MCID: ATY022
MIFTS: 35

Atypical Coarctation of Aorta

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Atypical Coarctation of Aorta

MalaCards integrated aliases for Atypical Coarctation of Aorta:

Name: Atypical Coarctation of Aorta 58
Middle Aortic Syndrome 58 71
Midaortic Syndrome 58 6
Coarctation of the Abdominal Aorta 58
Mid-Aortic Dysplastic Syndrome 58
Mid-Aortic Syndrome 58
Takayasu Arteritis 71

Characteristics:

Orphanet epidemiological data:

58
atypical coarctation of aorta
Inheritance: Not applicable; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q25.1
UMLS via Orphanet 72 C3805239
Orphanet 58 ORPHA1456
UMLS 71 C0039263 C3496579

Summaries for Atypical Coarctation of Aorta

MalaCards based summary : Atypical Coarctation of Aorta, also known as middle aortic syndrome, is related to heart septal defect and pulmonic stenosis. An important gene associated with Atypical Coarctation of Aorta is GATA6 (GATA Binding Protein 6). The drugs Adalimumab and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include t cells, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Atypical Coarctation of Aorta

Diseases related to Atypical Coarctation of Aorta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 heart septal defect 29.8 JAG1 GATA6
2 pulmonic stenosis 29.7 NF1 JAG1
3 ventricular septal defect 29.6 JAG1 GATA6
4 moyamoya disease 1 29.0 RNF213 NF1 JAG1
5 neurofibromatosis 10.5
6 renal hypertension 10.4
7 renovascular hypertension 10.4
8 coarctation of aorta 10.4
9 intermittent claudication 10.3
10 aortitis 10.3
11 takayasu arteritis 10.3
12 malignant hypertension 10.3
13 aneurysm 10.3
14 fibromuscular dysplasia 10.1
15 pheochromocytoma 10.1
16 williams-beuren syndrome 10.1
17 hurler syndrome 10.1
18 mucopolysaccharidosis-plus syndrome 10.1
19 adrenal gland pheochromocytoma 10.1
20 splenic artery aneurysm 10.1
21 gastroenteritis 10.1
22 uremia 10.1
23 renal dysplasia 10.1
24 dilated cardiomyopathy 10.1
25 acute kidney failure 10.1
26 polyhydramnios 10.1
27 vasculitis 10.1
28 renal artery disease 10.1
29 alagille syndrome 1 10.0
30 aortic aneurysm 10.0
31 neuroblastoma 10.0
32 celiac disease 1 9.9
33 dermatitis herpetiformis, familial 9.9
34 fetal alcohol syndrome 9.9
35 alcohol-related birth defect 9.9
36 intracranial aneurysm 9.9
37 respiratory failure 9.9
38 iga glomerulonephritis 9.9
39 aortic disease 9.9
40 mediastinitis 9.9
41 dermatitis herpetiformis 9.9
42 cerebral aneurysms 9.9
43 rare vascular disease 9.9
44 atrial standstill 1 9.9
45 hydrops fetalis, nonimmune 9.9
46 limb ischemia 9.9
47 scoliosis 9.9
48 sarcoma 9.9
49 cholestasis 9.9
50 malignant renovascular hypertension 9.9

Graphical network of the top 20 diseases related to Atypical Coarctation of Aorta:



Diseases related to Atypical Coarctation of Aorta

Symptoms & Phenotypes for Atypical Coarctation of Aorta

GenomeRNAi Phenotypes related to Atypical Coarctation of Aorta according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.36 GATA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.36 NF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.36 NF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.36 NF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.36 GATA6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.36 NF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.36 GATA6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.36 NF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.36 GATA6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.36 NF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.36 GATA6

MGI Mouse Phenotypes related to Atypical Coarctation of Aorta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 GATA6 JAG1 NF1 RNF213
2 normal MP:0002873 8.92 GATA6 JAG1 NF1 RNF213

Drugs & Therapeutics for Atypical Coarctation of Aorta

Drugs for Atypical Coarctation of Aorta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
2
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
3
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
4
Tofacitinib Approved, Investigational Phase 4 477600-75-2
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6 Immunosuppressive Agents Phase 4
7 Immunologic Factors Phase 4
8 Antirheumatic Agents Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Immunoglobulins Phase 4
11 Antibodies Phase 4
12 Immunoglobulins, Intravenous Phase 4
13 Dermatologic Agents Phase 4
14 Protein Kinase Inhibitors Phase 4
15 Folic Acid Antagonists Phase 4
16 Vitamin B Complex Phase 4
17 Antimetabolites Phase 4
18 Folate Phase 4
19 Vitamin B9 Phase 4
20
Mycophenolic acid Approved Phase 3 24280-93-1 446541
21
Azathioprine Approved Phase 3 446-86-6 2265
22
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
23 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
24
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
25
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
26
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
27
Upadacitinib Approved, Investigational Phase 3 1310726-60-3 58557659
28
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
29
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
30
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
31 Methylprednisolone Acetate Phase 3
32 Janus Kinase Inhibitors Phase 3
33 glucocorticoids Phase 2, Phase 3
34 Hormones Phase 2, Phase 3
35 Hormone Antagonists Phase 2, Phase 3
36 Antineoplastic Agents, Hormonal Phase 2, Phase 3
37 Alkylating Agents Phase 2, Phase 3
38
Abatacept Approved Phase 2 332348-12-6 10237
39
Naltrexone Approved, Investigational, Vet_approved Phase 2 16590-41-3 5360515
40
Ethanol Approved Phase 2 64-17-5 702
41
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
42
Infliximab Approved Phase 2 170277-31-3
43 Narcotics Phase 2
44 Narcotic Antagonists Phase 2
45 Analgesics, Non-Narcotic Phase 2
46 Analgesics Phase 2
47 Interleukin-2 Phase 2
48 Gastrointestinal Agents Phase 2
49
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
50
tannic acid Approved 1401-55-4

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 A Pilot Study in the Treatment of Severe Patients With Takayasu Arteritis With Tocilizumab and Adalimumab, Based on ECTA Cohort Recruiting NCT04300686 Phase 4
2 Randomized Open-label Study in Mild and Moderate Patients With Takayasu Arteritis Between Methotrexate and Tofacitinib Based on the ECTA Cohort. Recruiting NCT04299971 Phase 4 Methotrexate Tablets;Tofacitinib tablet
3 Comparison of the Efficacy of Mycophenolate Mofetil Combined With Methotrexate and Cyclophosphamide for the Treatment of Takayasu's Arteritis Unknown status NCT03096275 Phase 3 MMF;CYC;Glucocorticoids;MTX;AZA
4 Efficacy and Tolerance of First-line Treatment With Tocilizumab in Active Takayasu Arteritis French Prospective Multicenter Study Completed NCT02101333 Phase 3 Tocilizumab
5 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Upadacitinib in Subjects With Takayasu Arteritis (SELECT-Takayasu) Recruiting NCT04161898 Phase 3 Upadacitinib;Placebo for Upadacitinib;Prednisolone
6 Does Inactive Takayasu Arteritis(NIH Criteria) Need Anti-inflammatory Treatment? Not yet recruiting NCT03550781 Phase 2, Phase 3 Prednisone, cyclophosphamide
7 Anti-tumor Necrosis Factor Therapy Effect on Takayasu Arteritis Unknown status NCT02457585 Phase 2 remicade (anti tumor necrosis factor inhibitor)
8 Concurrent Pilot Studies in Giant Cell Arteritis and Takayasu's Arteritis to Examine the Safety, Efficacy, and Immunologic Effects of Abatacept (CTLA4-Ig) in Large Vessel Vasculitis Completed NCT00556439 Phase 2 Abatacept;Placebo
9 Low Dose Naltrexone to Improve Physical Health in Patients With Vasculitis Recruiting NCT03482479 Phase 2 Naltrexone Hydrochloride
10 Induction of Regulatory t Cells by Low Dose IL2 in Autoimmune and Inflammatory Diseases: a Transnosographic Approach Active, not recruiting NCT01988506 Phase 2 Interleukin 2
11 Multicentre, Randomized, Prospective Trial Evaluating the Efficacy and Safety of Infliximab to Tocilizumab in Refractory or Relapsing Takayasu Arteritis Not yet recruiting NCT04564001 Phase 2 Infliximab;Tocilizumab
12 Registration Study of Takayasu's Arteritis in China Unknown status NCT03199183
13 Effects of Exercise Training in Primary Sjogren´s Syndrome, Myositis and Takayasu's Arteritis Unknown status NCT01501019
14 Comparison of the Efficacy and Safety of Leflunomide Versus Placebo Combine With the Basic Prednisone Therapy in Patients With Active Phase of Takayasu's Arteritis: a Randomized Controlled Double-blinded Trial Unknown status NCT02981979 Leflunomide 10mg Tab;Prednisone Acetate;Placebos
15 A Prospective Observational Study of Infliximab Biosimilar in the Treatment of Takayasu's Arteritis Resistant to Corticosteroids and Conventional Immune-suppressive Treatments Unknown status NCT03192878 Infliximab
16 Exercise in Juvenile Takayasu Disease: a Randomized Controlled Trial Unknown status NCT03494062
17 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055 anti-thymocyte globulin;cyclophosphamide;cyclosporine;filgrastim;methylprednisolone;prednisone
18 ACR/EULAR Endorsed Study to Develop New Diagnostic and Classification Criteria for Primary Systemic Vasculitis Unknown status NCT01066208
19 Impact and Utility of Positron Emission Tomography (PET) for the Assessment of Inflammatory Activity Arteritis Versus Clinical Score and Laboratory Values in Takayasu Arteritis: a Cohort Study Completed NCT01532167
20 The Long-term Success of Cardiovascular Surgery in Takayasu Arteritis. 30 Years of Experience in Mexico, Beyond Forefront Techniques Completed NCT03654222
21 VCRC Imaging Protocol for Magnetic Resonance and Positron Emission Tomography in Large-vessel Vasculitis (Takayasu's Arteritis):Development as Clinical Trial Outcome Measures Completed NCT00744952
22 Pulmonary Artery Involvement in Takayasu's Arteritis: a Retrospective Study in China Completed NCT03189602
23 Contrast Enhanced Ultrasound for Assessment of Carotid Artery Neovascularization as a Marker of Disease Activity in Takayasu's Arteritis and Giant Cell Arteritis Completed NCT01795456
24 Reproductive Health in Men and Women With Vasculitis Completed NCT02176070
25 Illness Perception, Fatigue, and Function in Systemic Vasculitis (The VCRC Vasculitis Perception (VIP) Study) Completed NCT02190916
26 Evaluation of Yellow Fever Vaccine in Patients With Rheumatic Diseases Under Low Immunosuppression Level and Residing in a Risk Area Completed NCT03430388
27 The Journey of Patients With Vasculitis From First Symptom to Diagnosis Completed NCT03410290
28 VCRC Validation of Patient-Reported Diagnostic Data Completed NCT02190942
29 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Completed NCT03941184
30 The Biodistribution of 18F-Clofarabine in Patients With Autoimmune and Inflammatory Diseases Completed NCT02925351 Early Phase 1
31 Educational Needs of Patients With Systemic Vasculitis- an International Survey Completed NCT02190929
32 Impact of Vasculitis on Employment and Income. An Online Survey of Participants in the VCRC Patient Contact Registry Completed NCT02476292
33 Observational Multicenter Study of Refractory and/or Relapsing Takayasu Arteritis START: Study of Refractory and/or Relapsing TAkayasu aRTeritis Recruiting NCT03543527
34 The PET Imaging of Giant Cell and Takayasu Arteritis Study Recruiting NCT04071691
35 China Takayasu Arteritis Registry (CTA Registry) Recruiting NCT02964364
36 Takayasu Arteritis Activity Evaluation by Ultrafast Ultrasound Imaging Recruiting NCT03956394
37 The Cohort Study of East Chinese Takayasu's Arteritis (ECTA-cohort Study) Recruiting NCT03893136 Leflunomide
38 A Registry Study on Biomarkers of Takayasu's Arteritis Recruiting NCT03372980
39 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866
40 Aerobic Capacity and Strength Exercise in Takayasu's Arteritis: Impact on Clinical, Laboratory and Vascular Parameters Recruiting NCT03750929
41 Chronic Childhood Vasculitis: Characterizing the Individual Rare Diseases to Improve Patient Outcomes Recruiting NCT02006134
42 The Vasculitis Pregnancy Registry (V-PREG) Recruiting NCT02593565
43 VCRC Tissue Biorepository Collection Protocol Recruiting NCT02967068
44 VCRC Longitudinal Protocol for Takayasu's Arteritis Active, not recruiting NCT00315471
45 VCRC Genetic Repository One-Time DNA Protocol Active, not recruiting NCT01241305
46 The Effects and Safety of Drug-coated Balloon in the Treatment of Hypertension Caused by Takayasu Arteritis Associated Renal Artery Stenosis: a Single Centre, Random, Double Blind Trial Not yet recruiting NCT04137614

Search NIH Clinical Center for Atypical Coarctation of Aorta

Genetic Tests for Atypical Coarctation of Aorta

Anatomical Context for Atypical Coarctation of Aorta

MalaCards organs/tissues related to Atypical Coarctation of Aorta:

40
T Cells

Publications for Atypical Coarctation of Aorta

Articles related to Atypical Coarctation of Aorta:

(show top 50) (show all 129)
# Title Authors PMID Year
1
Renovascular hypertension in children. 61
33411105 2021
2
Treatment of middle aortic syndrome with thoraco-abdominal aortic bypass grafting assisted by endoscope in adult. 61
33412990 2021
3
Complex Aortic, Visceral and Renal Arteries Reconstruction with a Four-Branch Dacron Graft for Middle Aortic Syndrome Secondary to Takayasu's Arteritis. 61
32534020 2020
4
The importance of FDG PET/CT in the diagnostic process of the middle aortic syndrome in a 15-year-old boy patient with suspected systemic vasculitis and final diagnosis of Williams-Beuren syndrome. 61
32239321 2020
5
A Review of Middle Aortic Syndromes in Pediatric Patients. 61
31412980 2020
6
Surgical management of middle aortic syndrome in an adult. 61
32072084 2020
7
Calcific Plug Obstructing the Thoracic Aorta. 61
32599631 2020
8
Winslow pathway collaterals: an unusual arterial network in Takayasu arteritis. 61
32936107 2020
9
A Unique Case of Middle Aorta Syndrome With a "Corkscrew" Descending Aorta. 61
31701825 2019
10
Middle Aortic Syndrome in a Child-Bearing Age Patient. 61
31614378 2019
11
Diagnosis and differential diagnosis of large-vessel vasculitides. 61
30221327 2019
12
Doppler ultrasonographic and clinical features of middle aortic syndrome. 61
30318593 2019
13
A Case Report of Takayasu's Arteritis and Ulcerative Colitis in a Pediatric Patient with Chronic Recurrent Multifocal Osteomyelitis Successfully Treated with Infliximab: Diagnostic Clues in Disease Associations and Immune Dysregulation. 61
31285932 2019
14
Total arch replacement for aortic arch aneurysm with coexisting middle aortic syndrome. 61
30544040 2019
15
Middle aortic syndrome because of pediatric Takayasu arteritis admitted as acute heart failure: clinical course and therapeutic strategies. 61
30234753 2018
16
Contribution of imaging modalities in the diagnosis of middle aortic syndrome. 61
30190650 2018
17
The fate of a thoracoabdominal aortic bypass graft 10 years after surgery in a child with the middle aortic syndrome. 61
32082783 2018
18
Management and Outcomes of Childhood Renal Artery Stenosis and Middle Aortic Syndrome. 61
29373648 2018
19
Interventions in children with renovascular hypertension: A 27-year retrospective single-center experience. 61
29635838 2018
20
Stenting for middle aortic syndrome caused by Takayasu arteritis-immediate and long-term outcomes. 61
29359504 2018
21
Paediatric middle aortic syndrome with endovascular treatment in East Malaysia. 61
29531207 2018
22
Endovascular Management of Middle Aortic Syndrome Presenting with Uncontrolled Hypertension. 61
30510836 2018
23
Rare complications of neurofibromatosis 1 diagnosed incidentally in two children. 61
30214218 2018
24
Cardiovascular Structure and Function in Children With Middle Aortic Syndrome and Renal Artery Stenosis. 61
28974566 2017
25
Repeat presentation for middle aortic syndrome 18 years after original repair. 61
29169543 2017
26
Middle aortic syndrome with renal artery stenosis. 61
29423162 2017
27
Takayasu arteritis with middle aortic syndrome and mesenteric ischemia treated by aortic stenting. 61
29349411 2017
28
A rare cause of cardiomyopathy in an infant: middle aortic syndrome. 61
27839529 2017
29
Successful surgical treatment of a subtotal descending aortic occlusion. 61
28470326 2017
30
Case report of a rarely seen long-segment middle aortic syndrome. 61
28424443 2017
31
Thoracic Endovascular Stent Graft Repair of Middle Aortic Syndrome. 61
27549552 2016
32
Unlikely culprit: congenital middle aortic syndrome diagnosed in the sixth decade of life. 61
27530881 2016
33
Middle Aortic Syndrome in Takayasu's Arteritis: Report of Two Surgical Cases. 61
27174347 2016
34
Middle Aortic Syndrome Treated by Implantation of an Advanta V12 Large Diameter Stent. 61
26815649 2016
35
Middle Aortic Syndrome: Imaging and Endovascular Treatment. 61
26664320 2015
36
Surgical treatment of middle aortic syndrome due to Takayasu arteritis. 61
26304483 2015
37
Surgical treatment of middle aortic syndrome with Takayasu arteritis or midaortic dysplastic syndrome. 61
26092621 2015
38
Middle aortic syndrome--an 8-year story of pills, pretty balloons and struts. 61
25953247 2015
39
Disease Beyond the Arch: A Systematic Review of Middle Aortic Syndrome in Childhood. 61
25631383 2015
40
Repair of aortoenteric fistula secondary to graft placement for middle aortic syndrome. 61
25596405 2015
41
Single-site laparoscopic colectomy for rectosigmoid cancer with middle aortic syndrome: report of a case. 61
26366350 2015
42
Duplex ultrasound findings before and after surgery in children and adolescents with renovascular hypertension. 61
25308948 2014
43
Middle aortic syndrome in a teenager. 61
26388599 2014
44
Descending aorta-external iliac artery bypass for middle aortic syndrome. 61
24275906 2014
45
Severe reversible dilated cardiomyopathy associated with a large left ventricular thrombus in a young child with middle aortic syndrome. 61
26236372 2014
46
Middle aortic coarctation. 61
24361384 2014
47
Aortic stent and renal autotransplantation for the management of renovascular hypertension with Takayasu's arteritis: report of a case. 61
23512530 2014
48
Mid-aortic syndrome presenting with unusual stenoses. 61
24977344 2014
49
Successful treatment of a patient with middle aortic syndrome and renovisceral involvement using aorto-aortic bypass: case report and review of recent literature. 61
24184465 2014
50
Early and long-term results after reconstructive surgery in 42 children and two young adults with renovascular hypertension due to fibromuscular dysplasia and middle aortic syndrome. 61
24583096 2014

Variations for Atypical Coarctation of Aorta

ClinVar genetic disease variations for Atypical Coarctation of Aorta:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF213 NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) SNV Likely pathogenic 684683 rs768740459 17:78317111-78317111 17:80343311-80343311
2 GATA6 NM_005257.5(GATA6):c.1532C>G (p.Ser511Cys) SNV Likely pathogenic 684684 rs1598738032 18:19762916-19762916 18:22182955-22182955
3 NF1 NM_000267.3(NF1):c.1260+5G>A SNV Likely pathogenic 641476 rs1060500253 17:29528508-29528508 17:31201490-31201490
4 NF1 NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) SNV Likely pathogenic 68323 rs199474747 17:29556173-29556173 17:31229155-31229155
5 NF1 NM_000267.3(NF1):c.5164G>C (p.Ala1722Pro) SNV Likely pathogenic 237573 rs878853900 17:29653229-29653229 17:31326211-31326211
6 JAG1 NM_000214.3(JAG1):c.439+1G>A SNV Likely pathogenic 213529 rs863223648 20:10644610-10644610 20:10663962-10663962
7 JAG1 NM_000214.3(JAG1):c.1313G>A (p.Cys438Tyr) SNV Likely pathogenic 684681 rs1600184363 20:10630205-10630205 20:10649557-10649557
8 JAG1 NM_000214.3(JAG1):c.2092_2093insG (p.Lys698fs) Insertion Likely pathogenic 684682 rs1600181733 20:10626024-10626025 20:10645376-10645377
9 JAG1 NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) SNV Likely pathogenic 213539 rs1555827789 20:10622326-10622326 20:10641678-10641678
10 NF1 NM_000267.3(NF1):c.4514+1G>A SNV Likely pathogenic 439997 rs1279529138 17:29587534-29587534 17:31260516-31260516
11 NF1 NM_000267.3(NF1):c.1166A>G (p.His389Arg) SNV Likely pathogenic 141982 rs149739570 17:29528158-29528158 17:31201140-31201140

Expression for Atypical Coarctation of Aorta

Search GEO for disease gene expression data for Atypical Coarctation of Aorta.

Pathways for Atypical Coarctation of Aorta

GO Terms for Atypical Coarctation of Aorta

Biological processes related to Atypical Coarctation of Aorta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.26 RNF213 JAG1
2 negative regulation of cell migration GO:0030336 9.16 NF1 JAG1
3 liver development GO:0001889 8.96 NF1 GATA6
4 cell communication GO:0007154 8.62 NF1 JAG1

Sources for Atypical Coarctation of Aorta

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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