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 Epinephrine and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, 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 412)
# 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 ventricular septal defect 10.6
10 heart septal defect 10.6
11 aneurysm 10.6
12 patent ductus arteriosus 1 10.5
13 aortic valve disease 1 10.5
14 cerebral aneurysms 10.4
15 gonadal dysgenesis 10.4
16 vascular disease 10.4
17 congestive heart failure 10.3
18 paraplegia 10.3
19 pulmonary valve stenosis 10.3
20 aortic aneurysm 10.3
21 aortic arch interruption 10.3
22 congenital mitral stenosis 10.3
23 subvalvular aortic stenosis 10.3
24 neurofibromatosis, type iv, of riccardi 10.3
25 turner syndrome 10.3
26 hypertrophic cardiomyopathy 10.2
27 thrombosis 10.2
28 double discordia 10.2
29 pulmonary hypertension 10.2
30 cardiac arrest 10.2
31 endocarditis 10.2
32 intracranial aneurysm 10.2
33 mitral valve insufficiency 10.2
34 fibromuscular dysplasia 10.2
35 ventricular fibrillation, paroxysmal familial, 1 10.2
36 limb ischemia 10.2
37 pericardial effusion 10.2
38 dilated cardiomyopathy 10.2
39 retinal vascular disease 10.2
40 kidney disease 10.2
41 cardiogenic shock 10.2
42 aplasia cutis congenita, nonsyndromic 10.2
43 hypertelorism 10.2
44 marfan syndrome 10.2
45 wolff-parkinson-white syndrome 10.2
46 esophageal atresia 10.2
47 arteriovenous malformation 10.2
48 diaphragmatic hernia, congenital 10.1
49 hypertension, essential 10.1
50 williams-beuren syndrome 10.1

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 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
8 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
9 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
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 93)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
7
Racepinephrine Approved Phase 4 329-65-7 838
8
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11
Atorvastatin Approved Phase 4 134523-00-5 60823
12
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
13 Anesthetics, Local Phase 4
14 Epinephryl borate Phase 4
15 Platelet Aggregation Inhibitors Phase 4
16 Anesthetics, Dissociative Phase 4
17 Neuromuscular Agents Phase 4
18 Hypnotics and Sedatives Phase 4
19 Anesthetics, Inhalation Phase 4
20 Neuromuscular Nondepolarizing Agents Phase 4
21 Excitatory Amino Acid Antagonists Phase 4
22 Neuromuscular Blocking Agents Phase 4
23 Excitatory Amino Acids Phase 4
24 Anesthetics Phase 4
25 Analgesics, Opioid Phase 4
26 Pharmaceutical Solutions Phase 4
27 Central Nervous System Depressants Phase 4
28 Narcotics Phase 4
29 Anesthetics, General Phase 4
30 Adjuvants, Anesthesia Phase 4
31 Anesthetics, Intravenous Phase 4
32 retinol Phase 4
33 Retinol palmitate Phase 4
34 Hypolipidemic Agents Phase 4
35 Anticholesteremic Agents Phase 4
36 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
37 Lipid Regulating Agents Phase 4
38 Antimetabolites Phase 4
39
Furosemide Approved, Vet_approved Phase 2 54-31-9 3440
40
Nitroprusside Approved, Investigational Phase 2 15078-28-1 11963622
41
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
42
Nitric Oxide Approved Phase 2 10102-43-9 145068
43 Natriuretic Agents Phase 2
44 Sodium Potassium Chloride Symporter Inhibitors Phase 2
45 diuretics Phase 2
46 Nitric Oxide Donors Phase 2
47
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
48
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
49 Antiemetics Phase 1
50 Gastrointestinal Agents Phase 1

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 Paravertebral Nerve Blocks in Neonates and Infants Undergoing Repair of Aortic Coarctation, A Pilot Study Recruiting NCT03408340 Phase 4 Standard of Care Anesthesia
2 Analgesic Efficacy of Ultrasound Guided Erector Spinae Plane Block Versus Fentanyl Infusion in Pediatric Patients Undergoing Aortic Coarcitectomy. a Randomized Controlled Study. Not yet recruiting NCT04128540 Phase 4 Fentanyl
3 Effects of Statins on Endothelial Function in Patients With Coarctation of the Aorta Terminated NCT00767572 Phase 4 atorvastatin;Sugar pill
4 Covered Cheatham Platinum Stents for the Prevention or Treatment of Aortic Wall Injury Associated With Coarctation of the Aorta Completed NCT01278303 Phase 2
5 Furosemide: Would it Help to Improve the Lungs During Aortic Coarctation Surgery Completed NCT03364842 Phase 2 Furosemide
6 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
7 Treatment Targets for Chronic Hypertension in Pregnancy Withdrawn NCT00194974 Phase 1, Phase 2 methyldopa;labetalol;nifedipine;clonidine
8 Paravertebral Block in Coarctation of the Aorta Completed NCT03074773 Phase 1 Dexamethasone;Bupivacaine
9 Real-Time MRI-Guided Percutaneous Intervention for Aorto-illac and Femoropopliteal, Artery Stenosis Completed NCT00094783 Phase 1
10 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
11 LOVE-COARCT Study: Long-term Outcomes and Vascular Evaluation After Coarctation of the Aorta Treatment Unknown status NCT03262753
12 Proof of Concept of Model Based Cardiovascular Prediction Unknown status NCT02591940
13 The Prevalence and the Prognosis of Resistant Hypertension Ascertained With Systemic Investigation and Optimal Treatment With Antihypertensive Drugs Unknown status NCT01703780
14 Comparison of Ringer Lactate and Isotonic Acetate Solution as Maintenance Fluids in Children Undergoing Elective Laparoscopic Surgery Unknown status NCT02936167
15 Coarctation Of the Aorta Stent Trial Completed NCT00552812
16 Antenatal Diagnosis of Coarctations of the Aorta. Prospective Observational Study. Completed NCT03303768
17 Large Diameter Advanta™ V12 Covered Stent Trial for Coarctation of the Aorta Completed NCT00978952
18 Evaluation of Image-Based Modelling on Clinical Decisions in Coarctation of the Aorta Completed NCT02700737
19 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
20 Carotid Atherosclerosis in Patients With Aortic Coarctation Completed NCT03999073
21 A Pilot Study of Thrombin Generation Changes in Neonates Undergoing Placement of a Blalock-Taussig Shunt Completed NCT01340378
22 Evaluation of Vascular Pathology With 3D, Time-Resolved Phase Contrast MRI Completed NCT00722904
23 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
24 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
25 SPY Imaging System: Its Role in Pediatric Cardiac Surgery Completed NCT00446927
26 Balloon Valvuloplasty Registry Completed NCT00005199
27 Randomized Controlled Trial on Deep Hypothermic Circulatory Arrest Versus Antegrade Cerebral Perfusion During Neonatal Cardiac Surgery Completed NCT01032876
28 Hemangioma Associated With High Rates of Morbidity:A Prospective Study Completed NCT00394888
29 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome Completed NCT01018082
30 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
31 Hemodynamic Assessment With Trans-esophageal Doppler (TED) During Prone Ventilation in Patients With Acute Respiratory Distress Syndrome (ARDS) Completed NCT02664090
32 Clinical Assessment of Perfusion Techniques During Surgical Repair of Coarctation of Aorta With Aortic Arch Hypoplasia in Infants Recruiting NCT02835703
33 Prognosis and Integrative Assessment of Aortic Coarctation Patients in CHINA Recruiting NCT04011956
34 Cardiovascular Response to Maternal Hyperoxygenation in Fetal Congenital Heart Disease Recruiting NCT03147014
35 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Recruiting NCT02917980
36 UTHealth Turner Syndrome Research Registry Recruiting NCT03185702
37 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
38 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
39 Haemodynamics and Function of the Atria in Patients With Congenital Heart Defects - Pilot Study by Cardiovascular Magnetic Resonance Active, not recruiting NCT02161471
40 Cardiac Remodeling and Circulating Biomarkers in Pediatric Left Ventricular Pressure Loading Lesions Active, not recruiting NCT02545790
41 Serum Androgen Levels as a Marker for the Severity of Preeclampsia Active, not recruiting NCT03744988
42 Cardiac Catheterization in the Management of Pediatric Cardiac Patients at Assiut University Children Hospital ( A Descriptive Study) Not yet recruiting NCT03398187
43 Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease? Not yet recruiting NCT04106479
44 Staged Approach to Coarctation and VSD Can Offer Optimal Outcomes Terminated NCT00327795
45 Neoaortic Elastic Properties After Aortic Arch Reconstruction Terminated NCT00277940
46 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, Brain, Endothelial, Lung, Spinal Cord, Testes

Publications for Coarctation of Aorta

Articles related to Coarctation of Aorta:

(show top 50) (show all 3828)
# Title Authors PMID Year
1
Autosomal dominant inheritance of left ventricular outflow tract obstruction. 56
15712195 2005
2
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. 56
15690347 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
PHACE Syndrome: A Rare Case. 61
31976140 2020
9
Use of 3D rotational angiography to perform computational fluid dynamics and virtual interventions in aortic coarctation. 61
31609061 2020
10
Beating heart thoracic aortic surgery under selective myocardial perfusion for patients with congenital aortic anomalies. 61
32034678 2020
11
[Coarctation of aorta in a neonate? It is not always what it seems: an illustrative case]. 61
31984714 2020
12
Unusual late presentation of coarctation of aorta with right subclavian artery aneurysm. 61
32029520 2020
13
Subject-specific simulation for non-invasive assessment of aortic coarctation: Towards a translational approach. 61
31926831 2020
14
Electrification of a Guidewire to Assist in Crossing an Aortic Coarctation (The BEACON Technique). 61
31699361 2020
15
Early cardiac remodeling in aortic coarctation: insights from fetal and neonatal functional and structural assessment. 61
31909552 2020
16
MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations. 61
31957131 2020
17
[Successful emergency hybrid treatment for aortic rupture in a pregnant patient with congenital aortic coarctation]. 61
32008300 2020
18
Balloon angioplasty of aortic coarctation in critically ill newborns using axillary artery access. 61
32030037 2020
19
Recurrent coarctation in Williams syndrome: novel approach of drug-eluting stent implantation. 61
31941559 2020
20
Transcatheter closure of elongated and pulmonary hypertensive patent arterial duct in infants using Amplatzer vascular plug II. 61
31996273 2020
21
Transposition of great arteries with coarctation of aorta: a rare association demonstrated on dual source CT. 61
31996096 2020
22
Structured Reporting in Cross-Sectional Imaging of the Heart: Reporting Templates for CMR Imaging of Cardiomyopathies (Myocarditis, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy and Siderosis). 61
31597176 2020
23
Differences in Aortopathy in Patients with a Bicuspid Aortic Valve with or without Aortic Coarctation. 61
31972995 2020
24
Aortic Coarctation a Systemic Vessel Disease-Insights from Magnetic Resonance Imaging. 61
31675756 2019
25
Unusual Presentation of Acute Systolic Heart Failure Caused by Acquired Post-Traumatic Aortic Coarctation. 61
31805781 2019
26
Pseudoaneurysm of the aortic arch early after coarctation repair in the neonatal period. 61
31840633 2019
27
Aortic elasticity after aortic coarctation relief: comparison of surgical and interventional therapy by cardiovascular magnetic resonance imaging. 61
31830907 2019
28
320-slice Computed Tomography Angiography Imaging Findings and Follow-up in A Patient with Aortic Coarctation Misdiagnosed as Hypertension: A Case Report and Literature Review. 61
32010536 2019
29
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France. 61
31870363 2019
30
Newborn girl with coarctation of the aorta and anomalous left coronary artery from pulmonary artery, with retrograde perfusion of left circumflex artery: a case report. 61
31912005 2019
31
Arterial stiffness in adult patients after coarctation of aorta repair and with bicuspid aortic valve. 61
30507296 2019
32
Ascending aortic dissection in a pregnant patient with neonatally repaired coarctation of aorta and bicuspid aortic valve. 61
31888910 2019
33
A single stage approach to ascending aortic aneurysm and coarctation: Feasibility and challenges. 61
31794129 2019
34
Incidentally detected small fistula flows in pulmonary artery by colour Doppler: echocardiographic findings and follow-up results. 61
31662133 2019
35
Surgical repair of aortic coarctation in adults: half a century of a single centre clinical experience. 61
31549166 2019
36
Mild Coarctation of Aorta is an Independent Risk Factor for Exercise-Induced Hypertension. 61
31630577 2019
37
Preoperative Physiology, Imaging, and Management of Coarctation of Aorta in Children. 61
31535945 2019
38
Anomalous left vertebral artery from descending thoracic aorta with juxtaductal coarctation of aorta. 61
31826908 2019
39
Combined General and Epidural Anesthesia for Emergency Cesarean Delivery of Twins in a Parturient With Coarctation of Aorta. 61
31920196 2019
40
Assessing a new coarctation repair simulator based on real patient's anatomy. 61
31796136 2019
41
One-stage repair of aortic coarctation and cardiac pathology via sternotomy. 61
31680534 2019
42
Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. 61
31711272 2019
43
Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly. 61
31720744 2019
44
The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene. 61
31687637 2019
45
Induction of LOX by TGF-β1/Smad/AP-1 signaling aggravates rat myocardial fibrosis and heart failure. 61
31317653 2019
46
Evolution and trends in a pediatric cardiac magnetic resonance imaging program in a tertiary hospital over a 14-year period. 61
31255319 2019
47
One-Stage Repair of Adult Aortic Coarctation and Concomitant Cardiac Diseases: Ascending to Abdominal Aorta Extra-Anatomical Bypass Combined with Cardiac Surgery. 61
30274696 2019
48
The Diastolic and Systolic Velocity-Time Integral Ratio of the Aortic Isthmus Is a Sensitive Indicator of Aortic Coarctation in Fetuses. 61
31443942 2019
49
Effects of ranolazine on cardiac function in rats with heart failure. 61
31773713 2019
50
Repaired coarctation of the aorta, persistent arterial hypertension and the selfish brain. 61
31703697 2019

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 RYR1 NM_000540.2(RYR1):c.8290G>A (p.Glu2764Lys)SNV Uncertain significance 133221 rs193922829 19:38995701-38995701 19:38505061-38505061
4 LRRC38 , PDPN GRCh37/hg19 1p36.21(chr1:13801823-14012604)copy number gain Uncertain significance 523268 1:13801823-14012604
5 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)SNV Uncertain significance 598982 rs560246798 2:220423067-220423067 2:219558345-219558345
6 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)SNV Uncertain significance 598981 rs749541061 2:220424193-220424193 2:219559471-219559471

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
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43 MeSH
44 MESH via Orphanet
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48 NCI
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53 NINDS
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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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