AAT1
MCID: ART067
MIFTS: 61

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
SNOMED-CT 67 433068007
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 Acetazolamide and Iodine have been mentioned in the context of this disorder. Affiliated tissues include thoracic aorta, smooth muscle 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.

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 33.3 TGFBR2 TGFBR1 MYH11 FBN1 ELN ACTA2
4 loeys-dietz syndrome 1 32.9 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
5 familial thoracic aortic aneurysm and aortic dissection 32.1 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
6 aortic valve insufficiency 31.8 TGFBR2 TGFBR1 MYH11 FBN1 ELN EFEMP2
7 aortic aneurysm 31.8 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
8 aortic dissection 31.5 TGFBR2 TGFBR1 SMAD3 MYH11 FBN1 ELN
9 marfan syndrome 31.3 TGFBR2 TGFBR1 MYLK MYH11 MMP2 MMP1
10 ehlers-danlos syndrome 31.2 TGFBR1 SLC2A10 MYH11 FBN1 ELN COL3A1
11 aortic aneurysm, familial abdominal, 1 31.0 MMP2 MMP1 FBN1 ELN
12 brittle bone disorder 31.0 FBN1 ELN COL3A1
13 mitral valve disease 30.9 MMP1 FBN1 ELN
14 intracranial aneurysm 30.9 TGFBR2 TGFBR1 MMP2 ELN COL3A1
15 pneumothorax 30.9 MMP2 MMP1 FBN1 ELN
16 moyamoya disease 1 30.8 MYLK MYH11 ELN ACTA2
17 inguinal hernia 30.8 MMP2 MMP1 FBN1 ELN
18 cerebral aneurysms 30.8 MMP2 ELN
19 aneurysm 30.8 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
20 loeys-dietz syndrome 4 30.7 TGFBR2 TGFBR1 SMAD3 SLC2A10 FBN1
21 telangiectasis 30.7 TGFBR1 FBN1 ELN
22 pulmonary emphysema 30.7 MMP2 MMP1 ELN
23 pulmonary fibrosis 30.6 SMAD3 MMP2 MMP1 ELN
24 craniosynostosis 30.6 TGFBR2 TGFBR1 SMAD3 FBN1
25 connective tissue disease 30.6 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 MIR122
26 aortic valve disease 2 30.5 MIR424 FBN1 ELN
27 pulmonary fibrosis, idiopathic 30.4 TGFBR1 SMAD3 MMP2 MMP1 ELN COL3A1
28 loeys-dietz syndrome 3 30.4 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
29 aortic valve disease 1 30.4 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
30 arterial tortuosity syndrome 30.3 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYH11 FBN1
31 loeys-dietz syndrome 30.2 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
32 aortic disease 30.1 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 MMP2
33 heritable thoracic aortic disease 30.0 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 FBN1
34 aortic aneurysm, familial thoracic 4 12.9
35 aortic aneurysm, familial thoracic 9 12.9
36 aortic aneurysm, familial thoracic 11 12.9
37 aortic aneurysm, familial thoracic 10 12.9
38 rare disease with thoracic aortic aneurysm and aortic dissection 12.6
39 multisystemic smooth muscle dysfunction syndrome 12.2
40 loeys-dietz syndrome 2 11.8
41 meester-loeys syndrome 11.8
42 aortic aneurysm, familial thoracic 7 11.6
43 cystic medial necrosis of aorta 11.5
44 paraplegia 10.9
45 vascular disease 10.7
46 late-onset focal dermal elastosis 10.7 FBN1 ELN
47 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.7 FBN1 ELN
48 microcolon 10.6 MYLK MYH11
49 mid-dermal elastolysis 10.6 FBN1 ELN
50 ehlers-danlos syndrome, vascular type 10.6 ELN COL3A1

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 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
4 ascending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0004933
5 descending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0012499
6 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
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 occlusive vascular disease 58 Occasional (29-5%)
21 dilatation of ascending aorta 58 Frequent (79-30%)
22 descending aortic aneurysm 58 Frequent (79-30%)
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 9.9 ACTA2 COL3A1 EFEMP2 FBN1 MMP2 MYH11
2 muscle MP:0005369 9.61 ACTA2 COL3A1 EFEMP2 FBN1 MMP2 MYH11
3 respiratory system MP:0005388 9.23 COL3A1 EFEMP2 FBN1 MMP2 MYH11 SLC2A10

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 70)
# 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
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 diuretics Phase 4
13 Anticonvulsants Phase 4
14 Carbonic Anhydrase Inhibitors Phase 4
15 cadexomer iodine Phase 4
16 Methylprednisolone Acetate Phase 4
17 Pharmaceutical Solutions Phase 4
18 Antigen-Antibody Complex Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Adrenergic Agents Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Analgesics Phase 4
23 Hypnotics and Sedatives Phase 4
24 Adrenergic Agonists Phase 4
25 Neurotransmitter Agents Phase 4
26
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
27
Losartan Approved Phase 3 114798-26-4 3961
28
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
29 Natriuretic Peptide, Brain Phase 3
30 Antihypertensive Agents Phase 3
31 Angiotensin II Type 1 Receptor Blockers Phase 3
32 Angiotensinogen Phase 3
33 Angiotensin Receptor Antagonists Phase 3
34 Giapreza Phase 3
35 Anti-Arrhythmia Agents Phase 3
36
Nicardipine Approved, Investigational Phase 2 55985-32-5 4474
37 Hormones Phase 2
38 Vasodilator Agents Phase 2
39 Calcium, Dietary Phase 2
40 calcium channel blockers Phase 2
41
Calcium Nutraceutical Phase 2 7440-70-2 271
42
Thrombin Approved, Investigational
43 sodium fluoride Approved 7681-49-4
44
Heparin Approved, Investigational 9005-49-6 46507594 772
45
tannic acid Approved 1401-55-4
46
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
47
Atenolol Approved 29122-68-7 2249
48
Captopril Approved 62571-86-2 44093
49
Nicotine Approved 54-11-5 942 89594
50
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943

Interventional clinical trials:

(show top 50) (show all 128)
# 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 Physician-Sponsored IDE for the Talent Endoluminal Stent Graft System for the Treatment of Thoracic Lesions Unknown status NCT00597870
27 Clinical Study of Thoracic Aortic Aneurysm Exclusion Using the VALIANT System Unknown status NCT00549315
28 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
29 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
30 A Clinical Study Evaluating Use of the Thoracic EXCLUDER Endoprosthesis in the Treatment of Descending Thoracic Aortic Diseases Unknown status NCT00546312
31 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
32 Zenith® TX2® Low Profile TAA Endovascular Graft Clinical Study Approved for marketing NCT02471781
33 Zenith TX2® TAA Endovascular Graft Post-approval Study Completed NCT00813358
34 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA) Completed NCT02256163
35 Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176
36 A Clinical Evaluation of the GORE TAG Thoracic Endoprosthesis in the Primary Treatment of Descending Thoracic Aortic Aneurysms Completed NCT00590759
37 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
38 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Completed NCT02204774
39 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
40 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
41 Neurophysiological Intraoperative Monitoring During Aortic Surgery Completed NCT02644681
42 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
43 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
44 Platelet Activity in Vascular Surgery Completed NCT01897103
45 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft in Patients With Thoracic Aortic Pathologies Completed NCT00435942
46 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
47 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
48 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
49 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
50 Development of Ultra-Low Dose CT Based Screening for Aortic Aneurysms Completed NCT03479164

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, Lung, Spinal Cord, Heart, Brain, Endothelial, Testes

Publications for Aortic Aneurysm, Familial Thoracic 1

Articles related to Aortic Aneurysm, Familial Thoracic 1:

(show top 50) (show all 2176)
# 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 6 61
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. 61 54
18388324 2008
20
Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension. 61 54
18264665 2008
21
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. 61 54
17956658 2007
22
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 61 54
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
Imaging Thoracic Aortic Aneurysm. 61
32471540 2020
26
The Impact of the Affordable Care Act Medicaid Expansion on Vascular Surgery. 61
31923598 2020
27
Assessment of the Risk Analysis Index for Prediction of Mortality, Major Complications, and Length of Stay in Patients who Underwent Vascular Surgery. 61
31935435 2020
28
Endovascular Management of a Short-neck Thoracic Aortic Aneurysm With Patent Ductus Arteriosus. 61
32304690 2020
29
Enlargement Rate of the Ascending Aorta After Thoracic Endovascular Aortic Repair. 61
31546005 2020
30
Identification of clinically relevant variants by whole exome sequencing in Chinese patients with sporadic non-syndromic type A aortic dissection. 61
32209317 2020
31
PKM2 Activator TEPP-46 Attenuates Thoracic Aortic Aneurysm and Dissection by Inhibiting NLRP3 Inflammasome-Mediated IL-1β Secretion. 61
32323562 2020
32
LncRNA Sox2ot modulates the progression of thoracic aortic aneurysm by regulating miR-330-5p/Myh11. 61
32578852 2020
33
Smooth Muscle Sirtuin 1 Blocks Thoracic Aortic Aneurysm/Dissection Development in Mice. 61
32564302 2020
34
A case of a gigantic thoracic aortic aneurysm initially mimicking acute coronary syndrome and treated endovascularly. 61
32486632 2020
35
Surgical repair of bicuspid aortopathy at small diameters: Clinical and institutional factors. 61
31543305 2020
36
Replacement of the descending thoracic aortic aneurysm with partial cardiopulmonary bypass in the era of endovascular repair. 61
31749067 2020
37
TGFBR1 Rare Variant Associated With Thoracic Aortic Aneurysm, Double Chamber Left Ventricle, Coronary Anomaly, and Inducible Ventricular Tachycardia. 61
32482137 2020
38
Author Correction: Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing. 61
32528058 2020
39
LncRNA AK131850 is downregulated in thoracic aortic aneurysm and negatively affects the levels of TGF-β1 in aortic smooth muscle cells. 61
32501722 2020
40
Serum Neuron-Specific Enolase Level as Predictor of Neurologic Outcome after Aortic Surgery. 61
30669174 2020
41
Thoracic endovascular aortic repair with true-false-true lumen deployment. 61
32490298 2020
42
The association between simple renal cyst and aortic diseases: A systematic review and meta-analysis of observational studies. 61
32452169 2020
43
Accessing the academic influence of vascular surgeons within the National Institutes of Health iCite database. 61
31831311 2020
44
Screening Chest Computed Tomography is Indicated in All Patients with Abdominal Aortic Aneurysm. 61
31783113 2020
45
Cantu syndrome: A longitudinal review of vascular findings in three individuals. 61
32065455 2020
46
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
47
Open Thoracoabdominal Aortic Repair in Patients With Heritable Aortic Disease in the GenTAC Registry. 61
31568749 2020
48
Ectopia lentis in Loeys-Dietz syndrome type 4. 61
32462795 2020
49
Upregulated sulfatase and downregulated MMP-3 in thoracic aortic aneurysm. 61
32421262 2020
50
[Position dependent dyspnea and cyanosis of the lips at the daily round - A case of Platypnea-Orthodeoxia Syndrome]. 61
32349149 2020

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.1159G>A (p.Val387Met)SNV Conflicting interpretations of pathogenicity 44651 rs35766612 3:30713834-30713834 3:30672342-30672342
4 TGFBR2 NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)SNV Conflicting interpretations of pathogenicity 161394 rs112215250 3:30733044-30733044 3:30691552-30691552
5 MYH11 NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)SNV Conflicting interpretations of pathogenicity 161317 rs150759461 16:15872688-15872688 16:15778831-15778831

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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 FBN1
2
Show member pathways
13.2 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
3
Show member pathways
12.98 TGFBR1 FBN1 ELN EFEMP2 COL3A1 ACTA2
4 12.76 TGFBR2 TGFBR1 SMAD3 MMP2 MMP1
5
Show member pathways
12.59 MMP2 MMP1 FBN1 ELN EFEMP2 COL3A1
6
Show member pathways
12.51 TGFBR2 TGFBR1 MYLK MYH11 MMP2 MMP1
7
Show member pathways
12.44 TGFBR2 TGFBR1 MMP2 MMP1 COL3A1 ACTA2
8
Show member pathways
12.22 TGFBR2 TGFBR1 SMAD3 MMP2
9 11.99 TGFBR1 SMAD3 MYLK ACTA2
10 11.95 TGFBR2 TGFBR1 SMAD3 MMP1
11 11.87 TGFBR2 TGFBR1 SMAD3 MMP2 MMP1
12 11.81 TGFBR2 TGFBR1 SMAD3
13
Show member pathways
11.79 TGFBR2 TGFBR1 SMAD3
14
Show member pathways
11.78 TGFBR2 TGFBR1 SMAD3
15 11.71 TGFBR2 TGFBR1 SMAD3 FBN1
16
Show member pathways
11.7 TGFBR2 TGFBR1 SMAD3
17
Show member pathways
11.67 FBN1 ELN EFEMP2
18 11.66 TGFBR2 TGFBR1 SMAD3
19 11.64 TGFBR2 TGFBR1 SMAD3
20
Show member pathways
11.63 TGFBR2 TGFBR1 SMAD3
21 11.55 MMP2 MMP1 COL3A1
22 11.55 TGFBR2 TGFBR1 SMAD3 MMP2 COL3A1
23 11.52 TGFBR2 TGFBR1 SMAD3
24
Show member pathways
11.49 TGFBR2 TGFBR1 SMAD3 MMP2
25 11.45 TGFBR2 TGFBR1 SMAD3
26 11.45 TGFBR2 TGFBR1 SMAD3 MMP2 ACTA2
27 11.44 TGFBR1 SMAD3 MMP1
28 11.24 MYLK MYH11 ACTA2
29 11.13 TGFBR2 TGFBR1 SMAD3
30 10.95 MYLK FBN1 ELN EFEMP2 COL3A1
31 10.9 TGFBR2 TGFBR1 SMAD3
32 10.89 TGFBR2 TGFBR1
33 10.65 TGFBR2 TGFBR1 SMAD3 FBN1

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 collagen-containing extracellular matrix GO:0062023 9.35 MMP2 FBN1 ELN EFEMP2 COL3A1
2 extracellular matrix GO:0031012 9.02 MMP2 MMP1 FBN1 ELN COL3A1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.84 TGFBR2 TGFBR1 FBN1 COL3A1
2 muscle contraction GO:0006936 9.73 MYLK MYH11 ACTA2
3 skeletal system development GO:0001501 9.71 TGFBR1 SMAD3 FBN1 COL3A1
4 cellular response to transforming growth factor beta stimulus GO:0071560 9.67 TGFBR1 SMAD3 FBN1
5 extracellular matrix organization GO:0030198 9.65 MMP2 MMP1 FBN1 ELN COL3A1
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.62 TGFBR2 TGFBR1 SMAD3 COL3A1
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 TGFBR2 TGFBR1 SMAD3
8 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 TGFBR2 TGFBR1
9 smooth muscle contraction GO:0006939 9.57 MYLK MYH11
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.55 TGFBR2 TGFBR1
11 embryonic cranial skeleton morphogenesis GO:0048701 9.54 TGFBR2 TGFBR1 SMAD3
12 response to cholesterol GO:0070723 9.52 TGFBR2 TGFBR1
13 elastic fiber assembly GO:0048251 9.51 MYH11 EFEMP2
14 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.48 TGFBR2 TGFBR1
15 aorta smooth muscle tissue morphogenesis GO:0060414 9.46 MYLK COL3A1
16 wound healing GO:0042060 9.46 TGFBR2 TGFBR1 SMAD3 COL3A1
17 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.26 TGFBR2 TGFBR1 SMAD3 SLC2A10
18 activin receptor signaling pathway GO:0032924 8.8 TGFBR2 TGFBR1 SMAD3

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 9.37 TGFBR2 TGFBR1
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 TGFBR2 TGFBR1
3 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN1 ELN
4 extracellular matrix structural constituent GO:0005201 9.26 FBN1 ELN EFEMP2 COL3A1
5 transforming growth factor beta-activated receptor activity GO:0005024 9.16 TGFBR2 TGFBR1
6 SMAD binding GO:0046332 8.92 TGFBR2 TGFBR1 SMAD3 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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