MCID: ART031
MIFTS: 62

Aortic Coarctation malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Aortic Coarctation

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Wikipedia:65 Coarctation of the aorta, or aortic narrowing (abbreviated as CoA), is a congenital condition whereby... more...

MalaCards based summary: Aortic Coarctation, also known as aorta coarctation, is related to renovascular hypertension and congenital heart disease, and has symptoms including An important gene associated with Aortic Coarctation is ADRB1 (adrenoceptor beta 1), and among its related pathways are Monoamine GPCRs and Sympathetic Nerve Pathway (Neuroeffector Junction). The compounds bucindolol and bisoprolol have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and brain, and related mouse phenotypes are adipose tissue and skeleton.

Description from OMIM:46 120000

Aliases & Classifications for Aortic Coarctation

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Sources:
42NIH Rare Diseases, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Aortic Coarctation, Aliases & Descriptions:

Name: Aortic Coarctation 42
Aorta Coarctation 48 46
 
Coarctation of the Aorta 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
aorta coarctation:
Age of onset: Neonatal/infancy


External Ids:

OMIM46 120000
MESH via Orphanet35 C531623, D001017
ICD10 via Orphanet26 Q25.1
UMLS via Orphanet63 C0003492
ICD1025 Q25.1

Related Diseases for Aortic Coarctation

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Diseases related to Aortic Coarctation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 240)
idRelated DiseaseScoreTop Affiliating Genes
1renovascular hypertension30.5AGTR1, ACE
2congenital heart disease30.3ADRB1, ADRB2, ACE, AGTR1
3pulmonary hypertension30.1EDN1, AGT, NOS3
4ischemia30.0AGT, ADRB2, EDN1, NOS3
5obesity29.9ADRB2, AGT, GNB3, NOS3, ADRB1
6hypertension29.7NOS3, EDN1, CYP11B2, GNB3, ADRB1, ADRB2
7noonan syndrome29.6ACE, AGTR1, ADRB2, AGT, ADRB1, EDN1
8dilated cardiomyopathy29.4EDN1, ACE, FBN1, ADRB2, CYP11B2, ADRB1
9pre-eclampsia29.2AGTR1, ADRB2, EDN1, CYP11B2, NOS3, AGT
10coronary artery anomaly28.9ACE, AGTR1, AGT, NOS3, ADRB1, EDN1
11atherosclerosis28.7AGTR1, AGT, ADRB2, ACE, GNB3, FBN1
12aneurysm10.9
13aortic aneurysm10.6
14ventricular septal defect10.6
15cerebritis10.6
16left ventricular outflow tract obstruction10.6
17patent ductus arteriosus10.6
18pulmonic stenosis10.5
19hypoaldosteronism10.5CYP11B2
20aortic arch interruption10.5
21tetralogy of fallot10.5
22dextrocardia10.5
23subacute bacterial endocarditis10.5
24atrioventricular septal defect10.5
25pulmonary valve stenosis10.5
26gitelman syndrome10.4AGT
27oligohydramnios10.4ACE
28phace syndrome10.4
29renal agenesis10.4
30supravalvular aortic stenosis10.4
31aplasia cutis congenita10.4
32congenital mitral stenosis10.4
33hepatorenal syndrome10.4EDN1
34essential hypertension10.3AGT, GNB3
35thoracic aortic aneurysm10.3
36takayasu's arteritis10.3
37artery disease10.3
38endocarditis10.3
39alveolar capillary dysplasia10.3
40transposition of the great arteries10.3
41conn's syndrome10.3CYP11B2, AGTR1
42renal tubular dysgenesis10.3AGT, AGTR1
43low renin hypertension10.3EDN1, CYP11B2
44pure autonomic failure10.3ACE, GNB3
45acute chest syndrome10.3NOS3
46mitral valve prolapse10.2FBN1, AGTR1
47intracranial aneurysm10.2
48aortic valve stenosis10.2
49cervicitis10.2
50turner syndrome10.2

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



Diseases related to aortic coarctation

Symptoms for Aortic Coarctation

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Symptoms by clinical synopsis from OMIM:

120000

Clinical features from OMIM:

120000

HPO human phenotypes related to Aortic Coarctation:

id Description Frequency HPO Source Accession
1 coarctation of aorta HP:0001680
2 hypoplastic left heart HP:0004383

Drugs & Therapeutics for Aortic Coarctation

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Drug clinical trials:

Search ClinicalTrials for Aortic Coarctation

Search NIH Clinical Center for Aortic Coarctation

Genetic Tests for Aortic Coarctation

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Anatomical Context for Aortic Coarctation

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MalaCards organs/tissues related to Aortic Coarctation:

32
Heart, Kidney, Brain, Spinal cord, Endothelial, Pancreas, Testes

Animal Models for Aortic Coarctation or affiliated genes

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Publications for Aortic Coarctation

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Articles related to Aortic Coarctation:

(show top 50)    (show all 522)
idTitleAuthorsYear
1
Pressure fields by flow-sensitive, 4D, velocity-encoded CMR in patients with aortic coarctation. (25212797)
2014
2
Increased carotid intima-media thickness predicts cardiovascular events in aortic coarctation. (25205481)
2014
3
Transcatheter aortic valve implantation in aortic coarctation. (22215496)
2013
4
Continuous cerebral and myocardial perfusion during one-stage repair for aortic coarctation with ventricular septal defect. (23132178)
2013
5
Echo rounds: transesophageal echocardiographic imagings of endovascular stent placement for the treatment of aortic coarctation with bicuspid aortic valve. (23835451)
2013
6
Aortic coarctation and coronary artery disease: the XY factor. (22675159)
2012
7
Different transcatheter strategies for aortic coarctation associated with patent ductus arteriosus. (22929832)
2012
8
Surgical versus percutaneous treatment of aortic coarctation: new standards in an era of transcatheter repair. (23253276)
2012
9
Neurohormonal activity and vascular properties late after aortic coarctation repair. (21429604)
2012
10
Delayed onset of anterior spinal artery syndrome after repair of aortic coarctation. (22858787)
2012
11
Staged hybrid treatment of complex ascending aortic and distal aortic arch pseudoaneurysm after repair of aortic coarctation. (18948867)
2011
12
Prevalence of associated cardiovascular abnormalities in 500 patients with aortic coarctation referred for cardiovascular magnetic resonance imaging to a tertiary center. (21512788)
2011
13
Therapy refractory hypertension in adults: aortic coarctation has to be ruled out. (21475399)
2011
14
Aortic coarctation in the presence of capillary hemangioma. (21764546)
2011
15
External aortic diameter ratios: a reliable method to diagnose preductal aortic coarctation. (21609160)
2011
16
Redo sternotomy for extra-anatomical correction of aortic coarctation and mitral repair in an adult after failed endovascular treatment. (21780060)
2011
17
Surgical treatment for aortic coarctation with chronic type B dissection: report of a case. (23555479)
2011
18
Atypical chest pain and hemoptysis 27 years after aortic coarctation surgery: aortobronchial fistula, management and endovascular treatment. (21489674)
2011
19
Contribution of nitric oxide synthase (NOS) activity in blood-brain barrier disruption and edema after acute ischemia/reperfusion in aortic coarctation-induced hypertensive rats. (21725496)
2011
20
Interrupted aortic arch and aortic coarctation: two similar entities. (20200652)
2010
21
Isolated aortic coarctation: experience in 100 consecutive patients. (20391897)
2010
22
Correction of aortic coarctation with interposition of a tube in a 12 years-old child. (21340394)
2010
23
Polysplenia/heterotaxy syndrome associated with aortic coarctation and multiple venous anomalies: multidetector computed tomography findings. (20484074)
2010
24
Technique of interventional repair in adult aortic coarctation. (20223618)
2010
25
Effectiveness and safety of balloon dilation of native aortic coarctation in premature neonates weighing < or = 2,500 grams. (20381673)
2010
26
A case of asymptomatic high-grade aortic coarctation. (21687218)
2009
27
Repair of aortic coarctation in an adult by direct aortoplasty. (19917797)
2009
28
A late presentation of Dandy-Walker malformation and aortic coarctation. (20019621)
2009
29
Sudden onset of sharp left-sided chest pain and hemoptysis in a young man with a history of childhood aortic coarctation repair. (18834811)
2009
30
Complete tracheal duplication in an adult with thoracic aortic coarctation. (19465840)
2009
31
What is the preferred therapy for patients with aortic coarctation--the standard gamble and decision analysis versus real results? (18093361)
2008
32
Surgical treatment of aortic coarctation in adults: Beneficial effect on arterial hypertension. (19039758)
2008
33
Mitral valve replacement with the beating heart technique in a patient with previous bypass graft from ascending to descending aorta due to aortic coarctation. (18304132)
2008
34
Moyamoya disease and aortic coarctation in a patient with common brachiocephalic trunk. (17347086)
2007
35
Aortic coarctation diagnosed by 64-slice computed tomography angiography. (17980292)
2007
36
Endovascular treatment of aortic coarctation in an adult with isthmic hypoplasia. (17484542)
2007
37
Reversibility of changes in hepatic vessels after correction of experimental aortic coarctation. (17152376)
2006
38
Right aortic coarctation and ventricular septal defect: an unusual cause of tracheal compression in infancy. (18377543)
2006
39
Effects of aortic coarctation on aortic antioxidant enzymes and NADPH oxidase protein expression. (15589970)
2005
40
Images in cardiology. Collateral circulation in aortic coarctation shown by 64 channel multislice computed tomography angiography. (16230439)
2005
41
Aortic coarctation endarteritis in an adult: case report with cardiovascular magnetic resonance imaging findings and review of the literature. (15712067)
2005
42
Endovascular stenting for aortic coarctation. (16181033)
2005
43
Hypertension induced by aortic coarctation above the renal arteries is associated with immune cell infiltration of the kidneys. (16280280)
2005
44
Usefulness of MRI in the follow-up of patients with repaired aortic coarctation and bicuspid aortic valve. (16098395)
2005
45
Asymptomatic aortic coarctation associated with loss of luminal continuity and intercostal artery aneurysm. (15041948)
2004
46
Percutaneous balloon dilatation of mitral valve stenosis and aortic coarctation. (12454343)
2002
47
An unusual type of combined aortic coarctation due to fibromuscular dysplasia. (10386705)
1999
48
Aortic coarctation, multiple ventricular septal defects, and anomalous coronary artery arising from the right pulmonary artery. (9451072)
1998
49
Functional aortic coarctation caused by thrombosis within a thoracic aortic aneurysm. (1572887)
1992
50
Scimitar syndrome associated with patent ductus arteriosus, aortic coarctation and irreversible pulmonary hypertension. (4236474)
1968

Variations for Aortic Coarctation

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Expression for genes affiliated with Aortic Coarctation

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Expression patterns in normal tissues for genes affiliated with Aortic Coarctation

Search GEO for disease gene expression data for Aortic Coarctation.

Pathways for genes affiliated with Aortic Coarctation

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Pathways related to Aortic Coarctation according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8ADRB2, ADRB1
29.8ADRB2, ADRB1
39.6AGTR1, ADRB2
49.5GNB3, ADRB1, ADRB2
5
Show member pathways
9.5GNB3, ADRB1, ADRB2
69.5ADRB2, ADRB1, GNB3
7
Show member pathways
9.5GNB3, ADRB1, ADRB2
89.5GNB3, ADRB1, ADRB2
9
Show member pathways
Development Beta adrenergic receptors regulation of ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
9.5ADRB2, ADRB1, GNB3
109.5ADRB1, ADRB2, GRK4
119.4AGT, EDN1
129.4AGTR1, ADRB2, ADRB1
13
Show member pathways
9.3GNB3, ADRB2, AGTR1
14
Show member pathways
9.2AGT, ACE, GNB3
159.0NOS3, EDN1
16
Show member pathways
8.8GNB3, ACE, AGT, AGTR1
178.7EDN1, ADRB1, NOS3
18
Show member pathways
8.7GNB3, ADRB1, ADRB2, NOS3
19
Show member pathways
8.7EDN1, GNB3, AGT, AGTR1
208.5AGTR1, NOS3, ADRB2, ADRB1
21
Show member pathways
8.5AGT, ADRB2, ADRB1, GNB3, EDN1
22
Show member pathways
Calcium Regulation in the Cardiac Cell37
8.3GNB3, ADRB1, ADRB2, GRK4, NOS3
23
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.3EDN1, GNB3, NOS3, AGTR1
24
Show member pathways
8.0EDN1, GNB3, ADRB1, ADRB2, AGT, AGTR1
25
Show member pathways
8.0EDN1, GNB3, ADRB1, ADRB2, AGT, AGTR1
26
Show member pathways
8.0AGTR1, AGT, NOS3, ACE, CYP11B2

Compounds for genes affiliated with Aortic Coarctation

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Compounds related to Aortic Coarctation according to GeneCards/GeneDecks:

(show top 50)    (show all 180)
idCompoundScoreTop Affiliating Genes
1bucindolol44 5010.6ADRB1, ADRB2, ACE
2bisoprolol44 50 1111.4ADRB1, ADRB2, ACE
3aliskiren44 1110.4AGTR1, ACE, AGT
4saralasin449.3ACE, AGTR1, AGT
5eprosartan44 28 1111.2ACE, AGTR1, AGT
6eplerenone44 61 28 1112.2CYP11B2, ACE, AGTR1
7lacidipine449.2EDN1, ACE, AGTR1
8beta blocking agents509.2ADRB1, ACE, NOS3
9pd12331944 2810.1AGT, ACE, AGTR1
10hydralazine44 50 1111.0AGTR1, EDN1, ACE, CYP11B2
11cilazapril44 119.9AGTR1, ACE, EDN1
12hydrochlorothiazide44 28 50 24 1112.9AGTR1, GNB3, ACE, CYP11B2, AGT
13chymostatin448.9AGT, EDN1, AGTR1, ACE
14benazepril44 50 1110.9AGT, ACE, ADRB2, CYP11B2, AGTR1
15valsartan44 61 28 1111.9ACE, AGTR1, AGT, EDN1
16diltiazem44 28 50 1111.8AGT, EDN1, ACE, AGTR1
17clonidine44 50 28 1111.8ADRB1, AGTR1, GNB3, NOS3
18olmesartan44 28 1110.8AGTR1, AGT, ACE
19trandolapril44 119.8AGTR1, ACE, EDN1
20captopril44 61 50 28 1112.7AGTR1, EDN1, AGT, ACE
21perindopril44 50 1110.6AGT, ACE, NOS3, AGTR1
22isoproterenol44 119.6EDN1, ADRB2, AGT, AGTR1, ADRB1
23amlodipine44 50 24 1111.6AGT, NOS3, ACE, AGTR1
24irbesartan44 28 50 1111.6AGTR1, AGT, ACE, CYP11B2, EDN1
25verapamil44 28 50 24 1112.6AGTR1, ACE, ADRB2, ADRB1, EDN1
26metoprolol44 50 28 24 1112.6ADRB1, NOS3, ADRB2, ACE, GRK4
27losartan44 50 28 1111.6AGT, ACE, EDN1, CYP11B2, AGTR1
28dopamine44 28 24 1111.6ADRB1, ADRB2, GRK4, AGTR1, AGT, GNB3
29sildenafil28 44 50 24 1112.5ACE, GNB3, EDN1, NOS3
30enalapril44 50 1110.5AGT, ACE, EDN1, AGTR1, ADRB2
31nifedipine44 28 50 1111.5EDN1, CYP11B2, AGTR1, ACE, AGT
32l-nmma448.4AGT, NOS3, AGTR1, EDN1
33epinephrine44 24 1110.4EDN1, ADRB1, GNB3, ADRB2, AGT, AGTR1
34candesartan44 50 28 1111.4NOS3, AGT, AGTR1, ACE, CYP11B2
35nebivolol44 119.3NOS3, ACE, ADRB2, EDN1, ADRB1
36phenylephrine44 28 24 1111.3AGT, NOS3, ADRB1, EDN1, AGTR1
37potassium44 24 1110.2ADRB2, AGTR1, ACE, ADRB1, GNB3, CYP11B2
38nitroglycerin44 119.1EDN1, GNB3, AGTR1, ACE, NOS3
39glucose448.0AGTR1, AGT, ACE, CYP11B2, ADRB2, GNB3
40prostacyclin447.9ACE, NOS3, EDN1, AGT, AGTR1
41carvedilol44 50 28 1110.8AGTR1, ADRB1, ADRB2, ACE, NOS3, EDN1
42ang ii447.8AGT, EDN1, CYP11B2, ACE, NOS3, AGTR1
43lipid447.7FBN1, CYP11B2, GNB3, ADRB1, ADRB2, ACE
44sodium44 248.6AGT, AGTR1, EDN1, GNB3, CYP11B2, ADRB1
45acetylcholine44 50 28 24 1111.6EDN1, ADRB2, AGTR1, AGT, ACE, NOS3
46atenolol44 50 28 24 1111.6GNB3, EDN1, CYP11B2, AGTR1, AGT, ACE
47norepinephrine44 24 119.6ACE, EDN1, AGT, CYP11B2, GNB3, ADRB1
48arginine447.1ADRB1, AGT, NOS3, AGTR1, EDN1, CYP11B2
49oxygen44 248.1EDN1, AGTR1, ADRB2, CYP11B2, AGT, NOS3
50nitric oxide44 24 118.8AGTR1, EDN1, NOS3, ACE, ADRB2, ADRB1

GO Terms for genes affiliated with Aortic Coarctation

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Biological processes related to Aortic Coarctation according to GeneCards/GeneDecks:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1heat generationGO:03164910.2ADRB1, ADRB2
2vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressureGO:00202510.2ADRB1, ADRB2
3negative regulation of smooth muscle contractionGO:04598610.2ADRB1, ADRB2
4diet induced thermogenesisGO:00202410.2ADRB1, ADRB2
5negative regulation of multicellular organism growthGO:04001510.1ADRB2, ADRB1
6positive regulation of NAD(P)H oxidase activityGO:03386410.0AGT, AGTR1
7regulation of blood vessel size by renin-angiotensinGO:00203410.0AGT, AGTR1
8regulation of calcium ion transportGO:05192410.0AGT, ADRB1
9regulation of renal sodium excretionGO:03581310.0AGT, AGTR1
10brown fat cell differentiationGO:05087310.0ADRB1, ADRB2
11renin-angiotensin regulation of aldosterone productionGO:00201810.0AGT, AGTR1
12activation of adenylate cyclase activityGO:00719010.0ADRB2, ADRB1
13positive regulation of cholesterol esterificationGO:01087310.0AGT, AGTR1
14regulation of renal output by angiotensinGO:00201910.0ACE, AGT
15low-density lipoprotein particle remodelingGO:0343749.9AGT, AGTR1
16positive regulation of cellular protein metabolic processGO:0322709.9AGT, AGTR1
17positive regulation of macrophage derived foam cell differentiationGO:0107449.9AGTR1, AGT
18regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.9ACE, AGTR1
19angiotensin maturationGO:0020039.8ACE, AGT
20response to coldGO:0094099.8ADRB1, ADRB2, AGT
21positive regulation of reactive oxygen species metabolic processGO:20003799.8AGTR1, AGT
22artery smooth muscle contractionGO:0148249.8AGT, EDN1
23positive regulation of cardiac muscle hypertrophyGO:0106139.8EDN1, AGT
24positive regulation of renal sodium excretionGO:0358159.7EDN1, AGT
25positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling paGO:0514829.7EDN1, AGTR1
26phospholipase C-activating G-protein coupled receptor signaling pathwayGO:0072009.7AGTR1, AGT
27regulation of sodium ion transportGO:0020289.6ADRB2, NOS3
28sensory perception of painGO:0192339.6ADRB1, EDN1
29positive regulation of endothelial cell migrationGO:0105959.6EDN1, AGT
30regulation of vasodilationGO:0423129.5ADRB2, ACE, AGTR1
31positive regulation of inflammatory responseGO:0507299.5AGT, AGTR1
32nitric oxide mediated signal transductionGO:0072639.5NOS3, AGT
33Rho protein signal transductionGO:0072669.4ADRB1, AGTR1
34regulation of systemic arterial blood pressure by endothelinGO:0031009.4EDN1, NOS3
35calcium-mediated signalingGO:0197229.4AGTR1, EDN1
36regulation of blood pressureGO:0082179.2NOS3, ACE, GNB3
37blood vessel remodelingGO:0019749.1AGT, NOS3, ACE
38G-protein coupled receptor signaling pathwayGO:0071869.0AGTR1, AGT, GNB3, EDN1
39kidney developmentGO:0018229.0AGTR1, AGT, ACE, FBN1
40regulation of vasoconstrictionGO:0192298.9AGTR1, AGT, ACE, EDN1

Molecular functions related to Aortic Coarctation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1norepinephrine bindingGO:0513809.5ADRB2, ADRB1
2bradykinin receptor bindingGO:0317119.4AGTR1, ACE
3protein bindingGO:0055156.1FBN1, GNB3, ADRB1, ADRB2, ACE, NOS3

Products for genes affiliated with Aortic Coarctation

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  • Antibodies
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Sources for Aortic Coarctation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet