MCID: ESN011
MIFTS: 49

Eisenmenger Syndrome

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Eisenmenger Syndrome

MalaCards integrated aliases for Eisenmenger Syndrome:

Name: Eisenmenger Syndrome 49 55 51
Eisenmenger Complex 69

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare respiratory diseases


External Ids:

Orphanet 55 ORPHA97214
UMLS via Orphanet 70 C0013743
ICD10 via Orphanet 33 I27.2
UMLS 69 C0013743

Summaries for Eisenmenger Syndrome

NIH Rare Diseases : 49 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 thrombosis 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 Iloprost and Bosentan have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cardiovascular system and cellular

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 99)
# Related Disease Score Top Affiliating Genes
1 thrombosis 29.8 PLAT THBD VWF
2 chronic thromboembolic pulmonary hypertension 29.7 BMPR2 EDN1
3 angina pectoris 29.7 PLAT VWF
4 myocardial infarction 28.8 EDN1 PLAT THBD VWF
5 vascular disease 28.6 BMPR2 EDN1 PLAT THBD VWF
6 pulmonary hypertension 28.3 BMPR2 EDN1 PLAT TGFBR2 THBD VIP
7 unilateral absence of a pulmonary artery 10.4 THBD VWF
8 spotted fever 10.3 THBD VWF
9 heart disease 10.3
10 pulmonary hypertension, primary, 1 10.2
11 ventricular septal defect 10.2
12 familial thoracic aortic aneurysm and dissection 10.2 TGFBR1 TGFBR2
13 transient hypogammaglobulinemia of infancy 10.2 TGFBR1 TGFBR2
14 transient hypogammaglobulinemia 10.2 TGFBR1 TGFBR2
15 mercury poisoning 10.2 PLAT THBD
16 postaxial acrofacial dysostosis 10.2 PLAT THBD
17 multiple self-healing squamous epithelioma 10.2 TGFBR1 TGFBR2
18 atrial heart septal defect 10.2
19 platelet aggregation, spontaneous 10.2 PLAT VWF
20 marantic endocarditis 10.1 PLAT THBD
21 telangiectasis 10.1 BMPR2 TGFBR1
22 chronic pulmonary heart disease 10.1 BMPR2 EDN1
23 patent ductus arteriosus 1 10.1
24 coronary thrombosis 10.1 PLAT VWF
25 gastric cardia adenocarcinoma 10.1 TGFBR1 TGFBR2
26 raynaud disease 10.1 EDN1 THBD VWF
27 diabetic angiopathy 10.1 EDN1 THBD VWF
28 collagen disease 10.1 EDN1 THBD VWF
29 lung sarcoma 10.0 PLAT THBD
30 middle cerebral artery infarction 10.0 EDN1 PLAT
31 dysfibrinogenemia 10.0 PLAT THBD
32 thrombophilia due to activated protein c resistance 10.0 PLAT THBD VWF
33 thrombophilia due to thrombin defect 10.0 PLAT THBD VWF
34 peripheral vascular disease 10.0 PLAT THBD VWF
35 hemorrhagic disease 10.0 PLAT THBD VWF
36 chronic active epstein-barr virus infection 10.0 TGFB1 THBD
37 endotheliitis 10.0
38 portal hypertension 9.9 BMPR2 EDN1 VWF
39 thrombophilia 9.9 PLAT THBD VWF
40 heritable pulmonary arterial hypertension 9.9 BMPR2 TGFB1
41 carotid artery dissection 9.9 PLAT TGFBR2
42 stroke, ischemic 9.9 PLAT THBD VWF
43 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.9
44 hepatic veno-occlusive disease 9.9 PLAT THBD
45 diffuse scleroderma 9.9 EDN1 TGFB1
46 tetralogy of fallot 9.8
47 down syndrome 9.8
48 cyanosis, transient neonatal 9.8
49 paraganglioma 9.8
50 aortopulmonary window 9.8

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:

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

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
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
2
Bosentan Approved, Investigational Phase 4,Phase 3 147536-97-8 104865
3 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Platelet Aggregation Inhibitors Phase 4,Phase 1,Phase 2
5 Endothelin Receptor Antagonists Phase 4,Phase 3
6 Antihypertensive Agents Phase 4,Phase 3
7
Macitentan Approved Phase 3 441798-33-0
8
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 77-92-9 311
9 Sildenafil Citrate Phase 3,Phase 1,Phase 2 171599-83-0
10 Endothelin A Receptor Antagonists Phase 3
11 Phosphodiesterase 5 Inhibitors Phase 3,Phase 2,Phase 1
12 Phosphodiesterase Inhibitors Phase 3,Phase 2,Phase 1
13 Citrate Nutraceutical Phase 3,Phase 1,Phase 2
14
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
15
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
16 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
17 Protective Agents Phase 1, Phase 2
18
Treprostinil Approved, Investigational 81846-19-7 6918140 54786
19
Epoprostenol Approved 61849-14-7, 35121-78-9 5282411 5280427
20 Selexipag Approved 475086-01-2
21
Iron Approved 7439-89-6 23925
22
Allopurinol Approved 315-30-0 2094
23 Imatinib Mesylate 123596
24 diuretics
25 Vaccines
26 Angiotensin-Converting Enzyme Inhibitors
27 Anti-Bacterial Agents
28 Anticoagulants
29 Antibiotics, Antitubercular
30 Tezosentan

Interventional clinical trials:

(show all 22)

# Name Status NCT ID Phase Drugs
1 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
2 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
3 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
4 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
5 Combination Treatment With Bosentan and Sildenafil to Patients With Eisenmengers Syndrome Completed NCT00303004 Phase 3 Bosentan and Sildenafil
6 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.
7 Clinical Study to Evaluate the Effects of Macitentan on Exercise Capacity in Subjects With Eisenmenger Syndrome Completed NCT01743001 Phase 3 Macitentan 10 mg;Placebo
8 Therapy of Pulmonary Arterial Hypertension (PAH) - Treatment With Sildenafil in Eisenmenger Patients Terminated NCT00586794 Phase 3 Sildenafil;Placebo
9 Respiratory and Physical Therapy in Patients With Associated Pulmonary Arterial Hypertension (APAH) With Congenital Heart Defects Unknown status NCT01397110 Phase 2
10 Phosphodiesterase-5 Inhibitor in Eisenmenger Syndrome Completed NCT01200732 Phase 2 Tadalafil, placebo
11 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
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 The Effects of Inhaled Iloprost on Congenital Heart Disease With Eisenmenger Syndrome Completed NCT01283958
15 Effects Oxygen Supplementation Determined Better Exercise Capacity in Eisenmenger Syndrome Completed NCT02661802
16 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
17 Eisenmenger's Syndrome in Adults With CHD Completed NCT00266903
18 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Completed NCT02119442
19 Six Minutes Walk Test and Shuttle Walk Test in Eisenmenger Syndrome Recruiting NCT02752399
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 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:

38
Heart, Lung, Testes, Brain, Endothelial

Publications for Eisenmenger Syndrome

Articles related to Eisenmenger Syndrome:

(show top 50) (show all 283)
# Title Authors Year
1
Eisenmenger syndrome. ( 28536680 )
2017
2
Factors influencing outcomes in patients with Eisenmenger syndrome: a nine-year follow-up study. ( 28704136 )
2017
3
The Echocardiographic Characteristics and Prognostic Significance of Pericardial Effusions in Eisenmenger Syndrome. ( 28882496 )
2017
4
Effects of reduction of pressure overload on right ventricular function in patients with Eisenmenger syndrome. ( 28318876 )
2017
5
Successful Pulmonary Artery Embolization for the Management of Hemoptysis in a Patient with Eisenmenger Syndrome Caused by Patent Ductus Arteriosus. ( 29021475 )
2017
6
Impact of advanced medical therapy for the outcome of an adult patient with Eisenmenger syndrome. ( 28348949 )
2017
7
Declining incidence and prevalence of Eisenmenger syndrome in the developed world: a triumph of modern medicine. ( 28566473 )
2017
8
The Effect of Endothelin Receptor Antagonists in Patients with Eisenmenger Syndrome: A Systematic Review. ( 28660556 )
2017
9
Reverse cardiac remodelling after lung transplantation in Eisenmenger syndrome. ( 28597783 )
2017
10
Epidemiological changes in Eisenmenger syndrome in the Nordic region in 1977-2012. ( 28450553 )
2017
11
Pulmonary vasodilator therapy is associated with greater survival in Eisenmenger syndrome. ( 28794135 )
2017
12
Platelet count and mean platelet volume predict outcome in adults with Eisenmenger syndrome. ( 28663364 )
2017
13
Outcome of adults with Eisenmenger syndrome treated with drugs specific to pulmonary arterial hypertension: A French multicentre study. ( 28286190 )
2017
14
Eisenmenger Syndrome Revisited. ( 29187101 )
2017
15
Past and current cause-specific mortality in Eisenmenger syndrome. ( 28430906 )
2017
16
Managing the Eisenmenger syndrome: a call to arms. ( 29061688 )
2017
17
Letter by Ferrero et al Regarding Article, "Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome: A Multicenter Study". ( 28893964 )
2017
18
Arrhythmia burden and related outcomes in Eisenmenger syndrome. ( 28523857 )
2017
19
Response by Kempny et al to Letter Regarding Article, "Predictors of Death in Contemporary Adult Patients With Eisenmenger Syndrome: A Multicenter Study". ( 28893965 )
2017
20
Effects of acute oxygen supplementation on functional capacity and heart rate recovery in Eisenmenger syndrome. ( 28082094 )
2017
21
Brain metabolite alterations in Eisenmenger syndrome: Evaluation with MR proton spectroscopy. ( 28027769 )
2017
22
Case Report of an Awake Craniotomy in a Patient With Eisenmenger Syndrome. ( 29135526 )
2017
23
Improving Survival in Patients With Eisenmenger Syndrome: Are We Any Closer? ( 28396379 )
2017
24
Secundum atrial septal defect with Eisenmenger syndrome: A scarcely reported disease in Nigeria. ( 29269987 )
2017
25
Transudative chylothorax and pleural tuberculosis in a patient with Eisenmenger syndrome: An extraordinary coincidence. ( 28869240 )
2017
26
Eisenmenger syndrome: a rare malady that continues to fascinate. ( 28431027 )
2017
27
A Case of Advanced Glaucoma with Increased Episcleral Venous Pressure in a 17-Year-Old with Eisenmenger Syndrome. ( 29201477 )
2017
28
Effects of long-term iloprost treatment on right ventricular function in patients with Eisenmenger syndrome. ( 27492657 )
2016
29
An intra-cerebral abscess in a patient with Eisenmenger syndrome: An unusual case. ( 26859871 )
2016
30
Long-term outcomes of pulmonary arterial hypertension under specific drug therapy in Eisenmenger syndrome. ( 27866929 )
2016
31
Current therapy of Eisenmenger syndrome. ( 28066570 )
2016
32
Eisenmenger syndrome in an adult patient with aortopulmonary window. ( 27727969 )
2016
33
OS 12-06 EFFECT OF LONG-TERM ILOPROST TREATMENT ON THE RIGHT VENTRICULAR FUNCTION IN PATIENTS WITH EISENMENGER SYNDROME. ( 27643376 )
2016
34
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
35
Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome). ( 26829363 )
2016
36
Speckle-tracking imaging in patients with Eisenmenger syndrome. ( 26868160 )
2016
37
Eisenmenger syndrome and long-term survival in patients with Down syndrome and congenital heart disease. ( 27325590 )
2016
38
Predictors of Death in Contemporary Adult Patients with Eisenmenger Syndrome: A Multicentre Study. ( 27979875 )
2016
39
Electrocardiogram in a Young Woman With the Eisenmenger Syndrome. ( 27287060 )
2016
40
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
41
OS 12-06 EFFECT OF LONG-TERM ILOPROST TREATMENT ON THE RIGHT VENTRICULAR FUNCTION IN PATIENTS WITH EISENMENGER SYNDROME. ( 27753979 )
2016
42
Case 1/2016 - 56-Year-Old Male with Atrial Septal Defect, Pulmonary Arterial Hypertension, Hospitalized Due to Eisenmenger Syndrome. ( 27027369 )
2016
43
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
44
Assessment of the Physiological Adaptations to Chronic Hypoxemia in Eisenmenger Syndrome. ( 27198869 )
2016
45
Sinus Venosus Atrial Septal Defect Complicated by Eisenmenger Syndrome and the Role of Vasodilator Therapy. ( 27974976 )
2016
46
Current therapy and outcome of Eisenmenger syndrome: data of the German National Register for congenital heart defects. ( 26843280 )
2016
47
Brain diffusion changes in Eisenmenger syndrome. ( 27767324 )
2016
48
18F-FDG PET/CT in a Patient With Glomus Vagale Paraganglioma and Eisenmenger Syndrome: Searching for the Missing Link? ( 26673238 )
2016
49
Sleep-disordered breathing in Eisenmenger Syndrome. ( 27055162 )
2016
50
Advanced Therapy in Eisenmenger Syndrome - A Systematic Review. ( 27054605 )
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 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 BMPR2 EDN1 PLAT TGFB1 TGFBR1 TGFBR2
2
Show member pathways
13.14 BMPR2 TGFB1 TGFBR1 TGFBR2 TGFBR3
3
Show member pathways
12.78 TGFB1 TGFBR1 TGFBR2 TGFBR3
4
Show member pathways
12.76 PLAT TGFB1 TGFBR1 TGFBR2
5
Show member pathways
12.44 EDN1 TGFB1 TGFBR1 TGFBR2
6
Show member pathways
12.35 BMPR2 TGFB1 TGFBR1 TGFBR2
7
Show member pathways
12.16 TGFB1 TGFBR1 TGFBR2
8 12.14 BMPR2 TGFB1 TGFBR1 TGFBR3
9
Show member pathways
12.1 TGFB1 TGFBR1 TGFBR2
10 12.07 TGFB1 TGFBR1 TGFBR2
11 12.06 BMPR2 TGFB1 TGFBR1 TGFBR2
12
Show member pathways
12.05 TGFBR1 TGFBR2 TGFBR3
13 12.05 TGFB1 TGFBR1 TGFBR2
14
Show member pathways
12.04 PLAT THBD VWF
15
Show member pathways
12.03 EDN1 TGFB1 TGFBR1
16 12.01 BMPR2 TGFBR1 TGFBR2
17
Show member pathways
12.01 TGFB1 TGFBR1 TGFBR2
18 12 BMPR2 EDN1 PLAT THBD
19
Show member pathways
11.98 TGFB1 TGFBR1 TGFBR2
20 11.97 TGFB1 TGFBR1 TGFBR2 TGFBR3
21 11.96 PLAT THBD VWF
22
Show member pathways
11.95 TGFB1 TGFBR1 TGFBR2
23 11.93 TGFB1 TGFBR1 TGFBR2
24 11.91 TGFB1 TGFBR1 TGFBR2
25 11.79 TGFB1 TGFBR1 TGFBR2 TGFBR3
26
Show member pathways
11.76 TGFB1 TGFBR1 TGFBR2
27
Show member pathways
11.75 TGFB1 TGFBR1 TGFBR2 TGFBR3
28 11.72 TGFB1 TGFBR1 TGFBR3 VWF
29 11.68 BMPR2 TGFB1 TGFBR1 TGFBR2
30 11.63 TGFB1 TGFBR1 TGFBR2
31
Show member pathways
11.62 BMPR2 TGFB1 TGFBR1 TGFBR2
32
Show member pathways
11.61 TGFB1 TGFBR1 TGFBR2
33 11.55 EDN1 TGFB1 TGFBR1 TGFBR2 THBD
34
Show member pathways
11.49 TGFB1 TGFBR1 TGFBR2
35 11.47 TGFB1 TGFBR1 TGFBR2 TGFBR3
36 11.38 TGFB1 TGFBR1 TGFBR2 TGFBR3
37 11.27 TGFB1 TGFBR1 TGFBR2 TGFBR3
38 11.13 TGFB1 TGFBR1 TGFBR2
39 11.1 TGFBR1 TGFBR2 TGFBR3
40 11.1 TGFB1 TGFBR1 TGFBR2 TGFBR3
41
Show member pathways
10.99 BMPR2 TGFB1 TGFBR1 TGFBR2
42 10.98 TGFBR1 TGFBR2
43 10.71 PLAT TGFB1 TGFBR1 TGFBR2 TGFBR3
44 10.49 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 space GO:0005615 9.8 BMPR2 EDN1 PLAT TGFB1 TGFBR3 THBD
2 receptor complex GO:0043235 9.43 TGFBR1 TGFBR2 TGFBR3
3 cell surface GO:0009986 9.17 BMPR2 PLAT TGFB1 TGFBR1 TGFBR2 TGFBR3
4 Weibel-Palade body GO:0033093 9.16 EDN1 VWF
5 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 all 48)
# 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 9.93 EDN1 TGFB1 TGFBR1 TGFBR2 VIP
3 regulation of cell proliferation GO:0042127 9.87 BMPR2 TGFB1 TGFBR2
4 heart development GO:0007507 9.87 EDN1 TGFB1 TGFBR1 TGFBR2
5 in utero embryonic development GO:0001701 9.86 EDN1 TGFBR1 TGFBR2
6 regulation of gene expression GO:0010468 9.85 TGFB1 TGFBR1 TGFBR2
7 positive regulation of cell migration GO:0030335 9.85 EDN1 TGFB1 TGFBR1
8 blood coagulation GO:0007596 9.85 PLAT THBD VWF
9 wound healing GO:0042060 9.81 TGFB1 TGFBR1 TGFBR2
10 BMP signaling pathway GO:0030509 9.79 BMPR2 TGFB1 TGFBR3
11 palate development GO:0060021 9.79 TGFBR1 TGFBR2 TGFBR3
12 cellular response to transforming growth factor beta stimulus GO:0071560 9.75 EDN1 TGFB1 TGFBR1
13 positive regulation of epithelial cell migration GO:0010634 9.7 BMPR2 TGFBR2
14 lens development in camera-type eye GO:0002088 9.7 TGFBR1 TGFBR2
15 embryonic cranial skeleton morphogenesis GO:0048701 9.7 TGFBR1 TGFBR2
16 outflow tract morphogenesis GO:0003151 9.7 BMPR2 TGFBR2 TGFBR3
17 positive regulation of bone mineralization GO:0030501 9.69 BMPR2 TGFB1
18 digestive tract development GO:0048565 9.69 TGFB1 TGFBR2
19 signal transduction by protein phosphorylation GO:0023014 9.69 BMPR2 TGFBR1 TGFBR2
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 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 BMPR2 TGFB1 TGFBR1
24 transforming growth factor beta receptor signaling pathway GO:0007179 9.67 TGFB1 TGFBR1 TGFBR2 TGFBR3
25 regulation of protein binding GO:0043393 9.66 TGFBR1 TGFBR3
26 myeloid dendritic cell differentiation GO:0043011 9.66 TGFB1 TGFBR2
27 activin receptor signaling pathway GO:0032924 9.65 BMPR2 TGFBR1
28 negative regulation of blood coagulation GO:0030195 9.65 EDN1 THBD
29 positive regulation of SMAD protein import into nucleus GO:0060391 9.65 TGFB1 TGFBR1
30 positive regulation of epithelial to mesenchymal transition GO:0010718 9.65 TGFB1 TGFBR1 TGFBR2
31 cardiac epithelial to mesenchymal transition GO:0060317 9.64 TGFBR1 TGFBR3
32 atrioventricular valve morphogenesis GO:0003181 9.64 BMPR2 TGFBR2
33 body fluid secretion GO:0007589 9.63 EDN1 VIP
34 animal organ regeneration GO:0031100 9.63 TGFB1 TGFBR2 TGFBR3
35 germ cell migration GO:0008354 9.62 TGFB1 TGFBR1
36 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.62 TGFB1 TGFBR1 TGFBR2 TGFBR3
37 ventricular compact myocardium morphogenesis GO:0003223 9.61 TGFBR1 TGFBR3
38 epithelial to mesenchymal transition GO:0001837 9.61 TGFB1 TGFBR1 TGFBR3
39 common-partner SMAD protein phosphorylation GO:0007182 9.6 TGFB1 TGFBR2
40 response to salt GO:1902074 9.59 EDN1 TGFB1
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 positive regulation of odontogenesis GO:0042482 9.56 EDN1 TGFB1
44 tricuspid valve morphogenesis GO:0003186 9.55 BMPR2 TGFBR2
45 response to hypoxia GO:0001666 9.55 EDN1 PLAT TGFB1 TGFBR2 TGFBR3
46 response to cholesterol GO:0070723 9.43 TGFB1 TGFBR1 TGFBR2
47 ventricular septum morphogenesis GO:0060412 9.26 BMPR2 TGFBR1 TGFBR2 TGFBR3
48 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 glycosaminoglycan binding GO:0005539 9.43 TGFBR2 TGFBR3
4 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.43 BMPR2 TGFBR1 TGFBR2
5 type I transforming growth factor beta receptor binding GO:0034713 9.4 TGFB1 TGFBR2
6 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.33 BMPR2 TGFBR1 TGFBR2
7 type II transforming growth factor beta receptor binding GO:0005114 9.13 TGFB1 TGFBR1 TGFBR3
8 transforming growth factor beta-activated receptor activity GO:0005024 8.8 TGFBR1 TGFBR2 TGFBR3
9 protein binding GO:0005515 10.16 BMPR2 EDN1 PLAT TGFB1 TGFBR1 TGFBR2

Sources for Eisenmenger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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