MCID: ESN011
MIFTS: 44

Eisenmenger Syndrome malady

Respiratory category

Summaries for Eisenmenger Syndrome

Sources:
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 primary pulmonary hypertension and vascular disease. 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 brain, heart and lung, and related mouse phenotypes are endocrine/exocrine gland and muscle.

Aliases & Classifications for Eisenmenger Syndrome

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


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:

ICD10 via Orphanet26 I27.2

Related Diseases for Eisenmenger Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1primary pulmonary hypertension30.4TGFBR2, VIP, THBD, EDN1, BMPR2
2vascular disease30.2VWF, THBD
3adenoma30.0TGFBR2, TGFBR1, BMPR2
4arthritis30.0VIP, TGFB1
5adult syndrome10.7
6n syndrome10.6
7ventricular septal defect10.5
8patent ductus arteriosus10.3
9mass syndrome10.2
10superior vena cava syndrome10.2
11image syndrome10.2
12angina pectoris10.0
13persistent fetal circulation syndrome10.0
14hemopneumothorax10.0
15central retinal vein occlusion10.0
16juvenile rheumatoid arthritis10.0
17septal myocardial infarction10.0
18inferior myocardial infarction10.0
19conn's syndrome10.0
20arc syndrome10.0
21acute pulmonary heart disease10.0
22thalassemia10.0
23short syndrome10.0
24aortic coarctation10.0
25bod syndrome10.0
26pulmonary vein stenosis10.0
27pulmonary function10.0
28univentricular heart10.0
29chronic thromboembolic pulmonary hypertension10.0
30lupus erythematosus10.0THBD
31eclampsia10.0THBD
32uremia10.0VWF
33intermittent claudication10.0VWF
34hypothyroidism10.0VWF
35hellp syndrome10.0VWF
36disseminated intravascular coagulation10.0THBD
37leiomyoma10.0TGFBR2
38polycythemia vera10.0THBD
39hepatopulmonary syndrome10.0EDN1
40allergic rhinitis10.0VIP
41migraine10.0VIP
42rhinitis10.0VIP
43acromegaly10.0VIP
44diarrhea10.0VIP
45endometrial carcinoma10.0TGFBR2
46cystic fibrosis10.0VIP
47psoriasis10.0VIP
48thromboembolism10.0THBD, VWF
49pancreatitis10.0TGFB1
50inflammatory bowel disease10.0TGFB1

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



Diseases related to eisenmenger syndrome

Clinical Features for Eisenmenger Syndrome

Drugs & Therapeutics for Eisenmenger Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Eisenmenger Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Eisenmenger Syndrome:

33
Brain, Heart, Lung, B cells, Endothelial, Fetal brain, Fetal lung

Animal Models for Eisenmenger Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Eisenmenger Syndrome

Sources:
51PubMed
See all sources

Articles related to Eisenmenger Syndrome:

(show top 50)    (show all 209)
idTitleAuthorsYear
1
Successful pregnancy and delivery in a woman with a single ventricle and Eisenmenger syndrome. (24198451)
2013
2
Hypertrophic osteoarthropathy in Eisenmenger syndrome. (22309158)
2013
3
Effects of inhaled iloprost on exercise capacity, quality of life, and cardiac function in patients with pulmonary arterial hypertension secondary to congenital heart disease (the Eisenmenger syndrome) (from the EIGER Study). (24012036)
2013
4
Successful pregnancy outcome with eisenmenger syndrome. (23372294)
2012
5
Effects of inhaled iloprost on congenital heart disease with Eisenmenger syndrome. (22349672)
2012
6
Eisenmenger syndrome complicated by pulmonary artery dissection. (22215497)
2012
7
Eisenmenger syndrome: not always inoperable. (22348268)
2012
8
Does anticoagulation in Eisenmenger syndrome impact long-term survival? (22360787)
2012
9
Simulation of Eisenmenger syndrome with ventricular septal defect using equivalent electronic system. (21943881)
2012
10
Comparative efficacy of sildenafil in Eisenmenger's syndrome secondary to atrial septal defect versus ventricular septal defect: a cardiac catheterisation follow-up study. (21729508)
2011
11
Effects of pulmonary vasodilator therapy on ventilatory efficiency during exercise in adults with Eisenmenger syndrome. (21418531)
2011
12
Combination therapy with bosentan and sildenafil in Eisenmenger syndrome: a randomized, placebo-controlled, double-blinded trial. (20202971)
2010
13
Eisenmenger syndrome due to a large ductus arteriosus. (21147447)
2010
14
Extrinsic compression of the left coronary ostium by the pulmonary trunk: management in a case of Eisenmenger syndrome. (20200637)
2010
15
Use of remifentanil in a patient with Eisenmenger syndrome requiring urgent cesarean section. (20394258)
2010
16
Therapeutic methods used in patients with Eisenmenger syndrome. (19950085)
2009
17
Clinical and hemodynamic picture of Eisenmenger syndrome. (20196474)
2009
18
Eisenmenger syndrome and juvenile rheumatoid arthritis--a case of double diagnosis. (20054770)
2009
19
Eisenmenger syndrome a clinical perspective in a new therapeutic era of pulmonary arterial hypertension. (19245962)
2009
20
Advanced pulmonary vascular disease: the Eisenmenger syndrome. (19419605)
2009
21
Advanced pulmonary vascular disease: the Eisenmenger syndrome. (19825249)
2009
22
Kinking of the main stem of the left coronary artery in the setting of Eisenmenger syndrome: an unusual cause of angina pectoris. (17953779)
2008
23
Longer-term bosentan therapy improves functional capacity in Eisenmenger syndrome: results of the BREATHE-5 open-label extension study. (17658633)
2008
24
Endothelin receptor antagonists improve exercise tolerance and oxygen saturations in patients with Eisenmenger syndrome and congenital heart defects. (18941642)
2008
25
Eisenmenger syndrome secondary to patent ductus arterious. Contribution of three-dimensional echocardiography. (16673654)
2006
26
SIR 2005 Annual Meeting Film Panel Case: hemoptysis and bronchial artery embolization in an adult with uncorrected truncus arteriosus and Eisenmenger syndrome. (15872317)
2005
27
Pulmonary neovascularity: a distinctive radiographic finding in Eisenmenger syndrome. (16267251)
2005
28
Fatal Salmonella pulmonary arteritis in a patient with Eisenmenger syndrome. (15655765)
2005
29
Pulmonary artery dissection in a patient with Eisenmenger syndrome treated with heart and lung transplantation. (15147666)
2004
30
Pulmonary thrombosis in adults with Eisenmenger syndrome. (14662263)
2003
31
Heart-lung or lung transplantation for Eisenmenger syndrome. (12100899)
2002
32
Severe pulmonary hypertension without right ventricular failure: the unique hearts of patients with Eisenmenger syndrome. (11779519)
2002
33
Bilateral central retinal vein occlusion in Eisenmenger syndrome. (11476697)
2001
34
Residual pulmonary vasoreactivity to inhaled nitric oxide in patients with severe obstructive pulmonary hypertension and Eisenmenger syndrome. (11602551)
2001
35
Nocturnal oxygen therapy in patients with the Eisenmenger syndrome. (11719310)
2001
36
Eisenmenger syndrome in adults]. (10321257)
1999
37
Noncardiac surgery in Eisenmenger syndrome. (9935034)
1999
38
Favorable response of Eisenmenger syndrome to inhaled nitric oxide during pregnancy. (9914580)
1999
39
How to manage the Eisenmenger syndrome. (9482138)
1998
40
Airway structure and function in Eisenmenger's syndrome. (9769288)
1998
41
Images in cardiovascular medicine. Huge dilatation of pulmonary arteries due To ventricular septal defect with the Eisenmenger syndrome. (8941151)
1996
42
Comparison of the hemodynamics and survival of adults with severe primary pulmonary hypertension or Eisenmenger syndrome. (8820089)
1996
43
Suicide right ventricle after lung transplantation for Eisenmenger syndrome. (7695431)
1995
44
Prognosis for patients with Eisenmenger syndrome of various aetiology. (7960265)
1994
45
Eisenmenger syndrome--a clinical and haemodynamic study. (7169456)
1982
46
Eisenmenger syndrome--anesthetic management for labour and delivery: a case report. (307657)
1978
47
The Eisenmenger syndrome and pregnancy. (5254190)
1968
48
The Eisenmenger syndrome. (6020789)
1967
49
The Eisenmenger syndrome. (6073906)
1967
50
The Eisenmenger syndrome or pulmonary hypertension with reversed central shunt. I. (13572874)
1958

Genetic Variations for Eisenmenger Syndrome

Expression for genes affiliated with Eisenmenger Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 54Reactome, 53R&D Systems, 60Tocris Bioscience, 12EMD Millipore, 4Cell Signaling Technology, 50PharmGKB, 56SinoBiological
See all sources

Pathways related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

(show all 46)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1TGFBR1
210.1TGFBR1
3
Hide members
10.1BMPR2
4
Hide members
10.1TGFBR2
510.0TGFBR3
6
Hide members
9.9THBD, VWF
79.7TGFBR2, TGFBR1
89.7TGFBR2, TGFBR1
9
Hide members
9.5TGFBR1, TGFB1
109.3TGFBR1, TGFBR2, BMPR2
11
Hide members
9.3TGFBR1, TGFBR2, TGFBR3
12
Hide members
9.3TGFBR3, TGFBR2, TGFBR1
13
Hide members
9.2TGFBR3, ACE
149.1BMPR2, TGFBR1, TGFB1
15
Transcription Androgen Receptor nuclear signaling
Hide members
9.1TGFBR2, TGFBR1, TGFB1
16
Cell cycle Cell cycle (generic schema)
Hide members
9.1TGFBR2, TGFBR1, TGFB1
179.1TGFBR2, TGFBR1, TGFB1
18
Hide members
9.1TGFBR2, TGFBR1, TGFB1
19
Hide members
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
Hide members
9.1TGFB1, TGFBR1, TGFBR2
25
Hide members
9.1TGFB1, TGFBR1, TGFBR2
269.1TGFB1, TGFBR1, TGFBR2
27
Hide members
9.1TGFB1, TGFBR1, TGFBR2
28
Hide members
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
Hide members
8.6TGFBR3, TGFBR2, TGFBR1, TGFB1
378.6TGFBR3, TGFBR2, TGFBR1, TGFB1
38
Hide members
8.6TGFB1, TGFBR1, TGFBR2, TGFBR3
39
Hide members
8.6TGFB1, TGFBR1, TGFBR2, TGFBR3
40
Hide members
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

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Eisenmenger Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.5VWF
2matrigel4510.5TGFBR1
3pge14510.4THBD
4norepinephrine45 11 2412.2VIP
5beraprost sodium4510.1VWF, THBD
6captopril45 29 50 60 1113.8VIP, EDN1
76-ketoprostaglandin f1alpha459.8VWF, EDN1, THBD
8txb2459.7VWF, THBD, EDN1
9thromboxane45 2410.7THBD, EDN1, VWF
10kininogen459.7ACE, VWF
11tetramethylpyrazine459.5EDN1, VWF
12betacarotene459.5TGFB1, THBD, VWF
13aprotinin45 1110.5VIP, THBD, VWF
14sildenafil45 50 29 11 2413.5TGFB1, ACE
15adp45 29 2411.5BMPR2, TGFBR1
16methoxamine29 45 1111.4VIP, EDN1
17lacidipine459.4ACE, EDN1
18quinapril45 1110.2EDN1, VWF, ACE
19tetracycline45 1110.2TGFB1, TGFBR2, VWF
20agarose459.2VWF, TGFB1, TGFBR2, THBD
21nebivolol45 1110.2EDN1, ACE
22cyclosporin a45 29 6011.2TGFBR2, THBD, EDN1, VIP
23creatinine459.1TGFB1, THBD, ACE
24thyroxine45 2410.1THBD, TGFB1, VWF, VIP
25thiorphan45 29 1111.0EDN1, VIP, ACE
26polyethylene glycol459.0THBD, VIP, TGFB1
27metformin45 50 1111.0TGFB1, ACE, VWF
28enalapril45 50 1111.0ACE, VIP, EDN1
29serine459.0TGFBR1, VIP, TGFB1, BMPR2
30dexamethasone45 50 29 1112.0VIP, TGFBR2, TGFB1, TGFBR1
31phosphoramidon45 1110.0EDN1, VIP, ACE
32dihydrotestosterone45 29 11 2412.0VIP, TGFB1, TGFBR1, TGFBR2
33nitroglycerin45 1110.0ACE, EDN1, VIP
34sodium nitroprusside458.9VWF, EDN1, VIP, TGFB1
35ang ii458.9ACE, TGFB1, EDN1
36perindopril45 50 1110.9THBD, VWF, TGFB1, ACE
37oligonucleotide458.8TGFBR1, VWF, TGFB1, TGFBR2, THBD
38aspirin45 50 29 2411.8ACE, THBD, TGFB1, VWF
39arginine458.7BMPR2, VWF, EDN1, VIP, THBD
40histamine45 29 2410.6TGFB1, THBD, VWF, VIP, EDN1
41tyrosine458.6TGFBR2, VIP, BMPR2, TGFBR1, VWF, THBD
42acetylcholine45 50 29 11 2412.5VIP, VWF, EDN1, ACE
43threonine458.4TGFB1, TGFBR1, BMPR2, TGFBR2, TGFBR3
44prostacyclin458.4VIP, EDN1, ACE, VWF, THBD
45verapamil45 50 29 11 2412.4TGFB1, ACE, EDN1, VIP
46alanine458.4TGFB1, TGFBR1, VWF, VIP, THBD, TGFBR2
47losartan45 50 29 1111.3THBD, ACE, TGFB1, VWF, EDN1
48nitric oxide45 11 2410.2VIP, VWF, THBD, BMPR2, ACE, TGFBR2
49nifedipine45 50 29 1111.1TGFB1, VIP, ACE, THBD, EDN1
50vegf457.9EDN1, TGFB1, TGFBR1, TGFBR2, VWF, VIP

GO Terms for genes affiliated with Eisenmenger Syndrome

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Eisenmenger Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet