MCID: CRC039
MIFTS: 47

Coarctation of Aorta

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Coarctation of Aorta

MalaCards integrated aliases for Coarctation of Aorta:

Name: Coarctation of Aorta 56 29 6 32
Aortic Coarctation 52 17
Coarctation of the Aorta 52
Aorta, Coarctation 39
Aorta Coarctation 58

Characteristics:

Orphanet epidemiological data:

58
aorta coarctation
Prevalence: 1-5/10000 (Europe),6-9/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-9/100000 (Poland),1-9/100000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
? autosomal dominant
most likely multifactorial


HPO:

31

Classifications:

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


External Ids:

OMIM 56 120000
ICD10 32 Q25.1
MESH via Orphanet 44 C531623 D001017
ICD10 via Orphanet 33 Q25.1
UMLS via Orphanet 72 C0003492 C2930803
Orphanet 58 ORPHA1457
MedGen 41 C0003492

Summaries for Coarctation of Aorta

MalaCards based summary : Coarctation of Aorta, also known as aortic coarctation, is related to atypical coarctation of aorta and cardiac septal defects with coarctation of the aorta. An important gene associated with Coarctation of Aorta is OBSL1 (Obscurin Like Cytoskeletal Adaptor 1). The drugs Lidocaine and Magnesium Sulfate have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and endothelial, and related phenotypes are coarctation of the descending aortic arch and abnormal left ventricular outflow tract morphology

Wikipedia : 74 Coarctation of the aorta (CoA or CoAo), also called aortic narrowing, is a congenital condition whereby... more...

More information from OMIM: 120000

Related Diseases for Coarctation of Aorta

Diseases in the Coarctation of Aorta family:

Autosomal Dominant Coarctation of Aorta

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

(show top 50) (show all 408)
# Related Disease Score Top Affiliating Genes
1 atypical coarctation of aorta 12.7
2 cardiac septal defects with coarctation of the aorta 12.7
3 autosomal dominant coarctation of aorta 12.6
4 congenital heart defects, hamartomas of tongue, and polysyndactyly 11.8
5 phace association 11.7
6 chondrodysplasia, blomstrand type 11.4
7 warfarin syndrome 11.4
8 cardiac, facial, and digital anomalies with developmental delay 11.4
9 congenital heart defects, multiple types, 4 11.3
10 aortic valve disease 2 10.9
11 ventricular septal defect 10.6
12 heart septal defect 10.6
13 aneurysm 10.6
14 patent ductus arteriosus 1 10.5
15 aortic valve disease 1 10.5
16 cerebral aneurysms 10.4
17 gonadal dysgenesis 10.4
18 vascular disease 10.4
19 aortic dissection 10.3
20 congestive heart failure 10.3
21 paraplegia 10.3
22 pulmonary valve stenosis 10.3
23 aortic aneurysm 10.3
24 aortic arch interruption 10.3
25 neurofibromatosis 10.3
26 congenital mitral stenosis 10.3
27 cardiac arrest 10.3
28 subvalvular aortic stenosis 10.3
29 turner syndrome 10.3
30 double discordia 10.2
31 hypertrophic cardiomyopathy 10.2
32 pulmonary hypertension 10.2
33 infective endocarditis 10.2
34 endocarditis 10.2
35 intracranial aneurysm 10.2
36 mitral valve insufficiency 10.2
37 fibromuscular dysplasia 10.2
38 ventricular fibrillation, paroxysmal familial, 1 10.2
39 limb ischemia 10.2
40 pericardial effusion 10.2
41 dilated cardiomyopathy 10.2
42 retinal vascular disease 10.2
43 kidney disease 10.2
44 cardiogenic shock 10.2
45 aplasia cutis congenita, nonsyndromic 10.2
46 hypertelorism 10.2
47 marfan syndrome 10.2
48 wolff-parkinson-white syndrome 10.2
49 esophageal atresia 10.2
50 arteriovenous malformation 10.2

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



Diseases related to Coarctation of Aorta

Symptoms & Phenotypes for Coarctation of Aorta

Human phenotypes related to Coarctation of Aorta:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarctation of the descending aortic arch 58 31 obligate (100%) Obligate (100%) HP:0012305
2 abnormal left ventricular outflow tract morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011103
3 cardiomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001640
4 bicuspid aortic valve 58 31 frequent (33%) Frequent (79-30%) HP:0001647
5 hypoplastic left heart 58 31 frequent (33%) Frequent (79-30%) HP:0004383
6 coronary artery atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0001677
7 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
8 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
9 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
10 hypoplastic aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0012304
11 persistent left superior vena cava 58 31 occasional (7.5%) Occasional (29-5%) HP:0005301
12 perimembranous ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0011682
13 pulmonary arterial hypertension 58 31 very rare (1%) Very rare (<4-1%) HP:0002092
14 tetralogy of fallot 58 31 very rare (1%) Very rare (<4-1%) HP:0001636
15 stroke 58 31 very rare (1%) Very rare (<4-1%) HP:0001297
16 aortic valve atresia 58 31 very rare (1%) Very rare (<4-1%) HP:0010883
17 coarctation of aorta 31 HP:0001680
18 interrupted aortic arch 58 Excluded (0%)
19 pseudocoarctation of the aorta 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
coarctation of aorta
hypoplastic left heart
congenital heart defect
narrow aortic isthmus

Clinical features from OMIM:

120000

Drugs & Therapeutics for Coarctation of Aorta

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

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
8
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
9
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
10
Racepinephrine Approved Phase 4 329-65-7 838
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Atorvastatin Approved Phase 4 134523-00-5 60823
13
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
14
Simendan Investigational Phase 4 131741-08-7
15 retinol Phase 4
16 Retinol palmitate Phase 4
17 Cardiotonic Agents Phase 4
18 Phosphodiesterase Inhibitors Phase 4
19 Phosphodiesterase 3 Inhibitors Phase 4
20 Anti-Arrhythmia Agents Phase 4
21 Protective Agents Phase 4
22 Anticonvulsants Phase 4
23 Anesthetics Phase 4
24 Pharmaceutical Solutions Phase 4
25 Analgesics, Opioid Phase 4
26 Anesthetics, Local Phase 4
27 Excitatory Amino Acid Antagonists Phase 4
28 Hypnotics and Sedatives Phase 4
29 Anesthetics, Dissociative Phase 4
30 Narcotics Phase 4
31 Anesthetics, General Phase 4
32 Epinephryl borate Phase 4
33 Platelet Aggregation Inhibitors Phase 4
34 Anesthetics, Intravenous Phase 4
35 Neuromuscular Blocking Agents Phase 4
36 Anesthetics, Inhalation Phase 4
37 Hypolipidemic Agents Phase 4
38 Anticholesteremic Agents Phase 4
39 Lipid Regulating Agents Phase 4
40 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
41 Antimetabolites Phase 4
42
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
43
Nitroprusside Approved, Investigational Phase 2 15078-28-1 11963622
44
Nitric Oxide Approved Phase 2 10102-43-9 145068
45
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
46 Sodium Potassium Chloride Symporter Inhibitors Phase 2
47 diuretics Phase 2
48
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
49
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
50 Antineoplastic Agents, Hormonal Phase 1

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Analgesic Efficacy of Ultrasound Guided Erector Spinae Plane Block Versus Fentanyl Infusion in Pediatric Patients Undergoing Aortic Coarcitectomy. a Randomized Controlled Study. Recruiting NCT04128540 Phase 4 Fentanyl
2 The Effect of Levosimendan Versus Its Combination to Magnesium Sulphate on Spinal Cord Protection Guided by NIRS in Infants Undergoing Coarctectomy: A Randomized Controlled Study. Not yet recruiting NCT04330755 Phase 4 Saline Solution;Levosimendan;Magnesium Sulfate
3 Paravertebral Nerve Blocks in Neonates and Infants Undergoing Repair of Aortic Coarctation, A Pilot Study Suspended NCT03408340 Phase 4 Standard of Care Anesthesia
4 Effects of Statins on Endothelial Function in Patients With Coarctation of the Aorta Terminated NCT00767572 Phase 4 atorvastatin;Sugar pill
5 Covered Cheatham Platinum Stents for the Prevention or Treatment of Aortic Wall Injury Associated With Coarctation of the Aorta Completed NCT01278303 Phase 2
6 Furosemide: Would it Help to Improve the Lungs During Aortic Coarctation Surgery Completed NCT03364842 Phase 2 Furosemide
7 Effect of Strategy for Blood Pressure Control on Cerebral Oxygen Balance During Aortic Coarctation Repair: a Randomized Study Completed NCT00535808 Phase 2 nitroprusside;nitroglycerine;sevoflurane
8 Treatment Targets for Chronic Hypertension in Pregnancy Withdrawn NCT00194974 Phase 1, Phase 2 methyldopa;labetalol;nifedipine;clonidine
9 Paravertebral Block in Coarctation of the Aorta Completed NCT03074773 Phase 1 Dexamethasone;Bupivacaine
10 Real-Time MRI-Guided Percutaneous Intervention for Aorto-illac and Femoropopliteal, Artery Stenosis Completed NCT00094783 Phase 1
11 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
12 LOVE-COARCT Study: Long-term Outcomes and Vascular Evaluation After Coarctation of the Aorta Treatment Unknown status NCT03262753
13 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
14 Cardiac Catheterization in the Management of Pediatric Cardiac Patients at Assiut University Children Hospital ( A Descriptive Study) Unknown status NCT03398187
15 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Unknown status NCT02917980
16 The Prevalence and the Prognosis of Resistant Hypertension Ascertained With Systemic Investigation and Optimal Treatment With Antihypertensive Drugs Unknown status NCT01703780
17 Comparison of Ringer Lactate and Isotonic Acetate Solution as Maintenance Fluids in Children Undergoing Elective Laparoscopic Surgery Unknown status NCT02936167
18 Coarctation Of the Aorta Stent Trial Completed NCT00552812
19 Antenatal Diagnosis of Coarctations of the Aorta. Prospective Observational Study. Completed NCT03303768
20 Large Diameter Advanta™ V12 Covered Stent Trial for Coarctation of the Aorta Completed NCT00978952
21 Evaluation of Image-Based Modelling on Clinical Decisions in Coarctation of the Aorta Completed NCT02700737
22 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
23 Carotid Atherosclerosis in Patients With Aortic Coarctation Completed NCT03999073
24 A Pilot Study of Thrombin Generation Changes in Neonates Undergoing Placement of a Blalock-Taussig Shunt Completed NCT01340378
25 Evaluation of Vascular Pathology With 3D, Time-Resolved Phase Contrast MRI Completed NCT00722904
26 MRI Assessment of Two Congenital Heart Disease States: Assessment of Right Ventricular Function: Predictor of Optimal Timing of Pulmonary Valve Replacement in Patients With TOF; Assessment of Flow Dynamics in Patients With Aortic Coarctation Completed NCT00277901
27 Bupropion and Cardiac Birth Defects (Slone Epidemiology Center) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
28 SPY Imaging System: Its Role in Pediatric Cardiac Surgery Completed NCT00446927
29 Balloon Valvuloplasty Registry Completed NCT00005199
30 Randomized Controlled Trial on Deep Hypothermic Circulatory Arrest Versus Antegrade Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
31 Hemangioma Associated With High Rates of Morbidity:A Prospective Study Completed NCT00394888
32 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome Completed NCT01018082
33 Does the Choice of Perioperative Inotropes Has Influence on the Morbidity and Mortality of Infants Operated for Complex Heart Defects? Completed NCT04380181 dobu
34 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
35 Hemodynamic Assessment With Trans-esophageal Doppler (TED) During Prone Ventilation in Patients With Acute Respiratory Distress Syndrome (ARDS) Completed NCT02664090
36 Clinical Assessment of Perfusion Techniques During Surgical Repair of Coarctation of Aorta With Aortic Arch Hypoplasia in Infants Recruiting NCT02835703
37 Prognosis and Integrative Assessment of Aortic Coarctation Patients in CHINA Recruiting NCT04011956
38 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Recruiting NCT03147014
39 UTHealth Turner Syndrome Research Registry Recruiting NCT03185702
40 Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies). Recruiting NCT01016756
41 Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease? Recruiting NCT04106479
42 Evaluation of Aortic Stiffness as a Prognostic Indicator of Aortic Dilatation in Patients With Bicuspid Aortic Valve (BAV) by Multimodal Imaging (MRI, Echocardiography and Ultrafast Ultrasound Imaging) Recruiting NCT03474159
43 Haemodynamics and Function of the Atria in Patients With Congenital Heart Defects - Pilot Study by Cardiovascular Magnetic Resonance Active, not recruiting NCT02161471
44 Cardiac Remodeling and Circulating Biomarkers in Pediatric Left Ventricular Pressure Loading Lesions Active, not recruiting NCT02545790
45 Serum Androgen Levels as a Marker for the Severity of Preeclampsia Active, not recruiting NCT03744988
46 The Canadian Registry for Adults With Congenital Heart Disease Interventions Not yet recruiting NCT04288596
47 Spanish Percutaneous Aortic INtervention REGISTRY (SPAIN REGISTRY) Not yet recruiting NCT04307888
48 Staged Approach to Coarctation and VSD Can Offer Optimal Outcomes Terminated NCT00327795
49 Neoaortic Elastic Properties After Aortic Arch Reconstruction Terminated NCT00277940
50 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005

Search NIH Clinical Center for Coarctation of Aorta

Genetic Tests for Coarctation of Aorta

Genetic tests related to Coarctation of Aorta:

# Genetic test Affiliating Genes
1 Coarctation of Aorta 29

Anatomical Context for Coarctation of Aorta

MalaCards organs/tissues related to Coarctation of Aorta:

40
Heart, Kidney, Endothelial, Brain, Spinal Cord, Lung, Testes

Publications for Coarctation of Aorta

Articles related to Coarctation of Aorta:

(show top 50) (show all 3885)
# Title Authors PMID Year
1
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. 56
15690347 2005
2
Autosomal dominant inheritance of left ventricular outflow tract obstruction. 56
15712195 2005
3
Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries. 56
14708093 2004
4
Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations. 56
8487284 1993
5
Coarctation of the aorta inherited as an autosomal dominant trait. 56
4061317 1985
6
A family study of coarctation of the aorta. 56
1018301 1976
7
Coarctation of the aorta in father and son. 56
13900806 1961
8
Device deformation and left pulmonary artery obstruction after transcatheter patent ductus arteriosus closure in preterm infants. 61
32143922 2020
9
A Case Series Describing Percutaneous Management of Aortic Isthmic Atresia. 61
32338186 2020
10
Epinephrine stress testing during cardiac catheterization in patients with aortic coarctation. 61
32474207 2020
11
Patient-specific three-dimensional aortic arch modeling for automatic measurements: clinical validation in aortic coarctation. 61
32332378 2020
12
Double Choker: Double Aortic Arch with Bilateral Aortic Coarctation Associated with Heterotaxy-Asplenia Syndrome and Complex Atrioventricular Canal Defect. 61
32577594 2020
13
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect. 61
32319738 2020
14
AICA-ribosiduria due to ATIC deficiency: delineation of the phenotype with three novel cases, and long-term update on the first case. 61
32557644 2020
15
Overexpression of FNTB and the activation of Ras induce hypertrophy and promote apoptosis and autophagic cell death in cardiomyocytes. 61
32579303 2020
16
Characteristics and progression of hearing loss in children with turner's syndrome. 61
31487054 2020
17
Why are congenital heart defects being missed? 61
31131945 2020
18
Heart transplantation in an infant with Williams-Beuren syndrome and rapidly progressive ischemic cardiomyopathy. 61
32112495 2020
19
Simultaneous aortic valve endocarditis and mycotic pseudoaneurysm of aortic coarctation. 61
32557775 2020
20
Outcomes of aortic coarctation surgical repair in adolescents and adults. 61
32221581 2020
21
Increased prevalence of left ventricular diastolic dysfunction in adults with repaired coarctation of aorta. 61
32462075 2020
22
How often is coarctation of aorta correctly diagnosed antemortem in children with fatal illnesses? A retrospective review of medical and autopsy records. 61
32503956 2020
23
A case of AndraStent® fracture in a patient with aortic coarctation: a review of the literature. 61
32513327 2020
24
Axillofemoral bypass to improve congestive heart failure for atypical aortic coarctation complicating Takayasu arteritis. 61
32558325 2020
25
Electro-Cut Assisted Crossing Technique for Noncrossable Extreme Aortic Coarctation: First-in-Man. 61
32305396 2020
26
Transcatheter Intervention For Severe Aortic Coarctation in a Patient With Uninterrupted Left-Sided Inferior Vena Cava Presenting With Recurrent Abdominal Pain. 61
32455092 2020
27
Coarctatio aortae: management from infancy to adulthood. 61
32427570 2020
28
Applications of Pediatric Body CT Angiography: What Radiologists Need to Know. 61
32130044 2020
29
Determination of anomalous pulmonary venous return with high-pitch low-dose computed tomography in pediatric patients. 61
32459365 2020
30
A case of giant main pulmonary artery aneurysm associated with complicated congenital heart disease and simultaneous chronic pulmonary artery dissection. 61
32398043 2020
31
Surgical correction of coarctation of the aorta featuring an incomplete circle of Willis. 61
32243523 2020
32
Clinical Assessment of Perfusion Techniques During Surgical Repair of Coarctation of Aorta With Aortic Arch Hypoplasia in Neonates: A Pilot Prospective Randomized Study. 61
32446921 2020
33
Management of adults with coarctation of aorta. 61
32547712 2020
34
Adquired coarctation of aorta: Coral reef aorta. 61
32386996 2020
35
Morphometric evaluation of aortic coarctation and collateral circulation using computed tomography in the adult population. 61
31581781 2020
36
One-step percutaneous procedure to treat an aortic coarctation and aortic stenosis. 61
31451431 2020
37
Incidence and fate of device-related left pulmonary artery stenosis and aortic coarctation in small infants undergoing transcatheter patent ductus arteriosus closure. 61
32339400 2020
38
Surgical Management of Pediatric renin-mediated Hypertension seCONDARY TO RENAL ARTERY OCCLUSIVE DISEASE AND ABDOMINAL AORTIC COARCTATION. 61
32276020 2020
39
The Author's Contributions to Echocardiography Literature (Part I-1978-1990) †. 61
32290258 2020
40
Preeclampsia as predisposing factor for hypertensive retinopathy: Participation by the RAAS and angiogenic factors. 61
32088240 2020
41
Histologic and morphologic character of pediatric renal artery occlusive disease. 61
32276022 2020
42
Traumatic type A aortic dissection mimicking as coarctation of aorta: assessment by echocardiography and computed tomography. 61
32346845 2020
43
Potential Benefits of Ambulatory Blood Pressure Monitoring in Coarctation of Aorta. 61
32327108 2020
44
Response by Egbe to Letter Regarding Article "Doppler-Derived Arterial Load Indices Better Reflect Left Ventricular Afterload Than Systolic Blood Pressure in Coarctation of Aorta". 61
32295396 2020
45
Letter by Quail and Muthurangu Regarding Article, "Doppler-Derived Arterial Load Indices Better Reflect Left Ventricular Afterload Than Systolic Blood Pressure in Coarctation of Aorta". 61
32295397 2020
46
Neonatal management of aortic coarctation with ventricular septal defect: a systematic review and meta-analysis. 61
32352247 2020
47
Feasibility and early outcomes of aortic coarctation treatments with BeGraft Aortic stent. 61
32299151 2020
48
Increased risk of intraventricular hemorrhage in low birth weight infants with aortic coarctation. 61
30149745 2020
49
Right Ventricular Strain Impairment in Adults and Adolescents with Repaired Aortic Coarctation. 61
32095852 2020
50
PHACE Syndrome: A Rare Case. 61
31976140 2020

Variations for Coarctation of Aorta

ClinVar genetic disease variations for Coarctation of Aorta:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(1;5)(p35.3;q31.3)dnTranslocation Pathogenic 267817
2 46;XY;t(2;14)(p22;q24.3)dnTranslocation Likely pathogenic 268037
3 LRRC38 , PDPN GRCh37/hg19 1p36.21(chr1:13801823-14012604)copy number gain Uncertain significance 523268 1:13801823-14012604
4 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)SNV Uncertain significance 598982 rs560246798 2:220423067-220423067 2:219558345-219558345
5 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)SNV Uncertain significance 598981 rs749541061 2:220424193-220424193 2:219559471-219559471
6 RYR1 NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)SNV Uncertain significance 133221 rs193922829 19:38995701-38995701 19:38505061-38505061

Expression for Coarctation of Aorta

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

Pathways for Coarctation of Aorta

GO Terms for Coarctation of Aorta

Cellular components related to Coarctation of Aorta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 RYR1 OBSL1

Sources for Coarctation of Aorta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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