MCID: HRT015
MIFTS: 48

Heritable Pulmonary Arterial Hypertension

Categories: Respiratory diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Heritable Pulmonary Arterial Hypertension

MalaCards integrated aliases for Heritable Pulmonary Arterial Hypertension:

Name: Heritable Pulmonary Arterial Hypertension 24 59
Hereditary Pulmonary Arterial Hypertension 59
Familial Pulmonary Arterial Hypertension 59
Familial Primary Pulmonary Hypertension 73
Fpah 59
Hpah 59

Characteristics:

Orphanet epidemiological data:

59
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:

24
Penetrance Penetrance (i.e., the presence of symptoms in an individual with a bmpr2 pathogenic variant) is 20% [newman et al 2001]...

Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Orphanet 59 ORPHA275777
UMLS via Orphanet 74 C0340543 C1701939
ICD10 via Orphanet 34 I27.0
UMLS 73 C0340543

Summaries for Heritable Pulmonary Arterial Hypertension

MalaCards based summary : Heritable Pulmonary Arterial Hypertension, also known as hereditary pulmonary arterial hypertension, is related to pulmonary hypertension, primary, 1 and familial pulmonary arterial hypertension leucopenia and atrial septal defect. An important gene associated with Heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are BMP Pathway and Human Embryonic Stem Cell Pluripotency. The drugs Adempas and Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.89 TBX4 ACVRL1 BMPR2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.89 ACVRL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.89 TBX4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.89 ACVRL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.89 ACVRL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.89 BMPR2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.89 ACVRL1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.89 BMPR2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.89 TBX4 ACVRL1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.89 ACVRL1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.89 BMPR2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.89 ACVRL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.89 ACVRL1 BMPR2
14 Reduced mammosphere formation GR00396-S 9.02 BMPR2 CAV1 EIF2AK4 KCNK3 TGFB1

MGI Mouse Phenotypes related to Heritable Pulmonary Arterial Hypertension:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 CAV1 ENG KCNK3 KLF2 SMAD9 TBX4
2 behavior/neurological MP:0005386 10.14 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KCNK3
3 growth/size/body region MP:0005378 10.13 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KLF2
4 homeostasis/metabolism MP:0005376 10.09 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KCNK3
5 embryo MP:0005380 10.04 SMAD9 TBX4 TGFB1 ACVRL1 BMPR2 ENG
6 mortality/aging MP:0010768 10.02 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KLF2
7 hematopoietic system MP:0005397 10 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KLF2
8 muscle MP:0005369 9.92 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KLF2
9 craniofacial MP:0005382 9.91 ACVRL1 ENG KLF2 SMAD9 TGFB1
10 nervous system MP:0003631 9.91 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KCNK3
11 liver/biliary system MP:0005370 9.8 EIF2AK4 KLF2 TGFB1 ACVRL1 CAV1
12 normal MP:0002873 9.7 ACVRL1 BMPR2 ENG KCNK3 KLF2 SMAD9
13 respiratory system MP:0005388 9.56 ACVRL1 BMPR2 CAV1 ENG KCNK3 KLF2
14 skeleton MP:0005390 9.1 BMPR2 CAV1 KLF2 SMAD9 TBX4 TGFB1

Drugs & Therapeutics for Heritable Pulmonary Arterial Hypertension

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Adempas 18 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 301)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4,Phase 1,Phase 2,Not Applicable 1952-01-7, 52-01-7 5833
2
Iron Approved Phase 4,Phase 2,Not Applicable 7439-89-6 23925
3
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81846-19-7 54786 6918140
4
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 147536-97-8 104865
5
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 78919-13-8 6443959
6
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 171596-29-5 110635
7
Macitentan Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 441798-33-0
8
Epoprostenol Approved Phase 4,Phase 3,Phase 2,Not Applicable 61849-14-7, 35121-78-9 5280427 5282411
9
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
10
Clevidipine Approved, Investigational Phase 4 167221-71-8
11 Selexipag Approved Phase 4,Phase 3,Phase 2 475086-01-2
12
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
13
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 77-92-9 311
14 Tezosentan Investigational Phase 4,Phase 3,Phase 2,Not Applicable 180384-57-0
15 Sildenafil Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 171599-83-0
16 calcium channel blockers Phase 4,Phase 1,Not Applicable
17 diuretics Phase 4,Phase 1,Phase 2,Not Applicable
18 Micronutrients Phase 4,Phase 2,Phase 1,Not Applicable
19 Chelating Agents Phase 4,Phase 2,Phase 3,Not Applicable
20 Mineralocorticoid Receptor Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
21 Mineralocorticoids Phase 4,Phase 1,Phase 2,Not Applicable
22 Natriuretic Agents Phase 4,Phase 1,Phase 2,Not Applicable
23 Sodium Channel Blockers Phase 4,Phase 3,Phase 1
24 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
25 Trace Elements Phase 4,Phase 2,Phase 1,Not Applicable
26 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
27 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
28 Vardenafil Dihydrochloride Phase 4,Phase 3
29 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
30 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Endothelin A Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
34 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
38 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Anticoagulants Phase 4,Phase 2,Phase 3,Not Applicable
40 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
42 Liver Extracts Phase 4,Phase 2
43 Central Nervous System Depressants Phase 4,Phase 2
44 Natriuretic Peptide, Brain Phase 4
45 Anesthetics Phase 4,Phase 2
46 Anesthetics, Local Phase 4
47 Citrate Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Calamus Nutraceutical Phase 4,Phase 3,Phase 2
49
Nitric Oxide Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 10102-43-9 145068 160954
50
Ranolazine Approved, Investigational Phase 3,Phase 1 142387-99-3, 95635-55-5 56959

Interventional clinical trials:

(show top 50) (show all 553)
# Name Status NCT ID Phase Drugs
1 Effect of BMPR-2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension Unknown status NCT01054105 Phase 4 Iloprost
2 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
3 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4 oral sildenafil
4 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
5 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
6 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
7 Hypotonic Treprostinil Subcutaneous Infusion for Control of Treprostinil Related Site Pain Unknown status NCT01615627 Phase 4 HypotonicTreprostinil Solution;Eutonic Treprostinil Solution
8 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
9 Epoprostenol for Injection in Pulmonary Arterial Hypertension - Extension of AC-066A401 Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
10 Epoprostenol for Injection in Pulmonary Arterial Hypertension Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
11 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
12 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
13 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
14 Safety And Efficacy Of Sildenafil In Children With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
15 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
16 Safety Evaluation of Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis in Pulmonary Arterial Hypertension (PAH) Subjects Completed NCT00741819 Phase 4 Inhaled treprostinil
17 Effects of the Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Pulmonary Arterial Hypertension (PAH) Completed NCT00303459 Phase 4 bosentan;placebo
18 A Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
19 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
20 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
21 Combination Therapy in Pulmonary Arterial Hypertension Completed NCT00433329 Phase 4 Bosentan;Sildenafil
22 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
23 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
24 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
25 Measuring Outcomes In Patients With Pulmonary Arterial Hypertension Not on Active Treatment (MOTION) Completed NCT02191137 Phase 4 Riociguat (Adempas, BAY63-2521)
26 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
27 Transition From Injectable Prostacyclin Medication to Inhaled Prostacyclin Medication Completed NCT01268553 Phase 4 Treprostinil
28 Safety and Tolerability of Rapid Dose Titration of Subcutaneous Remodulin® Therapy in PAH Subjects (RAPID) Completed NCT02847260 Phase 4 Remodulin
29 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
30 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
31 The Effect of Tracleer® on Male Fertility Completed NCT00082186 Phase 4 bosentan
32 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4 bosentan
33 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
34 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Children Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
35 A 48-week Study of the Effect of Dual Therapy (Inhaled Treprostinil and Tadafafil) Versus Monotherapy (Tadalafil). Completed NCT01305252 Phase 4 treprostinil inhalations;tadalafil
36 Safety, Efficacy and Treatment Satisfaction in Patients With PAH Rapidly Switched From Epoprostenol to Remodulin Completed NCT00373360 Phase 4 treprostinil sodium
37 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Completed NCT01051960 Phase 4 Ambrisentan
38 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
39 Clevidipine for Vasoreactivity Evaluation of the Pulmonary Arterial Bed Completed NCT01121458 Phase 4 Clevidipine
40 Sildenafil Effects on Pulmonary Haemodynamics and Gas Exchange in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
41 REPAIR: Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Recruiting NCT02310672 Phase 4 Macitentan
42 The Combination Ambrisentan Plus Spironolactone in Pulmonary Arterial Hypertension Study Recruiting NCT02253394 Phase 4 Ambrisentan plus Spironolactone;Ambrisentan plus Placebo
43 Effect of Selexipag on Daily Life Physical Activity of Patients With Pulmonary Arterial Hypertension. Recruiting NCT03078907 Phase 4 Selexipag;Placebo
44 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
45 Riociguat rEplacing PDE-5i Therapy evaLuated Against Continued PDE-5i thErapy Recruiting NCT02891850 Phase 4 Adempas (Riociguat, BAY63-2521);Sildenafil;Tadalafil
46 Crossover Study From Macitentan or Bosentan Over to Ambrisentan Recruiting NCT02885012 Phase 4 Ambrisentan
47 A Study to Investigate the Efficacy of PADN to Improved Functional Capacity and Hemodynamics in Patients With PAH Recruiting NCT02284737 Phase 4 Sildenafil
48 Effects of Oral Sildenafil on Mortality in Adults With PAH Recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate
49 A Long-term Extension Study of Riociguat in Patients With Symptomatic Pulmonary Arterial Hypertension. Recruiting NCT02759419 Phase 4 Adempas (Riociguat, BAY63-2521)
50 Spironolactone Therapy in Chronic Stable Right HF Trial Recruiting NCT03344159 Phase 4 Spironolactone;Placebo

Search NIH Clinical Center for Heritable Pulmonary Arterial Hypertension

Genetic Tests for Heritable Pulmonary Arterial Hypertension

Anatomical Context for Heritable Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Heritable Pulmonary Arterial Hypertension:

41
Heart, Lung, Testes, Endothelial, Liver, Bone, Skin

Publications for Heritable Pulmonary Arterial Hypertension

Articles related to Heritable Pulmonary Arterial Hypertension:

(show all 39)
# Title Authors Year
1
Hypoxemia in patients with idiopathic or heritable pulmonary arterial hypertension. ( 29377954 )
2018
2
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. ( 29650961 )
2018
3
Pulmonary Arterial Capacitance Index Is a Strong Predictor for Adverse Outcome in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 27810156 )
2017
4
Tadalafil in idiopathic or heritable pulmonary arterial hypertension (PAH) compared to PAH associated with connective tissue disease. ( 28279499 )
2017
5
First identification of KrA1ppel-like factor 2 mutation in heritable pulmonary arterial hypertension. ( 28188237 )
2017
6
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
7
Hypermethylation of BMPR2 Promoter Occurs in Patients with Heritable Pulmonary Arterial Hypertension and Inhibits BMPR2 Expression. ( 28170297 )
2017
8
Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension. ( 28267959 )
2017
9
Bilaterally dilated episcleral vessels in patients with heritable pulmonary arterial hypertension. ( 29264093 )
2017
10
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
11
Clinical Impact of Main Pulmonary Artery Dilatation on Outcome in Pediatric Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 28904266 )
2017
12
From bone morphogenic protein receptor II mutations to heritable pulmonary arterial hypertension-the long and winding road. ( 27646063 )
2016
13
Rapid and high-dose titration of epoprostenol improves pulmonary hemodynamics and clinical outcomes in patients with idiopathic and heritable pulmonary arterial hypertension. ( 27005767 )
2016
14
Elevated levels of plasma transforming growth factor-I^1 in idiopathic and heritable pulmonary arterial hypertension. ( 27500766 )
2016
15
Serotonin 2B Receptor Antagonism Prevents Heritable Pulmonary Arterial Hypertension. ( 26863209 )
2016
16
Pregnancy as a possible trigger for heritable pulmonary arterial hypertension. ( 27683615 )
2016
17
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. ( 25612240 )
2015
18
MULTIFOCAL CENTRAL SEROUS CHORIORETINOPATHY WITH PHOTORECEPTOR-RETINAL PIGMENT EPITHELIUM DIASTASIS IN HERITABLE PULMONARY ARTERIAL HYPERTENSION. ( 25383848 )
2014
19
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
20
Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia. ( 24948783 )
2014
21
Long-term patient survival with idiopathic/heritable pulmonary arterial hypertension treated at a single center in Japan. ( 24530872 )
2014
22
Spleen size in idiopathic and heritable pulmonary arterial hypertension. ( 22869505 )
2013
23
Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension. ( 24224048 )
2013
24
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 23579436 )
2013
25
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 25356964 )
2013
26
Evidence for Right Ventricular Lipotoxicity in Heritable Pulmonary Arterial Hypertension. ( 24274756 )
2013
27
Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance. ( 22923426 )
2012
28
Heritable pulmonary arterial hypertension with elevated pulmonary wedge pressure. ( 22927477 )
2012
29
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. ( 21737554 )
2012
30
Impaired natural killer cell phenotype and function in idiopathic and heritable pulmonary arterial hypertension. ( 22832786 )
2012
31
Cardiopulmonary exercise testing reveals onset of disease and response to treatment in a case of heritable pulmonary arterial hypertension. ( 23130108 )
2012
32
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. ( 22923661 )
2012
33
Prevalence and prognostic value of left ventricular diastolic dysfunction in idiopathic and heritable pulmonary arterial hypertension. ( 22207680 )
2012
34
Unexplained iron deficiency in idiopathic and heritable pulmonary arterial hypertension. ( 21297151 )
2011
35
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. ( 21920918 )
2011
36
Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension. ( 21030519 )
2010
37
BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension. ( 20562228 )
2010
38
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. ( 19785764 )
2009
39
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

GO Terms for Heritable Pulmonary Arterial Hypertension

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.92 ACVRL1 BMPR2 ENG TGFB1

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.89 ACVRL1 BMPR2 EIF2AK4 SMAD9 TGFB1
2 response to drug GO:0042493 9.85 ENG KCNK3 TGFB1
3 negative regulation of gene expression GO:0010629 9.83 ACVRL1 ENG TGFB1
4 response to hypoxia GO:0001666 9.8 ACVRL1 CAV1 TGFB1
5 negative regulation of cell growth GO:0030308 9.77 ACVRL1 BMPR2 TGFB1
6 angiogenesis GO:0001525 9.76 ACVRL1 CAV1 ENG TBX4
7 cellular response to organic cyclic compound GO:0071407 9.7 KLF2 SMAD9 TGFB1
8 response to progesterone GO:0032570 9.67 CAV1 TGFB1
9 ureteric bud development GO:0001657 9.67 SMAD9 TGFB1
10 negative regulation of blood vessel endothelial cell migration GO:0043537 9.66 ACVRL1 TGFB1
11 negative regulation of endothelial cell proliferation GO:0001937 9.66 ACVRL1 CAV1
12 positive regulation of bone mineralization GO:0030501 9.65 BMPR2 TGFB1
13 mammary gland development GO:0030879 9.65 CAV1 TGFB1
14 vasculogenesis GO:0001570 9.65 CAV1 ENG TGFB1
15 blood vessel remodeling GO:0001974 9.64 ACVRL1 BMPR2
16 outflow tract septum morphogenesis GO:0003148 9.64 BMPR2 ENG
17 positive regulation of collagen biosynthetic process GO:0032967 9.63 ENG TGFB1
18 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.62 ENG TGFB1
19 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.61 ACVRL1 BMPR2
20 endocardial cushion morphogenesis GO:0003203 9.61 ACVRL1 ENG
21 cellular response to transforming growth factor beta stimulus GO:0071560 9.61 ACVRL1 CAV1 TGFB1
22 activin receptor signaling pathway GO:0032924 9.6 ACVRL1 BMPR2
23 lymphangiogenesis GO:0001946 9.58 ACVRL1 BMPR2
24 negative regulation of DNA biosynthetic process GO:2000279 9.58 ACVRL1 BMPR2
25 artery development GO:0060840 9.57 ACVRL1 BMPR2
26 response to laminar fluid shear stress GO:0034616 9.56 KLF2 TGFB1
27 dorsal aorta morphogenesis GO:0035912 9.55 ACVRL1 ENG
28 retina vasculature development in camera-type eye GO:0061298 9.54 ACVRL1 BMPR2
29 lymphatic endothelial cell differentiation GO:0060836 9.51 ACVRL1 BMPR2
30 cellular response to BMP stimulus GO:0071773 9.5 ACVRL1 BMPR2 SMAD9
31 transforming growth factor beta receptor signaling pathway GO:0007179 9.46 ACVRL1 BMPR2 SMAD9 TGFB1
32 positive regulation of BMP signaling pathway GO:0030513 9.43 ACVRL1 BMPR2 ENG
33 venous blood vessel development GO:0060841 9.4 ACVRL1 BMPR2
34 endocardial cushion to mesenchymal transition GO:0090500 9.37 ACVRL1 ENG
35 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.26 ACVRL1 BMPR2 ENG TGFB1
36 BMP signaling pathway GO:0030509 9.02 ACVRL1 BMPR2 ENG SMAD9 TGFB1
37 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 ACVRL1 BMPR2 ENG KLF2 TGFB1

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.43 ACVRL1 ENG
2 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.4 ACVRL1 BMPR2
3 activin binding GO:0048185 9.37 ACVRL1 ENG
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 ACVRL1 BMPR2
5 type I transforming growth factor beta receptor binding GO:0034713 9.26 ENG TGFB1
6 BMP binding GO:0036122 9.16 BMPR2 ENG
7 type II transforming growth factor beta receptor binding GO:0005114 8.96 ENG TGFB1
8 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
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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