MCID: HRT015
MIFTS: 44

Heritable Pulmonary Arterial Hypertension

Categories: Genetic diseases, Respiratory diseases, Rare diseases

Aliases & Classifications for Heritable Pulmonary Arterial Hypertension

MalaCards integrated aliases for Heritable Pulmonary Arterial Hypertension:

Name: Heritable Pulmonary Arterial Hypertension 23 24 56
Hereditary Pulmonary Arterial Hypertension 56
Familial Pulmonary Arterial Hypertension 56
Familial Primary Pulmonary Hypertension 69
Bmpr2-Related Pph 24
Pah, Heritable 24
Fpah 56
Hpah 56

Characteristics:

Orphanet epidemiological data:

56
heritable pulmonary arterial hypertension
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (France),1-9/1000000 (Czech Republic); Age of onset: All ages; Age of death: any age;

GeneReviews:

23
Penetrance Penetrance (i.e., the presence of symptoms in an individual with a bmpr2 pathogenic variant) is 20% [newman et al 2001]...

Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

Orphanet 56 ORPHA275777
UMLS via Orphanet 70 C1701939 C0340543
ICD10 via Orphanet 34 I27.0

Summaries for Heritable Pulmonary Arterial Hypertension

MalaCards based summary : Heritable Pulmonary Arterial Hypertension, also known as hereditary pulmonary arterial hypertension, is related to familial pulmonary arterial hypertension leucopenia and atrial septal defect and idiopathic and/or familial pulmonary arterial hypertension. An important gene associated with Heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Signaling by BMP. The drugs Adempas and Bosentan have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and behavior/neurological

GeneReviews: NBK1485

Related Diseases for Heritable Pulmonary Arterial Hypertension

Graphical network of the top 20 diseases related to Heritable Pulmonary Arterial Hypertension:



Diseases related to Heritable Pulmonary Arterial Hypertension

Symptoms & Phenotypes for Heritable Pulmonary Arterial Hypertension

GenomeRNAi Phenotypes related to Heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 TBX4 ACVRL1 BMPR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.55 ACVRL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.55 TBX4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 ACVRL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.55 ACVRL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.55 BMPR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 ACVRL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.55 BMPR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 ACVRL1 TBX4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.55 ACVRL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.55 BMPR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.55 ACVRL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 ACVRL1 BMPR2
14 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 ACVRL1 BMPR2 EIF2AK4

MGI Mouse Phenotypes related to Heritable Pulmonary Arterial Hypertension:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KCNK3
2 cardiovascular system MP:0005385 10 ACVRL1 BMPR2 CAV1 ENG KCNK3 SMAD9
3 growth/size/body region MP:0005378 9.95 ENG SMAD9 TBX4 ACVRL1 BMPR2 CAV1
4 homeostasis/metabolism MP:0005376 9.91 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KCNK3
5 mortality/aging MP:0010768 9.87 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG SMAD9
6 embryo MP:0005380 9.83 ACVRL1 BMPR2 ENG SMAD9 TBX4
7 nervous system MP:0003631 9.76 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KCNK3
8 muscle MP:0005369 9.73 BMPR2 CAV1 EIF2AK4 ENG SMAD9 ACVRL1
9 normal MP:0002873 9.43 ACVRL1 BMPR2 ENG KCNK3 SMAD9 TBX4
10 respiratory system MP:0005388 9.1 ACVRL1 BMPR2 CAV1 ENG KCNK3 SMAD9

Drugs & Therapeutics for Heritable Pulmonary Arterial Hypertension

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Adempas 17 RIOCIGUAT Bayer Healthcare Pharmaceuticals October 2013

Drugs for Heritable Pulmonary Arterial Hypertension (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 280)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 147536-97-8 104865
2
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 78919-13-8 6443959
3
Iron Approved Phase 4,Phase 2 7439-89-6 23925
4
Spironolactone Approved Phase 4,Phase 1,Phase 2 1952-01-7, 52-01-7 5833
5
Epoprostenol Approved Phase 4,Phase 3,Phase 2 61849-14-7, 35121-78-9 5280427 5282411
6
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 171596-29-5 110635
7
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 81846-19-7 54786 6918140
8
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
9
Clevidipine Approved Phase 4 167221-71-8
10
Macitentan Approved Phase 4,Phase 3,Phase 1 441798-33-0
11 Selexipag Approved Phase 4,Phase 3,Phase 2 475086-01-2
12
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
13 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
16 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
18 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
19 Sildenafil Citrate Phase 4,Phase 2,Phase 3,Phase 1 171599-83-0
20 Micronutrients Phase 4,Phase 2,Phase 1
21 Trace Elements Phase 4,Phase 2,Phase 1
22 diuretics Phase 4,Phase 1,Phase 2
23 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 1,Phase 2
24 Hormone Antagonists Phase 4,Phase 2,Phase 1
25 Hormones Phase 4,Phase 2,Phase 1
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1
27 Mineralocorticoid Receptor Antagonists Phase 4,Phase 1,Phase 2
28 Mineralocorticoids Phase 4,Phase 1,Phase 2
29 Natriuretic Agents Phase 4,Phase 1,Phase 2
30 Sodium Channel Blockers Phase 4,Phase 3,Phase 1
31 Tezosentan Phase 4,Phase 3,Phase 2
32 Vardenafil Dihydrochloride Phase 4,Phase 3
33 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
34 calcium channel blockers Phase 4,Phase 1
35 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1
36 Anticoagulants Phase 4,Phase 2,Phase 3
37 Chelating Agents Phase 4,Phase 2,Phase 3
38 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
39 Endothelin A Receptor Antagonists Phase 4,Phase 3,Phase 1
40 Liver Extracts Phase 4,Phase 2
41 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
42 Natriuretic Peptide, Brain Phase 4
43 Anesthetics Phase 4,Phase 2
44 Central Nervous System Depressants Phase 4,Phase 2
45 Anesthetics, Local Phase 4
46 Citrate Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
47
Citric Acid Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 77-92-9 311
48 Calamus Nutraceutical Phase 4,Phase 3,Phase 2
49
Nitric Oxide Approved Phase 3,Phase 2,Phase 1,Early Phase 1 10102-43-9 145068
50
Benzocaine Approved Phase 3,Phase 2 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 514)

id Name Status NCT ID Phase Drugs
1 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis and Treatment With Bosentan Unknown status NCT00625469 Phase 4 bosentan
2 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
3 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil Unknown status NCT00625079 Phase 4 sildenafil;sildenafil
4 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
5 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4 oral sildenafil
6 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
7 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
8 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
9 Hypotonic Treprostinil Subcutaneous Infusion for Control of Treprostinil Related Site Pain Unknown status NCT01615627 Phase 4 HypotonicTreprostinil Solution;Eutonic Treprostinil Solution
10 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Unknown status NCT01051960 Phase 4 Ambrisentan
11 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
12 Epoprostenol for Injection in Pulmonary Arterial Hypertension - Extension of AC-066A401 Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
13 Epoprostenol for Injection in Pulmonary Arterial Hypertension Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
14 An Open-Label Uncontrolled Study of the Safety and Efficacy of Ambrisentan in Participants With Exercise-Induced Pulmonary Arterial Hypertension (PAH) Completed NCT01338636 Phase 4 Ambrisentan
15 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
16 Study of Add-on Ambrisentan Therapy to Background Phosphodiesterase Type-5 Inhibitor (PDE5i) Therapy in Pulmonary Arterial Hypertension (ATHENA-1) Completed NCT00617305 Phase 4 Ambrisentan;Placebo;Sildenafil;Tadalafil
17 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
18 Post-Marketing Surveillance of Ventavis® in Chinese Patients With Primary Pulmonary Hypertension (PPH) Completed NCT00882947 Phase 4 Ventavis (Iloprost, BAYQ6256)
19 A Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
20 Safety Evaluation of Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis in Pulmonary Arterial Hypertension (PAH) Subjects Completed NCT00741819 Phase 4 Inhaled treprostinil
21 Effects of the Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Pulmonary Arterial Hypertension (PAH) Completed NCT00303459 Phase 4 bosentan;placebo
22 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
23 Combination Therapy in Pulmonary Arterial Hypertension Completed NCT00433329 Phase 4 Bosentan;Sildenafil
24 Assess the Efficacy and Safety of Sildenafil When Added to Bosentan in the Treatment of Pulmonary Arterial Hypertension Completed NCT00323297 Phase 4 Bosentan;Bosentan;Sildenafil Citrate
25 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
26 Study Of Right Ventricular Performance In PAH Patients Treated With Rapid Dose Treprostinil (Remodulin) Completed NCT02074449 Phase 4
27 Study of a New Thermo Stable Formulation of Epoprostenol Sodium to Treat Pulmonary Arterial Hypertension (PAH) Completed NCT01462565 Phase 4 current marketed FLOLAN (epoprostenol sodium);new thermo stable formulation of epoprostenol sodium
28 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
29 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
30 Measuring Outcomes In Patients With Pulmonary Arterial Hypertension Not on Active Treatment (MOTION) Completed NCT02191137 Phase 4 Riociguat (Adempas, BAY63-2521)
31 Transition From Injectable Prostacyclin Medication to Inhaled Prostacyclin Medication Completed NCT01268553 Phase 4 Treprostinil
32 Safety and Tolerability of Rapid Dose Titration of Subcutaneous Remodulin® Therapy in PAH Subjects (RAPID) Completed NCT02847260 Phase 4 Remodulin
33 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
34 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
35 The Effect of Tracleer® on Male Fertility Completed NCT00082186 Phase 4 bosentan
36 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4 bosentan
37 Evaluation of a New Thermostable Formulation of FLOLAN in Japanese Subjects Completed NCT02705807 Phase 4 FLOLAN injection with currently marketed diluent;FLOLAN injection with reformulated diluent
38 A 48-week Study of the Effect of Dual Therapy (Inhaled Treprostinil and Tadafafil) Versus Monotherapy (Tadalafil). Completed NCT01305252 Phase 4 treprostinil inhalations;tadalafil
39 Safety, Efficacy and Treatment Satisfaction in Patients With PAH Rapidly Switched From Epoprostenol to Remodulin Completed NCT00373360 Phase 4 treprostinil sodium
40 Study of Sildenafil Effects in Combination With Rehabilitation in Patients With Chronic Obstructive Pulmonary Disease (COPD) and Associated Pulmonary Hypertension Completed NCT01055405 Phase 4 Sildenafil
41 Clevidipine for Vasoreactivity Evaluation of the Pulmonary Arterial Bed Completed NCT01121458 Phase 4 Clevidipine
42 Sildenafil Effects on Pulmonary Haemodynamics and Gas Exchange in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
43 REPAIR: Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Recruiting NCT02310672 Phase 4 Macitentan
44 The Combination Ambrisentan Plus Spironolactone in Pulmonary Arterial Hypertension Study Recruiting NCT02253394 Phase 4 Ambrisentan plus Spironolactone;Ambrisentan plus Placebo
45 Clinical Study Evaluating the Effects of First-line Oral cOmbination theraPy of maciTentan and tadalafIl in Patients With Newly Diagnosed pulMonary Arterial Hypertension (OPTIMA) Recruiting NCT02968901 Phase 4 macitentan;tadalafil
46 To Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Recruiting NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
47 Effect of BMPR-2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension Recruiting NCT01054105 Phase 4 Iloprost
48 Riociguat rEplacing PDE-5i Therapy evaLuated Against Continued PDE-5i thErapy Recruiting NCT02891850 Phase 4 Adempas (Riociguat, BAY63-2521);Sildenafil;Tadalafil
49 Crossover Study From Macitentan or Bosentan Over to Ambrisentan Recruiting NCT02885012 Phase 4 Ambrisentan
50 Effects of Oral Sildenafil on Mortality in Adults With PAH Recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate

Search NIH Clinical Center for Heritable Pulmonary Arterial Hypertension

Genetic Tests for Heritable Pulmonary Arterial Hypertension

Genetic tests related to Heritable Pulmonary Arterial Hypertension:

id Genetic test Affiliating Genes
1 Heritable Pulmonary Arterial Hypertension 24 BMPR2

Anatomical Context for Heritable Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Heritable Pulmonary Arterial Hypertension:

39
Lung, Heart, Testes, Endothelial, Liver, Bone, Brain

Publications for Heritable Pulmonary Arterial Hypertension

Articles related to Heritable Pulmonary Arterial Hypertension:

(show all 36)
id Title Authors Year
1
Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension. ( 28267959 )
2017
2
Left main coronary artery compression by a dilated main pulmonary artery and left coronary sinus of Valsalva aneurysm in a patient with heritable pulmonary arterial hypertension and FLNA mutation. ( 28660794 )
2017
3
Pulmonary arterial capacitance index is a strong predictor for adverse outcome in children with idiopathic and heritable pulmonary arterial hypertension: methodological issues to avoid misinterpretation. ( 28434572 )
2017
4
Tadalafil in idiopathic or heritable pulmonary arterial hypertension (PAH) compared to PAH associated with connective tissue disease. ( 28279499 )
2017
5
Hypermethylation of BMPR2 Promoter Occurs in Patients with Heritable Pulmonary Arterial Hypertension and Inhibits BMPR2 Expression. ( 28170297 )
2017
6
Clinical Impact of Main Pulmonary Artery Dilatation on Outcome in Pediatric Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 28904266 )
2017
7
Pulmonary Arterial Capacitance Index Is a Strong Predictor for Adverse Outcome in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 27810156 )
2017
8
First identification of KrA1ppel-like factor 2 mutation in heritable pulmonary arterial hypertension. ( 28188237 )
2017
9
Serotonin 2B Receptor Antagonism Prevents Heritable Pulmonary Arterial Hypertension. ( 26863209 )
2016
10
Pregnancy as a possible trigger for heritable pulmonary arterial hypertension. ( 27683615 )
2016
11
Rapid and high-dose titration of epoprostenol improves pulmonary hemodynamics and clinical outcomes in patients with idiopathic and heritable pulmonary arterial hypertension. ( 27005767 )
2016
12
From bone morphogenic protein receptor II mutations to heritable pulmonary arterial hypertension-the long and winding road. ( 27646063 )
2016
13
Elevated levels of plasma transforming growth factor-I^1 in idiopathic and heritable pulmonary arterial hypertension. ( 27500766 )
2016
14
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. ( 25612240 )
2015
15
Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia. ( 24948783 )
2014
16
MULTIFOCAL CENTRAL SEROUS CHORIORETINOPATHY WITH PHOTORECEPTOR-RETINAL PIGMENT EPITHELIUM DIASTASIS IN HERITABLE PULMONARY ARTERIAL HYPERTENSION. ( 25383848 )
2014
17
Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years. ( 24621962 )
2014
18
Long-term patient survival with idiopathic/heritable pulmonary arterial hypertension treated at a single center in Japan. ( 24530872 )
2014
19
Spleen size in idiopathic and heritable pulmonary arterial hypertension. ( 22869505 )
2013
20
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 23579436 )
2013
21
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 25356964 )
2013
22
Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension. ( 24224048 )
2013
23
Evidence for Right Ventricular Lipotoxicity in Heritable Pulmonary Arterial Hypertension. ( 24274756 )
2013
24
Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance. ( 22923426 )
2012
25
Cardiopulmonary exercise testing reveals onset of disease and response to treatment in a case of heritable pulmonary arterial hypertension. ( 23130108 )
2012
26
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. ( 21737554 )
2012
27
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. ( 22923661 )
2012
28
Prevalence and prognostic value of left ventricular diastolic dysfunction in idiopathic and heritable pulmonary arterial hypertension. ( 22207680 )
2012
29
Heritable pulmonary arterial hypertension with elevated pulmonary wedge pressure. ( 22927477 )
2012
30
Impaired natural killer cell phenotype and function in idiopathic and heritable pulmonary arterial hypertension. ( 22832786 )
2012
31
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. ( 21920918 )
2011
32
Unexplained iron deficiency in idiopathic and heritable pulmonary arterial hypertension. ( 21297151 )
2011
33
BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension. ( 20562228 )
2010
34
Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension. ( 21030519 )
2010
35
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. ( 19785764 )
2009
36
Heritable Pulmonary Arterial Hypertension ( 20301658 )
1993

Variations for Heritable Pulmonary Arterial Hypertension

Expression for Heritable Pulmonary Arterial Hypertension

Search GEO for disease gene expression data for Heritable Pulmonary Arterial Hypertension.

Pathways for Heritable Pulmonary Arterial Hypertension

Pathways related to Heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.76 BMPR2 ENG SMAD9
2
Show member pathways
11.26 BMPR2 SMAD9
3 11.13 ENG SMAD9
4 11.13 ACVRL1 ENG SMAD9
5 10.6 BMPR2 SMAD9
6
Show member pathways
10.36 ACVRL1 BMPR2 CAV1 SMAD9
7 10.2 BMPR2 SMAD9

GO Terms for Heritable Pulmonary Arterial Hypertension

Cellular components related to Heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 caveola GO:0005901 8.62 BMPR2 CAV1

Biological processes related to Heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.87 ACVRL1 BMPR2 EIF2AK4 SMAD9
2 angiogenesis GO:0001525 9.67 ACVRL1 CAV1 ENG TBX4
3 positive regulation of endothelial cell proliferation GO:0001938 9.62 ACVRL1 BMPR2
4 cellular response to transforming growth factor beta stimulus GO:0071560 9.62 ACVRL1 CAV1
5 vasculogenesis GO:0001570 9.61 CAV1 ENG
6 bone development GO:0060348 9.61 ENG SMAD9
7 signal transduction by protein phosphorylation GO:0023014 9.6 ACVRL1 BMPR2
8 negative regulation of endothelial cell proliferation GO:0001937 9.59 ACVRL1 CAV1
9 blood vessel remodeling GO:0001974 9.58 ACVRL1 BMPR2
10 outflow tract septum morphogenesis GO:0003148 9.58 BMPR2 ENG
11 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.56 ACVRL1 BMPR2
12 activin receptor signaling pathway GO:0032924 9.55 ACVRL1 BMPR2
13 endocardial cushion morphogenesis GO:0003203 9.54 ACVRL1 ENG
14 negative regulation of DNA biosynthetic process GO:2000279 9.52 ACVRL1 BMPR2
15 lymphangiogenesis GO:0001946 9.51 ACVRL1 BMPR2
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.5 ACVRL1 BMPR2 ENG
17 artery development GO:0060840 9.49 ACVRL1 BMPR2
18 retina vasculature development in camera-type eye GO:0061298 9.48 ACVRL1 BMPR2
19 dorsal aorta morphogenesis GO:0035912 9.46 ACVRL1 ENG
20 lymphatic endothelial cell differentiation GO:0060836 9.43 ACVRL1 BMPR2
21 venous blood vessel development GO:0060841 9.4 ACVRL1 BMPR2
22 cellular response to BMP stimulus GO:0071773 9.33 ACVRL1 BMPR2 SMAD9
23 endocardial cushion to mesenchymal transition GO:0090500 9.26 ACVRL1 ENG
24 positive regulation of BMP signaling pathway GO:0030513 9.13 ACVRL1 BMPR2 ENG
25 BMP signaling pathway GO:0030509 8.92 ACVRL1 BMPR2 ENG SMAD9

Molecular functions related to Heritable Pulmonary Arterial Hypertension according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.58 ACVRL1 BMPR2 EIF2AK4
2 transforming growth factor beta binding GO:0050431 9.37 ACVRL1 ENG
3 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.32 ACVRL1 BMPR2
4 activin binding GO:0048185 9.26 ACVRL1 ENG
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
6 BMP binding GO:0036122 8.96 BMPR2 ENG
7 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2

Sources for Heritable Pulmonary Arterial Hypertension

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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