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AAT1
MCID: ART067
MIFTS: 67

Aortic Aneurysm, Familial Thoracic 1 (AAT1)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Aortic Aneurysm, Familial Thoracic 1

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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
Orphanet 59 ORPHA229
ICD10 via Orphanet 34 I71.0
UMLS via Orphanet 74 C0392775
MedGen 42 C0345050
ICD10 33 I71.2
UMLS 73 C0162872
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Summaries for Aortic Aneurysm, Familial Thoracic 1

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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 6 and aortic aneurysm, familial thoracic 2. An important gene associated with Aortic Aneurysm, Familial Thoracic 1 is SLC12A5-AS1 (SLC12A5 And MMP9 Antisense RNA 1), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Protein C and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, heart and spinal cord, and related phenotypes are cardiomegaly and patent ductus arteriosus

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

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

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

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Related Diseases for Aortic Aneurysm, Familial Thoracic 1

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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 149)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 34.0 ACTA2 MYH11 MYLK
2 aortic aneurysm, familial thoracic 2 33.7 AAT2 ACTA2 FBN1 SLC2A10
3 familial thoracic aortic aneurysm and dissection 32.1 COL3A1 FBN1 SMAD3 TGFBR1 TGFBR2
4 loeys-dietz syndrome 1 31.7 COL3A1 FBN1 MYH11 SMAD3 TGFB2 TGFBR1
5 marfan syndrome 30.3 ACTA2 COL3A1 ELN FBN1 MMP2 TGFBR1
6 aortic valve disease 1 30.1 ACTA2 ELN FBN1 TGFBR2
7 aortic aneurysm, familial abdominal, 1 29.9 ELN FBN1 MMP1 MMP2 MMP9
8 mitral valve disease 29.7 FBN1 MMP1 TGFB2
9 aortic aneurysm 29.7 AAT1 ACTA2 COL3A1 EFEMP2 ELN FBN1
10 pneumothorax 29.5 ELN FBN1 MMP1 MMP2 MMP9
11 loeys-dietz syndrome 28.9 ACTA2 COL3A1 FBN1 MYH11 MYLK SMAD3
12 aortic aneurysm, familial thoracic 4 12.8
13 aortic aneurysm, familial thoracic 8 12.7
14 aortic aneurysm, familial thoracic 9 12.7
15 aortic aneurysm, familial thoracic 11 12.7
16 aortic aneurysm, familial thoracic 10 12.7
17 loeys-dietz syndrome 2 11.6
18 multisystemic smooth muscle dysfunction syndrome 11.6
19 aortic aneurysm, familial thoracic 7 11.4
20 meester-loeys syndrome 11.3
21 cystic medial necrosis of aorta 11.3
22 ischemia 10.4
23 dysphagia 10.4
24 paraplegia 10.4
25 pectus excavatum 10.3
26 mitral valve insufficiency 10.2
27 dextrocardia 10.2
28 aortic coarctation 10.2
29 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.2 ELN FBN1
30 late-onset focal dermal elastosis 10.2 ELN FBN1
31 wiskott-aldrich syndrome 10.2
32 tricuspid valve prolapse 10.2 FBN1 SMAD3
33 ehlers-danlos syndrome, vascular type 10.2 COL3A1 ELN
34 temporal arteritis 10.2
35 patent ductus arteriosus 1 10.2
36 aberrant subclavian artery 10.2
37 mid-dermal elastolysis 10.1 ELN FBN1
38 cerebral aneurysms 10.1 ELN MMP2
39 autosomal recessive cutis laxa type iii 10.1 ELN FBN1
40 sorsby fundus dystrophy 10.1 ELN FBN1 MMP2
41 extracranial arteriovenous malformation 10.1 MMP2 MMP9
42 arteries, anomalies of 10.1
43 lung cancer 10.1
44 syphilis 10.1
45 cutis laxa, autosomal recessive, type ib 10.1 EFEMP2 ELN
46 focal myositis 10.1 MMP2 MMP9
47 shprintzen-goldberg craniosynostosis syndrome 10.1
48 takayasu arteritis 10.1
49 galactosialidosis 10.1
50 cardiac tamponade 10.1

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



Diseases related to Aortic Aneurysm, Familial Thoracic 1
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Symptoms & Phenotypes for Aortic Aneurysm, Familial Thoracic 1

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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 cardiomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001640
2 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
3 ascending aortic dissection 59 32 frequent (33%) Frequent (79-30%) HP:0004933
4 descending aortic dissection 59 32 frequent (33%) Frequent (79-30%) HP:0012499
5 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
6 stroke 59 32 occasional (7.5%) Occasional (29-5%) HP:0001297
7 cutis marmorata 59 32 occasional (7.5%) Occasional (29-5%) HP:0000965
8 aortic regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0001659
9 exertional dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002875
10 left ventricular failure 59 32 frequent (33%) Frequent (79-30%) HP:0005162
11 paroxysmal dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0012763
12 cystic medial necrosis of the aorta 59 32 hallmark (90%) Very frequent (99-80%) HP:0200146
13 aortic dissection 59 Occasional (29-5%)
14 cerebral aneurysm 59 Occasional (29-5%)
15 coronary artery disease 59 Frequent (79-30%)
16 dilatation of ascending aorta 59 Frequent (79-30%)
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 peripheral arterial stenosis 32 occasional (7.5%) HP:0004950
23 aortic root aneurysm 32 frequent (33%) HP:0002616
24 dilatation of the cerebral artery 32 occasional (7.5%) HP:0004944
25 coronary artery atherosclerosis 32 frequent (33%) HP:0001677
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 ACTA2 COL3A1 EFEMP2 FBN1 MMP2 MMP9
4 digestive/alimentary MP:0005381 10.01 COL3A1 MMP9 MYH11 MYLK SMAD3 TGFB2
5 neoplasm MP:0002006 9.73 MMP1 MMP2 MMP9 SMAD3 TGFBR1 TGFBR2
6 renal/urinary system MP:0005367 9.7 FBN1 MMP9 MYH11 MYLK SLC2A10 SMAD3
7 respiratory system MP:0005388 9.65 COL3A1 EFEMP2 FBN1 MMP2 MMP9 MYH11
8 skeleton MP:0005390 9.28 EFEMP2 FBN1 MMP2 MMP9 MYLK SMAD3
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Drugs & Therapeutics for Aortic Aneurysm, Familial Thoracic 1

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Protein C Approved Phase 1, Phase 2
2
Nicotine Approved Phase 2 54-11-5 942 89594
3
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951
4 Protein C Inhibitor Phase 1, Phase 2
5 Alpha 1-Antitrypsin Phase 1, Phase 2
6 Trypsin Inhibitors Phase 1, Phase 2
7 Serine Proteinase Inhibitors Phase 1, Phase 2
8
protease inhibitors Phase 1, Phase 2
9 HIV Protease Inhibitors Phase 1, Phase 2
10
Warfarin Approved 81-81-2 6691 54678486

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Tobacco Approach Avoidance Training for Adolescent Smokers-1 Completed NCT01625767 Phase 2
3 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
4 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm Completed NCT02256163
5 Registry Of Acute meDical Emergencies in Brazil Recruiting NCT02753023
6 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165

Search NIH Clinical Center for Aortic Aneurysm, Familial Thoracic 1

Cochrane evidence based reviews: aortic aneurysm, thoracic

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Genetic Tests for Aortic Aneurysm, Familial Thoracic 1

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Anatomical Context for Aortic Aneurysm, Familial Thoracic 1

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

41
Smooth Muscle, Heart, Spinal Cord, Lung, Endothelial, Kidney, Thymus

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

19
The Thoracic Aorta
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Publications for Aortic Aneurysm, Familial Thoracic 1

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Articles related to Aortic Aneurysm, Familial Thoracic 1:

(show top 50) (show all 778)
# 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
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm. ( 30455415 )
2018
6
Descending thoracic aortic aneurysm revealing metastasis of a soft tissue fibrosarcoma: a case report and review of the literature. ( 30473763 )
2018
7
Re. "Open vs Endovascular repair of descending thoracic aortic aneurysm disease: a systematic review and meta-analysis". ( 30476602 )
2018
8
Appearance of Adipocytes in Thoracic Aortic Aneurysm. ( 30504624 )
2018
9
A case of Brucella aortitis associated with development of thoracic aortic aneurysm and aortobronchial fistula. ( 30513449 )
2018
10
A functional variant of SMAD4 enhances macrophage recruitment and inflammatory response via TGF-β signal activation in Thoracic aortic aneurysm and dissection. ( 30530919 )
2018
11
A fatal case of Ortner's syndrome and dysphagia aortica secondary to rapidly expanding mycotic thoracic aortic aneurysm in a chronic kidney disease patient. ( 30214810 )
2018
12
Increasing Incidence of Thoracic Aortic Aneurysm Repair in Germany in the Endovascular Era: Secondary Data Analysis of the Nationwide German DRG Microdata. ( 30220527 )
2018
13
A case report of successful endovascular repair of a giant 15 cm diameter asymptomatic thoracic aortic aneurysm. ( 30248627 )
2018
14
Local variations in material and structural properties characterize murine thoracic aortic aneurysm mechanics. ( 30251206 )
2018
15
Current challenges in open versus endovascular repair of ruptured thoracic aortic aneurysm. ( 30253895 )
2018
16
Rapamycin prevents thoracic aortic aneurysm and dissection in mice. ( 30253896 )
2018
17
Epigenetic influences on genetically triggered thoracic aortic aneurysm. ( 30267337 )
2018
18
A giant thoracic aortic aneurysm causing multiple fistulas and mediastinitis. ( 30336274 )
2018
19
Evaluation of Peak Wall Stress in an Ascending Thoracic Aortic Aneurysm Using FSI Simulations: Effects of Aortic Stiffness and Peripheral Resistance. ( 30341731 )
2018
20
Three-Dimensional Growth Analysis of Thoracic Aortic Aneurysm With Vascular Deformation Mapping. ( 30354496 )
2018
21
Role of Thrombospondin-1 in Mechanotransduction and Development of Thoracic Aortic Aneurysm in Mouse and Humans. ( 30355232 )
2018
22
Pulmonary Artery Compression and Invasion by a Ruptured Giant Thoracic Aortic Aneurysm: A Rare Presentation. ( 30370383 )
2018
23
Thoracic aortic aneurysm. ( 30370834 )
2018
24
Serum matrix metalloproteinase-9 is a valuable biomarker for identification of abdominal and thoracic aortic aneurysm: a case-control study. ( 30373522 )
2018
25
The pathogenesis of thoracic aortic aneurysm from hereditary perspective. ( 30030203 )
2018
26
Precise Therapy for Thoracic Aortic Aneurysm in Marfan Syndrome: A Puzzle Nearing Its Solution. ( 30041021 )
2018
27
Comparison of hemodynamic and structural indices of ascending thoracic aortic aneurysm as predicted by 2-way FSI, CFD rigid wall simulation and patient-specific displacement-based FEA. ( 30053678 )
2018
28
Reflection of pioneers: redo thoracoabdominal aortic aneurysm repair controversies in thoracic aortic aneurysm surgery. ( 30069676 )
2018
29
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. ( 30071989 )
2018
30
Epigenetics in Ascending Thoracic Aortic Aneurysm and Dissection. ( 30079931 )
2018
31
Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications. ( 30079932 )
2018
32
Open versus Endovascular Repair of Descending Thoracic Aortic Aneurysm Disease: A Systematic Review and Meta-analysis. ( 30081163 )
2018
33
Effect of inflammation on the biomechanical strength of involved aorta in type A aortic dissection and ascending thoracic aortic aneurysm: An initial research. ( 30088482 )
2018
34
Corrigendum to: 'Analysis of aortic area/height ratio in patients with thoracic aortic aneurysm and Type A dissection' [Eur J Cardiothorac Surg 2018; doi:10.1093/ejcts/ezy110]. ( 30101291 )
2018
35
Hybrid Repair for Ruptured Thoracic Aortic Aneurysm: Frozen Elephant Trunk Technique with Thoracic Endovascular Aortic Repair. ( 30116418 )
2018
36
Diabetes, Incretin therapy and thoracic aortic aneurysm-what does the evidence show? ( 30156160 )
2018
37
Notch, BMP and WNT/β-catenin network is impaired in endothelial cells of the patients with thoracic aortic aneurysm. ( 30172576 )
2018
38
Eosinophilic aortitis with thoracic aortic aneurysm and rupture in a captive-born owl monkey. ( 30187922 )
2018
39
Postnatal deficiency of ADAMTS1 ameliorates thoracic aortic aneurysm and dissection in mice. ( 30191627 )
2018
40
Varying Evidence on Deep Hypothermic Circulatory Arrest in Thoracic Aortic Aneurysm Surgery. ( 29844738 )
2018
41
Endovascular Treatment of Thoracic Aortic Aneurysm Causing Life-Threatening Hemoptysis: Two Case Reports. ( 29862117 )
2018
42
Ruptured Thoracic Aortic Aneurysm Imaging Pulmonary Embolism. ( 29877279 )
2018
43
Thoracic aortic aneurysm: How to counsel, when to refer. ( 29883307 )
2018
44
SmgGDS Prevents Thoracic Aortic Aneurysm Formation and Rupture by Phenotypic Preservation of Aortic Smooth Muscle Cells. ( 29921611 )
2018
45
Cell-Specific Functions of ADAM17 Regulate the Progression of Thoracic Aortic Aneurysm. ( 29930147 )
2018
46
Preoperative Sarcopenia Portends Worse Outcomes After Descending Thoracic Aortic Aneurysm Repair. ( 29944880 )
2018
47
Wall Shear Stress Estimation of Thoracic Aortic Aneurysm Using Computational Fluid Dynamics. ( 30008797 )
2018
48
Inhibition of the methyltranferase EZH2 improves aortic performance in experimental thoracic aortic aneurysm. ( 29515022 )
2018
49
Massive aggrecan and versican accumulation in thoracic aortic aneurysm and dissection. ( 29515038 )
2018
50
MicroRNA-21 Knockout Exacerbates Angiotensin II-Induced Thoracic Aortic Aneurysm and Dissection in Mice With Abnormal Transforming Growth Factor-β-SMAD3 Signaling. ( 29519942 )
2018
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Variations for Aortic Aneurysm, Familial Thoracic 1

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

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

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

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

Expression for Aortic Aneurysm, Familial Thoracic 1

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

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

(show top 50) (show all 57)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.83 ACTA2 COL3A1 EFEMP2 ELN FBN1 MYH11
2
PAK Pathway 64
Show member pathways
 13.27 ACTA2 MYH11 MYLK SLC2A10 SMAD3 TGFB2
3
Phospholipase-C Pathway 64
Show member pathways
 13.03 ACTA2 COL3A1 EFEMP2 ELN FBN1 TGFB2
4
Circadian entrainment 37
Show member pathways
 12.97 ACTA2 COL3A1 MMP1 MMP2 MMP9 SMAD3
5
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.9 ACTA2 MYH11 TGFB2 TGFBR1 TGFBR2
6
NFAT and Cardiac Hypertrophy 64
Show member pathways
 12.85 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
7
Endometrial cancer 37
Show member pathways
 12.85 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
8
Pathways in cancer 37
12.78 MMP1 MMP2 MMP9 SMAD3 TGFB2 TGFBR1
9
Degradation of the extracellular matrix 66
Show member pathways
 12.62 COL3A1 EFEMP2 ELN FBN1 MMP1 MMP2
10
Integrin Pathway 64
Show member pathways
 12.57 ACTA2 COL3A1 EFEMP2 ELN FBN1 MMP1
11
Development EGFR signaling pathway 22
Show member pathways
 12.49 MMP2 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
12
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.46 SMAD3 TGFB2 TGFBR1 TGFBR2
13
Human T-cell leukemia virus 1 infection 37
12.41 SMAD3 TGFB2 TGFBR1 TGFBR2
14
Cell cycle Role of SCF complex in cell cycle regulation 22
Show member pathways
 12.23 SMAD3 TGFB2 TGFBR1 TGFBR2
15
Cellular senescence (KEGG) 37
12.17 SMAD3 TGFB2 TGFBR1 TGFBR2
16
Hippo signaling pathway 37
12.15 SMAD3 TGFB2 TGFBR1 TGFBR2
17
Transcription Androgen Receptor nuclear signaling 22
Show member pathways
 12.12 MMP2 SMAD3 TGFBR1 TGFBR2
18
FoxO signaling pathway 37
Show member pathways
 12.09 SMAD3 TGFB2 TGFBR1 TGFBR2
19
Apelin signaling pathway 37
12.08 ACTA2 MYLK SMAD3 TGFBR1
20
TGF-beta Signaling Pathway (WikiPathways) 1
12.06 MMP1 SMAD3 TGFBR1 TGFBR2
21
Th1 Differentiation Pathway 65
Show member pathways
 12.04 SMAD3 TGFB2 TGFBR1 TGFBR2
22
SMAD Signaling Network 64
11.99 ACTA2 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
23
Interleukin-4 and 13 signaling 66
11.95 MMP1 MMP2 MMP9
24
Colorectal Cancer Metastasis 64
11.92 MMP1 MMP2 MMP9 SMAD3 TGFB2 TGFBR1
25
Matrix Metalloproteinases 1
Show member pathways
 11.89 MMP1 MMP2 MMP9
26
TGF-beta Signaling Pathways 65
11.87 SMAD3 TGFB2 TGFBR1 TGFBR2
27
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.85 SMAD3 TGFBR1 TGFBR2
28
Angiogenesis (CST) 4
11.83 MMP2 MMP9 TGFB2 TGFBR1
29
TGF-beta signaling pathway (KEGG) 37
11.78 SMAD3 TGFB2 TGFBR1 TGFBR2
30
Loss of Function of SMAD2/3 in Cancer 66
Show member pathways
 11.77 SMAD3 TGFBR1 TGFBR2
31
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.76 ACTA2 COL3A1 EFEMP2 ELN FBN1 MMP1
32
Bladder cancer 37 1
11.74 MMP1 MMP2 MMP9
33
Adherens junction 37
11.73 SMAD3 TGFBR1 TGFBR2
34
Development_TGF-beta receptor signaling 22
11.73 SMAD3 TGFBR1 TGFBR2
35
AGE-RAGE signaling pathway in diabetic complications 37
11.73 COL3A1 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
36
TGF-beta receptor signaling activates SMADs 66
Show member pathways
 11.71 SMAD3 TGFBR1 TGFBR2
37
Elastic fibre formation 66
Show member pathways
 11.71 EFEMP2 ELN FBN1 TGFB2
38
AGE/RAGE pathway 1
11.69 MMP2 MMP9 SMAD3
39
Lung fibrosis 1
11.66 ELN MMP2 MMP9
40
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.66 MMP1 MMP2 MMP9
41
TGF-beta Receptor Signaling (WikiPathways) 1
11.62 SMAD3 TGFBR1 TGFBR2
42
Cell adhesion_ECM remodeling 22
11.62 COL3A1 MMP1 MMP2 MMP9
43
Transcription_P53 signaling pathway 22
11.61 ACTA2 MMP2 SMAD3 TGFB2 TGFBR1 TGFBR2
44
Hepatitis C and Hepatocellular Carcinoma 1
11.56 MMP1 SMAD3 TGFBR1
45
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.56 SMAD3 TGFBR1 TGFBR2
46
Cell adhesion_Plasmin signaling 22
11.54 TGFB2 TGFBR1 TGFBR2
47
Microglia Activation During Neuroinflammation: Steady-State Microglia 65
11.49 TGFB2 TGFBR1 TGFBR2
48
IL-2 Gene Expression in Activated and Quiescent T-Cells 64
Show member pathways
 11.49 MMP2 MMP9 SMAD3 TGFB2 TGFBR1 TGFBR2
49
Cell adhesion_Cell-matrix glycoconjugates 22
11.42 ELN MMP1 MMP9
50
G-protein signaling_Cross-talk between Ras-family GTPases 22
11.38 ACTA2 MYLK TGFB2 TGFBR1 TGFBR2
Sources

GO Terms for Aortic Aneurysm, Familial Thoracic 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.43 COL3A1 ELN FBN1 MMP1 MMP2 MMP9
2 transforming growth factor beta receptor complex GO:0070022 9.16 TGFBR1 TGFBR2
3 collagen-containing extracellular matrix GO:0062023 9.1 COL3A1 ELN FBN1 MMP2 MMP9 TGFB2

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

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

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

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

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
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