MCID: ESN011
MIFTS: 40

Eisenmenger Syndrome malady

Respiratory diseases category

Summaries for Eisenmenger Syndrome

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Eisenmenger syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect). this causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension). last updated: 10/21/2010

MalaCards: Eisenmenger Syndrome is related to hypertension and primary pulmonary hypertension. An important gene associated with Eisenmenger Syndrome is THBD (thrombomodulin), and among its related pathways are PEDF Induced Signaling and TGF Beta Signaling Pathway. The compounds warfarin and matrigel have been mentioned in the context of this disorder. Affiliated tissues include lung and heart, and related mouse phenotypes are endocrine/exocrine gland and muscle.

Aliases & Classifications for Eisenmenger Syndrome

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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Respiratory diseases


Characteristics (Orphanet epidemiological data):

48
eisenmenger syndrome:
Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Adult


Aliases & Descriptions:

eisenmenger syndrome 42 44 48


External Ids:

SNOMED-CT via Orphanet57 204311009, 445928005, 83130006
ICD10 via Orphanet26 I27.2

Related Diseases for Eisenmenger Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Eisenmenger Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 146)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.9ACE, EDN1, BMPR2, TGFB1
2primary pulmonary hypertension30.4TGFBR2, VIP, THBD, EDN1, BMPR2
3vascular disease30.2VWF, THBD
4rheumatoid arthritis30.0TGFBR2, VIP
5arthritis30.0VIP, TGFB1
6myocardial infarction29.9VWF, EDN1, ACE
7congenital heart defect29.9EDN1, BMPR2
8adult syndrome10.7
9ventricular septal defect10.5
10down syndrome10.3
11patent ductus arteriosus10.3
12hypertensive heart disease10.2
13tetralogy of fallot10.1
14image syndrome10.1
15angina pectoris10.0
16persistent fetal circulation syndrome10.0
17hemopneumothorax10.0
18central retinal vein occlusion10.0
19juvenile rheumatoid arthritis10.0
20septal myocardial infarction10.0
21inferior myocardial infarction10.0
22acute pulmonary heart disease10.0
23heart septal defect10.0
24hyperparathyroidism10.0
25intellectual disability10.0
26polycythemia10.0
27retinal vein occlusion10.0
28retinitis10.0
29thalassemia10.0
30vaginitis10.0
31lupus erythematosus10.0THBD
32eclampsia10.0THBD
33uremia10.0VWF
34intermittent claudication10.0VWF
35hypothyroidism10.0VWF
36hellp syndrome10.0VWF
37disseminated intravascular coagulation10.0THBD
38leiomyoma10.0TGFBR2
39polycythemia vera10.0THBD
40hepatopulmonary syndrome10.0EDN1
41allergic rhinitis10.0VIP
42migraine10.0VIP
43rhinitis10.0VIP
44acromegaly10.0VIP
45diarrhea10.0VIP
46endometrial carcinoma10.0TGFBR2
47cystic fibrosis10.0VIP
48psoriasis10.0VIP
49thromboembolism10.0THBD, VWF
50pancreatitis10.0TGFB1

Graphical network of the top 20 diseases related to Eisenmenger Syndrome:



Diseases related to eisenmenger syndrome

Clinical Features for Eisenmenger Syndrome

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Drugs & Therapeutics for Eisenmenger Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Eisenmenger Syndrome

Drug clinical trials:

Search ClinicalTrials for Eisenmenger Syndrome

Search NIH Clinical Center for Eisenmenger Syndrome

Search CenterWatch for Eisenmenger Syndrome

Genetic Tests for Eisenmenger Syndrome

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Anatomical Context for Eisenmenger Syndrome

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32MalaCards
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MalaCards organs/tissues related to Eisenmenger Syndrome:

32
Lung, Heart

Animal Models for Eisenmenger Syndrome or affiliated genes

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36MGI
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Publications for Eisenmenger Syndrome

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Genetic Variations for Eisenmenger Syndrome

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Expression for genes affiliated with Eisenmenger Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Eisenmenger Syndrome

Search GEO for disease gene expression data for Eisenmenger Syndrome.

Pathways for genes affiliated with Eisenmenger Syndrome

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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 53Reactome, 52R&D Systems, 59Tocris Bioscience, 12EMD Millipore, 4Cell Signaling Technology, 49PharmGKB, 55SinoBiological
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Pathways related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

(show all 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.1TGFBR1
210.1TGFBR1
3
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10.1BMPR2
4
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10.1TGFBR2
510.0TGFBR3
6
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9.9THBD, VWF
79.7TGFBR2, TGFBR1
89.7TGFBR2, TGFBR1
9
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9.5TGFBR1, TGFB1
109.3TGFBR1, TGFBR2, BMPR2
11
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9.3TGFBR1, TGFBR2, TGFBR3
12
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9.3TGFBR3, TGFBR2, TGFBR1
13
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9.2TGFBR3, ACE
149.1BMPR2, TGFBR1, TGFB1
15
Transcription Androgen Receptor nuclear signaling
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9.1TGFBR2, TGFBR1, TGFB1
16
Cell cycle Cell cycle (generic schema)
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9.1TGFBR2, TGFBR1, TGFB1
179.1TGFBR2, TGFBR1, TGFB1
18
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9.1TGFBR2, TGFBR1, TGFB1
19
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9.1TGFB1, TGFBR1, TGFBR2
209.1TGFB1, TGFBR1, TGFBR2
219.1TGFB1, TGFBR1, TGFBR2
22
Cytokine production by Th17 cells in CF (Mouse model)
9.1TGFB1, TGFBR1, TGFBR2
239.1TGFB1, TGFBR1, TGFBR2
24
Development TGF-beta receptor signaling
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9.1TGFB1, TGFBR1, TGFBR2
25
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9.1TGFB1, TGFBR1, TGFBR2
269.1TGFB1, TGFBR1, TGFBR2
27
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9.1TGFB1, TGFBR1, TGFBR2
28
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9.1TGFB1, TGFBR1, TGFBR2
299.1TGFBR3, TGFBR1, TGFB1
30
Hide members
9.0TGFB1, ACE
318.9BMPR2, TGFBR3, TGFBR2, TGFBR1
328.7BMPR2, TGFBR2, TGFBR1, TGFB1
338.7TGFB1, TGFBR1, TGFBR2, BMPR2
348.6TGFBR3, TGFBR2, TGFBR1, TGFB1
35
Hide members
8.6TGFBR3, TGFBR2, TGFBR1, TGFB1
36
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8.6TGFBR3, TGFBR2, TGFBR1, TGFB1
378.6TGFBR3, TGFBR2, TGFBR1, TGFB1
38
Hide members
8.6TGFB1, TGFBR1, TGFBR2, TGFBR3
39
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8.6TGFB1, TGFBR1, TGFBR2, TGFBR3
40
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8.6TGFB1, TGFBR1, TGFBR2, TGFBR3
418.6TGFB1, TGFBR1, TGFBR2, TGFBR3
428.6TGFB1, TGFBR1, TGFBR2, TGFBR3
43
Hide members
8.6TGFB1, TGFBR1, TGFBR2, TGFBR3
448.3BMPR2, TGFBR3, TGFBR2, TGFBR1, TGFB1
45
Hide members
8.3BMPR2, TGFBR3, TGFBR2, TGFBR1, TGFB1
46
Hide members
8.3TGFB1, TGFBR1, TGFBR2, TGFBR3, BMPR2

Compounds for genes affiliated with Eisenmenger Syndrome

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

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.5VWF
2matrigel4410.5TGFBR1
3pge14410.4THBD
4norepinephrine44 11 2412.2VIP
5beraprost sodium4410.1VWF, THBD
6captopril44 28 49 59 1113.8VIP, EDN1
76-ketoprostaglandin f1alpha449.8VWF, EDN1, THBD
8txb2449.7VWF, THBD, EDN1
9thromboxane44 2410.7THBD, EDN1, VWF
10kininogen449.7ACE, VWF
11tetramethylpyrazine449.5EDN1, VWF
12betacarotene449.5TGFB1, THBD, VWF
13aprotinin44 1110.5VIP, THBD, VWF
14sildenafil44 49 28 11 2413.5TGFB1, ACE
15adp44 28 2411.5BMPR2, TGFBR1
16methoxamine28 44 1111.4VIP, EDN1
17lacidipine449.4ACE, EDN1
18quinapril44 1110.2EDN1, VWF, ACE
19tetracycline44 1110.2TGFB1, TGFBR2, VWF
20agarose449.2VWF, TGFB1, TGFBR2, THBD
21nebivolol44 1110.2EDN1, ACE
22cyclosporin a44 28 5911.2TGFBR2, THBD, EDN1, VIP
23creatinine449.1TGFB1, THBD, ACE
24thyroxine44 2410.1THBD, TGFB1, VWF, VIP
25thiorphan44 28 1111.0EDN1, VIP, ACE
26polyethylene glycol449.0THBD, VIP, TGFB1
27metformin44 49 1111.0TGFB1, ACE, VWF
28enalapril44 49 1111.0ACE, VIP, EDN1
29serine449.0TGFBR1, VIP, TGFB1, BMPR2
30dexamethasone44 49 28 1112.0VIP, TGFBR2, TGFB1, TGFBR1
31phosphoramidon44 1110.0EDN1, VIP, ACE
32dihydrotestosterone44 28 11 2412.0VIP, TGFB1, TGFBR1, TGFBR2
33nitroglycerin44 1110.0ACE, EDN1, VIP
34sodium nitroprusside448.9VWF, EDN1, VIP, TGFB1
35ang ii448.9ACE, TGFB1, EDN1
36perindopril44 49 1110.9THBD, VWF, TGFB1, ACE
37oligonucleotide448.8TGFBR1, VWF, TGFB1, TGFBR2, THBD
38aspirin44 49 28 2411.8ACE, THBD, TGFB1, VWF
39arginine448.7BMPR2, VWF, EDN1, VIP, THBD
40histamine44 28 2410.6TGFB1, THBD, VWF, VIP, EDN1
41tyrosine448.6TGFBR2, VIP, BMPR2, TGFBR1, VWF, THBD
42acetylcholine44 49 28 11 2412.5VIP, VWF, EDN1, ACE
43threonine448.4TGFB1, TGFBR1, BMPR2, TGFBR2, TGFBR3
44prostacyclin448.4VIP, EDN1, ACE, VWF, THBD
45verapamil44 49 28 11 2412.4TGFB1, ACE, EDN1, VIP
46alanine448.4TGFB1, TGFBR1, VWF, VIP, THBD, TGFBR2
47losartan44 49 28 1111.3THBD, ACE, TGFB1, VWF, EDN1
48nitric oxide44 11 2410.2VIP, VWF, THBD, BMPR2, ACE, TGFBR2
49nifedipine44 49 28 1111.1TGFB1, VIP, ACE, THBD, EDN1
50vegf447.9EDN1, TGFB1, TGFBR1, TGFBR2, VWF, VIP

GO Terms for genes affiliated with Eisenmenger Syndrome

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16Gene Ontology
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Cellular components related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:0700229.7TGFBR1, TGFBR2
2receptor complexGO:0432359.7TGFBR1, TGFBR2
3proteinaceous extracellular matrixGO:0055788.8TGFB1, TGFBR3, VWF
4cell surfaceGO:0099868.6BMPR2, THBD, TGFBR3, TGFB1
5external side of plasma membraneGO:0098978.5TGFBR2, TGFBR3, ACE, VWF

Biological processes related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell migrationGO:01063410.0TGFBR2, BMPR2
2negative regulation of blood coagulationGO:03019510.0THBD, EDN1
3blastocyst developmentGO:0018249.9TGFBR3, TGFBR1
4regulation of protein bindingGO:0433939.9TGFBR1, TGFBR3
5positive regulation of SMAD protein import into nucleusGO:0603919.8TGFBR1, TGFB1
6embryonic cranial skeleton morphogenesisGO:0487019.8TGFBR2, TGFBR1
7germ cell migrationGO:0083549.8TGFBR1, TGFB1
8lens development in camera-type eyeGO:0020889.8TGFBR2, TGFBR1
9common-partner SMAD protein phosphorylationGO:0071829.8TGFB1, TGFBR2
10body fluid secretionGO:0075899.7VIP, EDN1
11myeloid dendritic cell differentiationGO:0430119.7TGFB1, TGFBR2
12positive regulation of odontogenesisGO:0424829.7EDN1, TGFB1
13regulation of sensory perception of painGO:0519309.7VIP, EDN1
14palate developmentGO:0600219.6TGFBR1, TGFBR2, TGFBR3
15digestive tract developmentGO:0485659.6TGFB1, TGFBR2
16positive regulation of endothelial cell migrationGO:0105959.6EDN1, BMPR2
17positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.5TGFB1, TGFBR1, BMPR2
18response to cholesterolGO:0707239.5TGFB1, TGFBR1, TGFBR2
19heart developmentGO:0075079.5EDN1, TGFBR2, TGFBR1
20epithelial to mesenchymal transitionGO:0018379.4TGFB1, TGFBR1, TGFBR3
21peptidyl-threonine phosphorylationGO:0181079.4TGFBR2, TGFBR1
22mononuclear cell proliferationGO:0329439.4ACE, TGFB1
23positive regulation of bone mineralizationGO:0305019.4BMPR2, TGFB1
24regulation of vasoconstrictionGO:0192299.4EDN1, ACE
25organ regenerationGO:0311009.3TGFB1, TGFBR2, TGFBR3
26cell growthGO:0160499.2EDN1, TGFBR3, TGFB1
27in utero embryonic developmentGO:0017019.2TGFBR1, TGFBR2, EDN1
28response to hypoxiaGO:0016669.1TGFB1, TGFBR3, EDN1
29pathway-restricted SMAD protein phosphorylationGO:0603899.0TGFB1, TGFBR1, TGFBR2, TGFBR3
30negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.0TGFBR3, TGFBR2, TGFBR1, TGFB1
31transforming growth factor beta receptor signaling pathwayGO:0071799.0TGFBR3, TGFBR2, TGFBR1, TGFB1
32positive regulation of cell proliferationGO:0082848.4VIP, EDN1, TGFBR2, TGFBR1, TGFB1

Molecular functions related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan bindingGO:0055399.6TGFBR2, TGFBR3
2transmembrane receptor protein serine/threonine kinase activityGO:0046759.4TGFBR1, TGFBR2
3transforming growth factor beta bindingGO:0504319.3TGFBR3, TGFBR2, TGFBR1
4type II transforming growth factor beta receptor bindingGO:0051149.2TGFB1, TGFBR1, TGFBR3
5SMAD bindingGO:0463329.2TGFBR3, TGFBR2, TGFBR1
6transforming growth factor beta-activated receptor activityGO:0050249.0TGFBR1, TGFBR2, TGFBR3, BMPR2
7protein bindingGO:0055155.8VIP, BMPR2, EDN1, VWF, THBD, ACE

Products for genes affiliated with Eisenmenger Syndrome

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Sources for Eisenmenger Syndrome

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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