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FPAH
MCID: HRT015
MIFTS: 44

Heritable Pulmonary Arterial Hypertension (FPAH)

Categories: Genetic diseases, Rare diseases, Respiratory diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Heritable Pulmonary Arterial Hypertension

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MalaCards integrated aliases for Heritable Pulmonary Arterial Hypertension:

Name: Heritable Pulmonary Arterial Hypertension 24 58
Hereditary Pulmonary Arterial Hypertension 58
Familial Pulmonary Arterial Hypertension 58
Familial Primary Pulmonary Hypertension 71
Fpah 58
Hpah 58

Characteristics:

Orphanet epidemiological data:

58
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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare respiratory diseases


External Ids:

ICD10 via Orphanet 33 I27.0
UMLS via Orphanet 72 C0340543 C1701939
Orphanet 58 ORPHA275777
UMLS 71 C0340543
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Summaries for Heritable Pulmonary Arterial Hypertension

About this section
MalaCards based summary : Heritable Pulmonary Arterial Hypertension, also known as hereditary pulmonary arterial hypertension, is related to pulmonary hypertension, primary, 1 and pulmonary venoocclusive disease 1, autosomal dominant. An important gene associated with Heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are nNOS Signaling in Skeletal Muscle and Human Embryonic Stem Cell Pluripotency. The drugs Iron and Ambrisentan have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and endothelial, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

GeneReviews: NBK1485
Sources

Related Diseases for Heritable Pulmonary Arterial Hypertension

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Diseases related to Heritable Pulmonary Arterial Hypertension via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 32.6 KCNK3 ENG BMPR2 ACVRL1
2 pulmonary venoocclusive disease 1, autosomal dominant 30.1 EIF2AK4 BMPR2
3 telangiectasis 29.4 GDF2 ENG BMPR2 ACVRL1
4 hereditary hemorrhagic telangiectasia 28.8 TGFB1 GDF2 ENG BMPR2 ACVRL1
5 pulmonary hypertension 27.6 TBX4 SMAD9 KCNK3 ENG EIF2AK4 CAV1
6 pulmonary venoocclusive disease 27.5 TBX4 SMAD9 KCNK3 GDF2 EIF2AK4 CAV1
7 idiopathic/heritable pulmonary arterial hypertension 12.8
8 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.7
9 syncope 10.2
10 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.1
11 pulmonary hypertension, primary, 2 10.1
12 hepatic veno-occlusive disease 10.1
13 chronic thromboembolic pulmonary hypertension 10.1
14 juvenile polyposis syndrome 10.1 SMAD9 BMPR2 ACVRL1
15 pulmonary arteriovenous malformation 10.0 ENG ACVRL1
16 eisenmenger syndrome 10.0 TGFB1 BMPR2
17 pulmonary venoocclusive disease 2, autosomal recessive 10.0
18 pulmonary hypertension, primary, 3 10.0
19 pulmonary hypertension, primary, 4 10.0
20 iron metabolism disease 10.0
21 connective tissue disease 10.0
22 b-cell lymphoma 10.0
23 lung disease 10.0
24 pulmonary embolism 10.0
25 aneurysm of sinus of valsalva 10.0
26 central serous chorioretinopathy 10.0
27 splenomegaly 10.0
28 pulmonary arterial hypertension associated with connective tissue disease 10.0
29 brachydactyly, type a2 10.0 GDF2 BMPR2 BMPR1B
30 weber syndrome 10.0 ENG ACVRL1
31 arteriovenous malformation 9.9 ENG BMPR2 ACVRL1
32 familial vesicoureteral reflux 9.9 TGFB1 SOX17
33 chronic pulmonary heart disease 9.9 SMAD9 BMPR2 BMPR1B ACVRL1
34 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 9.9 ENG ACVRL1
35 paragangliomas 3 9.9
36 neutropenia, severe congenital, 4, autosomal recessive 9.9
37 autosomal recessive disease 9.9
38 inguinal hernia 9.9
39 hemopericardium 9.9
40 pericardial effusion 9.9
41 neutropenia 9.9
42 heart septal defect 9.9
43 atrial heart septal defect 9.9
44 interstitial lung disease 9.9
45 tricuspid valve insufficiency 9.9
46 macular retinal edema 9.9
47 lymphopenia 9.9
48 g6pc3 deficiency 9.9
49 pectus carinatum 9.9
50 angiodysplasia 9.8 ENG ACVRL1

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



Diseases related to Heritable Pulmonary Arterial Hypertension
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Symptoms & Phenotypes for Heritable Pulmonary Arterial Hypertension

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.32 ACVRL1 BMPR1B BMPR2
2 Decreased substrate adherent cell growth GR00193-A-4 9.32 ACVRL1 BMPR1B EIF2AK4
3 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 ACVRL1 BMPR1B EIF2AK4

MGI Mouse Phenotypes related to Heritable Pulmonary Arterial Hypertension:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ACVRL1 AQP1 BMPR2 CAV1 ENG GDF2
2 growth/size/body region MP:0005378 10.27 ACVRL1 AQP1 BMPR1B BMPR2 CAV1 EIF2AK4
3 behavior/neurological MP:0005386 10.2 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
4 homeostasis/metabolism MP:0005376 10.2 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
5 mortality/aging MP:0010768 10.18 ACVRL1 AQP1 BMPR1B BMPR2 CAV1 EIF2AK4
6 embryo MP:0005380 10.16 ACVRL1 BMPR1B BMPR2 ENG KLF2 SMAD9
7 hematopoietic system MP:0005397 10.13 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
8 nervous system MP:0003631 10.1 ACVRL1 AQP1 BMPR1B BMPR2 CAV1 EIF2AK4
9 muscle MP:0005369 10.02 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KLF2
10 craniofacial MP:0005382 10 ACVRL1 BMPR1B ENG KLF2 SMAD9 TGFB1
11 liver/biliary system MP:0005370 9.91 ACVRL1 CAV1 EIF2AK4 KLF2 SOX17 TGFB1
12 normal MP:0002873 9.91 ACVRL1 BMPR1B BMPR2 ENG KCNK3 KLF2
13 reproductive system MP:0005389 9.76 AQP1 BMPR1B CAV1 EIF2AK4 GDF2 SMAD9
14 respiratory system MP:0005388 9.61 ACVRL1 AQP1 BMPR2 CAV1 ENG KCNK3
15 skeleton MP:0005390 9.28 AQP1 BMPR1B BMPR2 CAV1 GDF2 KLF2
Sources

Drugs & Therapeutics for Heritable Pulmonary Arterial Hypertension

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

(show top 50) (show all 123)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
2
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
3
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
4
Epoprostenol Approved Phase 4 35121-78-9, 61849-14-7 5282411 5280427
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Macitentan Approved Phase 4 441798-33-0
7
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
8
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
10 Tezosentan Investigational Phase 4 180384-57-0
11 Vasodilator Agents Phase 4
12 Phosphodiesterase 5 Inhibitors Phase 4
13 Sildenafil Citrate Phase 4 171599-83-0
14 Citrate Phase 4
15 Phosphodiesterase Inhibitors Phase 4
16 Chelating Agents Phase 4
17 Anticoagulants Phase 4
18 Endothelin A Receptor Antagonists Phase 4
19 Hormone Antagonists Phase 4
20 Hormones Phase 4
21 Liver Extracts Phase 4
22 diuretics Phase 4
23 Diuretics, Potassium Sparing Phase 4
24 Mineralocorticoids Phase 4
25 Natriuretic Peptide, Brain Phase 4
26 Mineralocorticoid Receptor Antagonists Phase 4
27
Udenafil Approved, Investigational Phase 2, Phase 3 268203-93-6 6918523
28
Ranolazine Approved, Investigational Phase 3 142387-99-3, 95635-55-5 56959
29
Iloprost Approved, Investigational Phase 3 78919-13-8 6443959
30
Tyrosine Approved, Investigational, Nutraceutical Phase 2, Phase 3 60-18-4 6057
31 Sodium Channel Blockers Phase 3
32 Protein Kinase Inhibitors Phase 3
33 Imatinib Mesylate Phase 3 220127-57-1 123596
34
Morphine Approved, Investigational Phase 2 57-27-2 5288826
35 Orange Approved Phase 2
36
Bisoprolol Approved Phase 1, Phase 2 66722-44-9 2405
37
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
38
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
39
Fluoxetine Approved, Vet_approved Phase 2 54910-89-3 3386
40
Clopidogrel Approved Phase 2 113665-84-2, 120202-66-6 60606
41
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
42
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
43
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
44
Tamoxifen Approved Phase 2 10540-29-1 2733526
45
Olaparib Approved Phase 1, Phase 2 763113-22-0 23725625
46
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
47
Selexipag Approved Phase 2 475086-01-2
48
Ubenimex Investigational Phase 2 58970-76-6
49 Cicletanine Investigational Phase 2 89943-82-8
50 Narcotics Phase 2

Interventional clinical trials:

(show top 50) (show all 304)
# Name Status NCT ID Phase Drugs
1 Hemodynamic Evaluation of Patients With Pulmonary Arterial Hypertension. Response to Sildenafil Treatment Unknown status NCT00483626 Phase 4 oral sildenafil
2 Intravenous Iron Treatment In Iron Deficient Patients With Idiopathic Pulmonary Arterial Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
3 Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
4 Raising the Bars in the Treatment of Pulmonary Arterial Hypertension: Goal Oriented Strategy to Preserve Ejection Fraction Trial Unknown status NCT03236818 Phase 4 ERA and PDE-5I (Sildenafil, Tadalafil, Bosentan, Macitentan)
5 An Open-label Extension of Study AC-066A401 Investigating the Safety and Tolerability of ACT-385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
6 A Multi-center, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effects of Tracleer (Bosentan) on Oxygen Saturation and Cardiac Hemodynamics in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
7 TRUST-2: An Open-label Continuation Trial of the Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
8 A Multinational, Multicentre, Randomized, Double-blind Study To Assess The Efficacy And Safety Of Oral Sildenafil 20mg Tid Or Placebo When Added To Bosentan In The Treatment Of Subjects, Aged 18 Years And Above, With Pulmonary Arterial Hypertension (Pah) Completed NCT00323297 Phase 4 Bosentan;Bosentan;Sildenafil Citrate
9 A Phase IV, Open-label, Randomized, Multicenter Study of the Safety, Tolerability,and Pharmacokinetics of ACT- 385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
10 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
11 An Open Label, Multi-center Study Evaluating the Safety of Long-term Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis® (Iloprost) in Subjects With Pulmonary Arterial Hypertension. Completed NCT00741819 Phase 4 Inhaled treprostinil
12 A Prospective, Multicenter, Single-arm, Open-label, Phase 4 Study to Evaluate the Effects of Macitentan on Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Assessed by Cardiac Magnetic Resonance Imaging Completed NCT02310672 Phase 4 Macitentan
13 An Open-Label Uncontrolled Study of the Safety and Efficacy of Ambrisentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Completed NCT01338636 Phase 4 Ambrisentan
14 COMPASS 3: An Open-label, Multi-Center Study Employing a Targeted 6-Minute Walk Test (6-MWT) Distance Threshold Approach to Guide Bosentan-Based Therapy and to Assess the Utility of Magnetic Resonance Imaging (MRI) on Cardiac Remodeling Completed NCT00433329 Phase 4 Bosentan;Sildenafil
15 Effects of Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Morbidity and Mortality in Symptomatic Patients With Pulmonary Arterial Hypertension - A Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel Group, Prospective, Event Driven Phase IV Study Completed NCT00303459 Phase 4 bosentan;placebo
16 A Phase 3, Multi-center, Open-label Study To Investigate Safety, Efficacy, And Tolerability Of Sildenafil Citrate In Pediatric Patients With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
17 A Multi-center, Double-blind, Placebo-controlled Phase 4 Study in Patients With Pulmonary Arterial Hypertension to Assess the Effect of Selexipag on Daily Life Physical Activity and Patient's Self-reported Symptoms and Their Impacts Completed NCT03078907 Phase 4 Selexipag;Placebo
18 A Multi-Center, Open-Label Extension Study to Protocol AC-052-405 to Evaluate the Safety and Efficacy of Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
19 A Prospective, Randomized, International, Multicenter, Double-arm, Controlled, Open-label Study of Riociguat in Patients With Pulmonary Arterial Hypertension (PAH) Who Are on a Stable Dose of Phosphodiesterase-5 Inhibitors (PDE-5i) With or Without Endothelin Receptor Antagonist (ERA), But Not at Treatment Goal Completed NCT02891850 Phase 4 Adempas (Riociguat, BAY63-2521);Sildenafil;Tadalafil
20 A 16 Week, Open Label, Multi-centre, Study to Evaluate the Safety, Tolerability and Pharmacodynamic Effects of a Rapid Dose Titration Regimen of Subcutaneous Remodulin® Therapy in Subjects With Pulmonary Arterial Hypertension (PAH) Completed NCT02847260 Phase 4 Remodulin
21 An Open-label, Multicenter Study of Ambrisentan and a Phosphodiesterase Type-5 Inhibitor Combination Therapy in Subjects With Pulmonary Arterial Hypertension Who Have Demonstrated a Sub-Optimal Response to a Phosphodiesterase Type-5 Inhibitor Completed NCT00617305 Phase 4 Ambrisentan;Placebo;Sildenafil;Tadalafil
22 A Multicenter, Randomized, Parallel Placebo-Controlled Study of the Safety and Efficacy of Subcutaneous Remodulin® Therapy After Transition From Flolan® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
23 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
24 A MULTINATIONAL, MULTICENTER STUDY TO ASSESS THE EFFECTS OF ORAL SILDENAFIL ON MORTALITY IN ADULTS WITH PULMONARY ARTERIAL HYPERTENSION (PAH) Recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate
25 EXPEDITE: A 16-Week, Multicenter, Open-label Study of Remodulin Induction Followed by Orenitram Optimization in Subjects With Pulmonary Arterial Hypertension Recruiting NCT03497689 Phase 4 Intravenous/Subcutaneous Treprostinil; Oral Treprostinil
26 A Prospective, Multicenter, Single-Arm, Open-Label, Phase 4 Study of the Effects of Selexipag on Right Ventricular Remodeling in Pulmonary Arterial Hypertension Assessed by Cardiac Magnetic Resonance Imaging Not yet recruiting NCT04435782 Phase 4 JNJ-67896049
27 Spironolactone Therapy in Chronic Stable Right HF Trial Suspended NCT03344159 Phase 4 Spironolactone;Placebo
28 Combination Therapy of Bosentan and Aerosolized Iloprost in Idiopathic Pulmonary Arterial Hypertension Terminated NCT00120380 Phase 4 Aerosolized iloprost;Placebo
29 A Multinational, Multicentre, Randomized, Parallel Group, Double-Blind Study To Assess The Efficacy and Safety Of 1 mg, 5 mg and 20 mg TID of Oral Sildenafil in the Treatment of Subjects Aged 18 Years and Over With Pulmonary Arterial Hypertension (PAH) Terminated NCT00430716 Phase 4 Sildenafil citrate;Sildenafil citrate;Sildenafil citrate;Sildenafil citrate
30 Prospective, Multicenter, Open-label Study Evaluating the Effects of First-line Oral Combination Therapy of Macitentan and Tadalafil in Patients With Newly Diagnosed Pulmonary Arterial Hypertension (OPTIMA). Terminated NCT02968901 Phase 4 macitentan;tadalafil
31 Treprostinil for Untreated Symptomatic PAH Trial: A 12-Week Multicenter Randomized Double-Blind Placebo-Controlled Trial of the Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension Terminated NCT00494533 Phase 4 Remodulin (treprostinil sodium)
32 A Safety and Clinical Efficacy Study Measuring Echocardiographic Composite Comparing Ambrisentan (Letairis®) After a Switch From Bosentan (Tracleer®) or Macintentan (Opsumit®) in Treatment of Pulmonary Arterial Hypertension (PAH) Terminated NCT02885012 Phase 4 Ambrisentan
33 The Combination Ambrisentan Plus Spironolactone in Pulmonary Arterial Hypertension Study (The CAPS-PAH Study) Terminated NCT02253394 Phase 4 Ambrisentan plus Spironolactone;Ambrisentan plus Placebo
34 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) Using the Crono Five Ambulatory Infusion Pump in Patients With Stable Pulmonary Arterial Hypertension (PAH): Safety, Efficacy and Treatment Satisfaction Terminated NCT00439946 Phase 4 treprostinil
35 Randomized Placebo Controlled Trial of Treprostinil Infusion Combined With Oral Tadalafil or Placebo in Pulmonary Arterial Hypertension Terminated NCT01302444 Phase 4 Tadalafil;Placebo
36 Treatment of Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Hypertension With Bosentan: A Single Center Pilot Study Withdrawn NCT00625469 Phase 4 bosentan
37 Combined Use of Angiography, Optical Coherence Tomography and Intravascular Ultrasound in Evaluation of Pulmonary Vascular Structure and Function in Patients With Pulmonary Arterial Hypertension Treated With Oral Bosentan Withdrawn NCT01508780 Phase 4
38 A 16-Week, Open-Label, Multi-Center, Parallel, Randomized Controlled Study to Compare the Safety, Tolerability, Pharmacokinetics and Efficacy of Slow and Rapid Dose Titration Regimens of Subcutaneous Remodulin Therapy in Subjects With Pulmonary Arterial Hypertension Withdrawn NCT02893995 Phase 4 Slow Dose Titration Group of Subcutaneous Treprostinil;Rapid Dose Titration Group of Subcutaneous Treprostinil
39 An Open-Label Extension Trial to Evaluate the Safety of Continued Therapy With Subcutaneous Remodulin® in Subjects With Pulmonary Arterial Hypertension Who Completed Study CVT-CV-003 Withdrawn NCT02882126 Phase 4 Subcutaneous Treprostinil
40 Phase â…¢ Study of the Initial Combination of Bosentan With Iloprost in the Treatment of Pulmonary Arterial Hypertension Patients Unknown status NCT01712997 Phase 3 Iloprost;Bosentan
41 A Multicenter, Double-blind, Randomized, Placebo-controlled, Crossover Study to Assess the Effects of a Single Dose of Iloprost Power 15 on Exercise Capacity in Patients With Symptomatic Pulmonary Arterial Hypertension Completed NCT00709956 Phase 3 iloprost (5 µg);placebo
42 An Open Label, Multicenter Study to Assess the Pharmacokinetics, Tolerability, and Safety of a Pediatric Formulation of Bosentan in Children With Idiopathic or Familial Pulmonary Arterial Hypertension Completed NCT00319267 Phase 3 Bosentan
43 An Open Label, Long-term, Safety, and Tolerability Extension Study Using the Pediatric Formulation of Bosentan in the Treatment of Children With Idiopathic or Familial Pulmonary Arterial Hypertension Who Completed FUTURE 1 Completed NCT00319020 Phase 3 Bosentan
44 A Multicenter, Double-blind, Randomized Study Comparing the Safety and Tolerability of Iloprost Inhalation Solution Delivered by I-neb Utilizing Power Disc-15 and Power Disc-6 in Patients With Symptomatic Pulmonary Arterial Hypertension Completed NCT00709098 Phase 3 iloprost;iloprost
45 Ambrisentan in PAH - A Phase III, Randomized, Double-Blind, Placebo-Controlled, Multicenter, Efficacy Study of Ambrisentan in Subjects With Pulmonary Arterial Hypertension. Completed NCT00423202 Phase 3 ambrisentan
46 A Randomised, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of the Six Months Treatment With the Tyrosine Kinase Inhibitor STI571 for the Treatment of Pulmonary Arterial Hypertension (PAH) Completed NCT00477269 Phase 2, Phase 3 Imatinib mesylate;Placebo
47 A Multicenter, Double-blind, Placebo-controlled Phase 3 Study Assessing the Safety and Efficacy of Selexipag on Morbidity and Mortality in Patients With Pulmonary Arterial Hypertension Completed NCT01106014 Phase 3 Selexipag;Placebo
48 A Non-randomized, Multiple Dose, Three Treatment Period, Open-label, Single Sequence, Single Group Study to Evaluate the Pharmacokinetic Effect of Two Doses of QTI571 (Imatinib) on the Co-administered Drugs Sildenafil and Bosentan in Pulmonary Arterial Hypertension (PAH) Patients Completed NCT01392469 Phase 3 Imatinib
49 An Open-label Extension of Study AC-066A301 Investigating the Safety and Tolerability of ACT-385781A in Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01470144 Phase 3 Epoprostenol
50 Ambrisentan in PAH - A Phase III, Randomized, Double-Blind, Placebo-Controlled, Multicenter, Efficacy Study of Ambrisentan in Subjects With Pulmonary Arterial Hypertension Completed NCT00423748 Phase 3 ambrisentan

Search NIH Clinical Center for Heritable Pulmonary Arterial Hypertension

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Genetic Tests for Heritable Pulmonary Arterial Hypertension

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Anatomical Context for Heritable Pulmonary Arterial Hypertension

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MalaCards organs/tissues related to Heritable Pulmonary Arterial Hypertension:

40
Heart, Testes, Endothelial, Lung, Bone, Smooth Muscle, Liver
Sources

Publications for Heritable Pulmonary Arterial Hypertension

About this section

Articles related to Heritable Pulmonary Arterial Hypertension:

(show top 50) (show all 295)
# Title Authors PMID Year
1
Sex affects bone morphogenetic protein type II receptor signaling in pulmonary artery smooth muscle cells. 61 24
25608111 2015
2
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. 61 24
22923661 2012
3
Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension. 61 24
22374147 2012
4
Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 61 24
20056902 2010
5
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. 61 24
19785764 2009
6
Genetics and genomics of pulmonary arterial hypertension. 61 24
19555857 2009
7
Perspectives on oral pulmonary hypertension therapies recently approved by the U.S. Food and Drug Administration. 24
25590376 2015
8
Pharmacologic therapy for pulmonary arterial hypertension in adults: CHEST guideline and expert panel report. 24
24937180 2014
9
The right ventricle explains sex differences in survival in idiopathic pulmonary arterial hypertension. 24
24306900 2014
10
EIF2AK4 mutations in pulmonary capillary hemangiomatosis. 24
24135949 2014
11
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. 24
24292273 2014
12
Updated clinical classification of pulmonary hypertension. 24
24355639 2013
13
Definitions and diagnosis of pulmonary hypertension. 24
24355641 2013
14
Treatment goals of pulmonary hypertension. 24
24355644 2013
15
Chronic thromboembolic pulmonary hypertension. 24
24355646 2013
16
New trial designs and potential therapies for pulmonary artery hypertension. 24
24355645 2013
17
Genetics and genomics of pulmonary arterial hypertension. 24
24355637 2013
18
A novel channelopathy in pulmonary arterial hypertension. 24
23883380 2013
19
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 24
22474227 2012
20
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. 24
21158752 2011
21
A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian. 24
20496075 2010
22
Systematic review of trials using vasodilators in pulmonary arterial hypertension: why a new approach is needed. 24
20152223 2010
23
Pulmonary arterial hypertension: baseline characteristics from the REVEAL Registry. 24
19837821 2010
24
Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females. 24
19357154 2009
25
Estrogen exposure, obesity and thyroid disease in women with severe pulmonary hypertension. 24
19748850 2009
26
Future perspectives for the treatment of pulmonary arterial hypertension. 24
19555854 2009
27
Updated clinical classification of pulmonary hypertension. 24
19555858 2009
28
Diagnosis and assessment of pulmonary arterial hypertension. 24
19555859 2009
29
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 24
19211612 2009
30
Mice expressing BMPR2R899X transgene in smooth muscle develop pulmonary vascular lesions. 24
18723761 2008
31
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 24
18792970 2008
32
Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. 24
18503968 2008
33
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. 24
18356561 2008
34
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. 24
18211975 2008
35
Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases. 24
17959632 2008
36
Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. 24
18237401 2008
37
High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. 24
16728714 2006
38
Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. 24
16717148 2006
39
Update in pulmonary hypertension 2005. 24
16493163 2006
40
BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. 24
15358693 2004
41
Clinical classification of pulmonary hypertension. 24
15194173 2004
42
Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension. 24
14583445 2003
43
Direct signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1. 24
12963706 2003
44
Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation. 24
14516151 2003
45
Primary pulmonary hypertension. 24
12737878 2003
46
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. 24
12446270 2003
47
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 24
12358323 2002
48
Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension. 24
12221115 2002
49
Genetics of primary pulmonary hypertension. 24
11590842 2001
50
Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. 24
11484688 2001
Sources

Variations for Heritable Pulmonary Arterial Hypertension

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Expression for Heritable Pulmonary Arterial Hypertension

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

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
nNOS Signaling in Skeletal Muscle 63
Show member pathways
 12.41 SMAD9 BMPR2 BMPR1B ACVRL1
2
Human Embryonic Stem Cell Pluripotency 63
Show member pathways
 12.2 TGFB1 SMAD9 BMPR2 BMPR1B
3
Wnt / Hedgehog / Notch 4
11.93 TGFB1 SMAD9 ENG BMPR2
4
Hippo signaling pathway 36
11.91 TGFB1 BMPR2 BMPR1B
5
Signaling pathways regulating pluripotency of stem cells 36
11.86 SMAD9 BMPR2 BMPR1B
6
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 64
11.79 TGFB1 SOX17 KLF2
7
Fluid shear stress and atherosclerosis 36
11.77 KLF2 CAV1 BMPR2 BMPR1B
8
Signaling by BMP 65
Show member pathways
 11.47 SMAD9 BMPR2 BMPR1B
9
TGF-beta Signaling Pathways 64
11.44 TGFB1 SMAD9 ENG ACVRL1
10
TGF-beta Receptor Signaling (WikiPathways) 1
11.34 TGFB1 SMAD9 ENG
11
TGF-beta signaling pathway (KEGG) 36
11.23 TGFB1 SMAD9 BMPR2 BMPR1B
12
Cardiomyocyte Differentiation through BMP Receptors 63
10.78 SMAD9 BMPR2 BMPR1B
13
ALK1 signaling events 1
Show member pathways
 10.53 TGFB1 SMAD9 GDF2 CAV1 BMPR2 ACVRL1
14
ALK2 signaling events 1
10.52 SMAD9 BMPR2
Sources

GO Terms for Heritable Pulmonary Arterial Hypertension

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.63 KCNK3 CAV1 BMPR2 BMPR1B AQP1 ACVRL1
2 neuronal cell body GO:0043025 9.56 TGFB1 BMPR2 BMPR1B ACVRL1
3 cell GO:0005623 9.43 TGFB1 KCNK3 GDF2 CAV1 ATP13A3 AQP1
4 receptor complex GO:0043235 8.92 ENG BMPR2 BMPR1B ACVRL1

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

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.07 TGFB1 SOX17 KLF2 GDF2 ACVRL1
2 protein phosphorylation GO:0006468 10.06 TGFB1 EIF2AK4 BMPR2 BMPR1B ACVRL1
3 positive regulation of gene expression GO:0010628 10.03 TGFB1 SOX17 GDF2 ENG CAV1
4 response to drug GO:0042493 9.97 TGFB1 KCNK3 ENG AQP1
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 TGFB1 TBX4 SOX17 KLF2 GDF2 ENG
6 heart development GO:0007507 9.95 TGFB1 SOX17 ENG ACVRL1
7 response to hypoxia GO:0001666 9.88 TGFB1 CAV1 ACVRL1
8 angiogenesis GO:0001525 9.88 TBX4 SOX17 GDF2 ENG CAV1 ACVRL1
9 positive regulation of angiogenesis GO:0045766 9.87 GDF2 ENG AQP1 ACVRL1
10 cellular calcium ion homeostasis GO:0006874 9.85 TGFB1 CAV1 ATP13A3
11 negative regulation of cell growth GO:0030308 9.85 TGFB1 SOX17 GDF2 BMPR2 ACVRL1
12 cellular response to mechanical stimulus GO:0071260 9.83 TGFB1 ENG AQP1
13 positive regulation of endothelial cell proliferation GO:0001938 9.81 GDF2 BMPR2 ACVRL1
14 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 TGFB1 CAV1 ACVRL1
15 cellular response to growth factor stimulus GO:0071363 9.8 TGFB1 BMPR2 BMPR1B ACVRL1
16 SMAD protein signal transduction GO:0060395 9.79 TGFB1 SMAD9 GDF2
17 transforming growth factor beta receptor signaling pathway GO:0007179 9.77 TGFB1 SMAD9 ENG BMPR2 ACVRL1
18 negative regulation of blood vessel endothelial cell migration GO:0043537 9.76 TGFB1 GDF2 ACVRL1
19 negative regulation of endothelial cell proliferation GO:0001937 9.75 GDF2 CAV1 ACVRL1
20 positive regulation of bone mineralization GO:0030501 9.73 TGFB1 BMPR2 BMPR1B
21 positive regulation of BMP signaling pathway GO:0030513 9.73 GDF2 ENG BMPR2 ACVRL1
22 blood vessel morphogenesis GO:0048514 9.71 GDF2 ACVRL1
23 outflow tract septum morphogenesis GO:0003148 9.71 ENG BMPR2
24 activin receptor signaling pathway GO:0032924 9.71 GDF2 BMPR2 ACVRL1
25 limb morphogenesis GO:0035108 9.7 TBX4 BMPR1B
26 positive regulation of collagen biosynthetic process GO:0032967 9.7 TGFB1 ENG
27 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.7 TGFB1 ENG
28 negative regulation of endothelial cell migration GO:0010596 9.7 GDF2 ACVRL1
29 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.7 BMPR2 BMPR1B ACVRL1
30 chondrocyte development GO:0002063 9.69 BMPR2 BMPR1B
31 positive regulation of chondrocyte differentiation GO:0032332 9.69 BMPR1B ACVRL1
32 proteoglycan biosynthetic process GO:0030166 9.69 BMPR2 BMPR1B
33 positive regulation of cartilage development GO:0061036 9.69 GDF2 BMPR2 BMPR1B
34 positive regulation of endothelial cell differentiation GO:0045603 9.68 GDF2 ACVRL1
35 endocardial cushion morphogenesis GO:0003203 9.68 ENG ACVRL1
36 pathway-restricted SMAD protein phosphorylation GO:0060389 9.68 TGFB1 GDF2
37 lymphangiogenesis GO:0001946 9.67 BMPR2 ACVRL1
38 artery development GO:0060840 9.65 BMPR2 ACVRL1
39 retina vasculature development in camera-type eye GO:0061298 9.65 BMPR2 ACVRL1
40 negative regulation of DNA biosynthetic process GO:2000279 9.65 GDF2 BMPR2 ACVRL1
41 vasculogenesis GO:0001570 9.65 TGFB1 SOX17 GDF2 ENG CAV1
42 dorsal aorta morphogenesis GO:0035912 9.64 ENG ACVRL1
43 response to laminar fluid shear stress GO:0034616 9.64 TGFB1 KLF2
44 lymphatic endothelial cell differentiation GO:0060836 9.61 BMPR2 ACVRL1
45 negative regulation of chondrocyte proliferation GO:1902731 9.61 BMPR2 BMPR1B
46 venous blood vessel development GO:0060841 9.6 BMPR2 ACVRL1
47 endochondral bone morphogenesis GO:0060350 9.59 BMPR2 BMPR1B
48 endocardial cushion to mesenchymal transition GO:0090500 9.55 ENG ACVRL1
49 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.55 TGFB1 GDF2 ENG BMPR2 ACVRL1
50 cellular response to BMP stimulus GO:0071773 9.35 SMAD9 GDF2 BMPR2 BMPR1B ACVRL1

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

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.76 EIF2AK4 BMPR2 BMPR1B ACVRL1
2 transforming growth factor beta binding GO:0050431 9.48 ENG ACVRL1
3 activin binding GO:0048185 9.43 ENG ACVRL1
4 BMP binding GO:0036122 9.4 ENG BMPR2
5 type I transforming growth factor beta receptor binding GO:0034713 9.37 TGFB1 ENG
6 type II transforming growth factor beta receptor binding GO:0005114 9.32 TGFB1 ENG
7 BMP receptor activity GO:0098821 9.26 BMPR2 ACVRL1
8 transforming growth factor beta receptor activity, type I GO:0005025 9.16 BMPR1B ACVRL1
9 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.13 BMPR2 BMPR1B ACVRL1
10 transforming growth factor beta-activated receptor activity GO:0005024 8.8 ENG BMPR2 ACVRL1
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Sources for Heritable Pulmonary Arterial Hypertension

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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