MCID: ESN011
MIFTS: 46

Eisenmenger Syndrome malady

Rare diseases, Respiratory diseases categories
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Summaries for Eisenmenger Syndrome

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 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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43NIH Rare Diseases, 45Novoseek, 49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 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):

49
eisenmenger syndrome:
Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Adult


Aliases & Descriptions:

eisenmenger syndrome 43 45 49


External Ids:

SNOMED-CT via Orphanet59 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 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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Eisenmenger Syndrome

Search NIH Clinical Center for Eisenmenger Syndrome

Genetic Tests for Eisenmenger Syndrome

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Anatomical Context for Eisenmenger Syndrome

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33MalaCards
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MalaCards organs/tissues related to Eisenmenger Syndrome:

33
Heart, Lung, Endothelial, Brain, Testes

Animal Models for Eisenmenger Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Eisenmenger Syndrome:

37
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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Sources:
52PubMed
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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, 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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50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 54R&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 Pathway38
Complement and Coagulation Cascades38
9.5THBD, VWF
2
Show member pathways
9.5THBD, VWF

Compounds for genes affiliated with Eisenmenger Syndrome

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45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1beraprost sodium459.9THBD, VWF
211-dehydrothromboxane b2459.9THBD, VWF
3bisoprolol45 51 1111.8VWF, ACE
4fitc459.6THBD, VWF
5desmopressin45 61 29 1112.6THBD, VWF
6lacidipine459.5ACE, EDN1
7nebivolol45 1110.5ACE, EDN1
8tetramethylpyrazine459.5VWF, EDN1
9omapatrilat459.5EDN1, ACE
10cilazapril45 1110.5EDN1, ACE
11trandolapril45 1110.5EDN1, ACE
12isosorbide dinitrate45 51 1111.5ACE, EDN1
13enalaprilat459.5EDN1, ACE
14isradipine45 29 1111.5ACE, EDN1
15adma459.5EDN1, VWF
16chymostatin459.5ACE, EDN1
17thiorphan45 29 1111.5ACE, EDN1
18hydralazine45 51 1111.5EDN1, ACE
19valsartan45 61 29 1112.5EDN1, ACE
20atenolol45 51 29 24 1113.4ACE, EDN1
21irbesartan45 29 51 1112.4ACE, EDN1
22clopidogrel45 51 24 1112.4ACE, VWF
23perindopril45 51 1111.4ACE, THBD, VWF
24warfarin45 51 24 1112.4VWF, THBD, ACE
25kininogen459.4ACE, THBD, VWF
26fluvastatin45 51 29 1112.4ACE, THBD, VWF
27dihydropyridine459.4EDN1, ACE
28diltiazem45 29 51 1112.4ACE, EDN1
29enalapril45 51 1111.4ACE, EDN1
30aspirin45 51 29 2412.3ACE, THBD, VWF
31phosphoramidon45 1110.3EDN1, ACE
32carvedilol45 51 29 1112.3EDN1, ACE
33sildenafil29 45 51 24 1113.1ACE, EDN1
346-ketoprostaglandin f1alpha459.1THBD, VWF, EDN1
35txb2459.1THBD, VWF, EDN1
36thromboxane45 2410.1THBD, VWF, EDN1
37iloprost61 29 45 1112.1THBD, EDN1
38nifedipine45 29 51 1112.1EDN1, THBD, ACE
39quinapril45 51 1111.1EDN1, VWF, ACE
40histamine45 29 2411.0THBD, VWF, EDN1
41norepinephrine45 24 1110.9EDN1, VWF, ACE
428-isoprostane458.9THBD, EDN1
43acetylcholine45 51 29 24 1112.9ACE, VWF, EDN1
44cyclosporin a45 29 6110.7EDN1, VWF, THBD
45losartan45 51 29 1111.6ACE, THBD, VWF, EDN1
46atorvastatin45 51 29 24 1112.6ACE, THBD, VWF, EDN1
47prostacyclin458.6EDN1, VWF, THBD, ACE
48creatinine458.6EDN1, VWF, THBD, ACE
49arginine458.5EDN1, VWF, THBD, BMPR2
50nitric oxide45 24 1110.0EDN1, VWF, THBD, ACE, BMPR2

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
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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet