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AAT1
MCID: ART067
MIFTS: 61

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 6
Thoracic Aortic Aneurysm 12 6 15 17
Annuloaortic Ectasia 57 73 58
Familial Aortic Dissection 73 58
Aortic Aneurysm, Thoracic 44 70
Aortic Aneurysm, Familial Thoracic 57
Cystic Medial Necrosis of Aorta 58
Aortic Dissection, Familial 57
Aneurysm, Thoracic Aortic 57
Aortic Aneurysm Thoracic 54
Aat1 57
Faa1 57

Characteristics:

Orphanet epidemiological data:

58
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: 32 33
Orphanet: 58  
Rare circulatory system diseases


External Ids:

Disease Ontology 12 DOID:14004
OMIM® 57 607086
OMIM Phenotypic Series 57 PS607086
MeSH 44 D017545
NCIt 50 C27001
SNOMED-CT 67 155421001
ICD10 32 I71.2
ICD10 via Orphanet 33 I71.0
UMLS via Orphanet 71 C0392775
Orphanet 58 ORPHA229
MedGen 41 C0345050
UMLS 70 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) (Updated 20-May-2021)

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 4. 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 spinal cord, and related phenotypes are mucoid extracellular matrix accumulation and cardiomegaly

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

Wikipedia : 73 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 4 family:

Aortic Aneurysm, Familial Thoracic 1 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 285)
# Related Disease Score Top Affiliating Genes
1 aortic aneurysm, familial thoracic 6 33.2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11 FBN1
2 aortic aneurysm, familial thoracic 4 33.1 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYH11 FBN1
3 aortic aneurysm, familial thoracic 2 33.0 SLC2A10 FBN1 COL3A1 ACTA2 AAT2
4 loeys-dietz syndrome 2 33.0 TGFBR2 TGFBR1 MYH11 FBN1
5 loeys-dietz syndrome 1 32.5 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
6 meester-loeys syndrome 32.4 SLC2A10 MIR122 EFEMP2
7 patent ductus arteriosus 1 32.1 TGFBR2 TGFBR1 SLC2A10 MYLK MYH11 FBN1
8 aortic valve insufficiency 31.5 TGFBR2 TGFBR1 MYH11 FBN1 ELN EFEMP2
9 aneurysm 31.5 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
10 familial thoracic aortic aneurysm and aortic dissection 31.5 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
11 aortic aneurysm 31.4 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
12 mitral valve insufficiency 31.3 MYH11 FBN1 ELN
13 ehlers-danlos syndrome 31.2 TGFBR1 FBN1 ELN COL3A1
14 hemopericardium 31.2 FBN1 ELN
15 marfan syndrome 31.1 TGFBR2 TGFBR1 MYLK MYH11 MMP2 MMP1
16 heritable thoracic aortic disease 31.0 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 FBN1
17 aortic valve disease 2 30.9 MIR424 FBN1 ELN
18 intracranial aneurysm 30.8 TGFBR2 TGFBR1 MMP2 ELN COL3A1
19 aortic dissection 30.8 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
20 mitral valve disease 30.8 MMP1 FBN1 ELN
21 lipoprotein quantitative trait locus 30.7 TGFBR2 SMAD3 MYH11 FBN1 ELN ACTA2
22 loeys-dietz syndrome 4 30.6 TGFBR2 TGFBR1 SMAD3 SLC2A10 FBN1
23 cerebral aneurysms 30.6 MMP2 ELN
24 pneumothorax 30.5 MMP2 MMP1 FBN1 ELN
25 pulmonary fibrosis 30.5 SMAD3 MMP2 MMP1 ELN
26 inguinal hernia 30.5 MMP2 MMP1 FBN1 ELN
27 moyamoya disease 1 30.5 MYLK MYH11 ELN ACTA2
28 pulmonary fibrosis, idiopathic 30.3 TGFBR1 SMAD3 MMP2 MMP1 ELN COL3A1
29 loeys-dietz syndrome 3 30.3 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
30 connective tissue disease 30.2 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 MIR122
31 aortic aneurysm, familial abdominal, 1 30.2 TGFBR2 MYH11 MMP2 MMP1 FBN1 ELN
32 arterial tortuosity syndrome 30.2 TGFBR2 TGFBR1 SLC2A10 MYH11 FBN1 ELN
33 aortic disease 30.0 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 MIR424
34 loeys-dietz syndrome 30.0 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
35 aortic valve disease 1 29.9 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
36 aortic aneurysm, familial thoracic 8 11.9
37 aortic aneurysm, familial thoracic 9 11.9
38 aortic aneurysm, familial thoracic 11 11.9
39 aortic aneurysm, familial thoracic 10 11.8
40 multisystemic smooth muscle dysfunction syndrome 11.7
41 aortic aneurysm, familial thoracic 7 11.4
42 rare disease with thoracic aortic aneurysm and aortic dissection 11.3
43 cystic medial necrosis of aorta 11.2
44 paraplegia 10.8
45 dysphagia 10.6
46 vascular disease 10.6
47 late-onset focal dermal elastosis 10.5 FBN1 ELN
48 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.5 FBN1 ELN
49 respiratory failure 10.5
50 microcolon 10.5 MYLK MYH11

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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Human phenotypes related to Aortic Aneurysm, Familial Thoracic 1:

31 58 (show all 27)
# 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 ascending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0004933
4 descending aortic dissection 58 31 frequent (33%) Frequent (79-30%) HP:0012499
5 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
6 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
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 paroxysmal dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0012763
11 aortic root aneurysm 31 frequent (33%) HP:0002616
12 abnormal left ventricular function 31 frequent (33%) HP:0005162
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 left ventricular dysfunction 58 Frequent (79-30%)
24 peripheral vascular insufficiency 58 Occasional (29-5%)
25 occlusive arterial disease 58 Occasional (29-5%)
26 carotid artery aneurysm 58 Occasional (29-5%)
27 cystic medial necrosis of the aorta 58 Very frequent (99-80%)

Clinical features from OMIM®:

607086 (Updated 20-May-2021)

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

46
# 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
Sources

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 top 50) (show all 72)
# 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
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
7
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Iron Approved Phase 4 7439-89-6 23925 29936
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
11
Tryptophan Approved, Nutraceutical, Withdrawn Phase 4 73-22-3 6305
12
Cadexomer iodine Experimental Phase 4 94820-09-4
13
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
14 Anticonvulsants Phase 4
15 diuretics Phase 4
16 Carbonic Anhydrase Inhibitors Phase 4
17 Antigen-Antibody Complex Phase 4
18 Pharmaceutical Solutions Phase 4
19 Methylprednisolone Acetate Phase 4
20 Adrenergic Agents Phase 4
21 Neurotransmitter Agents Phase 4
22 Adrenergic alpha-Agonists Phase 4
23 Hypnotics and Sedatives Phase 4
24 Adrenergic Agonists Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Analgesics Phase 4
27
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
28 Natriuretic Peptide, Brain Phase 3
29
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
30
Naloxone Approved, Vet_approved Phase 2 465-65-6 5284596
31
Nicardipine Approved, Investigational Phase 2 55985-32-5 4474
32 Anesthetics Phase 2
33 Anesthetics, General Phase 2
34 Anesthetics, Intravenous Phase 2
35 Anesthetics, Dissociative Phase 2
36 Excitatory Amino Acid Antagonists Phase 2
37 Analgesics, Opioid Phase 2
38 Antihypertensive Agents Phase 2
39 Vasodilator Agents Phase 2
40 Hormones Phase 2
41 calcium channel blockers Phase 2
42 Calcium, Dietary Phase 2
43
Calcium Nutraceutical Phase 2 7440-70-2 271
44
Thrombin Approved, Investigational
45
sodium fluoride Approved 7681-49-4
46
Atenolol Approved 29122-68-7 2249
47
Captopril Approved 62571-86-2 44093
48
Nicotine Approved 54-11-5 942 89594
49
Angiotensin II Approved, Investigational 68521-88-0, 4474-91-3, 11128-99-7 172198
50
Losartan Approved 114798-26-4 3961

Interventional clinical trials:

(show top 50) (show all 127)
# 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 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®
6 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
7 CUstodiol Versus RInger: whaT Is the Best Agent? A Randomized Double Blind Trial. Completed NCT02327611 Phase 4 Custodiol;Enriched Ringer's lactate solution
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 Physician-Initiated Trial Investigating the BeGraft Peripheral Plus Stent Graft System as Bridging Stent in BEVAR for Complex Aortic Aneurysms Recruiting NCT03982940 Phase 3
15 Physician-Initiated Trial Investigating the BeGraft Peripheral Plus Stent Graft System as Bridging Stent in BEVAR for Complex Aortic Aneurysms Recruiting NCT03987035 Phase 3
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 Evaluation of the GORE TAG® Thoracic Endoprosthesis - 45 mm for the Primary Treatment of Aneurysms of the Descending Thoracic Aorta Completed NCT00608829 Phase 2
18 A Randomized, Double-blind, Placebo-controlled, Study to Identify the Opioid-sparing Effects, and Pain-reduction Potential of Low Dose Ketamine on Patients Undergoing TEVAR Procedures Receiving NCI Not yet recruiting NCT04600089 Phase 2 Saline;Ketamine
19 NICardipine Neuroprotection in AortiC Surgery (NICNACS) Terminated NCT00508118 Phase 2 Nicardipine;0.9% saline
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 Comparison of Carbon Dioxide Flush and Saline Flush to Saline Flush Alone in TEVAR and TAVI Procedures to Reduce Cerebral Ischemia Recruiting NCT03998631 Phase 1
22 Detection of Hypoxia in Human Thoracic Aorta Using Pimonidazole Hydrochloride Recruiting NCT03410420 Phase 1 Pimonidazole hydrochloride
23 A Chinese Registry to Determine the Genetic Risk Factors and Serumal Biomarkers for Thoracic Aortic Aneurysm/Dissection Unknown status NCT03010514
24 Clinical Study of Thoracic Aortic Aneurysm Exclusion Using the VALIANT System Unknown status NCT00549315
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 Evaluation of the Safety and Efficacy of Multiple Overlapping Uncovered Stents for Endovascular Pararenal Aortic Aneurysm Repair Unknown status NCT01985906
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 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
30 A Clinical Evaluation of the GORE TAG Thoracic Endoprosthesis in the Primary Treatment of Descending Thoracic Aortic Aneurysms Completed NCT00590759
31 A Pilot Trial to Evaluate the Performance of the TriVascular Thoracic Stent Graft System Completed NCT01082172
32 Zenith TX2® TAA Endovascular Graft Post-approval Study Completed NCT00813358
33 Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA) Completed NCT02256163
34 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
35 Study of Thoracic Aortic Aneurysm Repair With the Zenith TX2 Endovascular Graft Completed NCT00111176
36 Relationship Between Indexed Aortic Area and Aortic Diameter in Bicuspid Aortic Valve Aortopathy: A Retrospective Cohort Study Completed NCT04756778
37 Valiant Mona LSA Stent Graft System Early Feasibility Study Completed NCT01839695
38 Phase II Clinical Study of the Safety and Efficacy of the Relay Thoracic Stent-Graft in Patients With Thoracic Aortic Pathologies Completed NCT00435942
39 Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic Aneurysm : Prevalence, Description of the Different Thoracic Aortic Phenotypes by Aortic Volumetric Numerized Imaging and Their Relationship With Epidemiologic, Clinical, Biological and Genetic Factors Completed NCT01599533
40 Is Obstructive Sleep Apnoea a Risk Factor for Thoracic Aortic Aneurysm Expansion? A Prospective Cohort Study. Completed NCT02204774
41 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
42 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
43 Development of Ultra-Low Dose CT Based Screening for Aortic Aneurysms Completed NCT03479164
44 Neurophysiological Intraoperative Monitoring During Aortic Surgery Completed NCT02644681
45 A Randomized Controlled Trial of Axillary vs. Innominate Artery Cannulation for Antegrade Cerebral Protection in Aortic Surgery: The ACE Randomized Trial Completed NCT02554032
46 Noninvasive Neuromonitoring of Surgery of the Thoracic Aorta Completed NCT02876263
47 Clinical Application of the Medyria TrackCath System in Endovascular Repair of Abdominal Aortic Aneurysms (AAA) - A Prospective Multi-centre Clinical Trial. Completed NCT04190979
48 A Comparison of Cold Blood Versus Cold Crystalloid Renal Perfusion for Prevention of Acute Renal Failure Following Thoracoabdominal Aortic Aneurysm Repair: A Randomized Study Completed NCT00691756
49 Totally Percutaneous Approach to Endovascular Treatment of Aortic Aneurysms (PEVAR-PRO) Completed NCT03484013
50 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

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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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, Spinal Cord, Heart, Kidney, Liver, Endothelial, Brain
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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 2321)
# Title Authors PMID Year
1
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. 57 61
17676603 2007
2
Heritable thoracic aortic disorders. 57
24284977 2014
3
Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. 57
11369687 2001
4
Iris flocculi and familial aortic dissection. 57
7575269 1995
5
Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. 57
2006634 1991
6
Familial aortic dissection: a report of rare family cluster. 57
2923761 1989
7
Coarctation of the aorta, bicuspid aortic valve and abnormal ascending aortic wall. 57
3276120 1988
8
Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm. 57
913155 1977
9
Association of congenital bicuspid aortic valve and erdheim's cystic medial necrosis. 57
4112361 1972
10
Familial dissecting aortic aneurysm. A report of three cases within two generations. 57
4228664 1967
11
Association of aortic valvular disease and cystic medial necrosis of the ascending aorta; report of four instances. 57
13447162 1957
12
Dissecting aneurysm of the aorta; review of 29 cases. 57
12980374 1952
13
Dissecting aneurysm o the aorta in mother and child. 57
14848392 1951
14
Serum levels of matrix metalloproteinases -1,-2,-3 and -9 in thoracic aortic diseases and acute myocardial ischemia. 61 54
19886986 2009
15
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
16
Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension. 61 54
18264665 2008
17
Investigation of the MYH11 gene in sporadic patients with an isolated persistently patent arterial duct. 61 54
17956658 2007
18
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 61 54
11826022 2002
19
[Thoracic aortic aneurysm. New evidence for fibrillin-1 involvement]. 61 54
10670197 1999
20
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. 54 61
9723636 1998
21
Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities. 61
33715602 2021
22
LncRNA Xist induces arterial smooth muscle cell apoptosis in thoracic aortic aneurysm through miR-29b-3p/Eln pathway. 61
33761588 2021
23
A case of infectious thoracic aortic aneurysm after intravesical Bacillus Calmette-Guérin instillation therapy for a superficial bladder cancer. 61
33552915 2021
24
Hybrid surgical and endovascular repair for anastomotic pseudoaneurysms after total arch replacement. 61
31663409 2021
25
Estimating aortic thoracic aneurysm rupture risk using tension-strain data in physiological pressure range: an in vitro study. 61
33389275 2021
26
Clinical Characteristics of Aortic Aneurysm in MIMIC-III. 61
33798047 2021
27
Body Mass Index and Mortality From Aortic Aneurysm and Dissection. 61
32727971 2021
28
Is there an immunogenomic difference between thoracic and abdominal aortic aneurysms? 61
33604952 2021
29
Perioperative Management of a Patient With Profound Thrombocytopenia Secondary to MYH9-RD Presenting for Thoracic Aortic Aneurysm Repair and Aortic Valve Replacement. 61
32861542 2021
30
Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease. 61
33334864 2021
31
Sex-related Outcomes after Fenestrated-Branched Endovascular Aneurysm Repair for Thoracoabdominal Aortic Aneurysms in the U.S. Aortic Research Consortium. 61
33775747 2021
32
Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms-A Case-Based Review. 61
33807627 2021
33
Novel Blood Biomarkers for a Diagnostic Workup of Acute Aortic Dissection. 61
33808169 2021
34
Characterization of Ascending Aortic Flow in Patients With Degenerative Aneurysms: A 4D Flow Magnetic Resonance Study. 61
33653992 2021
35
Clinical outcomes of endovascular treatment for ruptured thoracic aortic disease. 61
32264656 2021
36
Emergent open conversion for stent-graft deployment failure in a ruptured thoracic aneurysm. 61
33748558 2021
37
Prediction of local strength of ascending thoracic aortic aneurysms. 61
33348213 2021
38
Extracellular Tuning of Mitochondrial Respiration Leads to Aortic Aneurysm. 61
33709773 2021
39
Single-stage hybrid procedure for ruptured calcified thoracic aortic aneurysm caused by Takayasu's arteritis. 61
33068257 2021
40
Preoperative disseminated intravascular coagulation complicated by thoracic aortic aneurysm treated using recombinant human soluble thrombomodulin: A case report. 61
33655983 2021
41
Management of Patients With Thoracic Aortic Aneurysm: A Challenging Problem for the Clinician. 61
33760006 2021
42
Periscope Technique for Superior Mesenteric Artery and Thoracic Stent Graft Extension for Type Ib Endoleak with Ruptured Thoracic Aortic Aneurysm. 61
33414068 2021
43
Association of Ankle Brachial Index with Clinical Outcomes Following Percutaneous Coronary Intervention in Patients with Aortic Aneurysm. 61
33716287 2021
44
LOXL4 Abrogation Does Not Exaggerate Angiotensin II-Induced Thoracic or Abdominal Aortic Aneurysm in Mice. 61
33807332 2021
45
The potential role of chemotaxis and the complement system in the formation and progression of thoracic aortic aneurysms inferred from the weighted gene coexpression network analysis. 61
33531038 2021
46
Pre- and postoperative left atrial and ventricular volumetric and deformation analyses in severe aortic regurgitation. 61
33583414 2021
47
Respiratory Failure after Open Descending Aortic Aneurysm Repair: Risk Factors and Outcomes. 61
32611930 2021
48
Moderate Aerobic Exercise Prevents Matrix Degradation and Death in a Mouse Model of Aortic Dissection and Aneurysm. 61
33635167 2021
49
Trends and Outcomes of Elective Thoracic Aortic Repair and Acute Thoracic Aortic Syndromes in the United States. 61
33631161 2021
50
Development and Validation of a Simplified Probability Assessment Score Integrated With Age-Adjusted d-Dimer for Diagnosis of Acute Aortic Syndromes. 61
33474974 2021
Sources

Variations for Aortic Aneurysm, Familial Thoracic 1

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMAD3 NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter) SNV risk factor 549889 rs387906853 GRCh37: 15:67473635-67473635
GRCh38: 15:67181297-67181297
2 COL3A1 NM_000090.3(COL3A1):c.1897G>A (p.Gly633Arg) SNV risk factor 549890 rs1553508473 GRCh37: 2:189862453-189862453
GRCh38: 2:188997727-188997727
3 TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) SNV Uncertain significance 44651 rs35766612 GRCh37: 3:30713834-30713834
GRCh38: 3:30672342-30672342
4 TGFBR2 NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) SNV Likely benign 161394 rs112215250 GRCh37: 3:30733044-30733044
GRCh38: 3:30691552-30691552
5 TGFBR2 NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) SNV not provided 44651 rs35766612 GRCh37: 3:30713834-30713834
GRCh38: 3:30672342-30672342
6 MYH11 NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) SNV not provided 161317 rs150759461 GRCh37: 16:15872688-15872688
GRCh38: 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 CCDC181 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 TAFA3 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 CDK11B Thoracic aortic aneurysm
17 33730 1 475171 1142494 Gainb CDK11A Thoracic aortic aneurysm
18 33731 1 475171 1142494 Gainb INTS11 Thoracic aortic aneurysm
19 33732 1 475171 1142494 Gainb DVL1 Thoracic aortic aneurysm
20 33733 1 475171 1142494 Gainb CPTP 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 PIFO 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 RNLS 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 RTRAF 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.
Sources

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 all 34)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.69 TGFBR2 TGFBR1 SMAD3 MYLK MYH11 FBN1
2
PAK Pathway 63
Show member pathways
 13.2 TGFBR2 TGFBR1 SMAD3 SLC2A10 MYLK MYH11
3
Phospholipase-C Pathway 63
Show member pathways
 12.98 TGFBR1 FBN1 ELN EFEMP2 COL3A1 ACTA2
4
Circadian entrainment 36
Show member pathways
 12.91 TGFBR2 TGFBR1 MMP2 MMP1 COL3A1 ACTA2
5
Pathways in cancer 36
12.76 TGFBR2 TGFBR1 SMAD3 MMP2 MMP1
6
Degradation of the extracellular matrix 65
Show member pathways
 12.56 MMP2 MMP1 FBN1 ELN EFEMP2 COL3A1
7
Integrin Pathway 63
Show member pathways
 12.51 TGFBR2 TGFBR1 MYLK MYH11 MMP2 MMP1
8
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.22 TGFBR2 TGFBR1 SMAD3 MMP2
9
Apelin signaling pathway 36
11.97 TGFBR1 SMAD3 MYLK ACTA2
10
TGF-beta Signaling Pathway (WikiPathways) 1
11.94 TGFBR2 TGFBR1 SMAD3 MMP1
11
Cell cycle Regulation of G1/S transition (part 1) 23
Show member pathways
 11.87 TGFBR2 TGFBR1 SMAD3
12
Colorectal Cancer Metastasis 63
11.87 TGFBR2 TGFBR1 SMAD3 MMP2 MMP1
13
TGF-beta Signaling Pathways 64
11.81 TGFBR2 TGFBR1 SMAD3
14
Cytokine production by Th17 cells in CF (Mouse model) 23
Show member pathways
 11.79 TGFBR2 TGFBR1 SMAD3
15
Th17 Differentiation Pathway 64
Show member pathways
 11.78 TGFBR2 TGFBR1 SMAD3
16
SMAD2/3 MH2 Domain Mutants in Cancer 65
Show member pathways
 11.7 TGFBR2 TGFBR1 SMAD3
17
TGF-beta signaling pathway (KEGG) 36
11.68 TGFBR2 TGFBR1 SMAD3 FBN1
18
Elastic fibre formation 65
Show member pathways
 11.67 FBN1 ELN EFEMP2
19
Development_TGF-beta receptor signaling 23
11.66 TGFBR2 TGFBR1 SMAD3
20
Adherens junction 36
11.64 TGFBR2 TGFBR1 SMAD3
21
TGF-beta receptor signaling activates SMADs 65
Show member pathways
 11.63 TGFBR2 TGFBR1 SMAD3
22
Cell adhesion_ECM remodeling 23
11.55 MMP2 MMP1 COL3A1
23
AGE-RAGE signaling pathway in diabetic complications 36
11.55 TGFBR2 TGFBR1 SMAD3 MMP2 COL3A1
24
TGF-beta Receptor Signaling (WikiPathways) 1
11.51 TGFBR2 TGFBR1 SMAD3
25
IL-2 Gene Expression in Activated and Quiescent T-Cells 63
Show member pathways
 11.47 TGFBR2 TGFBR1 SMAD3 MMP2
26
Transcription_P53 signaling pathway 23
11.45 TGFBR2 TGFBR1 SMAD3 MMP2 ACTA2
27
TGF-beta receptor signaling (Pathway Interaction Database) 1
11.44 TGFBR2 TGFBR1 SMAD3
28
Hepatitis C and Hepatocellular Carcinoma 1
11.43 TGFBR1 SMAD3 MMP1
29
Smooth Muscle Contraction 65
11.23 MYLK MYH11 ACTA2
30
Extracellular vesicle-mediated signaling in recipient cells 1
11.11 TGFBR2 TGFBR1 SMAD3
31
G-protein signaling_Rap2B regulation pathway 23
10.95 MYLK FBN1 ELN EFEMP2 COL3A1
32
IL-4 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types 64
10.89 TGFBR2 TGFBR1
33
NTHi-Induced Signaling 63
10.87 TGFBR2 TGFBR1 SMAD3
34
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.65 TGFBR2 TGFBR1 SMAD3 FBN1
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 collagen-containing extracellular matrix GO:0062023 9.55 MMP2 FBN1 ELN EFEMP2 COL3A1
2 microfibril GO:0001527 9.26 FBN1 EFEMP2
3 extracellular matrix GO:0031012 9.1 MMP2 MMP1 FBN1 ELN EFEMP2 COL3A1
4 elastic fiber GO:0071953 8.96 ELN EFEMP2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.83 TGFBR2 TGFBR1 FBN1 COL3A1
2 muscle contraction GO:0006936 9.76 MYLK MYH11 ACTA2
3 skeletal system development GO:0001501 9.73 TGFBR1 SMAD3 FBN1 COL3A1
4 cellular response to transforming growth factor beta stimulus GO:0071560 9.69 TGFBR1 SMAD3 FBN1
5 extracellular matrix organization GO:0030198 9.65 MMP2 MMP1 FBN1 ELN COL3A1
6 positive regulation of epithelial to mesenchymal transition GO:0010718 9.63 TGFBR2 TGFBR1 SMAD3
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.62 TGFBR2 TGFBR1 SMAD3 COL3A1
8 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.59 TGFBR2 TGFBR1
9 smooth muscle contraction GO:0006939 9.58 MYLK MYH11
10 pathway-restricted SMAD protein phosphorylation GO:0060389 9.57 TGFBR2 TGFBR1
11 response to cholesterol GO:0070723 9.56 TGFBR2 TGFBR1
12 cellular response to UV-A GO:0071492 9.55 MMP2 MMP1
13 elastic fiber assembly GO:0048251 9.54 MYH11 EFEMP2
14 embryonic cranial skeleton morphogenesis GO:0048701 9.54 TGFBR2 TGFBR1 SMAD3
15 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.49 TGFBR2 TGFBR1
16 aorta smooth muscle tissue morphogenesis GO:0060414 9.48 MYLK EFEMP2
17 wound healing GO:0042060 9.46 TGFBR2 TGFBR1 SMAD3 COL3A1
18 positive regulation of aortic smooth muscle cell differentiation GO:1904831 9.4 MIR424 EFEMP2
19 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.26 TGFBR2 TGFBR1 SMAD3 SLC2A10
20 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 9.4 TGFBR2 TGFBR1
2 I-SMAD binding GO:0070411 9.37 TGFBR1 SMAD3
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 TGFBR2 TGFBR1
4 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN1 ELN
5 transforming growth factor beta-activated receptor activity GO:0005024 9.16 TGFBR2 TGFBR1
6 SMAD binding GO:0046332 9.13 TGFBR2 TGFBR1 SMAD3
7 extracellular matrix structural constituent GO:0005201 8.92 FBN1 ELN EFEMP2 COL3A1
Sources

Sources for Aortic Aneurysm, Familial Thoracic 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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