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 angina pectoris and chronic thromboembolic pulmonary hypertension. An important gene associated with Eisenmenger Syndrome is THBD (Thrombomodulin), and among its related pathways/superpathways are Signaling by GPCR and PAK Pathway. The drugs Bosentan and Endothelin Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cardiovascular system and cellular

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 94)
# Related Disease Score Top Affiliating Genes
1 angina pectoris 30.0 EDN1 VWF
2 chronic thromboembolic pulmonary hypertension 29.9 BMPR2 EDN1
3 thrombosis 29.8 PLAT THBD VWF
4 myocardial infarction 28.3 EDN1 PLAT THBD VWF
5 vascular disease 28.0 BMPR2 EDN1 PLAT THBD VWF
6 pulmonary hypertension 27.1 BMPR2 EDN1 PLAT TGFBR2 THBD VIP
7 unilateral absence of a pulmonary artery 10.7 THBD VWF
8 spotted fever 10.5 THBD VWF
9 familial thoracic aortic aneurysm and dissection 10.4 TGFBR1 TGFBR2
10 raynaud disease 10.4 EDN1 VWF
11 loeys-dietz syndrome 1 10.4 TGFBR1 TGFBR2
12 transient hypogammaglobulinemia of infancy 10.4 TGFBR1 TGFBR2
13 transient hypogammaglobulinemia 10.4 TGFBR1 TGFBR2
14 mercury poisoning 10.3 PLAT THBD
15 postaxial acrofacial dysostosis 10.3 PLAT THBD
16 multiple self-healing squamous epithelioma 10.3 TGFBR1 TGFBR2
17 platelet aggregation, spontaneous 10.3 PLAT VWF
18 pulmonary hypertension, primary, 1 10.3
19 telangiectasis 10.3 BMPR2 TGFBR1
20 marantic endocarditis 10.3 PLAT THBD
21 heart disease 10.2
22 ventricular septal defect 10.2
23 chronic pulmonary heart disease 10.2 BMPR2 EDN1
24 atrial heart septal defect 10.2
25 coronary thrombosis 10.2 PLAT VWF
26 lung sarcoma 10.1 PLAT THBD
27 raynaud phenomenon 10.1 EDN1 THBD VWF
28 diabetic angiopathy 10.1 EDN1 THBD VWF
29 collagen disease 10.1 EDN1 THBD VWF
30 dysfibrinogenemia 10.1 PLAT THBD
31 patent ductus arteriosus 1 10.1
32 middle cerebral artery infarction 10.0 EDN1 PLAT
33 thrombophilia due to activated protein c resistance 10.0 PLAT THBD VWF
34 thrombophilia due to thrombin defect 10.0 PLAT THBD VWF
35 chronic active epstein-barr virus infection 10.0 TGFB1 THBD
36 hepatic veno-occlusive disease 10.0 PLAT THBD
37 endotheliitis 10.0
38 peripheral vascular disease 10.0 PLAT THBD VWF
39 portal hypertension 9.9 BMPR2 EDN1 VWF
40 down syndrome 9.9
41 thrombophilia 9.9 PLAT THBD VWF
42 venous insufficiency 9.9 PLAT VWF
43 heritable pulmonary arterial hypertension 9.9 BMPR2 TGFB1
44 blood coagulation disease 9.8 THBD VWF
45 tetralogy of fallot 9.8
46 paraganglioma 9.8
47 aortopulmonary window 9.8
48 hepatopulmonary syndrome 9.8 EDN1 VWF
49 carotid artery dissection 9.8 PLAT TGFBR2
50 stroke, ischemic 9.8 PLAT THBD VWF

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



Diseases related to Eisenmenger Syndrome

Symptoms & Phenotypes for Eisenmenger Syndrome

MGI Mouse Phenotypes related to Eisenmenger Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.24 PLAT BMPR2 TGFB1 EDN1 TGFBR1 THBD
2 cellular MP:0005384 10.13 PLAT BMPR2 TGFB1 VWF TGFBR3 TGFBR1
3 homeostasis/metabolism MP:0005376 10.09 TGFBR1 PLAT BMPR2 TGFB1 EDN1 VWF
4 mortality/aging MP:0010768 10.07 TGFBR1 PLAT BMPR2 TGFB1 EDN1 TGFBR3
5 hematopoietic system MP:0005397 10.06 TGFBR1 PLAT BMPR2 TGFB1 VWF TGFBR3
6 immune system MP:0005387 10.06 TGFBR1 PLAT BMPR2 TGFB1 TGFBR3 THBD
7 digestive/alimentary MP:0005381 10.05 TGFBR1 PLAT TGFB1 EDN1 THBD TGFBR2
8 embryo MP:0005380 9.97 EDN1 BMPR2 TGFB1 TGFBR1 THBD TGFBR2
9 endocrine/exocrine gland MP:0005379 9.95 EDN1 PLAT TGFB1 TGFBR1 VIP TGFBR2
10 muscle MP:0005369 9.87 TGFBR1 PLAT BMPR2 TGFB1 EDN1 TGFBR3
11 nervous system MP:0003631 9.86 PLAT BMPR2 TGFB1 EDN1 VWF TGFBR1
12 normal MP:0002873 9.63 EDN1 BMPR2 TGFBR1 THBD VIP TGFBR2
13 respiratory system MP:0005388 9.5 TGFBR1 PLAT BMPR2 TGFB1 THBD TGFBR2
14 skeleton MP:0005390 9.17 TGFBR1 PLAT BMPR2 TGFB1 EDN1 TGFBR3

Drugs & Therapeutics for Eisenmenger Syndrome

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

(show all 30)
# 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 Endothelin A Receptor Antagonists Phase 3
9 Phosphodiesterase 5 Inhibitors Phase 3,Phase 2,Phase 1
10 Phosphodiesterase Inhibitors Phase 3,Phase 2,Phase 1
11 Citrate Nutraceutical Phase 3,Phase 1,Phase 2
12
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
13
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
14 Platelet Aggregation Inhibitors Phase 1, Phase 2,Not Applicable
15 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
16 Protective Agents Phase 1, Phase 2
17
Iloprost Approved, Investigational ,Not Applicable 78919-13-8 6443959
18
Treprostinil Approved, Investigational 81846-19-7 54786 6918140
19
Epoprostenol Approved ,Not Applicable 61849-14-7, 35121-78-9 5280427 5282411
20 Selexipag Approved 475086-01-2
21
Allopurinol Approved 315-30-0 2094
22
Iron Approved 7439-89-6 23925
23 Tezosentan Investigational Not Applicable 180384-57-0
24 Imatinib Mesylate 220127-57-1 123596
25 diuretics
26 Angiotensin-Converting Enzyme Inhibitors
27 Vaccines
28 Anti-Bacterial Agents
29 Antibiotics, Antitubercular
30 Anticoagulants

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 Assess the Long-term Safety, Tolerability, and Efficacy of Macitentan in Subjects With Eisenmenger Syndrome Completed NCT01739400 Phase 3 Macitentan 10 mg tablet, once daily.
6 Clinical Study to Evaluate the Effects of Macitentan on Exercise Capacity in Subjects With Eisenmenger Syndrome Completed NCT01743001 Phase 3 Macitentan 10 mg;Placebo
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 The Effects of Inhaled Iloprost on Congenital Heart Disease With Eisenmenger Syndrome Completed NCT01283958
16 Effects Oxygen Supplementation Determined Better Exercise Capacity in Eisenmenger Syndrome Completed NCT02661802 Not Applicable
17 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
18 Eisenmenger's Syndrome in Adults With CHD Completed NCT00266903
19 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442 Not Applicable
20 COMPERA / COMPERA-KIDS Recruiting NCT01347216
21 Eisenmenger Quality Enhancement Research Initiative Active, not recruiting NCT01623492
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, Testes, Brain, Endothelial, Breast

Publications for Eisenmenger Syndrome

Articles related to Eisenmenger Syndrome:

(show top 50) (show all 291)
# 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
The Echocardiographic Characteristics and Prognostic Significance of Pericardial Effusions in Eisenmenger Syndrome. ( 28882496 )
2017
9
Brain metabolite alterations in Eisenmenger syndrome: Evaluation with MR proton spectroscopy. ( 28027769 )
2017
10
Factors influencing outcomes in patients with Eisenmenger syndrome: a nine-year follow-up study. ( 28704136 )
2017
11
Declining incidence and prevalence of Eisenmenger syndrome in the developed world: a triumph of modern medicine. ( 28566473 )
2017
12
Eisenmenger Syndrome Revisited. ( 29187101 )
2017
13
Response by Kempny et al to Letter Regarding Article, "Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome: A Multicenter Study". ( 28893965 )
2017
14
Managing the Eisenmenger syndrome: a call to arms. ( 29061688 )
2017
15
Secundum atrial septal defect with Eisenmenger syndrome: A scarcely reported disease in Nigeria. ( 29269987 )
2017
16
Improving Survival in Patients With Eisenmenger Syndrome: Are We Any Closer? ( 28396379 )
2017
17
Case Report of an Awake Craniotomy in a Patient With Eisenmenger Syndrome. ( 29135526 )
2017
18
Past and current cause-specific mortality in Eisenmenger syndrome. ( 28430906 )
2017
19
Epidemiological changes in Eisenmenger syndrome in the Nordic region in 1977-2012. ( 28450553 )
2017
20
Impact of advanced medical therapy for the outcome of an adult patient with Eisenmenger syndrome. ( 28348949 )
2017
21
Reverse cardiac remodelling after lung transplantation in Eisenmenger syndrome. ( 28597783 )
2017
22
Arrhythmia burden and related outcomes in Eisenmenger syndrome. ( 28523857 )
2017
23
Effects of acute oxygen supplementation on functional capacity and heart rate recovery in Eisenmenger syndrome. ( 28082094 )
2017
24
Eisenmenger syndrome. ( 28536680 )
2017
25
A Case of Advanced Glaucoma with Increased Episcleral Venous Pressure in a 17-Year-Old with Eisenmenger Syndrome. ( 29201477 )
2017
26
Eisenmenger syndrome: a rare malady that continues to fascinate. ( 28431027 )
2017
27
Pulmonary vasodilator therapy is associated with greater survival in Eisenmenger syndrome. ( 28794135 )
2017
28
Transudative chylothorax and pleural tuberculosis in a patient with Eisenmenger syndrome: An extraordinary coincidence. ( 28869240 )
2017
29
Letter by Ferrero et al Regarding Article, "Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome: A Multicenter Study". ( 28893964 )
2017
30
The Effect of Endothelin Receptor Antagonists in Patients with Eisenmenger Syndrome: A Systematic Review. ( 28660556 )
2017
31
Platelet count and mean platelet volume predict outcome in adults with Eisenmenger syndrome. ( 28663364 )
2017
32
Effects of reduction of pressure overload on right ventricular function in patients with Eisenmenger syndrome. ( 28318876 )
2017
33
Successful Pulmonary Artery Embolization for the Management of Hemoptysis in a Patient with Eisenmenger Syndrome Caused by Patent Ductus Arteriosus. ( 29021475 )
2017
34
Outcome of adults with Eisenmenger syndrome treated with drugs specific to pulmonary arterial hypertension: A French multicentre study. ( 28286190 )
2017
35
OS 12-06 EFFECT OF LONG-TERM ILOPROST TREATMENT ON THE RIGHT VENTRICULAR FUNCTION IN PATIENTS WITH EISENMENGER SYNDROME. ( 27643376 )
2016
36
Sleep-disordered breathing in Eisenmenger Syndrome. ( 27055162 )
2016
37
Current therapy of Eisenmenger syndrome. ( 28066570 )
2016
38
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
39
Long-term outcomes of pulmonary arterial hypertension under specific drug therapy in Eisenmenger syndrome. ( 27866929 )
2016
40
Speckle-tracking imaging in patients with Eisenmenger syndrome. ( 26868160 )
2016
41
Eisenmenger syndrome in an adult patient with aortopulmonary window. ( 27727969 )
2016
42
Preoperative Assessment of the Impact of Positive Pressure Ventilation With Noninvasive Positive Pressure Ventilation in a Patient With Eisenmenger Syndrome: A Case Study. ( 27552240 )
2016
43
Case 1/2016 - 56-Year-Old Male with Atrial Septal Defect, Pulmonary Arterial Hypertension, Hospitalized Due to Eisenmenger Syndrome. ( 27027369 )
2016
44
18F-FDG PET/CT in a Patient With Glomus Vagale Paraganglioma and Eisenmenger Syndrome: Searching for the Missing Link? ( 26673238 )
2016
45
Brain diffusion changes in Eisenmenger syndrome. ( 27767324 )
2016
46
Anaesthetic management of breast surgery in a patient with Eisenmenger syndrome. ( 27554331 )
2016
47
Current therapy and outcome of Eisenmenger syndrome: data of the German National Register for congenital heart defects. ( 26843280 )
2016
48
Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome). ( 26829363 )
2016
49
Cardiac remodelling amongst adults with various aetiologies of pulmonary arterial hypertension including Eisenmenger syndrome-implications on survival and the role of right ventricular transverse strain. ( 28011668 )
2016
50
Eisenmenger Syndrome in Pregnancy. ( 27849306 )
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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 BMPR2 EDN1 PLAT TGFB1 TGFBR1 TGFBR2
2
Show member pathways
13.13 BMPR2 TGFB1 TGFBR1 TGFBR2 TGFBR3
3
Show member pathways
12.77 TGFB1 TGFBR1 TGFBR2 TGFBR3
4
Show member pathways
12.75 PLAT TGFB1 TGFBR1 TGFBR2
5
Show member pathways
12.72 PLAT TGFB1 TGFBR1 TGFBR2
6
Show member pathways
12.71 EDN1 TGFB1 TGFBR1 TGFBR2 TGFBR3
7
Show member pathways
12.34 BMPR2 TGFB1 TGFBR1 TGFBR2
8 12.27 TGFB1 TGFBR1 TGFBR2
9
Show member pathways
12.16 TGFB1 TGFBR1 TGFBR2
10
Show member pathways
12.13 TGFB1 TGFBR1 TGFBR2
11 12.13 BMPR2 TGFB1 TGFBR1 TGFBR3
12
Show member pathways
12.09 TGFB1 TGFBR1 TGFBR2
13 12.05 TGFB1 TGFBR1 TGFBR2
14 12.05 BMPR2 TGFB1 TGFBR1 TGFBR2
15
Show member pathways
12.03 TGFBR1 TGFBR2 TGFBR3
16 12.03 TGFB1 TGFBR1 TGFBR2
17
Show member pathways
12.02 PLAT THBD VWF
18
Show member pathways
12.02 EDN1 TGFB1 TGFBR1
19 12 BMPR2 TGFBR1 TGFBR2
20 11.99 BMPR2 EDN1 PLAT THBD
21
Show member pathways
11.97 TGFB1 TGFBR1 TGFBR2
22 11.96 TGFB1 TGFBR1 TGFBR2 TGFBR3
23 11.94 PLAT THBD VWF
24
Show member pathways
11.93 TGFB1 TGFBR1 TGFBR2
25 11.92 TGFB1 TGFBR1 TGFBR2
26 11.89 TGFB1 TGFBR1 TGFBR2
27 11.76 TGFB1 TGFBR1 TGFBR2 TGFBR3
28
Show member pathways
11.75 TGFB1 TGFBR1 TGFBR2
29 11.71 TGFB1 TGFBR1 TGFBR3 VWF
30 11.66 BMPR2 TGFB1 TGFBR1 TGFBR2
31 11.62 TGFB1 TGFBR1 TGFBR2
32
Show member pathways
11.61 TGFB1 TGFBR1 TGFBR2
33
Show member pathways
11.59 BMPR2 TGFB1 TGFBR1 TGFBR2
34 11.43 TGFB1 TGFBR1 TGFBR2 TGFBR3
35
Show member pathways
11.38 TGFB1 TGFBR1 TGFBR2
36 11.35 EDN1 TGFB1 TGFBR1 TGFBR2 THBD
37 11.33 TGFB1 TGFBR1 TGFBR2 TGFBR3
38 11.12 TGFB1 TGFBR1 TGFBR2
39 11.07 TGFBR1 TGFBR2 TGFBR3
40 11.03 TGFB1 TGFBR1 TGFBR2 TGFBR3
41 10.98 TGFBR1 TGFBR2
42
Show member pathways
10.89 BMPR2 TGFB1 TGFBR1 TGFBR2
43 10.71 PLAT TGFB1 TGFBR1 TGFBR2 TGFBR3

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 extracellular region GO:0005576 9.88 EDN1 PLAT TGFB1 TGFBR3 VIP VWF
2 extracellular space GO:0005615 9.8 BMPR2 EDN1 PLAT TGFB1 TGFBR3 THBD
3 extracellular matrix GO:0031012 9.54 PLAT TGFB1 VWF
4 Weibel-Palade body GO:0033093 9.26 EDN1 VWF
5 receptor complex GO:0043235 9.26 BMPR2 TGFBR1 TGFBR2 TGFBR3
6 cell surface GO:0009986 9.17 BMPR2 PLAT TGFB1 TGFBR1 TGFBR2 TGFBR3
7 transforming growth factor beta receptor complex GO:0070022 9.16 TGFBR1 TGFBR2

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

(show all 49)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.99 BMPR2 TGFB1 TGFBR1 TGFBR2
2 positive regulation of cell proliferation GO:0008284 9.92 EDN1 TGFB1 TGFBR1 TGFBR2 VIP
3 regulation of cell proliferation GO:0042127 9.88 BMPR2 TGFB1 TGFBR2
4 regulation of gene expression GO:0010468 9.88 TGFB1 TGFBR1 TGFBR2
5 heart development GO:0007507 9.88 EDN1 TGFB1 TGFBR1 TGFBR2
6 positive regulation of cell migration GO:0030335 9.86 EDN1 TGFB1 TGFBR1
7 in utero embryonic development GO:0001701 9.85 EDN1 TGFBR1 TGFBR2
8 blood coagulation GO:0007596 9.85 PLAT THBD VWF
9 BMP signaling pathway GO:0030509 9.81 BMPR2 TGFB1 TGFBR3
10 wound healing GO:0042060 9.8 TGFB1 TGFBR1 TGFBR2
11 roof of mouth development GO:0060021 9.79 TGFBR1 TGFBR2 TGFBR3
12 signal transduction by protein phosphorylation GO:0023014 9.77 BMPR2 TGFBR1 TGFBR2
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.73 EDN1 TGFB1 TGFBR1
14 digestive tract development GO:0048565 9.71 TGFB1 TGFBR2
15 positive regulation of epithelial cell migration GO:0010634 9.7 BMPR2 TGFBR2
16 lens development in camera-type eye GO:0002088 9.7 TGFBR1 TGFBR2
17 positive regulation of bone mineralization GO:0030501 9.69 BMPR2 TGFB1
18 embryonic cranial skeleton morphogenesis GO:0048701 9.69 TGFBR1 TGFBR2
19 outflow tract morphogenesis GO:0003151 9.69 BMPR2 TGFBR2 TGFBR3
20 branching involved in blood vessel morphogenesis GO:0001569 9.68 EDN1 TGFBR2
21 outflow tract septum morphogenesis GO:0003148 9.67 BMPR2 TGFBR2
22 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.67 TGFB1 TGFBR3
23 regulation of protein binding GO:0043393 9.67 TGFBR1 TGFBR3
24 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 BMPR2 TGFB1 TGFBR1
25 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.67 TGFB1 TGFBR1 TGFBR2 TGFBR3
26 myeloid dendritic cell differentiation GO:0043011 9.66 TGFB1 TGFBR2
27 activin receptor signaling pathway GO:0032924 9.66 BMPR2 TGFBR1
28 negative regulation of blood coagulation GO:0030195 9.65 EDN1 THBD
29 cardiac epithelial to mesenchymal transition GO:0060317 9.65 TGFBR1 TGFBR3
30 secondary palate development GO:0062009 9.65 TGFBR2 TGFBR3
31 animal organ regeneration GO:0031100 9.65 TGFB1 TGFBR2 TGFBR3
32 response to hypoxia GO:0001666 9.65 EDN1 PLAT TGFB1 TGFBR2 TGFBR3
33 positive regulation of SMAD protein signal transduction GO:0060391 9.64 TGFB1 TGFBR1
34 atrioventricular valve morphogenesis GO:0003181 9.64 BMPR2 TGFBR2
35 positive regulation of epithelial to mesenchymal transition GO:0010718 9.63 TGFB1 TGFBR1 TGFBR2
36 germ cell migration GO:0008354 9.62 TGFB1 TGFBR1
37 body fluid secretion GO:0007589 9.62 EDN1 VIP
38 ventricular compact myocardium morphogenesis GO:0003223 9.61 TGFBR1 TGFBR3
39 epithelial to mesenchymal transition GO:0001837 9.61 TGFB1 TGFBR1 TGFBR3
40 common-partner SMAD protein phosphorylation GO:0007182 9.59 TGFB1 TGFBR2
41 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.58 TGFBR1 TGFBR2
42 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 BMPR2 TGFBR1 TGFBR2
43 response to salt GO:1902074 9.57 EDN1 TGFB1
44 positive regulation of odontogenesis GO:0042482 9.55 EDN1 TGFB1
45 tricuspid valve morphogenesis GO:0003186 9.54 BMPR2 TGFBR2
46 response to cholesterol GO:0070723 9.5 TGFB1 TGFBR1 TGFBR2
47 ventricular septum morphogenesis GO:0060412 9.46 BMPR2 TGFBR1 TGFBR2 TGFBR3
48 transforming growth factor beta receptor signaling pathway GO:0007179 9.35 BMPR2 TGFB1 TGFBR1 TGFBR2 TGFBR3
49 pathway-restricted SMAD protein phosphorylation GO:0060389 8.92 TGFB1 TGFBR1 TGFBR2 TGFBR3

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

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.54 TGFBR1 TGFBR2 TGFBR3
2 transforming growth factor beta binding GO:0050431 9.5 TGFBR1 TGFBR2 TGFBR3
3 transforming growth factor beta receptor binding GO:0005160 9.46 TGFB1 TGFBR3
4 glycosaminoglycan binding GO:0005539 9.43 TGFBR2 TGFBR3
5 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.43 BMPR2 TGFBR1 TGFBR2
6 type I transforming growth factor beta receptor binding GO:0034713 9.4 TGFB1 TGFBR2
7 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.33 BMPR2 TGFBR1 TGFBR2
8 type II transforming growth factor beta receptor binding GO:0005114 9.13 TGFB1 TGFBR1 TGFBR3
9 transforming growth factor beta-activated receptor activity GO:0005024 8.8 TGFBR1 TGFBR2 TGFBR3

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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