MCID: ESN011
MIFTS: 50

Eisenmenger Syndrome

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Eisenmenger Syndrome

MalaCards integrated aliases for Eisenmenger Syndrome:

Name: Eisenmenger Syndrome 53 59 55
Eisenmenger Complex 73

Characteristics:

Orphanet epidemiological data:

59
eisenmenger syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Belgium),1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Orphanet 59 ORPHA97214
UMLS via Orphanet 74 C0013743
ICD10 via Orphanet 34 I27.2
UMLS 73 C0013743

Summaries for Eisenmenger Syndrome

NIH Rare Diseases : 53 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).

MalaCards based summary : Eisenmenger Syndrome, also known as eisenmenger complex, is related to ventricular septal defect and pulmonary hypertension, primary, 1. An important gene associated with Eisenmenger Syndrome is THBD (Thrombomodulin), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and Human Embryonic Stem Cell Pluripotency. The drugs Bosentan and Endothelin Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Eisenmenger''s syndrome (or ES, Eisenmenger''s reaction, Eisenmenger physiology, or tardive cyanosis) is... more...

Related Diseases for Eisenmenger Syndrome

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 30.8 CITED2 GATA4 NKX2-5
2 pulmonary hypertension, primary, 1 30.8 BMPR2 EDN1 THBD
3 thrombosis 30.1 PLAT THBD VWF
4 pulmonary hypertension 30.1 BMPR2 EDN1 PLAT THBD VIP VWF
5 tetralogy of fallot 30.0 CITED2 EDN1 GATA4 NKX2-5
6 heart disease 30.0 BMPR2 CITED2 EDN1 GATA4 NKX2-5 PLAT
7 chronic thromboembolic pulmonary hypertension 30.0 BMPR2 EDN1
8 angina pectoris 29.7 EDN1 PLAT VWF
9 vascular disease 29.6 BMPR2 EDN1 PLAT THBD VWF
10 myocardial infarction 29.3 EDN1 GATA4 PLAT THBD VWF
11 atrial heart septal defect 10.3
12 patent ductus arteriosus 1 10.3
13 unilateral absence of a pulmonary artery 10.2 THBD VWF
14 heart septal defect 10.1 CITED2 GATA4 NKX2-5
15 raynaud disease 10.1 EDN1 VWF
16 atrioventricular septal defect 10.1 EDN1 GATA4 NKX2-5
17 raynaud phenomenon 10.1 EDN1 THBD VWF
18 diabetic angiopathy 10.1 EDN1 THBD VWF
19 mercury poisoning 10.1 PLAT THBD
20 postaxial acrofacial dysostosis 10.1 PLAT THBD
21 down syndrome 10.1
22 aortopulmonary window 10.1
23 hepatopulmonary syndrome 10.1 BMPR2 EDN1 VWF
24 char syndrome 10.1 CITED2 NKX2-5 TGFBR2
25 familial thoracic aortic aneurysm and dissection 10.1 TGFBR1 TGFBR2
26 hellp syndrome 10.1 EDN1 THBD VWF
27 ebstein anomaly 10.0 GATA4 NKX2-5
28 chronic pulmonary heart disease 10.0 BMPR2 EDN1
29 platelet aggregation, spontaneous 10.0 PLAT VWF
30 portal hypertension 10.0 BMPR2 EDN1 VWF
31 transient hypogammaglobulinemia 10.0 TGFBR1 TGFBR2
32 cutis laxa, autosomal recessive, type ic 10.0 TGFBR1 TGFBR2
33 loeys-dietz syndrome 4 10.0 TGFBR1 TGFBR2
34 marantic endocarditis 10.0 PLAT THBD
35 grange syndrome 10.0 PLAT THBD VWF
36 multiple self-healing squamous epithelioma 10.0 TGFBR1 TGFBR2
37 thrombophilia due to activated protein c resistance 10.0 PLAT THBD VWF
38 paraganglioma 10.0
39 thrombophilia due to thrombin defect 10.0 PLAT THBD VWF
40 antiphospholipid syndrome 10.0 PLAT THBD VWF
41 peripheral vascular disease 10.0 PLAT THBD VWF
42 hemorrhagic disease 10.0 PLAT THBD VWF
43 patent foramen ovale 9.9 CITED2 GATA4 NKX2-5 PLAT
44 heritable pulmonary arterial hypertension 9.9 BMPR2 TGFB1
45 acute myocardial infarction 9.9 EDN1 PLAT VWF
46 coronary heart disease 1 9.9 EDN1 PLAT VWF
47 chronic active epstein-barr virus infection 9.9 TGFB1 THBD
48 arteries, anomalies of 9.8 BMPR2 EDN1 PLAT VWF
49 coarctation of aorta 9.8
50 rheumatoid arthritis 9.8

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



Diseases related to Eisenmenger Syndrome

Symptoms & Phenotypes for Eisenmenger Syndrome

GenomeRNAi Phenotypes related to Eisenmenger Syndrome according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.88 GATA4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.88 CITED2 GATA4 TGFBR1 TGFBR2 TGFBR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.88 TGFBR2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.88 TGFBR2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.88 GATA4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.88 TGFBR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.88 TGFBR2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.88 TGFBR1 TGFBR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.88 TGFBR2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.88 CITED2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.88 TGFBR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.88 TGFBR2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.88 TGFBR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.88 TGFBR3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.88 TGFBR2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.88 TGFBR2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.88 TGFBR2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.88 TGFBR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.88 TGFBR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.88 TGFBR2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.88 CITED2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 CITED2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.88 TGFBR3
24 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.88 CITED2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.88 TGFBR2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.88 TGFBR3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.88 TGFBR2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.88 TGFBR2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.88 TGFBR1 TGFBR3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.88 TGFBR1

MGI Mouse Phenotypes related to Eisenmenger Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.37 BMPR2 CITED2 EDN1 GATA4 NKX2-5 PLAT
2 cellular MP:0005384 10.25 BMPR2 GATA4 NKX2-5 PLAT TGFB1 TGFBR1
3 digestive/alimentary MP:0005381 10.22 CITED2 EDN1 GATA4 NKX2-5 PLAT TGFB1
4 homeostasis/metabolism MP:0005376 10.21 BMPR2 CITED2 EDN1 GATA4 NKX2-5 PLAT
5 hematopoietic system MP:0005397 10.2 BMPR2 CITED2 GATA4 NKX2-5 PLAT TGFB1
6 growth/size/body region MP:0005378 10.18 BMPR2 CITED2 EDN1 GATA4 NKX2-5 PLAT
7 mortality/aging MP:0010768 10.18 BMPR2 CITED2 EDN1 GATA4 NKX2-5 PLAT
8 embryo MP:0005380 10.16 BMPR2 CITED2 EDN1 GATA4 NKX2-5 TGFB1
9 endocrine/exocrine gland MP:0005379 10.15 CITED2 EDN1 GATA4 NKX2-5 PLAT TGFB1
10 immune system MP:0005387 10.14 BMPR2 CITED2 NKX2-5 PLAT TGFB1 TGFBR1
11 craniofacial MP:0005382 10.01 CITED2 EDN1 NKX2-5 PLAT TGFB1 TGFBR2
12 nervous system MP:0003631 10 BMPR2 CITED2 EDN1 GATA4 NKX2-5 PLAT
13 muscle MP:0005369 9.97 BMPR2 EDN1 GATA4 NKX2-5 PLAT TGFB1
14 normal MP:0002873 9.81 BMPR2 CITED2 EDN1 GATA4 NKX2-5 TGFBR1
15 respiratory system MP:0005388 9.65 BMPR2 CITED2 GATA4 NKX2-5 PLAT TGFB1
16 skeleton MP:0005390 9.28 BMPR2 CITED2 EDN1 GATA4 PLAT TGFB1

Drugs & Therapeutics for Eisenmenger Syndrome

Drugs for Eisenmenger Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3 147536-97-8 104865
2 Endothelin Receptor Antagonists Phase 4,Phase 3
3 Antihypertensive Agents Phase 4,Phase 3,Not Applicable
4
Macitentan Approved Phase 3 441798-33-0
5
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 77-92-9 311
6 Vasodilator Agents Phase 3,Phase 2,Phase 1,Not Applicable
7 Sildenafil Citrate Phase 3,Phase 1,Phase 2 171599-83-0
8 Citrate Phase 3,Phase 1,Phase 2
9 Phosphodiesterase 5 Inhibitors Phase 3,Phase 2,Phase 1
10 Phosphodiesterase Inhibitors Phase 3,Phase 2,Phase 1
11 Endothelin A Receptor Antagonists Phase 3
12
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
13
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
14 Platelet Aggregation Inhibitors Phase 1, Phase 2,Not Applicable
15 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
16 Cardiotonic Agents Phase 1, Phase 2
17 Protective Agents Phase 1, Phase 2
18
Iloprost Approved, Investigational ,Not Applicable 78919-13-8 6443959
19
Iron Approved 7439-89-6 23925
20
Allopurinol Approved 315-30-0 2094
21 Selexipag Approved 475086-01-2
22
Ambrisentan Approved, Investigational 177036-94-1 6918493
23
Epoprostenol Approved ,Not Applicable 61849-14-7, 35121-78-9 5280427 5282411
24
Treprostinil Approved, Investigational 81846-19-7 54786 6918140
25 Tezosentan Investigational Not Applicable 180384-57-0
26 diuretics
27 Anticoagulants
28 Anti-Bacterial Agents
29 Vaccines
30 Antibiotics, Antitubercular
31 Angiotensin-Converting Enzyme Inhibitors
32 Imatinib Mesylate 220127-57-1 123596

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
2 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
3 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
4 Combination Treatment With Bosentan and Sildenafil to Patients With Eisenmengers Syndrome Completed NCT00303004 Phase 3 Bosentan and Sildenafil
5 Clinical Study to Evaluate the Effects of Macitentan on Exercise Capacity in Subjects With Eisenmenger Syndrome Completed NCT01743001 Phase 3 Macitentan 10 mg;Placebo
6 Clinical Study to Assess the Long-term Safety, Tolerability, and Efficacy of Macitentan in Subjects With Eisenmenger Syndrome Terminated NCT01739400 Phase 3 Macitentan 10 mg tablet, once daily.
7 Therapy of Pulmonary Arterial Hypertension (PAH) - Treatment With Sildenafil in Eisenmenger Patients Terminated NCT00586794 Phase 3 Sildenafil;Placebo
8 Respiratory and Physical Therapy in Patients With Associated Pulmonary Arterial Hypertension (APAH) With Congenital Heart Defects Unknown status NCT01397110 Phase 2
9 Phosphodiesterase-5 Inhibitor in Eisenmenger Syndrome Completed NCT01200732 Phase 2 Tadalafil, placebo
10 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
11 Six Minutes Walk Test and Shuttle Walk Test in Eisenmenger Syndrome Unknown status NCT02752399
12 Eisenmenger Syndrome in the Nordic Countries Unknown status NCT01976533
13 Exercise Capacity and Quality of Life in Patients With PPH Receiving Short Term Oral L-Citrulline Malate Unknown status NCT01683981 Early Phase 1 L-Citrulline Malate
14 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083
15 Eisenmenger Quality Enhancement Research Initiative Completed NCT01623492
16 The Effects of Inhaled Iloprost on Congenital Heart Disease With Eisenmenger Syndrome Completed NCT01283958
17 Effects Oxygen Supplementation Determined Better Exercise Capacity in Eisenmenger Syndrome Completed NCT02661802 Not Applicable
18 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
19 Eisenmenger's Syndrome in Adults With CHD Completed NCT00266903
20 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442 Not Applicable
21 COMPERA / COMPERA-KIDS Recruiting NCT01347216
22 Iloprost for the Treatment of Pulmonary Hypertension in Adults With Congenital Heart Disease Terminated NCT01319045 Not Applicable Iloprost

Search NIH Clinical Center for Eisenmenger Syndrome

Genetic Tests for Eisenmenger Syndrome

Anatomical Context for Eisenmenger Syndrome

MalaCards organs/tissues related to Eisenmenger Syndrome:

41
Heart, Lung, Brain, Endothelial, Kidney, Testes, Breast

Publications for Eisenmenger Syndrome

Articles related to Eisenmenger Syndrome:

(show top 50) (show all 333)
# Title Authors Year
1
Case Report of an Awake Craniotomy in a Patient With Eisenmenger Syndrome. ( 29708913 )
2018
2
Eisenmenger syndrome - an electrocardiographic and echocardiographic assessment of the right ventricle. ( 29947230 )
2018
3
Dual endothelin-1 receptor antagonism attenuates platelet-mediated derangements of blood coagulation in Eisenmenger syndrome. ( 29802795 )
2018
4
Increased microvolt T-wave alternans in children and adolescents with Eisenmenger syndrome. ( 29638226 )
2018
5
Selexipag in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension and Eisenmenger Syndrome: First Report. ( 29521655 )
2018
6
Eisenmenger Syndrome in Pregnancy: When Is It Time for ECMO?: A Case Report. ( 29894348 )
2018
7
Eisenmenger Syndrome ( 29939577 )
2018
8
Eisenmenger Syndrome and Pregnancy: Novel ECMO Configuration as a Bridge to Delivery and Recovery Utilizing a Multidisciplinary Team. ( 28195885 )
2018
9
Eisenmenger Syndrome in Adults: Treatment Pattern and Prognostic Factors in the Advanced Pulmonary Vasodilator Era. ( 30121863 )
2018
10
Dental considerations and recommendations in Eisenmenger syndrome: A report of an unusual paediatric case. ( 30196521 )
2018
11
Floating kidneys associated with Eisenmenger syndrome. ( 30348295 )
2018
12
Review of evidence for bosentan therapy for treatment of Eisenmenger syndrome. ( 30475252 )
2018
13
The Echocardiographic Characteristics and Prognostic Significance of Pericardial Effusions in Eisenmenger Syndrome. ( 28882496 )
2017
14
Brain metabolite alterations in Eisenmenger syndrome: Evaluation with MR proton spectroscopy. ( 28027769 )
2017
15
Factors influencing outcomes in patients with Eisenmenger syndrome: a nine-year follow-up study. ( 28704136 )
2017
16
Declining incidence and prevalence of Eisenmenger syndrome in the developed world: a triumph of modern medicine. ( 28566473 )
2017
17
Eisenmenger Syndrome Revisited. ( 29187101 )
2017
18
Response by Kempny et al to Letter Regarding Article, "Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome: A Multicenter Study". ( 28893965 )
2017
19
Managing the Eisenmenger syndrome: a call to arms. ( 29061688 )
2017
20
Secundum atrial septal defect with Eisenmenger syndrome: A scarcely reported disease in Nigeria. ( 29269987 )
2017
21
Improving Survival in Patients With Eisenmenger Syndrome: Are We Any Closer? ( 28396379 )
2017
22
Case Report of an Awake Craniotomy in a Patient With Eisenmenger Syndrome. ( 29135526 )
2017
23
Past and current cause-specific mortality in Eisenmenger syndrome. ( 28430906 )
2017
24
Epidemiological changes in Eisenmenger syndrome in the Nordic region in 1977-2012. ( 28450553 )
2017
25
Impact of advanced medical therapy for the outcome of an adult patient with Eisenmenger syndrome. ( 28348949 )
2017
26
Reverse cardiac remodelling after lung transplantation in Eisenmenger syndrome. ( 28597783 )
2017
27
Arrhythmia burden and related outcomes in Eisenmenger syndrome. ( 28523857 )
2017
28
Effects of acute oxygen supplementation on functional capacity and heart rate recovery in Eisenmenger syndrome. ( 28082094 )
2017
29
Eisenmenger syndrome. ( 28536680 )
2017
30
A Case of Advanced Glaucoma with Increased Episcleral Venous Pressure in a 17-Year-Old with Eisenmenger Syndrome. ( 29201477 )
2017
31
Eisenmenger syndrome: a rare malady that continues to fascinate. ( 28431027 )
2017
32
Pulmonary vasodilator therapy is associated with greater survival in Eisenmenger syndrome. ( 28794135 )
2017
33
Transudative chylothorax and pleural tuberculosis in a patient with Eisenmenger syndrome: An extraordinary coincidence. ( 28869240 )
2017
34
Letter by Ferrero et al Regarding Article, "Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome: A Multicenter Study". ( 28893964 )
2017
35
The Effect of Endothelin Receptor Antagonists in Patients with Eisenmenger Syndrome: A Systematic Review. ( 28660556 )
2017
36
Platelet count and mean platelet volume predict outcome in adults with Eisenmenger syndrome. ( 28663364 )
2017
37
Large ventricular septal defect and coexisting chronic constrictive pericarditis: "reversible Eisenmenger syndrome"-5 years after corrective surgery. ( 28303664 )
2017
38
Effects of reduction of pressure overload on right ventricular function in patients with Eisenmenger syndrome. ( 28318876 )
2017
39
Successful Pulmonary Artery Embolization for the Management of Hemoptysis in a Patient with Eisenmenger Syndrome Caused by Patent Ductus Arteriosus. ( 29021475 )
2017
40
Effects of long-term iloprost treatment on right ventricular function in patients with Eisenmenger syndrome. ( 27492657 )
2017
41
Treatment of pulmonary arterial hypertension in Eisenmenger syndrome: Practice makes (almost) perfect. ( 28110830 )
2017
42
Heart rate variability in Eisenmenger syndrome and its correlation with echocardiographic parameters and plasma BNP, high sensitivity troponin-I level. ( 28144000 )
2017
43
Outcome of adults with Eisenmenger syndrome treated with drugs specific to pulmonary arterial hypertension: A French multicentre study. ( 28286190 )
2017
44
Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis: A case report. ( 28614229 )
2017
45
OS 12-06 EFFECT OF LONG-TERM ILOPROST TREATMENT ON THE RIGHT VENTRICULAR FUNCTION IN PATIENTS WITH EISENMENGER SYNDROME. ( 27643376 )
2016
46
Sleep-disordered breathing in Eisenmenger Syndrome. ( 27055162 )
2016
47
Current therapy of Eisenmenger syndrome. ( 28066570 )
2016
48
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
49
Long-term outcomes of pulmonary arterial hypertension under specific drug therapy in Eisenmenger syndrome. ( 27866929 )
2016
50
Speckle-tracking imaging in patients with Eisenmenger syndrome. ( 26868160 )
2016

Variations for Eisenmenger Syndrome

Expression for Eisenmenger Syndrome

Search GEO for disease gene expression data for Eisenmenger Syndrome.

Pathways for Eisenmenger Syndrome

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 EDN1 GATA4 NKX2-5 TGFB1 TGFBR1 TGFBR2
2
Show member pathways
12.29 BMPR2 GATA4 NKX2-5 TGFB1 TGFBR1 TGFBR2
3 12.15 BMPR2 NKX2-5 TGFB1 TGFBR1 TGFBR3
4
Show member pathways
12.12 TGFB1 TGFBR1 TGFBR2
5 12.12 GATA4 TGFB1 TGFBR1 TGFBR2
6
Show member pathways
12.11 EDN1 GATA4 TGFB1 TGFBR1
7 12.09 BMPR2 TGFB1 TGFBR1 TGFBR2
8 12.08 TGFB1 TGFBR1 TGFBR2
9
Show member pathways
12.06 PLAT THBD VWF
10
Show member pathways
12.06 TGFBR1 TGFBR2 TGFBR3
11 12.04 BMPR2 TGFBR1 TGFBR2
12 12.04 BMPR2 EDN1 PLAT THBD
13
Show member pathways
12.01 TGFB1 TGFBR1 TGFBR2
14 12.01 TGFB1 TGFBR1 TGFBR2 TGFBR3
15 11.98 PLAT THBD VWF
16
Show member pathways
11.98 TGFB1 TGFBR1 TGFBR2
17 11.96 GATA4 NKX2-5 TGFB1
18 11.95 TGFB1 TGFBR1 TGFBR2
19
Show member pathways
11.94 TGFB1 TGFBR1 TGFBR2
20 11.93 TGFB1 TGFBR1 TGFBR2
21 11.83 TGFB1 TGFBR1 TGFBR2 TGFBR3
22
Show member pathways
11.79 TGFB1 TGFBR1 TGFBR2
23 11.79 TGFB1 TGFBR1 TGFBR3 VWF
24 11.75 BMPR2 TGFB1 TGFBR1 TGFBR2
25
Show member pathways
11.7 BMPR2 TGFB1 TGFBR1 TGFBR2
26 11.67 TGFB1 TGFBR1 TGFBR2
27
Show member pathways
11.65 TGFB1 TGFBR1 TGFBR2
28 11.6 TGFB1 TGFBR1 TGFBR2
29 11.55 EDN1 TGFB1 TGFBR1 TGFBR2 THBD
30 11.54 TGFB1 TGFBR1 TGFBR2 TGFBR3
31 11.52 GATA4 NKX2-5 TGFB1
32
Show member pathways
11.51 TGFB1 TGFBR1 TGFBR2
33 11.47 TGFB1 TGFBR1 TGFBR2 TGFBR3
34 11.46 BMPR2 GATA4 NKX2-5
35 11.39 TGFB1 TGFBR1 TGFBR2 VIP
36 11.18 GATA4 NKX2-5 TGFB1 TGFBR1 TGFBR2 TGFBR3
37 11.17 TGFB1 TGFBR1 TGFBR2
38 11.14 TGFBR1 TGFBR2 TGFBR3
39 11.09 EDN1 GATA4
40 11.08 BMPR2 GATA4 NKX2-5
41 11.03 TGFB1 TGFBR1 TGFBR2 TGFBR3
42 10.99 TGFBR1 TGFBR2
43 10.71 PLAT TGFB1 TGFBR1 TGFBR2 TGFBR3
44
Show member pathways
10.69 BMPR2 TGFB1 TGFBR1 TGFBR2
45 10.41 GATA4 NKX2-5

GO Terms for Eisenmenger Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.46 BMPR2 TGFBR1 TGFBR2 TGFBR3
2 Weibel-Palade body GO:0033093 9.26 EDN1 VWF
3 cell surface GO:0009986 9.17 BMPR2 PLAT TGFB1 TGFBR1 TGFBR2 TGFBR3
4 transforming growth factor beta receptor complex GO:0070022 8.96 TGFBR1 TGFBR2

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

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.99 EDN1 GATA4 TGFB1 TGFBR2
2 in utero embryonic development GO:0001701 9.92 CITED2 EDN1 TGFBR1 TGFBR2
3 blood coagulation GO:0007596 9.92 GATA4 PLAT THBD VWF
4 regulation of cell proliferation GO:0042127 9.91 BMPR2 TGFB1 TGFBR2
5 male gonad development GO:0008584 9.87 CITED2 GATA4 TGFBR1
6 wound healing GO:0042060 9.86 TGFB1 TGFBR1 TGFBR2
7 BMP signaling pathway GO:0030509 9.86 BMPR2 NKX2-5 TGFBR3
8 response to hypoxia GO:0001666 9.85 CITED2 EDN1 PLAT TGFB1 TGFBR2 TGFBR3
9 positive regulation of endothelial cell proliferation GO:0001938 9.84 BMPR2 TGFBR1 VIP
10 response to mechanical stimulus GO:0009612 9.83 CITED2 GATA4 TGFBR2
11 pattern specification process GO:0007389 9.83 BMPR2 TGFBR1 TGFBR2
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.81 EDN1 TGFB1 TGFBR1
13 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.81 TGFB1 TGFBR1 TGFBR2 TGFBR3
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.77 BMPR2 TGFB1 TGFBR1
15 animal organ regeneration GO:0031100 9.76 TGFB1 TGFBR2 TGFBR3
16 heart looping GO:0001947 9.76 CITED2 GATA4 NKX2-5 TGFBR2
17 positive regulation of epithelial to mesenchymal transition GO:0010718 9.75 TGFB1 TGFBR1 TGFBR2
18 positive regulation of transforming growth factor beta receptor signaling pathway GO:0030511 9.74 CITED2 TGFBR3
19 branching involved in blood vessel morphogenesis GO:0001569 9.73 EDN1 TGFBR2
20 positive regulation of vascular endothelial growth factor production GO:0010575 9.73 GATA4 TGFB1
21 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 NKX2-5
22 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.73 TGFB1 TGFBR3
23 regulation of protein binding GO:0043393 9.73 TGFBR1 TGFBR3
24 epithelial to mesenchymal transition GO:0001837 9.73 TGFB1 TGFBR1 TGFBR3
25 vasculogenesis GO:0001570 9.73 CITED2 NKX2-5 TGFB1 TGFBR2
26 negative regulation of cardiac muscle cell proliferation GO:0060044 9.72 CITED2 TGFBR2
27 cardiac muscle tissue development GO:0048738 9.72 BMPR2 NKX2-5
28 myeloid dendritic cell differentiation GO:0043011 9.72 TGFB1 TGFBR2
29 pharyngeal system development GO:0060037 9.72 NKX2-5 TGFBR1
30 outflow tract septum morphogenesis GO:0003148 9.72 BMPR2 NKX2-5 TGFBR2
31 outflow tract morphogenesis GO:0003151 9.72 BMPR2 CITED2 NKX2-5 TGFBR2 TGFBR3
32 activin receptor signaling pathway GO:0032924 9.71 BMPR2 TGFBR1
33 ventricular trabecula myocardium morphogenesis GO:0003222 9.71 NKX2-5 TGFBR1
34 heart trabecula formation GO:0060347 9.71 NKX2-5 TGFBR3
35 negative regulation of blood coagulation GO:0030195 9.71 EDN1 THBD
36 cardiac muscle cell proliferation GO:0060038 9.71 NKX2-5 TGFBR3
37 secondary palate development GO:0062009 9.7 TGFBR2 TGFBR3
38 cardiac epithelial to mesenchymal transition GO:0060317 9.7 TGFBR1 TGFBR3
39 atrioventricular valve morphogenesis GO:0003181 9.7 BMPR2 TGFBR2
40 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 BMPR2 TGFBR1 TGFBR2
41 heart development GO:0007507 9.7 CITED2 EDN1 GATA4 NKX2-5 TGFB1 TGFBR1
42 positive regulation of SMAD protein signal transduction GO:0060391 9.69 TGFB1 TGFBR1
43 cardiac ventricle morphogenesis GO:0003208 9.68 GATA4 NKX2-5
44 body fluid secretion GO:0007589 9.68 EDN1 VIP
45 germ cell migration GO:0008354 9.68 TGFB1 TGFBR1
46 regulation of cardiac muscle cell proliferation GO:0060043 9.67 NKX2-5 TGFBR1
47 atrial septum morphogenesis GO:0060413 9.67 BMPR2 GATA4 NKX2-5
48 ventricular compact myocardium morphogenesis GO:0003223 9.66 TGFBR1 TGFBR3
49 common-partner SMAD protein phosphorylation GO:0007182 9.65 TGFB1 TGFBR2
50 endocardial cushion development GO:0003197 9.65 BMPR2 CITED2 GATA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 9.54 BMPR2 TGFBR1 TGFBR2
2 transforming growth factor beta binding GO:0050431 9.5 TGFBR1 TGFBR2 TGFBR3
3 glycosaminoglycan binding GO:0005539 9.49 TGFBR2 TGFBR3
4 activin binding GO:0048185 9.48 TGFBR1 TGFBR3
5 type I transforming growth factor beta receptor binding GO:0034713 9.46 TGFB1 TGFBR2
6 transforming growth factor beta receptor activity, type II GO:0005026 9.43 BMPR2 TGFBR2
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.43 BMPR2 TGFBR1 TGFBR2
8 type II transforming growth factor beta receptor binding GO:0005114 9.33 TGFB1 TGFBR1 TGFBR3
9 transforming growth factor beta-activated receptor activity GO:0005024 9.26 BMPR2 TGFBR1 TGFBR2 TGFBR3
10 SMAD binding GO:0046332 9.02 BMPR2 CITED2 TGFBR1 TGFBR2 TGFBR3
11 protein binding GO:0005515 10.22 BMPR2 CITED2 EDN1 GATA4 NKX2-5 PLAT

Sources for Eisenmenger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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