MCID: ESN011
MIFTS: 45

Eisenmenger Syndrome malady

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Eisenmenger Syndrome

Aliases & Descriptions for Eisenmenger Syndrome:

Name: Eisenmenger Syndrome 50 56 52
Eisenmenger Complex 69

Characteristics:

Orphanet epidemiological data:

56
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: 56  
Rare respiratory diseases


External Ids:

Orphanet 56 ORPHA97214
ICD10 via Orphanet 34 I27.2

Summaries for Eisenmenger Syndrome

NIH Rare Diseases : 50 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 myocardial infarction and urogenital adysplasia. 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 brain, 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 75)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 28.6 EDN1 PLAT TGFB1 THBD VWF
2 urogenital adysplasia 10.3 THBD VWF
3 pulmonary hypertension 10.2
4 immune-mediated encephalomyelitis 10.2 THBD VWF
5 ventricular septal defect 10.2
6 heart disease 10.2
7 febrile ulceronecrotic mucha-habermann disease 10.1 TGFBR1 TGFBR2
8 infective dermatitis associated with htlv-1 10.1 TGFBR1 TGFBR2
9 immunodeficiency 32a, mycobacteriosis, autosomal dominant 10.1 PLAT THBD
10 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands 10.1 PLAT THBD
11 inflammatory breast carcinoma 10.1 TGFBR1 TGFBR2
12 intellectual developmental disorder with persistence of fetal hemoglobin 10.1 TGFBR1 TGFBR2
13 citrulline transport defect 10.1 BMPR2 EDN1
14 sialadenitis 10.1 EDN1 THBD VWF
15 neonatal diabetes mellitus 10.1 EDN1 THBD VWF
16 acute proliferative glomerulonephritis 10.0 EDN1 THBD VWF
17 secretory diarrhea myopathy and deafness 10.0 PLAT VWF
18 septic myocarditis 10.0 PLAT THBD VWF
19 pregnancy loss, recurrent 1 10.0 PLAT THBD VWF
20 mucolipidoses 10.0 EDN1 PLAT
21 immunodeficiency, common variable, 6 10.0 PLAT THBD VWF
22 congenital chloride diarrhea 10.0 PLAT THBD VWF
23 bone development disease 10.0 PLAT THBD VWF
24 hematocele of tunica vaginalis testis 10.0 BMPR2 EDN1
25 monocular exotropia 10.0 PLAT VWF
26 patent ductus arteriosus 10.0
27 ductal carcinoma in situ 10.0 PLAT THBD
28 budd-chiari syndrome 9.9 PLAT THBD VWF
29 adult t-cell leukemia 9.9 EDN1 PLAT VWF
30 endotheliitis 9.9
31 basilar artery insufficiency 9.9 TGFB1 THBD VWF
32 respiratory syncytial virus infectious disease 9.9 BMPR2 TGFB1 TGFBR1
33 pyrimidine metabolic disorder 9.8 EDN1 PLAT VWF
34 endemic typhus 9.8 TGFB1 TGFBR1 TGFBR2
35 thrombosis 9.8
36 mass syndrome 9.8 TGFB1 TGFBR1 TGFBR2
37 pericarditis 9.8 EDN1 PLAT THBD VWF
38 hypertension, essential 9.8 EDN1 PLAT THBD VWF
39 acute closed-angle glaucoma 9.8 EDN1 TGFB1 TGFBR2
40 herpes simplex 9.8 EDN1 TGFB1 THBD VWF
41 vascular disease 9.7
42 tetralogy of fallot 9.7
43 paraganglioma 9.7
44 aortopulmonary window 9.7
45 down syndrome 9.7
46 fiedler's myocarditis 9.7 BMPR2 EDN1 TGFB1 VWF
47 lymphangioma 9.6
48 intellectual disability 9.6
49 rheumatoid arthritis 9.6
50 thalassemia major 9.6

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:

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

Drugs & Therapeutics for Eisenmenger Syndrome

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

(show all 30)
id 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 Sildenafil Citrate Phase 3,Phase 1,Phase 2 171599-83-0
9 Endothelin A Receptor Antagonists Phase 3
10 Phosphodiesterase 5 Inhibitors Phase 3,Phase 2,Phase 1
11 Phosphodiesterase Inhibitors Phase 3,Phase 2,Phase 1
12 Citrate Nutraceutical Phase 3,Phase 1,Phase 2
13
Citric Acid Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 77-92-9 311
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 54786 6918140
19
Epoprostenol Approved 61849-14-7, 35121-78-9 5280427 5282411
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)
id Name Status NCT ID Phase
1 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
2 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4
3 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4
4 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4
5 Combination Treatment With Bosentan and Sildenafil to Patients With Eisenmengers Syndrome Completed NCT00303004 Phase 3
6 Clinical Study to Evaluate the Effects of Macitentan on Exercise Capacity in Subjects With Eisenmenger Syndrome Completed NCT01743001 Phase 3
7 Clinical Study to Assess the Long-term Safety, Tolerability, and Efficacy of Macitentan in Subjects With Eisenmenger Syndrome Active, not recruiting NCT01739400 Phase 3
8 Therapy of Pulmonary Arterial Hypertension (PAH) - Treatment With Sildenafil in Eisenmenger Patients Terminated NCT00586794 Phase 3
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
11 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2
12 Exercise Capacity and Quality of Life in Patients With PPH Receiving Short Term Oral L-Citrulline Malate Unknown status NCT01683981 Early Phase 1
13 The Effects of Inhaled Iloprost on Congenital Heart Disease With Eisenmenger Syndrome Completed NCT01283958
14 Effects Oxygen Supplementation Determined Better Exercise Capacity in Eisenmenger Syndrome Completed NCT02661802
15 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
16 Eisenmenger's Syndrome in Adults With CHD Completed NCT00266903
17 Six Minutes Walk Test and Shuttle Walk Test in Eisenmenger Syndrome Recruiting NCT02752399
18 Transcatheter Valve Implantation in Patients With Dysfunctional Left and Right Sided Heart Valves Recruiting NCT02119442
19 COMPERA / COMPERA-KIDS Recruiting NCT01347216
20 Eisenmenger Quality Enhancement Research Initiative Active, not recruiting NCT01623492
21 Eisenmenger Syndrome in the Nordic Countries Active, not recruiting NCT01976533
22 Iloprost for the Treatment of Pulmonary Hypertension in Adults With Congenital Heart Disease Terminated NCT01319045

Search NIH Clinical Center for Eisenmenger Syndrome

Genetic Tests for Eisenmenger Syndrome

Anatomical Context for Eisenmenger Syndrome

MalaCards organs/tissues related to Eisenmenger Syndrome:

39
Heart, Lung, Brain, Endothelial, Testes, Breast

Publications for Eisenmenger Syndrome

Articles related to Eisenmenger Syndrome:

(show top 50) (show all 258)
id Title Authors Year
1
Brain metabolite alterations in Eisenmenger syndrome: Evaluation with MR proton spectroscopy. ( 28027769 )
2017
2
Effects of acute oxygen supplementation on functional capacity and heart rate recovery in Eisenmenger syndrome. ( 28082094 )
2017
3
Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome). ( 26829363 )
2016
4
Assessment of the Physiological Adaptations to Chronic Hypoxemia in Eisenmenger Syndrome. ( 27198869 )
2016
5
Electrocardiogram in a Young Woman With the Eisenmenger Syndrome. ( 27287060 )
2016
6
Effects of long-term iloprost treatment on right ventricular function in patients with Eisenmenger syndrome. ( 27492657 )
2016
7
Case 1/2016 - 56-Year-Old Male with Atrial Septal Defect, Pulmonary Arterial Hypertension, Hospitalized Due to Eisenmenger Syndrome. ( 27027369 )
2016
8
Long-term outcomes of pulmonary arterial hypertension under specific drug therapy in Eisenmenger syndrome. ( 27866929 )
2016
9
Brain diffusion changes in Eisenmenger syndrome. ( 27767324 )
2016
10
Current therapy and outcome of Eisenmenger syndrome: data of the German National Register for congenital heart defects. ( 26843280 )
2016
11
Speckle-tracking imaging in patients with Eisenmenger syndrome. ( 26868160 )
2016
12
Eisenmenger syndrome and long-term survival in patients with Down syndrome and congenital heart disease. ( 27325590 )
2016
13
Eisenmenger syndrome in an adult patient with aortopulmonary window. ( 27727969 )
2016
14
Eisenmenger Syndrome in Pregnancy. ( 27849306 )
2016
15
OS 12-06 EFFECT OF LONG-TERM ILOPROST TREATMENT ON THE RIGHT VENTRICULAR FUNCTION IN PATIENTS WITH EISENMENGER SYNDROME. ( 27753979 )
2016
16
18F-FDG PET/CT in a Patient With Glomus Vagale Paraganglioma and Eisenmenger Syndrome: Searching for the Missing Link? ( 26673238 )
2016
17
Advanced Therapy in Eisenmenger Syndrome - A Systematic Review. ( 27054605 )
2016
18
Sleep-disordered breathing in Eisenmenger Syndrome. ( 27055162 )
2016
19
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
20
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
21
OS 12-06 EFFECT OF LONG-TERM ILOPROST TREATMENT ON THE RIGHT VENTRICULAR FUNCTION IN PATIENTS WITH EISENMENGER SYNDROME. ( 27643376 )
2016
22
Anaesthetic management of breast surgery in a patient with Eisenmenger syndrome. ( 27554331 )
2016
23
Sinus Venosus Atrial Septal Defect Complicated by Eisenmenger Syndrome and the Role of Vasodilator Therapy. ( 27974976 )
2016
24
Predictors of Death in Contemporary Adult Patients with Eisenmenger Syndrome: A Multicentre Study. ( 27979875 )
2016
25
Giant retroperitoneal cystic lymphangioma in a patient with Eisenmenger syndrome. ( 26590885 )
2016
26
An intra-cerebral abscess in a patient with Eisenmenger syndrome: An unusual case. ( 26859871 )
2016
27
Current therapy of Eisenmenger syndrome. ( 28066570 )
2016
28
Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome. ( 26471823 )
2015
29
Oxygen Desaturation During Drainage of Brain Abscess in Prone Position in a Child With Eisenmenger Syndrome. ( 26397236 )
2015
30
Clinical and Prognostic Value of Depressive Symptoms and N-Terminal Pro-B-Type Natriuretic Peptide in Patients With Eisenmenger Syndrome. ( 26355727 )
2015
31
Medical treatment for an adult patient with eisenmenger syndrome. ( 25787798 )
2015
32
First description of successful weaning from ECMO in a patient with Eisenmenger syndrome after repair of pulmonary artery dissection. ( 25828338 )
2015
33
Pulmonary arterial wall thickness in Eisenmenger Syndrome: Prospective, cross-sectional, controlled clinical trial. ( 26110269 )
2015
34
Eisenmenger syndrome with unrepaired patent ductus arteriosus. ( 25901073 )
2015
35
Physiological differences between various types of Eisenmenger syndrome and relation to outcome. ( 25465305 )
2015
36
The Sophistication of Simplicity: Ventricular Function and Oximetry Predict Survival in Eisenmenger Syndrome. ( 26659368 )
2015
37
Update on medical treatment of patients with eisenmenger syndrome. ( 25787797 )
2015
38
Catecholamine-secreting paraganglioma in a patient with Eisenmenger syndrome and a single ventricle. Nitric oxide administration and minimally invasive haemodynamic monitoring. ( 26235172 )
2015
39
Incidentally detected right-to-left intracardiac shunt with Eisenmenger syndrome on V/Q SPECT/CT. ( 25573810 )
2015
40
Impaired Right, Left, or Biventricular Function and Resting Oxygen Saturation Are Associated With Mortality in Eisenmenger Syndrome: A Clinical and Cardiovascular Magnetic Resonance Study. ( 26659374 )
2015
41
Pulmonary arterial hypertension associated with congenital heart disease and Eisenmenger syndrome: current practice in pediatrics. ( 25604592 )
2015
42
Perioperative Care of Children with Eisenmenger Syndrome Undergoing Non-cardiac Surgery. ( 25958153 )
2015
43
Aortopulmonary Window and Interrupted Aortic Arch With Eisenmenger Syndrome in an Adult. ( 26416632 )
2015
44
Life span of patients with Eisenmenger syndrome is not superior to that of patients with other causes of pulmonary hypertension. ( 25414820 )
2014
45
Pulmonary hypertensive vascular changes in lungs of patients with sudden unexpected death. Emphasis on congenital heart disease, Eisenmenger syndrome, postoperative deaths and death during pregnancy and postpartum. ( 25342758 )
2014
46
Pulmonary hypertension in adults with congenital heart disease and Eisenmenger syndrome: current advanced management strategies. ( 24829371 )
2014
47
P-wave and QT interval dispersion analysis in children with Eisenmenger syndrome. ( 24643147 )
2014
48
Oral l-citrulline malate in patients with idiopathic pulmonary arterial hypertension and Eisenmenger Syndrome: a clinical trial. ( 24525046 )
2014
49
Lung function and gas exchange in Eisenmenger syndrome and their impact on exercise capacity and survival. ( 24331639 )
2014
50
Repair of ventricular septal defect with Eisenmenger syndrome after bosentan treatment. ( 24612361 )
2014

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)
id 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
12.77 TGFB1 TGFBR1 TGFBR2 TGFBR3
4
Show member pathways
12.76 PLAT TGFB1 TGFBR1 TGFBR2
5
Show member pathways
12.73 EDN1 TGFB1 TGFBR1 TGFBR2 TGFBR3
6
Show member pathways
12.36 BMPR2 TGFB1 TGFBR1 TGFBR2
7
Show member pathways
12.22 TGFB1 TGFBR1 TGFBR2
8
Show member pathways
12.16 TGFB1 TGFBR1 TGFBR2
9 12.14 BMPR2 TGFB1 TGFBR1 TGFBR3
10
Show member pathways
12.09 TGFB1 TGFBR1 TGFBR2
11 12.06 TGFB1 TGFBR1 TGFBR2
12 12.06 BMPR2 TGFB1 TGFBR1 TGFBR2
13
Show member pathways
12.05 PLAT THBD VWF
14
Show member pathways
12.04 TGFBR1 TGFBR2 TGFBR3
15
Show member pathways
12.03 EDN1 TGFB1 TGFBR1
16 12.01 BMPR2 TGFBR1 TGFBR2
17 12.01 BMPR2 EDN1 PLAT THBD
18
Show member pathways
11.98 TGFB1 TGFBR1 TGFBR2
19 11.98 TGFB1 TGFBR1 TGFBR2 TGFBR3
20
Show member pathways
11.96 TGFB1 TGFBR1 TGFBR2
21 11.95 PLAT THBD VWF
22
Show member pathways
11.94 TGFB1 TGFBR1 TGFBR2
23 11.91 TGFB1 TGFBR1 TGFBR2
24
Show member pathways
11.82 TGFB1 TGFBR1 TGFBR2 TGFBR3
25 11.8 TGFB1 TGFBR1 TGFBR2 TGFBR3
26
Show member pathways
11.76 TGFB1 TGFBR1 TGFBR2
27 11.72 TGFB1 TGFBR1 TGFBR3 VWF
28 11.68 BMPR2 TGFB1 TGFBR1 TGFBR2
29 11.64 TGFB1 TGFBR1 TGFBR2
30
Show member pathways
11.62 TGFB1 TGFBR1 TGFBR2
31
Show member pathways
11.62 BMPR2 TGFB1 TGFBR1 TGFBR2
32 11.58 TGFB1 TGFBR1 TGFBR2
33 11.55 EDN1 TGFB1 TGFBR1 TGFBR2 THBD
34 11.47 TGFB1 TGFBR1 TGFBR2 TGFBR3
35
Show member pathways
11.4 TGFB1 TGFBR1 TGFBR2
36 11.38 TGFB1 TGFBR1 TGFBR2 TGFBR3
37 11.14 TGFB1 TGFBR1 TGFBR2
38 11.1 TGFBR1 TGFBR2 TGFBR3
39 11.1 TGFB1 TGFBR1 TGFBR2 TGFBR3
40
Show member pathways
10.99 BMPR2 TGFB1 TGFBR1 TGFBR2
41 10.97 TGFBR1 TGFBR2
42 10.71 PLAT TGFB1 TGFBR1 TGFBR2 TGFBR3
43 10.58 TGFB1 TGFBR1 TGFBR2 TGFBR3

GO Terms for Eisenmenger Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 BMPR2 EDN1 PLAT TGFB1 TGFBR3 THBD
2 receptor complex GO:0043235 9.5 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)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.89 EDN1 TGFB1 TGFBR1 TGFBR2 VIP
2 regulation of cell proliferation GO:0042127 9.88 BMPR2 TGFB1 TGFBR2
3 heart development GO:0007507 9.88 EDN1 TGFB1 TGFBR1 TGFBR2
4 in utero embryonic development GO:0001701 9.86 EDN1 TGFBR1 TGFBR2
5 regulation of gene expression GO:0010468 9.86 TGFB1 TGFBR1 TGFBR2
6 blood coagulation GO:0007596 9.85 PLAT THBD VWF
7 positive regulation of cell migration GO:0030335 9.85 EDN1 TGFB1 TGFBR1
8 wound healing GO:0042060 9.81 TGFB1 TGFBR1 TGFBR2
9 BMP signaling pathway GO:0030509 9.79 BMPR2 TGFB1 TGFBR3
10 palate development GO:0060021 9.79 TGFBR1 TGFBR2 TGFBR3
11 cellular response to transforming growth factor beta stimulus GO:0071560 9.75 EDN1 TGFB1 TGFBR1
12 cell growth GO:0016049 9.74 EDN1 TGFB1 TGFBR3
13 signal transduction by protein phosphorylation GO:0023014 9.73 BMPR2 TGFBR1 TGFBR2
14 positive regulation of epithelial cell migration GO:0010634 9.7 BMPR2 TGFBR2
15 lens development in camera-type eye GO:0002088 9.7 TGFBR1 TGFBR2
16 animal organ regeneration GO:0031100 9.7 TGFB1 TGFBR2 TGFBR3
17 positive regulation of bone mineralization GO:0030501 9.69 BMPR2 TGFB1
18 embryonic cranial skeleton morphogenesis GO:0048701 9.69 TGFBR1 TGFBR2
19 digestive tract development GO:0048565 9.69 TGFB1 TGFBR2
20 outflow tract morphogenesis GO:0003151 9.69 BMPR2 TGFBR2 TGFBR3
21 branching involved in blood vessel morphogenesis GO:0001569 9.68 EDN1 TGFBR2
22 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.67 TGFB1 TGFBR3
23 outflow tract septum morphogenesis GO:0003148 9.67 BMPR2 TGFBR2
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 cardiac epithelial to mesenchymal transition GO:0060317 9.65 TGFBR1 TGFBR3
30 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.65 BMPR2 TGFB1 TGFBR1
31 positive regulation of SMAD protein import into nucleus GO:0060391 9.64 TGFB1 TGFBR1
32 atrioventricular valve morphogenesis GO:0003181 9.64 BMPR2 TGFBR2
33 body fluid secretion GO:0007589 9.63 EDN1 VIP
34 epithelial to mesenchymal transition GO:0001837 9.63 TGFB1 TGFBR1 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 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 TGFB1 TGFBR1 TGFBR2
39 common-partner SMAD protein phosphorylation GO:0007182 9.6 TGFB1 TGFBR2
40 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.59 TGFBR1 TGFBR2
41 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.58 BMPR2 TGFBR1 TGFBR2
42 positive regulation of odontogenesis GO:0042482 9.55 EDN1 TGFB1
43 response to hypoxia GO:0001666 9.55 EDN1 PLAT TGFB1 TGFBR2 TGFBR3
44 tricuspid valve morphogenesis GO:0003186 9.54 BMPR2 TGFBR2
45 response to cholesterol GO:0070723 9.43 TGFB1 TGFBR1 TGFBR2
46 ventricular septum morphogenesis GO:0060412 9.26 BMPR2 TGFBR1 TGFBR2 TGFBR3
47 pathway-restricted SMAD protein phosphorylation GO:0060389 8.92 TGFB1 TGFBR1 TGFBR2 TGFBR3
48 protein phosphorylation GO:0006468 10 BMPR2 TGFB1 TGFBR1 TGFBR2

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

id Name GO ID Score Top Affiliating Genes
1 glycoprotein binding GO:0001948 9.58 PLAT TGFB1 VWF
2 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.54 BMPR2 TGFBR1 TGFBR2
3 SMAD binding GO:0046332 9.5 TGFBR1 TGFBR2 TGFBR3
4 glycosaminoglycan binding GO:0005539 9.46 TGFBR2 TGFBR3
5 type I transforming growth factor beta receptor binding GO:0034713 9.43 TGFB1 TGFBR2
6 transforming growth factor beta binding GO:0050431 9.43 TGFBR1 TGFBR2 TGFBR3
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
10 protein binding GO:0005515 10.18 BMPR2 EDN1 PLAT TGFB1 TGFBR1 TGFBR2

Sources for Eisenmenger Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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