush and Saline Flush to Saline Flush Alone in TEVAR and TAVI Procedures to Reduce Cerebral Ischemia Not yet recruiting NCT03998631 Phase 1
24 A Chinese Registry to Determine the Genetic Risk Factors and Serumal Biomarkers for Thoracic Aortic Aneurysm/Dissection Unknown status NCT03010514
25 Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study Unknown status NCT02010892
26 Clinical Study of Thoracic Aortic Aneurysm Exclusion Using the VALIANT System Unknown status NCT00549315
27 Investigation of the Cerebrospinal Fluid and Further Tissue Samples for Biomarker Indicating Spinal Ischemia and Organ Failure in Patients With Thoracoabdominal Aortic Aneurysm Unknown status NCT03093857
28 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
29 A Clinical Study Evaluating Use of the Thoracic EXCLUDER Endoprosthesis in the Treatment of Descending Thoracic Aortic Diseases Unknown status NCT00546312
30 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft in Patients With Thoracic Aortic Pathologies Approved for marketing NCT01327742
31 Zenith® TX2® Low Profile TAA Endovascular Graft Clinical Study Approved for marketing NCT02471781
32 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA) Completed NCT02256163
33 Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176
34 A Clinical Evaluation of the GORE TAG Thoracic Endoprosthesis in the Primary Treatment of Descending Thoracic Aortic Aneurysms Completed NCT00590759
35 The Valiant Thoracic Stent Graft System. The Evaluation of the Clinical Performance of the Valiant Thoracic Stent Graft System in the Treatment of Descending Thoracic Aneurysms of Degenerative Etiology in Subjects Who Are Candidates for Endovascular Repair. Completed NCT00413231
36 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
37 A Prospective Study on Point-of-Care Focused Cardiac Ultrasound in Assessing for Thoracic Aortic Dimensions, Dilation, and Aneurysm in Correlation With CT Angiogram in Suspected Cases of Pathology Completed NCT01671618
38 Neurophysiological Intraoperative Monitoring During Aortic Surgery Completed NCT02644681
39 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm : Prevalence, Description of the Different Thoracic Aortic Phenotypes by Aortic Volumetric Numerized Imaging and Their Relationship With Epidemiologic, Clinical, Biological and Genetic Factors Completed NCT01599533
40 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
41 Platelet Activity in Vascular Surgery Completed NCT01897103
42 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft in Patients With Thoracic Aortic Pathologies Completed NCT00435942
43 Post Market Surveillance Study Evaluating the Operative Management of Anastomotic Bleeding by Means of an Adjunctive Application of BioFoam Surgical Matrix in Cardiovascular Surgery Completed NCT02164201
44 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
45 RE-GENERATION: An EU Clinical Study to Evaluate the Safety and Performance of the Relay Pro and Relay Non Bare Stent (NBS) Pro Stent-graft Devices in Patients With Thoracic Aortic Pathologies Completed NCT03207568
46 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
47 Development of Ultra-Low Dose CT Based Screening for Aortic Aneurysms Completed NCT03479164
48 A Randomized Controlled Trial of Axillary vs. Innominate Artery Cannulation for Antegrade Cerebral Protection in Aortic Surgery: The ACE Randomized Trial Completed NCT02554032
49 Clinical Application of the Medyria TrackCath System in Endovascular Repair of Abdominal Aortic Aneurysms (AAA) - A Prospective Multi-centre Clinical Trial. Completed NCT04190979
50 A Comparison of Cold Blood Versus Cold Crystalloid Renal Perfusion for Prevention of Acute Renal Failure Following Thoracoabdominal Aortic Aneurysm Repair: A Randomized Study Completed NCT00691756

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

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

19
Thoracic Aorta

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

40
Smooth Muscle, Heart, Lung, Spinal Cord, Kidney, Brain, Endothelial

Publications for Aortic Aneurysm, Familial Thoracic 1

Articles related to Aortic Aneurysm, Familial Thoracic 1:

(show top 50) (show all 2130)
# Title Authors PMID Year
1
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. 61 56
17676603 2007
2
Heritable Thoracic Aortic Disease Overview 61 6
20301299 2003
3
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 6
25173340 2014
4
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 6
24882528 2014
5
Heritable thoracic aortic disorders. 56
24284977 2014
6
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
7
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. 56
11369687 2001
8
Iris flocculi and familial aortic dissection. 56
7575269 1995
9
Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. 56
2006634 1991
10
Familial aortic dissection: a report of rare family cluster. 56
2923761 1989
11
Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall. 56
3276120 1988
12
Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm. 56
913155 1977
13
Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. 56
4112361 1972
14
Familial dissecting aortic aneurysm. A report of three cases within two generations. 56
4228664 1967
15
Association of aortic valvular disease and cystic medial necrosis of the ascending aorta; report of four instances. 56
13447162 1957
16
Dissecting aneurysm of the aorta; review of 29 cases. 56
12980374 1952
17
Dissecting aneurysm o the aorta in mother and child. 56
14848392 1951
18
Serum levels of matrix metalloproteinases -1,-2,-3 and -9 in thoracic aortic diseases and acute myocardial ischemia. 54 61
19886986 2009
19
Long-term doxycycline is more effective than atenolol to prevent thoracic aortic aneurysm in marfan syndrome through the inhibition of matrix metalloproteinase-2 and -9. 54 61
18388324 2008
20
Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension. 54 61
18264665 2008
21
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. 54 61
17956658 2007
22
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 54 61
11826022 2002
23
[Thoracic aortic aneurysm. New evidence for fibrillin-1 involvement]. 54 61
10670197 1999
24
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. 54 61
9723636 1998
25
Network-based analysis reveals novel gene signatures in the peripheral blood of patients with sporadic nonsyndromic thoracic aortic aneurysm. 61
31489966 2020
26
A review of thoracic aortic aneurysm disease. 61
32015897 2020
27
Total Endovascular Aortic arch Replacement with Chimney/Sandwich Techniques. 61
31622748 2020
28
The genetics of aortopathies: Hereditary thoracic aortic aneurysms and dissections. 61
32034893 2020
29
Randomized clinical trial of an elastomeric sealant for hemostasis in thoracic aortic surgery. 61
31300951 2020
30
Chronic mTOR activation induces a degradative smooth muscle cell phenotype. 61
32039915 2020
31
Off-the-Shelf Devices for Treatment of Thoracic Aortic Diseases: Midterm Follow-up of TEVAR With Chimneys or Physician-Made Fenestrations. 61
31789078 2020
32
Wrapping of ascending aortic aneurysm with supra-aortic debranching and endovascular repair for aortic arch aneurysm and ruptured descending thoracic aortic aneurysm. 61
31856350 2020
33
Novel SMAD3 p.Arg386Thr genetic variant co-segregating with thoracic aortic aneurysm and dissection. 61
32022471 2020
34
The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective. 61
31991693 2020
35
Effect of miR-21 on rat thoracic aortic aneurysm model by regulating the expressions of MMP-2 and MMP-9. 61
32016994 2020
36
Prevalence of Obstructive Sleep Apnea in Patients with Thoracic Aortic Aneurysm: A Prospective, Parallel Cohort Study. 61
31553996 2020
37
Thoracic aortic aneurysm in a patient with iris flocculi. 61
31924367 2020
38
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease. 61
31944481 2020
39
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. 61
31980905 2020
40
The Impact of the Affordable Care Act Medicaid Expansion on Vascular Surgery. 61
31923598 2020
41
Cyclophilin A/EMMPRIN Axis Is Involved in Pro-Fibrotic Processes Associated with Thoracic Aortic Aneurysm of Marfan Syndrome Patients. 61
31936351 2020
42
Assessment of Risk Analysis Index for Prediction of Mortality, Major Complications and Length of Stay in Vascular Surgery Patients. 61
31935435 2020
43
Long-Term Outcomes of Open Surgery and Stent Graft Treatment in Patients Undergoing Repeat Thoracic Aortic Aneurysm Repair from Previous Anastomosis Site. 61
31942208 2019
44
Concomitant true and false lumen "parallel thoracic endovascular aortic repair" as an endovascular alternative to open arch/descending aortic reconstruction for chronic DeBakey type I dissection with aneurysmal degeneration. 61
31867472 2019
45
Tortuosity of the Descending Thoracic Aorta in Patients with Aneurysm and Type B Dissection. 61
31873803 2019
46
Transapical aortic perfusion using a deep hypothermic procedure during descending thoracic or thoracoabdominal aortic surgery. 61
31640318 2019
47
Patient-specific predictions of aneurysm growth and remodeling in the ascending thoracic aorta using the homogenized constrained mixture model. 61
31201620 2019
48
Accessing the academic influence of vascular surgeons within the National Institutes of Health iCite database. 61
31831311 2019
49
Bicuspid aortic valve patients show specific epigenetic tissue signature increasing extracellular matrix destruction. 61
31501876 2019
50
AGE-RAGE stress play a role in aortic aneurysm: A comprehensive review and novel potential therapeutic target. 61
31912711 2019

Variations for Aortic Aneurysm, Familial Thoracic 1

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMAD3 NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter)SNV risk factor 549889 rs387906853 15:67473635-67473635 15:67181297-67181297
2 COL3A1 NM_000090.3(COL3A1):c.1897G>A (p.Gly633Arg)SNV risk factor 549890 rs1553508473 2:189862453-189862453 2:188997727-188997727
3 TGFBR2 NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)SNV Conflicting interpretations of pathogenicity 161394 rs112215250 3:30733044-30733044 3:30691552-30691552
4 MYH11 NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)SNV Conflicting interpretations of pathogenicity 161317 rs150759461 16:15872688-15872688 16:15778831-15778831
5 TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)SNV Conflicting interpretations of pathogenicity 44651 rs35766612 3:30713834-30713834 3:30672342-30672342

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

7 (show top 50) (show all 209)
# CNVD ID Chromosome 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 all 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 TGFBR2 TGFBR1 TGFB2 SMAD3 MYLK MYH11
2
Show member pathways
13.23 TGFBR2 TGFBR1 TGFB2 SMAD3 SLC2A10 MYLK
3
Show member pathways
12.98 TGFBR1 TGFB2 FBN1 ELN EFEMP2 COL3A1
4
Show member pathways
12.87 TGFBR2 TGFBR1 TGFB2 MYH11 ACTA2
5
Show member pathways
12.82 TGFBR2 TGFBR1 TGFB2 MYLK ACTA2
6 12.77 TGFBR2 TGFBR1 TGFB2 SMAD3 MMP2 MMP1
7
Show member pathways
12.58 TGFBR2 TGFBR1 MMP2 MMP1 COL3A1 ACTA2
8
Show member pathways
12.54 TGFBR2 TGFBR1 TGFB2 MYLK MYH11 MMP2
9
Show member pathways
12.43 TGFBR2 TGFBR1 TGFB2 SMAD3
10
Show member pathways
12.41 TGFB2 MMP2 MMP1 MFAP5 FBN1 ELN
11 12.31 TGFBR2 TGFBR1 TGFB2 SMAD3
12
Show member pathways
12.2 TGFBR2 TGFBR1 TGFB2 SMAD3
13 12.14 TGFBR2 TGFBR1 TGFB2 SMAD3
14 12.11 TGFBR2 TGFBR1 TGFB2 SMAD3
15
Show member pathways
12.08 TGFBR2 TGFBR1 SMAD3 MMP2
16
Show member pathways
12.05 TGFBR2 TGFBR1 TGFB2 SMAD3
17 12.04 TGFBR1 SMAD3 MYLK ACTA2
18 12.02 TGFBR2 TGFBR1 SMAD3 MMP1
19
Show member pathways
11.99 TGFBR2 TGFBR1 TGFB2 SMAD3
20 11.95 TGFBR2 TGFBR1 TGFB2 SMAD3 MMP2 MMP1
21
Show member pathways
11.83 TGFBR2 TGFBR1 SMAD3
22 11.83 TGFBR2 TGFBR1 TGFB2 SMAD3 FBN1
23 11.82 TGFBR2 TGFBR1 TGFB2 SMAD3
24 11.8 TGFBR1 TGFB2 MMP2
25
Show member pathways
11.74 TGFBR2 TGFBR1 SMAD3
26 11.71 TGFBR2 TGFBR1 SMAD3
27 11.7 TGFBR2 TGFBR1 SMAD3
28
Show member pathways
11.68 TGFBR2 TGFBR1 SMAD3
29 11.62 MMP2 MMP1 COL3A1
30 11.59 TGFBR2 TGFBR1 SMAD3
31 11.58 TGFBR2 TGFBR1 TGFB2 SMAD3 MMP2 ACTA2
32
Show member pathways
11.58 TGFB2 MFAP5 FBN1 ELN EFEMP2
33
Show member pathways
11.57 TGFBR2 TGFBR1 TGFB2 SMAD3 MMP2
34 11.53 TGFBR2 TGFBR1 SMAD3
35 11.53 TGFBR1 SMAD3 MMP1
36 11.5 TGFBR2 TGFBR1 TGFB2
37 11.46 TGFBR2 TGFBR1 TGFB2
38 11.43 TGFBR2 TGFBR1 TGFB2 SMAD3 MMP2 COL3A1
39 11.32 MYLK MYH11 ACTA2
40 11.21 TGFBR2 TGFBR1 TGFB2 SMAD3
41 11.1 TGFBR2 TGFBR1 SMAD3 FBN1
42 11.02 TGFBR2 TGFBR1 SMAD3
43 10.96 TGFB2 MYLK FBN1 ELN EFEMP2 COL3A1

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 MMP2 MMP1 MFAP5 FBN1 ELN COL3A1
2 collagen-containing extracellular matrix GO:0062023 9.17 TGFB2 MMP2 MFAP5 FBN1 ELN EFEMP2
3 microfibril GO:0001527 9.16 MFAP5 FBN1

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.86 TGFBR2 TGFB2 SMAD3 MMP2
2 heart development GO:0007507 9.85 TGFBR2 TGFBR1 TGFB2 FBN1 COL3A1
3 muscle contraction GO:0006936 9.81 MYLK MYH11 ACTA2
4 skeletal system development GO:0001501 9.77 TGFBR1 TGFB2 SMAD3 FBN1 COL3A1
5 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.76 TGFBR2 TGFBR1 SMAD3
6 cellular response to transforming growth factor beta stimulus GO:0071560 9.74 TGFBR1 SMAD3 FBN1
7 extracellular matrix organization GO:0030198 9.73 MMP2 MMP1 MFAP5 FBN1 ELN COL3A1
8 collagen fibril organization GO:0030199 9.72 TGFBR1 TGFB2 COL3A1
9 ventricular septum morphogenesis GO:0060412 9.67 TGFBR2 TGFBR1 TGFB2
10 embryonic cranial skeleton morphogenesis GO:0048701 9.65 TGFBR2 TGFBR1 SMAD3
11 smooth muscle contraction GO:0006939 9.64 MYLK MYH11
12 ventricular trabecula myocardium morphogenesis GO:0003222 9.63 TGFBR1 TGFB2
13 negative regulation of immune response GO:0050777 9.63 TGFB2 COL3A1
14 secondary palate development GO:0062009 9.62 TGFBR2 TGFB2
15 supramolecular fiber organization GO:0097435 9.62 MFAP5 COL3A1
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.62 TGFBR2 TGFBR1 TGFB2 SMAD3
17 cardiac epithelial to mesenchymal transition GO:0060317 9.61 TGFBR1 TGFB2
18 atrioventricular valve morphogenesis GO:0003181 9.61 TGFBR2 TGFB2
19 activin receptor signaling pathway GO:0032924 9.61 TGFBR2 TGFBR1 SMAD3
20 response to cholesterol GO:0070723 9.6 TGFBR2 TGFBR1
21 membranous septum morphogenesis GO:0003149 9.59 TGFBR2 TGFB2
22 elastic fiber assembly GO:0048251 9.58 MYH11 EFEMP2
23 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 TGFBR2 TGFBR1 TGFB2
24 transforming growth factor beta receptor signaling pathway GO:0007179 9.55 TGFBR2 TGFBR1 TGFB2 SMAD3 COL3A1
25 aorta smooth muscle tissue morphogenesis GO:0060414 9.54 MYLK COL3A1
26 regulation of transforming growth factor beta2 production GO:0032909 9.52 TGFB2 SMAD3
27 endocardial cushion fusion GO:0003274 9.51 TGFBR2 TGFB2
28 wound healing GO:0042060 9.35 TGFBR2 TGFBR1 TGFB2 SMAD3 COL3A1
29 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 8.8 TGFBR2 TGFBR1 TGFB2

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

# Name GO ID Score Top Affiliating Genes
1 activin binding GO:0048185 9.4 TGFBR2 TGFBR1
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.37 TGFBR2 TGFBR1
3 extracellular matrix constituent conferring elasticity GO:0030023 9.32 FBN1 ELN
4 transforming growth factor beta-activated receptor activity GO:0005024 9.26 TGFBR2 TGFBR1
5 SMAD binding GO:0046332 9.26 TGFBR2 TGFBR1 SMAD3 COL3A1
6 type II transforming growth factor beta receptor binding GO:0005114 9.16 TGFBR1 TGFB2
7 extracellular matrix structural constituent GO:0005201 9.02 MFAP5 FBN1 ELN EFEMP2 COL3A1

Sources for Aortic Aneurysm, Familial Thoracic 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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