MCID: ESN011
MIFTS: 40

Eisenmenger Syndrome malady

Rare diseases, Respiratory diseases categories

Summaries for Eisenmenger Syndrome

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NIH Rare Diseases:41 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 based summary: Eisenmenger Syndrome, also known as eisenmenger complex, is related to congenital heart disease and pulmonary hypertension. 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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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

Eisenmenger Syndrome, Aliases & Descriptions:

Name: Eisenmenger Syndrome 41 43 47
 
Eisenmenger Complex 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
eisenmenger syndrome:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Belgium),1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult


External Ids:

Orphanet47 97214
ICD10 via Orphanet26 I27.2

Related Diseases for Eisenmenger Syndrome

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Diseases related to Eisenmenger Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.8BMPR2, EDN1
2pulmonary hypertension30.8BMPR2, THBD, EDN1
3vascular disease30.6VWF, THBD
4myocardial infarction29.8ACE, VWF, EDN1
5ventricular septal defect10.6
6patent ductus arteriosus10.4
7oligohydramnios10.4ACE
8endotheliitis10.4
9blindness10.3
10hepatorenal syndrome10.3EDN1
11collagen disease10.2THBD, VWF
12hemolytic-uremic syndrome10.2THBD, VWF
13hemorrhagic disease10.2VWF, THBD
14thrombotic thrombocytopenic purpura, acquired10.2VWF, THBD
15thrombophilia due to activated protein c resistance10.2THBD, VWF
16factor v leiden thrombophilia10.2THBD, VWF
17tetralogy of fallot10.2
18truncus arteriosus10.2
19essential thrombocythemia10.2THBD, VWF
20antiphospholipid syndrome10.2THBD, VWF
21peripheral vascular disease10.2VWF, ACE
22thrombophilia10.2VWF, THBD
23thrombocytosis10.2THBD, VWF
24thrombophilia due to thrombin defect10.2THBD, VWF
25atrial fibrillation10.2ACE, VWF
26hyperhomocysteinemia10.1VWF, THBD
27bone marrow cancer10.1VWF, THBD
28vasculitis10.1VWF, THBD
29diabetic angiopathy10.1EDN1, THBD
30renal hypertension10.1EDN1, ACE
31thrombocytopenia10.1VWF, THBD
32idiopathic edema10.1ACE, EDN1
33rheumatoid arthritis10.1
34angina pectoris10.1
35arthritis10.1
36retinal vein occlusion10.1
37thalassemia10.1
38hemopneumothorax10.1
39central retinal vein occlusion10.1
40juvenile rheumatoid arthritis10.1
41inferior myocardial infarction10.1
42down syndrome10.1
43hyperparathyroidism10.1
44polycythemia10.1
45retinitis10.1
46syndromic intellectual disability10.1
47vaginitis10.1
48pulmonary artery agenesis10.1
49pulmonary vein stenosis10.1
50aneurysm10.1

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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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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MalaCards organs/tissues related to Eisenmenger Syndrome:

31
Heart, Lung, Endothelial, Brain, Testes

Animal Models for Eisenmenger Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Eisenmenger Syndrome:

35
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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Articles related to Eisenmenger Syndrome:

(show top 50)    (show all 221)
idTitleAuthorsYear
1
The exceptional and far-flung manifestations of heart failure in Eisenmenger syndrome. (24275297)
2014
2
Effect of bosentan therapy on ventricular and atrial function in adults with Eisenmenger syndrome. A prospective, multicenter study using conventional and Speckle tracking echocardiography. (24682249)
2014
3
Survival in Eisenmenger syndrome: a paradigm shift in outcomes research for adult congenital heart disease? (25099648)
2014
4
Inflammatory markers are elevated in Eisenmenger syndrome. (23666048)
2013
5
Impact of sildenafil on survival of patients with Eisenmenger syndrome. (23553708)
2013
6
Clubbing, cyanosis and a new diagnosis of atrial septal defect in a parturient: a straightforward diagnosis of Eisenmenger syndrome? (23329721)
2013
7
Red blood cell distribution width predicts survival in patients with Eisenmenger syndrome. (24317786)
2013
8
Patent ductus arteriosus with Eisenmenger syndrome. (23583537)
2013
9
Paracardiac mass on chest X-ray in a patient with Eisenmenger syndrome. (23102605)
2013
10
Successful pregnancy and delivery in a woman with a single ventricle and Eisenmenger syndrome. (24198451)
2013
11
Eisenmenger syndrome in an adult patient with a large patent ductus arteriosus. (24293472)
2013
12
Six-minute walk test distance and resting oxygen saturations but not functional class predict outcome in adult patients with Eisenmenger syndrome. (23962785)
2013
13
Vaginal delivery in a patient of Eisenmenger syndrome. (23897525)
2012
14
Successful pregnancy outcome with eisenmenger syndrome. (23372294)
2012
15
Effects of inhaled iloprost on congenital heart disease with Eisenmenger syndrome. (22349672)
2012
16
The management of Eisenmenger syndrome in the modern treatment era: a case report. (22130823)
2011
17
Oral sildenafil treatment for Eisenmenger syndrome: a prospective, open-label, multicentre study. (21948962)
2011
18
The adult patient with eisenmenger syndrome: a medical update after dana point part I: epidemiology, clinical aspects and diagnostic options. (22043211)
2010
19
Combination therapy with bosentan and sildenafil in Eisenmenger syndrome: a randomized, placebo-controlled, double-blinded trial. (20202971)
2010
20
The Adult Patient with Eisenmenger Syndrome: A Medical Update after Dana Point Part II: Medical Treatment - Study Results. (22043212)
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
Eisenmenger syndrome: identifying the clues for arrhythmia. (18258531)
2008
26
Kinking of the main stem of the left coronary artery in the setting of Eisenmenger syndrome: an unusual cause of angina pectoris. (17953779)
2008
27
Superior vena cava obstruction due to markedly enlarged right pulmonary artery in Eisenmenger syndrome. (17088314)
2007
28
Adult patients with Eisenmenger syndrome report flying safely on commercial airlines. (17164484)
2007
29
Eisenmenger syndrome: towards identifying the risk factors for death. (16793920)
2006
30
Long-term behavior of endothelial and coagulation markers in Eisenmenger syndrome. (16708119)
2006
31
Update for nurse anesthetists. Eisenmenger syndrome: an anesthetic conundrum. (16786918)
2006
32
Initial experience with Bosentan therapy in patients with the Eisenmenger syndrome: Tetralogy of Fallot? (15670566)
2005
33
Use of long-term combined therapy with inhaled iloprost and oral sildenafil in an adult patient with eisenmenger syndrome. (16230890)
2005
34
Markers of endothelial dysfunction and severity of hypoxaemia in the Eisenmenger syndrome. (16164790)
2005
35
Initial experience with bosentan therapy in patients with the Eisenmenger syndrome. (15246919)
2004
36
Pulmonary thrombosis in adults with Eisenmenger syndrome. (14662263)
2003
37
Proximal pulmonary arterial and intrapulmonary radiologic features of Eisenmenger syndrome and primary pulmonary hypertension. (12860221)
2003
38
Heart-lung transplantation for Eisenmenger syndrome: early and long-term results. (11789765)
2001
39
Failure of medicine: evolution of an atrial septal defect to an Eisenmenger syndrome. (11041126)
2000
40
Eisenmenger syndrome in pregnancy. (11013476)
2000
41
Eisenmenger syndrome in adults]. (10321257)
1999
42
Noncardiac surgery in Eisenmenger syndrome. (9935034)
1999
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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Search GEO for disease gene expression data for Eisenmenger Syndrome.

Pathways for genes affiliated with Eisenmenger Syndrome

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Pathways related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
9.5THBD, VWF
2
Show member pathways
9.5THBD, VWF

Compounds for genes affiliated with Eisenmenger Syndrome

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Compounds related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1beraprost sodium439.9VWF, THBD
211-dehydrothromboxane b2439.9VWF, THBD
3bisoprolol43 49 1211.8ACE, VWF
4fitc439.6THBD, VWF
5desmopressin43 59 28 1212.6VWF, THBD
6lacidipine439.5EDN1, ACE
7tetramethylpyrazine439.5EDN1, VWF
8nebivolol43 1210.5EDN1, ACE
9trandolapril43 1210.5ACE, EDN1
10cilazapril43 1210.5EDN1, ACE
11omapatrilat439.5ACE, EDN1
12isosorbide dinitrate43 49 1211.5EDN1, ACE
13enalaprilat439.5ACE, EDN1
14isradipine43 28 1211.5EDN1, ACE
15adma439.5VWF, EDN1
16chymostatin439.5EDN1, ACE
17thiorphan43 28 1211.5EDN1, ACE
18valsartan43 59 28 1212.5ACE, EDN1
19hydralazine43 49 1211.5EDN1, ACE
20atenolol43 49 28 24 1213.4EDN1, ACE
21irbesartan43 28 49 1212.4ACE, EDN1
22clopidogrel43 49 24 1212.4VWF, ACE
23perindopril43 49 1211.4ACE, VWF, THBD
24warfarin43 49 24 1212.4VWF, ACE, THBD
25kininogen439.4VWF, THBD, ACE
26fluvastatin43 49 28 1212.4ACE, VWF, THBD
27dihydropyridine439.4ACE, EDN1
28diltiazem43 28 49 1212.4EDN1, ACE
29enalapril43 49 1211.4ACE, EDN1
30aspirin43 49 28 2412.3VWF, ACE, THBD
31carvedilol43 49 28 1212.3ACE, EDN1
32phosphoramidon43 1210.3EDN1, ACE
33sildenafil28 43 49 24 1213.1EDN1, ACE
346-ketoprostaglandin f1alpha439.1VWF, EDN1, THBD
35txb2439.1VWF, EDN1, THBD
36thromboxane43 2410.1EDN1, THBD, VWF
37iloprost59 28 43 1212.1EDN1, THBD
38nifedipine43 28 49 1212.1ACE, EDN1, THBD
39quinapril43 49 1211.1EDN1, ACE, VWF
40histamine43 28 2411.0EDN1, VWF, THBD
41norepinephrine43 24 1210.9ACE, VWF, EDN1
428-isoprostane438.9EDN1, THBD
43acetylcholine43 49 28 24 1212.9VWF, ACE, EDN1
44cyclosporin a43 28 5910.7THBD, VWF, EDN1
45losartan43 49 28 1211.6EDN1, THBD, ACE, VWF
46atorvastatin43 49 28 24 1212.6EDN1, VWF, THBD, ACE
47prostacyclin438.6EDN1, VWF, THBD, ACE
48creatinine438.6THBD, EDN1, VWF, ACE
49arginine438.5THBD, EDN1, BMPR2, VWF
50nitric oxide43 24 1210.0VWF, EDN1, THBD, ACE, BMPR2

GO Terms for genes affiliated with Eisenmenger Syndrome

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Cellular components related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.1BMPR2, ACE, THBD, EDN1

Biological processes related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of blood coagulationGO:00301959.3THBD, EDN1
2response to lipopolysaccharideGO:00324969.2THBD, EDN1
3regulation of vasoconstrictionGO:00192299.1ACE, EDN1
4blood vessel remodelingGO:00019749.0BMPR2, ACE
5positive regulation of endothelial cell migrationGO:00105958.9EDN1, BMPR2

Molecular functions related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055157.5BMPR2, ACE, THBD, VWF, EDN1

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet