Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: ART067
MIFTS: 66

Aortic Aneurysm, Familial Thoracic 1

Categories: Cardiovascular diseases, Rare diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 1

About this section

MalaCards integrated aliases for Aortic Aneurysm, Familial Thoracic 1:

Name: Aortic Aneurysm, Familial Thoracic 1 57 13
Thoracic Aortic Aneurysm 12 3 15
Annuloaortic Ectasia 57 76 59
Familial Aortic Dissection 76 59
Aortic Aneurysm, Thoracic 44 73
Aortic Aneurysm, Familial Thoracic 57
Cystic Medial Necrosis of Aorta 59
Aortic Dissection, Familial 57
Aneurysm, Thoracic Aortic 57
Aortic Aneurysm Thoracic 55
Aat1 57
Faa1 57

Characteristics:

Orphanet epidemiological data:

59
familial aortic dissection
Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Orphanet: 59  
Rare circulatory system diseases


External Ids:

OMIM 57 607086
Disease Ontology 12 DOID:14004
MeSH 44 D017545
NCIt 50 C27001
SNOMED-CT 68 155421001 433068007
Orphanet 59 ORPHA229
ICD10 via Orphanet 34 I71.0
UMLS via Orphanet 74 C0392775
MedGen 42 C0345050
ICD10 33 I71.2
UMLS 73 C0162872
Sources

Summaries for Aortic Aneurysm, Familial Thoracic 1

About this section
OMIM : 57 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 4 and aortic aneurysm, familial thoracic 6. An important gene associated with Aortic Aneurysm, Familial Thoracic 1 is SLC12A5-AS1 (SLC12A5 And MMP9 Antisense RNA 1
By tissue specificity analysis, we found that 5 lncRNAs (HIF1A-AS1, RP11-465L10.10, LOC100506472, CTD-2184D3.5 and RP-399O19.5) were highly expressed in aortic tissues, suggested that they may be closely associated with TAA. Among them, 2 lncRNAs (RP11-465L10.10 and CTD-2184D3.5) with higher specificity in aorta (p < 0.01) were analyzed by bioinformatics. Further catRAPID analysis revealed a strong RNA-protein interaction between RP11-465L10.10 and myeloid zinc finger gene 1 (MZF1), a transcription factor of MMP9. However, no intense RNA-protein interactions were observed between CTD-2184D3.5 and transcript factors of MAPK6.
Dysfunction Pattern: Expression [high expression]), 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 the thoracic aorta, smooth muscle and lung, and related phenotypes are cutis marmorata and stroke

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

CDC : 3 Thoracic Aortic Aneurysms

Wikipedia : 76 Annuloaortic ectasia is a dilation of the proximal ascending aorta and aortic annulus. It may cause... more...

Sources

Related Diseases for Aortic Aneurysm, Familial Thoracic 1

About this section

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 74)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 4 35.0 FBN1 MYH11
2 aortic aneurysm, familial thoracic 6 34.3 ACTA2 MYH11 MYLK
3 aortic aneurysm, familial thoracic 2 33.7 AAT2 ACTA2 FBN1 SLC2A10
4 loeys-dietz syndrome 1 33.0 TGFBR1 TGFBR2
5 familial thoracic aortic aneurysm and dissection 31.8 FBN1 SMAD3 TGFBR1 TGFBR2
6 marfan syndrome 28.7 ACTA2 COL3A1 ELN FBN1 MMP2 TGFBR1
7 loeys-dietz syndrome 26.2 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
8 aneurysm 25.5 ACTA2 COL3A1 ELN FBN1 MYH11 MYLK
9 aortic aneurysm 23.8 ACTA2 COL3A1 EFEMP2 ELN FBN1 HIF1A-AS1
10 aortic aneurysm, familial thoracic 7 12.6
11 aortic aneurysm, familial thoracic 8 12.6
12 aortic aneurysm, familial thoracic 9 12.6
13 aortic aneurysm, familial thoracic 11 12.6
14 aortic aneurysm, familial thoracic 10 12.6
15 cystic medial necrosis of aorta 12.4
16 loeys-dietz syndrome 2 11.5
17 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.8 ELN FBN1
18 late-onset focal dermal elastosis 10.8 ELN FBN1
19 transient hypogammaglobulinemia of infancy 10.6 TGFBR1 TGFBR2
20 mid-dermal elastolysis 10.5 ELN FBN1
21 transient hypogammaglobulinemia 10.5 TGFBR1 TGFBR2
22 supravalvular aortic stenosis 10.5 ELN FBN1 MMP2
23 exfoliation syndrome 10.4 ELN FBN1 MMP1
24 lymphangioleiomyomatosis 10.3 ELN MMP1 MMP2
25 tendinosis 10.3 MMP1 TGFB2 TGFBR2
26 subclavian artery aneurysm 10.2 MYH11 TGFBR2
27 mitral valve disease 10.2 FBN1 MMP1 TGFB2
28 ehlers-danlos syndrome, vascular type 10.2 COL3A1 ELN
29 fibromatosis, gingival, 1 10.2 MMP1 MMP2
30 ehlers-danlos syndrome, hypermobility type 10.2 COL3A1 FBN1
31 dextrocardia 10.1
32 tricuspid valve prolapse 10.1 FBN1 SMAD3
33 extracranial arteriovenous malformation 10.1 MMP2 MMP9
34 focal myositis 10.0 MMP2 MMP9
35 collagen disease 10.0 COL3A1 ELN FBN1
36 lentigo maligna melanoma 10.0 MMP2 MMP9
37 dental pulp calcification 10.0 FBN1 TGFBR2
38 pectus excavatum 10.0
39 shprintzen-goldberg craniosynostosis syndrome 10.0
40 galactosialidosis 10.0
41 cardiac tamponade 10.0
42 ventricular septal defect 10.0
43 coronary aneurysm 10.0
44 aortitis 10.0
45 villous adenocarcinoma 9.9 MMP2 MMP9
46 open-angle glaucoma 9.9 ELN MMP1 TGFB2
47 psammomatous meningioma 9.9 MMP2 MMP9
48 acute transverse myelitis 9.9 MMP2 MMP9
49 senile ectropion 9.8 ELN MMP2 MMP9
50 char syndrome 9.8 ACTA2 COL3A1 FBN1 TGFBR2

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



Diseases related to Aortic Aneurysm, Familial Thoracic 1
Sources

Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 1

About this section

Clinical features from OMIM:

607086

Human phenotypes related to Aortic Aneurysm, Familial Thoracic 1:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cutis marmorata 59 32 occasional (7.5%) Occasional (29-5%) HP:0000965
2 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
3 cardiomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001640
4 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
5 aortic regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0001659
6 exertional dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002875
7 ascending aortic dissection 59 32 frequent (33%) Frequent (79-30%) HP:0004933
8 left ventricular failure 59 32 frequent (33%) Frequent (79-30%) HP:0005162
9 descending aortic dissection 59 32 frequent (33%) Frequent (79-30%) HP:0012499
10 paroxysmal dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0012763
11 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
12 cystic medial necrosis of the aorta 59 32 hallmark (90%) Very frequent (99-80%) HP:0200146
13 coronary artery disease 59 Frequent (79-30%)
14 dilatation of ascending aorta 59 Frequent (79-30%)
15 aortic dissection 59 Occasional (29-5%)
16 cerebral aneurysm 59 Occasional (29-5%)
17 descending aortic aneurysm 59 Frequent (79-30%)
18 occlusive vascular disease 59 Occasional (29-5%)
19 peripheral vascular insufficiency 59 Occasional (29-5%)
20 occlusive arterial disease 59 Occasional (29-5%)
21 carotid artery aneurysm 59 Occasional (29-5%)
22 coronary artery atherosclerosis 32 frequent (33%) HP:0001677
23 aortic root aneurysm 32 frequent (33%) HP:0002616
24 dilatation of the cerebral artery 32 occasional (7.5%) HP:0004944
25 peripheral arterial stenosis 32 occasional (7.5%) HP:0004950
26 descending thoracic aorta aneurysm 32 frequent (33%) HP:0004959
27 carotid artery dilatation 32 occasional (7.5%) HP:0012163

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

46
# 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 MMP2 MMP9 MYH11 MYLK TGFB2 TGFBR1
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 TGFBR2 COL3A1 EFEMP2 FBN1 MMP2 MMP9
8 skeleton MP:0005390 9.28 EFEMP2 FBN1 MMP2 TGFBR2 MMP9 MYLK
Sources

Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 1

About this section

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

(show top 50) (show all 61)
# 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
Morphine Approved, Investigational Phase 4 57-27-2 5288826
4
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
5 Anticonvulsants Phase 4
6 Carbonic Anhydrase Inhibitors Phase 4
7 diuretics Phase 4
8 Natriuretic Agents Phase 4,Phase 3
9 cadexomer iodine Phase 4
10 Analgesics Phase 4
11 Analgesics, Opioid Phase 4
12 Central Nervous System Depressants Phase 4,Not Applicable
13 Narcotics Phase 4
14 Peripheral Nervous System Agents Phase 4
15 Neurotransmitter Agents Phase 4,Phase 2
16 Adrenergic Agents Phase 4
17 Adrenergic Agonists Phase 4
18 Adrenergic alpha-2 Receptor Agonists Phase 4
19 Adrenergic alpha-Agonists Phase 4
20 Analgesics, Non-Narcotic Phase 4
21 Anesthetics Phase 4,Not Applicable
22 Hypnotics and Sedatives Phase 4,Not Applicable
23 Natriuretic Peptide, Brain Phase 3
24
Protein C Approved Phase 1, Phase 2
25
Nicotine Approved Phase 2,Not Applicable 54-11-5 942 89594
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 Alpha 1-Antitrypsin Phase 1, Phase 2
29 HIV Protease Inhibitors Phase 1, Phase 2
30
protease inhibitors Phase 1, Phase 2
31 Protein C Inhibitor Phase 1, Phase 2
32 Serine Proteinase Inhibitors Phase 1, Phase 2
33 Trypsin 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 23994
37 Hypoglycemic Agents Phase 1
38 insulin Phase 1
39 Insulin, Globin Zinc Phase 1
40
Warfarin Approved 81-81-2 6691 54678486
41
Simvastatin Approved 79902-63-9 54454
42
Angiotensin II Approved, Investigational Not Applicable 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
43
Losartan Approved Not Applicable 114798-26-4 3961
44
Isoflurane Approved, Vet_approved Not Applicable 26675-46-7 3763
45
Propofol Approved, Investigational, Vet_approved Not Applicable 2078-54-8 4943
46 Anticholesteremic Agents
47 Antimetabolites
48 Atorvastatin Calcium 134523-03-8
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors
50 Hypolipidemic Agents

Interventional clinical trials:

(show top 50) (show all 69)
# 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 Effects of a Surgery-induced Peripheral Inflammatory Response on the Blood Brain Barrier Completed NCT00878371 Phase 4 morphine
6 Bloodtranfusions After Aortic Surgery Recruiting NCT02299947 Phase 4 Haemocomplettan P;Placebo
7 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
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 Not yet recruiting NCT03410420 Phase 1 Pimonidazole hydrochloride
19 Clinical Study of Thoracic Aortic Aneurysm Exclusion Unknown status NCT00549315 Not Applicable
20 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
21 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft Approved for marketing NCT01327742
22 Zenith® TX2® Low Profile TAA Endovascular Graft Approved for marketing NCT02471781
23 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm Completed NCT02256163
24 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
25 STARZ-TX2 Clinical Study: Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176 Not Applicable
26 Valor II: The Valiant Thoracic Stent Graft System Clinical Study Completed NCT00413231 Not Applicable
27 Phase II Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft Completed NCT00435942 Not Applicable
28 Evaluation of the GORE TAG Thoracic Endoprosthesis in the Treatment of Aneurysms Completed NCT00590759 Not Applicable
29 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
30 Post Market Surveillance Study Evaluating BioFoam Surgical Matrix in Cardiovascular Surgery Completed NCT02164201
31 Study to Determine if the Valiant Stent Graft is Safe and Effective in Treating Patients Who Have a Blunt Thoracic Aortic Injury Completed NCT01092767 Not Applicable
32 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
33 Registry Of Acute meDical Emergencies in Brazil Recruiting NCT02753023
34 Obstructive Sleep Apnoea in Adolescents With Thoracic Aortic Aneurysm Recruiting NCT03400319
35 Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection Recruiting NCT02852603
36 Effective Treatments for Thoracic Aortic Aneurysms (ETTAA Study): A Prospective Cohort Study Recruiting NCT02010892
37 Biomechanical and Microstructural Properties of Ascending Aortic Aneurysms Recruiting NCT03142074
38 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm Recruiting NCT01599533 Not Applicable
39 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Recruiting NCT02204774
40 A Registry Study on Genetics and Biomarkers of Thoracic Aortic Aneurysm/Dissection Recruiting NCT03010514
41 Treatment in Thoracic Aortic Aneurysm: Surgery vs Surveillance Recruiting NCT03536312 Not Applicable
42 RelayPro Thoracic Stent-Graft in Subjects With Thoracic Aortic Aneurysms and Penetrating Atherosclerotic Ulcers Recruiting NCT02818972 Not Applicable
43 The CardiOvascular Remodeling Following Endovascular Aortic Repair (CORE) Study Recruiting NCT02735720
44 Evaluation of Valiant Mona LSA Recruiting NCT02365467 Not Applicable
45 NEXUS™ Aortic Arch Stent Graft System First In Man Study Recruiting NCT02365454 Not Applicable
46 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
47 Turner Syndrome Research Network Registry Recruiting NCT03185702
48 Genetic Risks for Bicuspid Aortic Valve Disease Recruiting NCT01823432
49 International Bicuspid Aortic Valve Consortium (BAVCon) Recruiting NCT01980797
50 Early Feasibility Study of the RelayBranch Thoracic Stent-Graft System Recruiting NCT03214601 Not Applicable

Search NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 1

Cochrane evidence based reviews: aortic aneurysm, thoracic

Sources

Genetic Tests for Aortic Aneurysm, Familial Thoracic 1

About this section
Sources

Anatomical Context for Aortic Aneurysm, Familial Thoracic 1

About this section

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

19
The Thoracic Aorta

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

41
Smooth Muscle, Lung, Brain, Spinal Cord, Testes, Heart, Kidney
Sources

Publications for Aortic Aneurysm, Familial Thoracic 1

About this section

Articles related to Aortic Aneurysm, Familial Thoracic 1:

(show top 50) (show all 686)
# Title Authors Year
1
Thoracic aortic aneurysm is an independent factor associated with diffuse idiopathic skeletal hyperostosis. ( 29701101 )
2018
2
Case Image: Treatment of aortic coarctation, saccular thoracic aortic aneurysm, and corresponding feeding collateral vessel with a fully percutaneous endovascular approach. ( 29664433 )
2018
3
Thiol/disulphide homeostasis in thoracic aortic aneurysm and acute aortic syndrome. ( 29436236 )
2018
4
An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm. ( 29520069 )
2018
5
Definitive Endovascular Repair of a Brucellar Descending Thoracic Aortic Aneurysm. ( 28513124 )
2017
6
Functional characteristics of a novel SMAD4 mutation from thoracic aortic aneurysms (TAA). ( 28716708 )
2017
7
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. ( 27632686 )
2017
8
A Functional Variant of SMAD4 Enhances Thoracic Aortic Aneurysm and Dissection Risk through Promoting Smooth Muscle Cell Apoptosis and Proteoglycan Degradation. ( 28666732 )
2017
9
Long Non-coding RNA-mRNA Correlation Analysis Reveals the Potential Role of HOTAIR in Pathogenesis of Sporadic Thoracic Aortic Aneurysm. ( 28757056 )
2017
10
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort:<i>SMAD6</i>as an Important Contributor. ( 28659821 )
2017
11
[Concomitant Operations for Thoracic Aortic Aneurysm and Myasthenia Gravis;Report of a Case]. ( 28790248 )
2017
12
Giant Thoracic Aortic Aneurysm Manifested as Dysphagia and Dyspnea. ( 28007285 )
2017
13
Pseudoachalasia Secondary to Thoracic Aortic Aneurysm. ( 28528055 )
2017
14
Differentially expressed genes and canonical pathways in the ascending thoracic aortic aneurysm - The Tampere Vascular Study. ( 28935963 )
2017
15
Nicotinamide Phosphoribosyltransferase in Smooth Muscle Cells Maintains Genome Integrity, Resists Aortic Medial Degeneration, and Is Suppressed in Human Thoracic Aortic Aneurysm Disease. ( 28356339 )
2017
16
Hypothesis-free secretome analysis of thoracic aortic aneurysm reinforces the central role of TGF-I^ cascade in patients with bicuspid aortic valve. ( 27298013 )
2016
17
Surgical and Antimicrobial Management of a Thoracic Aortic Aneurysm Due to Q Fever: A Case Report and Brief Review. ( 27075992 )
2016
18
Type II endoleak after endoluminal repair of thoracic aortic aneurysm associated with native coarctation. ( 27815410 )
2016
19
Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing. ( 26854089 )
2016
20
Management of a Thoracic Aortic Aneurysm during Pregnancy Leading to the Diagnosis of Takayasu Arteritis. ( 27395815 )
2016
21
IMAGES IN CLINICAL MEDICINE. Vertebral-Body Erosion in Thoracic Aortic Aneurysm. ( 26962928 )
2016
22
Ascending thoracic aortic aneurysm: Usefulness of the speckle-tracking transesophageal echocardiogram. ( 28065433 )
2016
23
Predicting Mid-term All-cause Mortality in Patients Undergoing Elective Endovascular Repair of a Descending Thoracic Aortic Aneurysm. ( 26813915 )
2016
24
Secondary aorto-esophageal fistula after thoracic aortic aneurysm endovascular repair treated by covered esophageal stenting. ( 27574612 )
2016
25
Emergency Endovascular interventions for ruptured descending Thoracic Aortic Aneurysm. ( 27671448 )
2016
26
Thoracic aortic aneurysm. ( 27563557 )
2016
27
Endovascular Repair of a Descending Thoracic Aortic Aneurysm With an Aberrant Left Subclavian Artery Associated With an Infrarenal Aortic Aneurysm. ( 27211955 )
2016
28
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. ( 26621581 )
2016
29
Genetics of thoracic aortic aneurysm and dissection. ( 27772988 )
2016
30
Fluoroscopic-Guided Lumbar Spinal Drain Insertion for Thoracic Aortic Aneurysm Surgery. ( 28002169 )
2016
31
Nonsyndromic Thoracic Aortic Aneurysm and Dissection: Outcomes With Marfan Syndrome Versus Bicuspid Aortic ValveA Aneurysm. ( 26868685 )
2016
32
Thoracic aortic aneurysm: A rare cause of elevated hemidiaphragm. ( 27578939 )
2016
33
Massive Hemoptysis From an Aortobronchial Fistula Secondary to BCG-Related Mycotic Thoracic Aortic Aneurysm. ( 26694276 )
2016
34
Bronchiectasis due to Ectopic Right Pulmonary Artery and Compression of Superior Vena Cava between Ascending Thoracic Aortic Aneurysm and Enlarged Right Pulmonary Artery. ( 27595472 )
2016
35
Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. ( 27432961 )
2016
36
Diagnosis of a pericardial effusion with a thoracic aortic aneurysm by point-of-care ultrasound. ( 26856377 )
2016
37
The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections. ( 26662674 )
2016
38
Sustained activation of ADP/P2ry12 signaling induces SMC senescence contributing to thoracic aortic aneurysm/dissection. ( 27534720 )
2016
39
Dissecting thoracic aortic aneurysm associated with tuberculous pleural effusion. ( 27499987 )
2016
40
Open Versus Endovascular or Hybrid Thoracic Aortic Aneurysm Repair. ( 27663901 )
2016
41
Aortic rupture after thoracic endovascular repair in a patient with familial thoracic aortic aneurysm and dissections type 6 (FTAAD6). ( 27094429 )
2016
42
Endovascular Treatment of a Saccular Thoracic Aortic Aneurysm with Contained Rupture Inside a Para-aortic Mass. ( 27346446 )
2016
43
Vascular airway compression management in a case of aortic arch and descending thoracic aortic aneurysm. ( 27397474 )
2016
44
Thoracic aortic aneurysm: a late complication of coarctation repair. ( 27123309 )
2016
45
Infective thoracic aortic aneurysm caused by Clostridium difficile after endovascular aortic repair. ( 27578027 )
2016
46
Percutaneous In situ Left Subclavian Artery Fenestration Using Reentry Catheter during Endovascular Thoracic Aortic Aneurysm Repair. ( 28031661 )
2016
47
Simultaneous endovascular repairs of concomitant ruptured abdominal aortic aneurysm and huge silent thoracic aortic aneurysm. ( 27751332 )
2016
48
Early Experiences with the Endovascular Repair of Ruptured Descending Thoracic Aortic Aneurysm. ( 27064672 )
2016
49
Thoracic aortic aneurysms in BehAset's disease. ( 27179105 )
2016
50
Characteristics of thoracic aortic aneurysm rupture in vitro. ( 27395826 )
2016
Sources

Variations for Aortic Aneurysm, Familial Thoracic 1

About this section

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh37 Chromosome 3, 30733044: 30733044
2 TGFBR2 NM_001024847.2(TGFBR2): c.1732T> A (p.Ser578Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112215250 GRCh38 Chromosome 3, 30691552: 30691552

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
Sources

Expression for Aortic Aneurysm, Familial Thoracic 1

About this section
Search GEO for disease gene expression data for Aortic Aneurysm, Familial Thoracic 1.
Sources

Pathways for Aortic Aneurysm, Familial Thoracic 1

About this section

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

(show top 50) (show all 52)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.82 ACTA2 COL3A1 EFEMP2 ELN FBN1 MYH11
2
PAK Pathway 64
Show member pathways
 13.25 ACTA2 MYH11 MYLK SLC2A10 SMAD3 TGFB2
3
Phospholipase-C Pathway 64
Show member pathways
 13.01 ACTA2 COL3A1 EFEMP2 ELN FBN1 TGFB2
4
Circadian entrainment 37
Show member pathways
 12.93 ACTA2 COL3A1 MMP1 MMP2 MMP9 SMAD3
5
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.89 ACTA2 MYH11 TGFB2 TGFBR1 TGFBR2
6
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.84 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
7
Endometrial cancer 37
Show member pathways
 12.84 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
8
Pathways in cancer 37
12.74 MMP1 MMP2 MMP9 SMAD3 TGFB2 TGFBR1
9
Integrin Pathway 64
Show member pathways
 12.57 ACTA2 COL3A1 EFEMP2 ELN FBN1 MMP1
10
Degradation of the extracellular matrix 66
Show member pathways
 12.51 COL3A1 EFEMP2 ELN FBN1 MMP1 MMP2
11
Development EGFR signaling pathway 22
Show member pathways
 12.47 MMP2 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
12
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.45 SMAD3 TGFB2 TGFBR1 TGFBR2
13
Th17 cell differentiation 37
Show member pathways
 12.42 SMAD3 TGFB2 TGFBR1 TGFBR2
14
HTLV-I infection 37
12.4 SMAD3 TGFB2 TGFBR1 TGFBR2
15
Th1 Differentiation Pathway 65
Show member pathways
 12.24 SMAD3 TGFB2 TGFBR1 TGFBR2
16
Cell cycle Role of SCF complex in cell cycle regulation 22
Show member pathways
 12.21 SMAD3 TGFB2 TGFBR1 TGFBR2
17
Cellular senescence (KEGG) 37
12.15 SMAD3 TGFB2 TGFBR1 TGFBR2
18
Hippo signaling pathway 37
12.13 SMAD3 TGFB2 TGFBR1 TGFBR2
19
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12.1 MMP2 SMAD3 TGFBR1 TGFBR2
20
FoxO signaling pathway 37
Show member pathways
 12.06 SMAD3 TGFB2 TGFBR1 TGFBR2
21
Apelin signaling pathway 37
12.05 ACTA2 MYLK SMAD3 TGFBR1
22
TGF-beta Signaling Pathway (WikiPathways) 1
12.03 MMP1 SMAD3 TGFBR1 TGFBR2
23
Matrix Metalloproteinases 1
Show member pathways
 11.88 MMP1 MMP2 MMP9
24
SMAD Signaling Network 64
11.88 ACTA2 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
25
TGF-beta Signaling Pathways 65
11.85 SMAD3 TGFB2 TGFBR1 TGFBR2
26
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.84 SMAD3 TGFBR1 TGFBR2
27
Angiogenesis (CST) 4
11.81 MMP2 MMP9 TGFB2 TGFBR1
28
TGF-beta signaling pathway (KEGG) 37
11.76 SMAD3 TGFB2 TGFBR1 TGFBR2
29
Loss of Function of SMAD2/3 in Cancer 66
Show member pathways
 11.75 SMAD3 TGFBR1 TGFBR2
30
Bladder cancer 37 1
11.73 MMP1 MMP2 MMP9
31
Adherens junction 37
11.72 SMAD3 TGFBR1 TGFBR2
32
Development_TGF-beta receptor signaling 22
11.72 SMAD3 TGFBR1 TGFBR2
33
Colorectal Cancer Metastasis 64
11.72 MMP1 MMP2 MMP9 SMAD3 TGFB2 TGFBR1
34
TGF-beta receptor signaling activates SMADs 66
Show member pathways
 11.7 SMAD3 TGFBR1 TGFBR2
35
Elastic fibre formation 66
Show member pathways
 11.69 EFEMP2 ELN FBN1 TGFB2
36
AGE/RAGE pathway 1
11.67 MMP2 MMP9 SMAD3
37
Lung fibrosis 1
11.65 ELN MMP2 MMP9
38
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.64 MMP1 MMP2 MMP9
39
AGE-RAGE signaling pathway in diabetic complications 37
11.63 COL3A1 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
40
TGF-beta Receptor Signaling (WikiPathways) 1
11.6 SMAD3 TGFBR1 TGFBR2
41
Cell adhesion_ECM remodeling 22
11.58 COL3A1 MMP1 MMP2 MMP9
42
Hepatitis C and Hepatocellular Carcinoma 1
11.54 MMP1 SMAD3 TGFBR1
43
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.53 SMAD3 TGFBR1 TGFBR2
44
Cell adhesion_Plasmin signaling 22
11.51 TGFB2 TGFBR1 TGFBR2
45
Cell adhesion_Cell-matrix glycoconjugates 22
11.4 ELN MMP1 MMP9
46
IL-2 Gene Expression in Activated and Quiescent T-Cells 64
Show member pathways
 11.4 SMAD3 TGFB2 TGFBR1 TGFBR2
47
Smooth Muscle Contraction 66
11.33 ACTA2 MYH11 MYLK
48
Validated transcriptional targets of AP1 family members Fra1 and Fra2 1
11.3 MMP1 MMP2 MMP9
49
Extracellular vesicle-mediated signaling in recipient cells 1
11.21 SMAD3 TGFB2 TGFBR1 TGFBR2
50
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
11.07 FBN1 SMAD3 TGFBR1 TGFBR2
Sources

GO Terms for Aortic Aneurysm, Familial Thoracic 1

About this section

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 9.17 COL3A1 ELN FBN1 MMP1 MMP2 MMP9
2 transforming growth factor beta receptor complex GO:0070022 8.96 TGFBR1 TGFBR2

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.89 MMP9 MYLK SMAD3 TGFBR1
2 extracellular matrix organization GO:0030198 9.88 COL3A1 ELN FBN1 MMP9
3 response to hypoxia GO:0001666 9.87 MMP2 SMAD3 TGFB2 TGFBR2
4 heart development GO:0007507 9.85 COL3A1 FBN1 TGFB2 TGFBR1 TGFBR2
5 muscle contraction GO:0006936 9.83 ACTA2 MYH11 MYLK
6 kidney development GO:0001822 9.83 FBN1 TGFB2 TGFBR1
7 roof of mouth development GO:0060021 9.8 TGFB2 TGFBR1 TGFBR2
8 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.78 SMAD3 TGFBR1 TGFBR2
9 cellular response to transforming growth factor beta stimulus GO:0071560 9.75 FBN1 SMAD3 TGFBR1
10 collagen catabolic process GO:0030574 9.73 COL3A1 MMP1 MMP2 MMP9
11 collagen fibril organization GO:0030199 9.72 COL3A1 TGFB2 TGFBR1
12 transforming growth factor beta receptor signaling pathway GO:0007179 9.72 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
13 embryo implantation GO:0007566 9.71 MMP2 MMP9 TGFBR2
14 ventricular septum morphogenesis GO:0060412 9.69 TGFB2 TGFBR1 TGFBR2
15 embryonic cranial skeleton morphogenesis GO:0048701 9.67 SMAD3 TGFBR1 TGFBR2
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.67 SMAD3 TGFB2 TGFBR1 TGFBR2
17 ventricular trabecula myocardium morphogenesis GO:0003222 9.65 TGFB2 TGFBR1
18 wound healing GO:0042060 9.65 COL3A1 SMAD3 TGFB2 TGFBR1 TGFBR2
19 activin receptor signaling pathway GO:0032924 9.64 SMAD3 TGFBR1
20 cardiac epithelial to mesenchymal transition GO:0060317 9.64 TGFB2 TGFBR1
21 secondary palate development GO:0062009 9.63 TGFB2 TGFBR2
22 atrioventricular valve morphogenesis GO:0003181 9.63 TGFB2 TGFBR2
23 membranous septum morphogenesis GO:0003149 9.62 TGFB2 TGFBR2
24 response to cholesterol GO:0070723 9.61 TGFBR1 TGFBR2
25 elastic fiber assembly GO:0048251 9.6 EFEMP2 MYH11
26 pathway-restricted SMAD protein phosphorylation GO:0060389 9.58 TGFB2 TGFBR1 TGFBR2
27 aorta smooth muscle tissue morphogenesis GO:0060414 9.56 COL3A1 MYLK
28 regulation of transforming growth factor beta2 production GO:0032909 9.52 SMAD3 TGFB2
29 endocardial cushion fusion GO:0003274 9.48 TGFB2 TGFBR2
30 extracellular matrix disassembly GO:0022617 9.35 ELN FBN1 MMP1 MMP2 MMP9
31 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.33 TGFB2 TGFBR1 TGFBR2
32 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 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.37 TGFBR1 TGFBR2
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 TGFBR1 TGFBR2
4 type II transforming growth factor beta receptor binding GO:0005114 9.26 TGFB2 TGFBR1
5 extracellular matrix structural constituent GO:0005201 9.26 COL3A1 EFEMP2 ELN FBN1
6 transforming growth factor beta-activated receptor activity GO:0005024 9.16 TGFBR1 TGFBR2
7 SMAD binding GO:0046332 8.92 COL3A1 SMAD3 TGFBR1 TGFBR2
Sources

Sources for Aortic Aneurysm, Familial Thoracic 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....