MCID: ESN011
MIFTS: 46

Eisenmenger Syndrome malady

Rare diseases, Respiratory diseases categories

Summaries for Eisenmenger Syndrome

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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 congenital heart disease. An important gene associated with Eisenmenger Syndrome is THBD (thrombomodulin), and among its related pathways are Complement and coagulation cascades and Formation of Fibrin Clot (Clotting Cascade). The compounds beraprost sodium and 11-dehydrothromboxane b2 have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Aliases & Classifications for Eisenmenger Syndrome

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44NIH Rare Diseases, 46Novoseek, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
eisenmenger syndrome:
Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Adult


Aliases & Descriptions:

eisenmenger syndrome 44 46 50


External Ids:

SNOMED-CT via Orphanet60 204311009, 445928005, 83130006
ICD10 via Orphanet27 I27.2

Related Diseases for Eisenmenger Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Eisenmenger Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension31.0EDN1, ACE, BMPR2
2congenital heart disease30.7EDN1, BMPR2
3primary pulmonary hypertension30.4BMPR2, THBD, EDN1
4vascular disease30.4VWF, THBD
5thromboembolism30.3VWF, THBD
6myocardial infarction30.0ACE, VWF, EDN1
7ventricular septal defect10.6
8patent ductus arteriosus10.3
9endotheliitis10.3
10blindness10.3
11tetralogy of fallot10.2
12oligohydramnios10.1ACE
13hepatorenal syndrome10.1EDN1
14collagen disease10.1THBD, VWF
15hemolytic-uremic syndrome10.1THBD, VWF
16hemorrhagic disease10.0THBD, VWF
17thrombotic thrombocytopenic purpura, acquired10.0THBD, VWF
18hemorrhagic thrombocythemia10.0THBD, VWF
19antiphospholipid syndrome10.0VWF, THBD
20thrombophilia10.0VWF, THBD
21peripheral vascular disease10.0ACE, VWF
22thrombocytosis10.0VWF, THBD
23venous thrombosis10.0THBD, VWF
24hyperhomocysteinemia10.0THBD, VWF
25angina pectoris10.0
26hemopneumothorax10.0
27central retinal vein occlusion10.0
28juvenile rheumatoid arthritis10.0
29inferior myocardial infarction10.0
30down syndrome10.0
31arthritis10.0
32hyperparathyroidism10.0
33intellectual disability10.0
34polycythemia10.0
35retinal vein occlusion10.0
36retinitis10.0
37rheumatoid arthritis10.0
38thalassemia10.0
39vaginitis10.0
40pulmonary vein stenosis10.0
41aneurysm10.0
42univentricular heart10.0
43chronic thromboembolic pulmonary hypertension10.0
44myeloproliferative disorder10.0VWF, THBD
45vasculitis10.0THBD, VWF
46diabetic angiopathy10.0THBD, EDN1
47renal hypertension10.0ACE, EDN1
48thrombocytopenia10.0THBD, VWF
49idiopathic edema10.0ACE, EDN1
50systemic scleroderma10.0ACE, EDN1

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



Diseases related to eisenmenger syndrome

Symptoms for Eisenmenger Syndrome

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Drugs & Therapeutics for Eisenmenger Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Eisenmenger Syndrome:

34
Heart, Lung, Endothelial, Brain, Testes

Animal Models for Eisenmenger Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Eisenmenger Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7ACE, THBD, EDN1
2MP:00053978.4VWF, THBD, ACE, BMPR2
3MP:00053878.4BMPR2, ACE, THBD, VWF
4MP:00053848.3VWF, THBD, ACE, BMPR2
5MP:00036317.8BMPR2, THBD, VWF, EDN1
6MP:00053857.7BMPR2, ACE, THBD, VWF, EDN1
7MP:00053767.7EDN1, VWF, THBD, ACE, BMPR2
8MP:00107687.6BMPR2, ACE, THBD, VWF, EDN1

Publications for Eisenmenger Syndrome

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53PubMed
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Articles related to Eisenmenger Syndrome:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
The exceptional and far-flung manifestations of heart failure in Eisenmenger syndrome. (24275297)
2014
2
Inflammatory markers are elevated in Eisenmenger syndrome. (23666048)
2013
3
Impact of sildenafil on survival of patients with Eisenmenger syndrome. (23553708)
2013
4
Clubbing, cyanosis and a new diagnosis of atrial septal defect in a parturient: a straightforward diagnosis of Eisenmenger syndrome? (23329721)
2013
5
Red blood cell distribution width predicts survival in patients with Eisenmenger syndrome. (24317786)
2013
6
Patent ductus arteriosus with Eisenmenger syndrome. (23583537)
2013
7
Paracardiac mass on chest X-ray in a patient with Eisenmenger syndrome. (23102605)
2013
8
Successful pregnancy and delivery in a woman with a single ventricle and Eisenmenger syndrome. (24198451)
2013
9
Eisenmenger syndrome in an adult patient with a large patent ductus arteriosus. (24293472)
2013
10
Six-minute walk test distance and resting oxygen saturations but not functional class predict outcome in adult patients with Eisenmenger syndrome. (23962785)
2013
11
Vaginal delivery in a patient of Eisenmenger syndrome. (23897525)
2012
12
Successful pregnancy outcome with eisenmenger syndrome. (23372294)
2012
13
Effects of inhaled iloprost on congenital heart disease with Eisenmenger syndrome. (22349672)
2012
14
The management of Eisenmenger syndrome in the modern treatment era: a case report. (22130823)
2011
15
Oral sildenafil treatment for Eisenmenger syndrome: a prospective, open-label, multicentre study. (21948962)
2011
16
Clinical efficacy of phosphodiesterase-5 inhibitor tadalafil in Eisenmenger syndrome--a randomized, placebo-controlled, double-blind crossover study. (21914136)
2011
17
The adult patient with eisenmenger syndrome: a medical update after dana point part I: epidemiology, clinical aspects and diagnostic options. (22043211)
2010
18
Combination therapy with bosentan and sildenafil in Eisenmenger syndrome: a randomized, placebo-controlled, double-blinded trial. (20202971)
2010
19
The Adult Patient with Eisenmenger Syndrome: A Medical Update after Dana Point Part II: Medical Treatment - Study Results. (22043212)
2010
20
The Adult Patient with Eisenmenger Syndrome: A Medical Update after Dana Point Part III: Specific Management and Surgical Aspects. (22043213)
2010
21
Therapeutic methods used in patients with Eisenmenger syndrome. (19950085)
2009
22
Down patients with Eisenmenger syndrome: is bosentan treatment an option? (18579234)
2009
23
Eisenmenger syndrome--a unique form of pulmonary arterial hypertension. (20196469)
2009
24
Clinical and hemodynamic picture of Eisenmenger syndrome. (20196474)
2009
25
Kinking of the main stem of the left coronary artery in the setting of Eisenmenger syndrome: an unusual cause of angina pectoris. (17953779)
2008
26
Superior vena cava obstruction due to markedly enlarged right pulmonary artery in Eisenmenger syndrome. (17088314)
2007
27
Adult patients with Eisenmenger syndrome report flying safely on commercial airlines. (17164484)
2007
28
Eisenmenger syndrome: towards identifying the risk factors for death. (16793920)
2006
29
Long-term behavior of endothelial and coagulation markers in Eisenmenger syndrome. (16708119)
2006
30
Update for nurse anesthetists. Eisenmenger syndrome: an anesthetic conundrum. (16786918)
2006
31
Initial experience with Bosentan therapy in patients with the Eisenmenger syndrome: Tetralogy of Fallot? (15670566)
2005
32
Use of long-term combined therapy with inhaled iloprost and oral sildenafil in an adult patient with eisenmenger syndrome. (16230890)
2005
33
Markers of endothelial dysfunction and severity of hypoxaemia in the Eisenmenger syndrome. (16164790)
2005
34
Initial experience with bosentan therapy in patients with the Eisenmenger syndrome. (15246919)
2004
35
Pulmonary thrombosis in adults with Eisenmenger syndrome. (14662263)
2003
36
Proximal pulmonary arterial and intrapulmonary radiologic features of Eisenmenger syndrome and primary pulmonary hypertension. (12860221)
2003
37
Heart-lung transplantation for Eisenmenger syndrome: early and long-term results. (11789765)
2001
38
Failure of medicine: evolution of an atrial septal defect to an Eisenmenger syndrome. (11041126)
2000
39
Eisenmenger syndrome in pregnancy. (11013476)
2000
40
Eisenmenger syndrome in adults]. (10321257)
1999
41
Noncardiac surgery in Eisenmenger syndrome. (9935034)
1999
42
The Eisenmenger syndrome. (9676063)
1998
43
Images in cardiovascular medicine. Huge dilatation of pulmonary arteries due To ventricular septal defect with the Eisenmenger syndrome. (8941151)
1996
44
Successful pulmonary resection after spontaneous hemopneumothorax in the Eisenmenger syndrome. (1877044)
1991
45
Improvement of exercise capacity after nifedipine in patients with Eisenmenger syndrome complicating ventricular septal defect. (1841020)
1991
46
The anaesthetic management of the Eisenmenger syndrome. (4004057)
1985
47
Eisenmenger syndrome--a clinical and haemodynamic study. (7169456)
1982
48
Eisenmenger syndrome in pregnancy: a possible cause of neonatal polycythemia and persistent fetal circulation. (7145258)
1982
49
Presentation and natural history of Eisenmenger syndrome. (5557481)
1971
50
Atresia of the left atrioventricular valve associated with corrected transposition of the great vessels. A cause of the Eisenmenger syndrome. (14403995)
1960

Variations for Eisenmenger Syndrome

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Expression for genes affiliated with Eisenmenger Syndrome

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 55R&D Systems
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Pathways related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
9.5THBD, VWF
2
Show member pathways
9.5THBD, VWF

Compounds for genes affiliated with Eisenmenger Syndrome

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46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB
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Compounds related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1beraprost sodium469.9THBD, VWF
211-dehydrothromboxane b2469.9THBD, VWF
3bisoprolol46 52 1211.8VWF, ACE
4fitc469.6THBD, VWF
5desmopressin46 62 30 1212.6THBD, VWF
6lacidipine469.5ACE, EDN1
7nebivolol46 1210.5ACE, EDN1
8tetramethylpyrazine469.5VWF, EDN1
9omapatrilat469.5EDN1, ACE
10cilazapril46 1210.5EDN1, ACE
11trandolapril46 1210.5EDN1, ACE
12isosorbide dinitrate46 52 1211.5ACE, EDN1
13enalaprilat469.5EDN1, ACE
14isradipine46 30 1211.5ACE, EDN1
15adma469.5EDN1, VWF
16chymostatin469.5ACE, EDN1
17thiorphan46 30 1211.5ACE, EDN1
18hydralazine46 52 1211.5EDN1, ACE
19valsartan46 62 30 1212.5EDN1, ACE
20atenolol46 52 30 25 1213.4ACE, EDN1
21irbesartan46 30 52 1212.4ACE, EDN1
22clopidogrel46 52 25 1212.4ACE, VWF
23perindopril46 52 1211.4ACE, THBD, VWF
24warfarin46 52 25 1212.4VWF, THBD, ACE
25kininogen469.4ACE, THBD, VWF
26fluvastatin46 52 30 1212.4ACE, THBD, VWF
27dihydropyridine469.4EDN1, ACE
28diltiazem46 30 52 1212.4ACE, EDN1
29enalapril46 52 1211.4ACE, EDN1
30aspirin46 52 30 2512.3ACE, THBD, VWF
31phosphoramidon46 1210.3EDN1, ACE
32carvedilol46 52 30 1212.3EDN1, ACE
33sildenafil30 46 52 25 1213.1ACE, EDN1
346-ketoprostaglandin f1alpha469.1THBD, VWF, EDN1
35txb2469.1THBD, VWF, EDN1
36thromboxane46 2510.1THBD, VWF, EDN1
37iloprost62 30 46 1212.1THBD, EDN1
38nifedipine46 30 52 1212.1EDN1, THBD, ACE
39quinapril46 52 1211.1EDN1, VWF, ACE
40histamine46 30 2511.0THBD, VWF, EDN1
41norepinephrine46 25 1210.9EDN1, VWF, ACE
428-isoprostane468.9THBD, EDN1
43acetylcholine46 52 30 25 1212.9ACE, VWF, EDN1
44cyclosporin a46 30 6210.7EDN1, VWF, THBD
45losartan46 52 30 1211.6ACE, THBD, VWF, EDN1
46atorvastatin46 52 30 25 1212.6ACE, THBD, VWF, EDN1
47prostacyclin468.6EDN1, VWF, THBD, ACE
48creatinine468.6EDN1, VWF, THBD, ACE
49arginine468.5EDN1, VWF, THBD, BMPR2
50nitric oxide46 25 1210.0EDN1, VWF, THBD, ACE, BMPR2

GO Terms for genes affiliated with Eisenmenger Syndrome

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17Gene Ontology
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Cellular components related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.1BMPR2, ACE, THBD, EDN1

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:0301959.3THBD, EDN1
2response to lipopolysaccharideGO:0324969.2THBD, EDN1
3regulation of vasoconstrictionGO:0192299.1ACE, EDN1
4blood vessel remodelingGO:0019749.0BMPR2, ACE
5positive regulation of endothelial cell migrationGO:0105958.9EDN1, BMPR2

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.5BMPR2, ACE, THBD, VWF, EDN1

Products for genes affiliated with Eisenmenger Syndrome

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Sources for Eisenmenger Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet