MCID: ART031
MIFTS: 47

Aortic Coarctation malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Aortic Coarctation

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Coarctation of the aorta, or aortic coarctation, is a congenital condition whereby the aorta narrows in... more...

MalaCards: Aortic Coarctation, also known as aorta coarctation, is related to aortic aneurysm and hypertension. An important gene associated with Aortic Coarctation is ADRB1 (adrenoceptor beta 1), and among its related pathways are Adrenoceptors and Prostacyclin signalling through prostacyclin receptor. The compounds hydralazine and captopril have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are adipose tissue and muscle.

Description from OMIM:46 120000

Aliases & Classifications for Aortic Coarctation

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42NIH Rare Diseases, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
aorta coarctation:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

aortic coarctation 42
aorta coarctation 48 46
coarctation of the aorta 42


External Ids:

MESH via Orphanet35 D001017, C531623
ICD10 via Orphanet26 Q25.1
SNOMED-CT via Orphanet57 7305005
UMLS via Orphanet61 C0003492
OMIM46 120000
ICD1025 Q25.1

Related Diseases for Aortic Coarctation

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Aortic Coarctation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 236)
idRelated DiseaseScoreTop Affiliating Genes
1aortic aneurysm31.3FBN1
2hypertension31.2AGTR1, AGT, CYP11B2, NOS3, ACE, ADRB1
3renal hypertension30.5ACE, EDN1
4coronary artery disease30.4ADRB2, ADRB1, ACE, NOS3, AGT, AGTR1
5ischemia30.4ADRB2, EDN1, AGT, NOS3
6obesity30.2ADRB1, NOS3, AGT, GNB3, ADRB2
7noonan syndrome30.2ACE, AGT, ADRB1, ADRB2, EDN1, AGTR1
8vascular disease30.2NOS3, AGT, AGTR1, EDN1, ACE
9atherosclerosis30.2NOS3, FBN1, AGTR1, GNB3, ADRB2, EDN1
10renovascular hypertension30.0AGTR1, ACE
11congenital heart defect30.0ACE, ADRB2, AGTR1, ADRB1
12acute myocardial infarction30.0ADRB2, ADRB1, ACE, AGT, AGTR1, EDN1
13pre-eclampsia30.0EDN1, NOS3, AGTR1, AGT, ADRB2, CYP11B2
14dilated cardiomyopathy30.0ACE, ADRB2, FBN1, EDN1, ADRB1, CYP11B2
15myocardial infarction30.0CYP11B2, ADRB1, GNB3, ADRB2, EDN1, AGTR1
16ventricular septal defect10.6
17cerebritis10.5
18aortic disease10.5
19patent ductus arteriosus10.5
20aorta atresia10.5
21thoracic aortic aneurysm10.5
22aortic valve stenosis10.4
23dextrocardia10.4
24atrioventricular septal defect10.4
25tetralogy of fallot10.4
26subacute bacterial endocarditis10.4
27pulmonary valve stenosis10.4
28supravalvular aortic stenosis10.3
29renal agenesis10.3
30takayasu's arteritis10.3
31endocarditis10.3
32ruptured aortic aneurysm10.3
33mitral valve stenosis10.2
34coronary aneurysm10.2
35intracranial aneurysm10.2
36abdominal aortic aneurysm10.2
37klippel-feil syndrome10.2
38aortic atherosclerosis10.2
39cervicitis10.2
40coronary stenosis10.2
41turner syndrome10.2
42kabuki syndrome10.2
43ebstein anomaly10.2
44carotid stenosis10.2
45congenital mitral regurgitation10.2
46factor v deficiency10.2
47factor vii deficiency10.2
48microcephaly10.2
49hypospadias10.2
50endocardial fibroelastosis10.2

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



Diseases related to aortic coarctation

Clinical Features for Aortic Coarctation

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Sources:
46OMIM
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Clinical features from OMIM:

120000

Clinical synopsis from OMIM:

120000

Drugs & Therapeutics for Aortic Coarctation

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Aortic Coarctation

Drug clinical trials:

Search ClinicalTrials for Aortic Coarctation

Search NIH Clinical Center for Aortic Coarctation

Search CenterWatch for Aortic Coarctation

Genetic Tests for Aortic Coarctation

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Anatomical Context for Aortic Coarctation

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32MalaCards
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MalaCards organs/tissues related to Aortic Coarctation:

32
Heart

Animal Models for Aortic Coarctation or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Aortic Coarctation:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053757.6FBN1, AGT, NOS3, ACE, ADRB1, ADRB2
2MP:00053697.1EDN1, FBN1, AGT, CYP11B2, NOS3, ADRB1
3MP:00053676.9EDN1, FBN1, AGTR1, AGT, CYP11B2, NOS3
4MP:00053796.9EDN1, FBN1, CYP11B2, NOS3, ACE, ADRB1
5MP:00053786.8AGTR1, AGT, CYP11B2, NOS3, ACE, ADRB1
6MP:00053856.3ADRB2, EDN1, FBN1, AGTR1, AGT, CYP11B2
7MP:00053766.1EDN1, FBN1, AGTR1, AGT, CYP11B2, NOS3
8MP:00107685.9GNB3, EDN1, FBN1, AGTR1, AGT, CYP11B2

Publications for Aortic Coarctation

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Genetic Variations for Aortic Coarctation

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Expression for genes affiliated with Aortic Coarctation

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
53Reactome, 49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore, 4Cell Signaling Technology, 29KEGG, 51QIAGEN
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Pathways related to Aortic Coarctation according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8ADRB1, ADRB2
2
Hide members
9.8ADRB2, ADRB1
3
Hide members
9.6NOS3, CYP11B2
4
Hide members
9.6AGT, AGTR1
5
G-protein signaling G-Protein alpha-i signaling cascades
Hide members
9.5GNB3, ADRB1, ADRB2
69.5ADRB2, ADRB1, GNB3
79.5ADRB2, ADRB1, GRK4
8
Hide members
9.3ADRB2, ADRB1, ACE
99.0EDN1, NOS3, ADRB1
10
Hide members
9.0GNB3, NOS3, ADRB1, ADRB2
118.9ADRB2, ADRB1, NOS3, AGTR1
12
Hide members
8.8GNB3, AGTR1, AGT, ACE
13
Hide members
8.7GNB3, EDN1, AGTR1, AGT
14
Hide members
8.7GNB3, GRK4, NOS3, ADRB1, ADRB2
15
Hide members
8.4ADRB2, ADRB1, AGT, EDN1, GNB3
16
Hide members
8.2NOS3, AGT, AGTR1, EDN1, GNB3
17
Hide members
8.0GNB3, EDN1, AGTR1, AGT, ADRB1, ADRB2
18
Hide members
7.2GNB3, EDN1, FBN1, AGTR1, AGT, ADRB1

Compounds for genes affiliated with Aortic Coarctation

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Aortic Coarctation according to GeneCards/GeneDecks:

(show top 50)    (show all 168)
idCompoundScoreTop Affiliating Genes
1hydralazine44 49 1112.6CYP11B2
2captopril44 28 49 59 1114.2EDN1
3isoproterenol44 1111.1AGTR1, ADRB1
4norepinephrine44 11 2412.0CYP11B2, ADRB1, GNB3
5clonidine44 28 1111.7GNB3, ADRB1, AGTR1
6bucindolol49 4410.6ACE, ADRB1, ADRB2
7aliskiren44 1110.4ACE, AGT, AGTR1
8saralasin449.4ACE, AGT, AGTR1
9bisoprolol44 49 1111.4ADRB2, ADRB1, ACE
10eprosartan44 28 1111.3ACE, AGT, AGTR1
11benazepril44 1110.3ACE, AGT, AGTR1
12lacidipine449.3ACE, EDN1, AGTR1
13pd12331944 2810.2AGT, AGTR1, ACE
14irbesartan44 28 49 1112.2AGT, AGTR1, ACE, CYP11B2
15trandolapril44 1110.1AGTR1, EDN1, ACE
16cilazapril44 1110.1EDN1, AGTR1, ACE
17olmesartan44 28 1111.0AGT, AGTR1, ACE
18perindopril44 49 1111.0NOS3, ACE, AGT, AGTR1
19candesartan44 28 1110.9NOS3, AGTR1, ACE, AGT
20amlodipine44 49 11 2411.9AGTR1, AGT, NOS3, ACE
21eplerenone44 59 28 1111.9AGTR1, ACE, CYP11B2
22hydrochlorothiazide44 49 28 11 2412.9ACE, CYP11B2, AGT, GNB3, AGTR1
23chymostatin448.9AGTR1, ACE, EDN1, AGT
24valsartan44 59 28 1111.9ACE, AGT, AGTR1, EDN1
25metoprolol44 28 49 11 2412.9GRK4, ADRB2, NOS3, ADRB1, ACE
26dopamine44 28 11 2411.9ADRB1, GRK4, AGT, AGTR1, ADRB2
27sildenafil44 49 28 11 2412.9EDN1, ACE, GNB3, NOS3
28diltiazem44 28 1110.9ACE, AGT, EDN1, AGTR1
29enalapril44 49 1110.8EDN1, AGTR1, AGT, ACE
30isosorbide dinitrate44 49 1110.8EDN1, NOS3, ACE
31l-nmma448.7NOS3, AGT, AGTR1, EDN1
32verapamil44 49 28 11 2412.6EDN1, AGTR1, ADRB1, ADRB2, ACE
33phenylephrine44 28 11 2411.6NOS3, AGT, EDN1, AGTR1, ADRB1
34nebivolol44 119.6ADRB2, ACE, EDN1, NOS3, ADRB1
35atenolol44 28 49 11 2412.6ACE, AGTR1, AGT, CYP11B2, ADRB1, ADRB2
36losartan44 49 28 1111.6AGT, ACE, CYP11B2, EDN1, AGTR1
37nitroglycerin44 119.5AGTR1, EDN1, GNB3, NOS3, ACE
38nifedipine44 49 28 1111.5EDN1, AGTR1, CYP11B2, AGT, ACE
39epinephrine44 11 2410.4AGT, ADRB1, ADRB2, EDN1, GNB3, AGTR1
40prostacyclin448.2AGT, ACE, EDN1, AGTR1, NOS3
41potassium44 11 2410.2ADRB2, ADRB1, ACE, CYP11B2, AGT, AGTR1
42carvedilol44 49 28 1111.2EDN1, NOS3, ADRB1, ADRB2, ACE, AGTR1
43ang ii448.1ACE, NOS3, EDN1, CYP11B2, AGTR1, AGT
44acetylcholine44 49 28 11 2411.9AGT, NOS3, AGTR1, EDN1, ACE, ADRB2
45glucose447.8ADRB2, ACE, AGTR1, ADRB1, AGT, GNB3
46sodium44 248.6EDN1, ACE, CYP11B2, GRK4, AGT, AGTR1
47lipid447.3CYP11B2, ACE, ADRB2, ADRB1, AGTR1, GNB3
48nitric oxide44 11 249.1GNB3, EDN1, AGTR1, AGT, CYP11B2, NOS3
49arginine447.1EDN1, CYP11B2, NOS3, FBN1, AGTR1, AGT
50oxygen44 248.1ADRB2, ADRB1, NOS3, CYP11B2, AGT, AGTR1

GO Terms for genes affiliated with Aortic Coarctation

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16Gene Ontology
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Biological processes related to Aortic Coarctation according to GeneCards/GeneDecks:

(show all 34)
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:04598610.2ADRB2, ADRB1
4diet induced thermogenesisGO:00202410.1ADRB2, ADRB1
5negative regulation of multicellular organism growthGO:04001510.1ADRB1, ADRB2
6positive regulation of NAD(P)H oxidase activityGO:03386410.0AGTR1, AGT
7regulation of blood vessel size by renin-angiotensinGO:00203410.0AGTR1, AGT
8renin-angiotensin regulation of aldosterone productionGO:00201810.0AGT, AGTR1
9regulation of renal sodium excretionGO:03581310.0AGT, AGTR1
10positive regulation of cholesterol esterificationGO:0108739.9AGT, AGTR1
11regulation of systemic arterial blood pressure by renin-angiotensinGO:0030819.9ACE, AGTR1
12regulation of renal output by angiotensinGO:0020199.9AGT, ACE
13low-density lipoprotein particle remodelingGO:0343749.9AGT, AGTR1
14positive regulation of cellular protein metabolic processGO:0322709.9AGTR1, AGT
15activation of adenylate cyclase activityGO:0071909.8ADRB2, ADRB1
16regulation of sodium ion transportGO:0020289.8ADRB2, NOS3
17response to coldGO:0094099.8ADRB2, ADRB1, AGT
18regulation of calcium ion transportGO:0519249.7ADRB1, AGT
19positive regulation of macrophage derived foam cell differentiationGO:0107449.7AGTR1, AGT
20angiotensin maturationGO:0020039.7AGT, ACE
21artery smooth muscle contractionGO:0148249.7AGT, EDN1
22positive regulation of cardiac muscle hypertrophyGO:0106139.7AGT, EDN1
23regulation of systemic arterial blood pressure by endothelinGO:0031009.7NOS3, EDN1
24elevation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathwayGO:0514829.6EDN1, AGTR1
25regulation of vasodilationGO:0423129.6AGTR1, ACE, ADRB2
26nitric oxide mediated signal transductionGO:0072639.6NOS3, AGT
27positive regulation of renal sodium excretionGO:0358159.5EDN1, AGT
28brown fat cell differentiationGO:0508739.5ADRB2, ADRB1
29positive regulation of reactive oxygen species metabolic processGO:20003799.5AGTR1, AGT
30regulation of blood pressureGO:0082179.5GNB3, NOS3, ACE
31kidney developmentGO:0018229.4AGTR1, AGT, ACE
32blood vessel remodelingGO:0019749.4ACE, NOS3, AGT
33G-protein coupled receptor signaling pathwayGO:0071869.0GNB3, EDN1, AGTR1, AGT
34regulation of vasoconstrictionGO:0192298.9ACE, AGT, AGTR1, EDN1

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

idNameGO IDScoreTop Affiliating Genes
1norepinephrine bindingGO:0513809.8ADRB2, ADRB1
2acetyltransferase activator activityGO:0106989.5AGT, AGTR1
3bradykinin receptor bindingGO:0317119.2ACE, AGTR1

Products for genes affiliated with Aortic Coarctation

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet