FPAH
MCID: HRT015
MIFTS: 46

Heritable Pulmonary Arterial Hypertension (FPAH)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Heritable Pulmonary Arterial Hypertension

MalaCards integrated aliases for Heritable Pulmonary Arterial Hypertension:

Name: Heritable Pulmonary Arterial Hypertension 25 58 29
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;

Classifications:

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

Summaries for Heritable Pulmonary Arterial Hypertension

MalaCards based summary : Heritable Pulmonary Arterial Hypertension, also known as hereditary pulmonary arterial hypertension, is related to idiopathic/heritable pulmonary arterial hypertension and pulmonary hypertension, primary, 1. An important gene associated with Heritable Pulmonary Arterial Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Silver sulfadiazine and Selexipag have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and smooth muscle, and related phenotypes are Decreased viability and Decreased viability

GeneReviews: NBK1485

Related Diseases for Heritable Pulmonary Arterial Hypertension

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 idiopathic/heritable pulmonary arterial hypertension 31.8 SMAD9 KCNK3 ENG CAV1 BMPR2 ACVRL1
2 pulmonary hypertension, primary, 1 31.7 TBX4 KCNK3 ENG EIF2AK4 BMPR2 ACVRL1
3 telangiectasis 30.4 GDF2 ENG BMPR2 ACVRL1
4 arteriovenous malformation 30.3 ENG BMPR2 ACVRL1
5 pulmonary venoocclusive disease 1, autosomal dominant 30.3 EIF2AK4 BMPR2
6 hereditary hemorrhagic telangiectasia 29.6 TGFB1 GDF2 ENG BMPR2 ACVRL1
7 pulmonary venoocclusive disease 28.9 TBX4 SMAD9 KCNK3 GDF2 ENG EIF2AK4
8 pulmonary hypertension 28.4 TGFB1 TBX4 SMAD9 KDR KCNK3 GDF2
9 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.6
10 pulmonary arteriovenous malformation 10.2 ENG ACVRL1
11 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.2
12 hepatic veno-occlusive disease 10.2
13 chronic thromboembolic pulmonary hypertension 10.2
14 syncope 10.2
15 telangiectasia, hereditary hemorrhagic, type 2 10.2 ENG ACVRL1
16 pulmonary valve insufficiency 10.2 KCNK3 BMPR2 ACVRL1
17 lung disease 10.1
18 multiple synostoses syndrome 10.1 TBX4 BMPR2 BMPR1B
19 pulmonary venoocclusive disease 2, autosomal recessive 10.1
20 pulmonary hypertension, primary, 2 10.1
21 iron metabolism disease 10.1
22 connective tissue disease 10.1
23 b-cell lymphoma 10.1
24 pulmonary embolism 10.1
25 aneurysm of sinus of valsalva 10.1
26 central serous chorioretinopathy 10.1
27 splenomegaly 10.1
28 aneurysm 10.1
29 pulmonary arterial hypertension associated with connective tissue disease 10.1
30 weber syndrome 10.1 ENG ACVRL1
31 bone squamous cell carcinoma 10.0 KDR ENG
32 proximal symphalangism 10.0 TBX4 GDF2 BMPR1B
33 refractory cytopenia with multilineage dysplasia 10.0 TET2 ENG
34 chronic pulmonary heart disease 10.0 SMAD9 BMPR2 BMPR1B ACVRL1
35 paragangliomas 3 10.0
36 neutropenia, severe congenital, 4, autosomal recessive 10.0
37 autosomal recessive disease 10.0
38 inguinal hernia 10.0
39 hemopericardium 10.0
40 pericardial effusion 10.0
41 neutropenia 10.0
42 heart septal defect 10.0
43 atrial heart septal defect 10.0
44 interstitial lung disease 10.0
45 tricuspid valve insufficiency 10.0
46 macular retinal edema 10.0
47 lymphopenia 10.0
48 g6pc3 deficiency 10.0
49 pectus carinatum 10.0
50 hypoxia 10.0

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 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.58 BMPR2
2 Decreased viability GR00221-A-1 9.58 ACVRL1 BMPR2 KDR
3 Decreased viability GR00221-A-2 9.58 ACVRL1 KDR
4 Decreased viability GR00221-A-3 9.58 ACVRL1 BMPR1B BMPR2 KDR
5 Decreased viability GR00221-A-4 9.58 ACVRL1 BMPR2 KDR
6 Decreased viability GR00249-S 9.58 BMPR2 KDR
7 Decreased viability GR00301-A 9.58 BMPR1B BMPR2
8 Decreased viability GR00342-S-1 9.58 BMPR1B
9 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.46 ACVRL1 BMPR1B EIF2AK4 KDR
10 Decreased substrate adherent cell growth GR00193-A-1 9.43 ACVRL1 BMPR1B
11 Decreased substrate adherent cell growth GR00193-A-4 9.43 ACVRL1 BMPR1B EIF2AK4 KDR

MGI Mouse Phenotypes related to Heritable Pulmonary Arterial Hypertension:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 ACVRL1 AQP1 BMPR1B BMPR2 CAV1 CD248
2 cardiovascular system MP:0005385 10.4 ACVRL1 AQP1 BMPR2 CAV1 ENG GDF2
3 homeostasis/metabolism MP:0005376 10.34 ACVRL1 AQP1 BMPR2 CAV1 CD248 EIF2AK4
4 hematopoietic system MP:0005397 10.32 ACVRL1 AQP1 BMPR2 CAV1 CD248 EIF2AK4
5 mortality/aging MP:0010768 10.28 ACVRL1 AQP1 BMPR1B BMPR2 CAV1 EIF2AK4
6 immune system MP:0005387 10.26 AQP1 BMPR2 CAV1 CD248 EIF2AK4 GDF2
7 embryo MP:0005380 10.24 ACVRL1 BMPR1B BMPR2 ENG KDR KLF2
8 nervous system MP:0003631 10.18 ACVRL1 AQP1 BMPR1B BMPR2 CAV1 EIF2AK4
9 muscle MP:0005369 10.1 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KDR
10 craniofacial MP:0005382 10.09 ACVRL1 BMPR1B ENG KDR KLF2 SMAD9
11 liver/biliary system MP:0005370 10.06 ACVRL1 CAV1 EIF2AK4 KDR KLF2 SOX17
12 normal MP:0002873 10.03 ACVRL1 BMPR1B BMPR2 CD248 ENG KCNK3
13 no phenotypic analysis MP:0003012 9.87 KCNK3 KDR KLF2 SMAD9 SOX17 TBX4
14 reproductive system MP:0005389 9.81 AQP1 BMPR1B CAV1 CD248 EIF2AK4 GDF2
15 respiratory system MP:0005388 9.65 ACVRL1 AQP1 BMPR2 CAV1 ENG KCNK3
16 skeleton MP:0005390 9.28 BMPR1B BMPR2 CAV1 GDF2 KDR KLF2

Drugs & Therapeutics for Heritable Pulmonary Arterial Hypertension

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

(show top 50) (show all 128)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
2
Selexipag Approved Phase 4 475086-01-2
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
5
Macitentan Approved Phase 4 441798-33-0
6
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
7
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
8
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
9
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
10 Tezosentan Investigational Phase 4 180384-57-0
11 Phosphodiesterase Inhibitors Phase 4
12 Citrate Phase 4
13 Phosphodiesterase 5 Inhibitors Phase 4
14 Vasodilator Agents Phase 4
15 Sildenafil Citrate Phase 4 171599-83-0
16 Endothelin A Receptor Antagonists Phase 4
17 Diuretics, Potassium Sparing Phase 4
18 Hormones Phase 4
19 Anticoagulants Phase 4
20 Chelating Agents Phase 4
21 Hormone Antagonists Phase 4
22 diuretics Phase 4
23 Liver Extracts Phase 4
24 Mineralocorticoid Receptor Antagonists Phase 4
25 Natriuretic Peptide, Brain Phase 4
26 Mineralocorticoids Phase 4
27
Iloprost Approved, Investigational Phase 3 78919-13-8 6443959
28
Ranolazine Approved, Investigational Phase 3 95635-55-5, 142387-99-3 56959
29
Udenafil Approved, Investigational Phase 2, Phase 3 268203-93-6 6918523
30
Riociguat Approved Phase 3 625115-55-1
31
Tyrosine Approved, Investigational, Nutraceutical Phase 2, Phase 3 60-18-4 6057
32 Sodium Channel Blockers Phase 3
33 Protein Kinase Inhibitors Phase 3
34 Imatinib Mesylate Phase 3 220127-57-1 123596
35 Platelet Aggregation Inhibitors Phase 3
36
Bisoprolol Approved Phase 1, Phase 2 66722-44-9 2405
37 Orange Approved Phase 2
38
Morphine Approved, Investigational Phase 2 57-27-2 5288826
39
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
40
Fluoxetine Approved, Vet_approved Phase 2 54910-89-3 3386
41
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
42
Clopidogrel Approved Phase 2 120202-66-6, 113665-84-2 60606
43
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
44
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
45
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
46
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
47
Tamoxifen Approved Phase 2 10540-29-1 2733526
48
Sulfasalazine Approved Phase 1, Phase 2 599-79-1 5353980 5359476
49
Ubenimex Investigational Phase 2 58970-76-6
50 Cicletanine Investigational Phase 2 89943-82-8

Interventional clinical trials:

(show top 50) (show all 314)
# Name Status NCT ID Phase Drugs
1 Intravenous Iron Treatment In Iron Deficient Patients With Idiopathic Pulmonary Arterial Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
2 Hemodynamic Evaluation of Patients With Pulmonary Arterial Hypertension. Response to Sildenafil Treatment Unknown status NCT00483626 Phase 4 oral sildenafil
3 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)
4 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
5 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
6 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®
7 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
8 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
9 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
10 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
11 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
12 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
13 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
14 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®
15 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
16 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®
17 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
18 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
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 Riociguat (Adempas, BAY63-2521);Sildenafil;Tadalafil
20 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
21 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
22 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
23 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
24 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
25 A MULTINATIONAL, MULTICENTER STUDY TO ASSESS THE EFFECTS OF ORAL SILDENAFIL ON MORTALITY IN ADULTS WITH PULMONARY ARTERIAL HYPERTENSION (PAH) Active, not recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate
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 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
29 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
30 Combination Therapy of Bosentan and Aerosolized Iloprost in Idiopathic Pulmonary Arterial Hypertension Terminated NCT00120380 Phase 4 Aerosolized iloprost;Placebo
31 Randomized Placebo Controlled Trial of Treprostinil Infusion Combined With Oral Tadalafil or Placebo in Pulmonary Arterial Hypertension Terminated NCT01302444 Phase 4 Tadalafil;Placebo
32 A MULTINATIONAL, MULTICENTRE, RANDOMIZED, PARALLEL GROUP, DOUBLE-BLIND STUDY TO ASSESS THE EFFICACY AND SAFETY OF 1MG, 5MG 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
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 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
35 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)
36 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
37 Treatment of Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Hypertension With Bosentan: A Single Center Pilot Study Withdrawn NCT00625469 Phase 4 bosentan
38 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
39 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
40 Phase Ⅲ 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 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
42 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
43 An Open-label, Prospective Multicenter Study to Assess the Pharmacokinetics, Tolerability, Safety and Efficacy of the Pediatric Formulation of Bosentan Two Versus Three Times a Day in Children With Pulmonary Arterial Hypertension Completed NCT01223352 Phase 3 bosentan
44 Effects of Ranolazine in Patients With Angina Due to Right Ventricular Ischemia in Pulmonary Arterial Hypertension Completed NCT01174173 Phase 3 Ranolazine
45 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
46 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
47 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
48 An Extension of AC-055-310, a Multi-center, Open-label, Single-arm, Phase 3b Study of Macitentan in Patients With Pulmonary Arterial Hypertension to Psychometrically Validate the French, Italian and Spanish Versions of the PAH-SYMPACT™ Completed NCT02112487 Phase 3 Macitentan
49 A Multicenter, Single-arm, Open-label, Phase 3b Study to Assess the Effects of Switching From Flolan® to EFI/ACT-385781A in Patients With Pulmonary Arterial Hypertension Completed NCT01431716 Phase 3 EFI/ACT-385781A
50 A Randomized, Double-Blind, Placebo Controlled, Dose Ranging, Parallel Group Study of Oral Sildenafil in the Treatment of Children, Aged 1-17 Years, With Pulmonary Arterial Hypertension. Completed NCT00159913 Phase 3 Sildenafil citrate;Sildenafil citrate;Placebo;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:

# Genetic test Affiliating Genes
1 Heritable Pulmonary Arterial Hypertension 29

Anatomical Context for Heritable Pulmonary Arterial Hypertension

MalaCards organs/tissues related to Heritable Pulmonary Arterial Hypertension:

40
Heart, Endothelial, Smooth Muscle, Bone, Brain, Liver, Whole Blood

Publications for Heritable Pulmonary Arterial Hypertension

Articles related to Heritable Pulmonary Arterial Hypertension:

(show top 50) (show all 283)
# Title Authors PMID Year
1
Genetics and genomics of pulmonary arterial hypertension. 61 25
30545973 2019
2
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. 25 61
22923661 2012
3
Missense mutations of the BMPR1B (ALK6) gene in childhood idiopathic pulmonary arterial hypertension. 61 25
22374147 2012
4
Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. 25 61
20056902 2010
5
Pulmonary Arterial Hypertension in Pregnancy. 25
33222807 2021
6
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. 25
33320693 2020
7
Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. 25
32192357 2020
8
TBX4 syndrome: a systemic disease highlighted by pulmonary arterial hypertension in its most severe form. 25
32409426 2020
9
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. 25
31727138 2019
10
Haemodynamic definitions and updated clinical classification of pulmonary hypertension. 25
30545968 2019
11
Sex differences in hemodynamic responses and long-term survival to optimal medical therapy in patients with pulmonary arterial hypertension. 25
29441403 2018
12
Timing, rates and spectra of human germline mutation. 25
26656846 2016
13
2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). 25
26320113 2016
14
Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society. 25
26534956 2015
15
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
16
EIF2AK4 mutations in pulmonary capillary hemangiomatosis. 25
24135949 2014
17
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. 25
24292273 2014
18
Chronic thromboembolic pulmonary hypertension. 25
24355646 2013
19
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 25
23592887 2013
20
A novel channelopathy in pulmonary arterial hypertension. 25
23883380 2013
21
Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. 25
22474227 2012
22
Pulmonary arterial hypertension: baseline characteristics from the REVEAL Registry. 25
19837821 2010
23
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 25
19211612 2009
24
ACCF/AHA 2009 expert consensus document on pulmonary hypertension: a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association: developed in collaboration with the American College of Chest Physicians, American Thoracic Society, Inc., and the Pulmonary Hypertension Association. 25
19332472 2009
25
ACCF/AHA 2009 expert consensus document on pulmonary hypertension a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association developed in collaboration with the American College of Chest Physicians; American Thoracic Society, Inc.; and the Pulmonary Hypertension Association. 25
19389575 2009
26
Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases. 25
17959632 2008
27
High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. 25
16728714 2006
28
BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. 25
15358693 2004
29
Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. 25
10051328 1999
30
Plasma levels of apelin are reduced in patients with liver fibrosis and cirrhosis but are not correlated with circulating levels of bone morphogenetic protein 9 and 10. 61
33171278 2021
31
Targeting transforming growth factor-β receptors in pulmonary hypertension. 61
32817256 2021
32
Altered TGFβ/SMAD Signaling in Human and Rat Models of Pulmonary Hypertension: An Old Target Needs Attention. 61
33419137 2021
33
Heritable pulmonary arterial hypertension complicated by multiple pulmonary arteriovenous malformations. 61
33537202 2021
34
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation. 61
33380512 2020
35
PHorecasting Heritable Pulmonary Arterial Hypertension: Are We Nearly There Yet? 61
32835509 2020
36
Knockdown of bone morphogenetic protein type II receptor leads to decreased aquaporin 1 expression and function in human pulmonary microvascular endothelial cells. 61
32687728 2020
37
Hydrogenated polycyclic aromatic hydrocarbons: isomerism and aromaticity. 61
32975253 2020
38
BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients. 61
33036198 2020
39
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension. 61
33105808 2020
40
Hereditary haemorrhagic telangiectasia with heritable pulmonary arterial hypertension. 61
32457986 2020
41
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension. 61
33007923 2020
42
4PBA Restores Signaling of a Cysteine-substituted Mutant BMPR2 Receptor Found in Patients with Pulmonary Arterial Hypertension. 61
32255665 2020
43
Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome. 61
32352834 2020
44
A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report. 61
32756122 2020
45
A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. 61
32547734 2020
46
Clinical efficacy and safety of switch from bosentan to macitentan in children and young adults with pulmonary arterial hypertension: extended study results. 61
32290885 2020
47
Genetics of pulmonary hypertension and high-altitude pulmonary edema. 61
32324476 2020
48
Input of an Off-Line, Comprehensive, Three-Dimensional Method (CPC×SFC/HRMS) to Quantify Polycyclic Aromatic Hydrocarbons in Vacuum Gas Oils. 61
32275145 2020
49
Tuning of pKa values activates substrates in flavin-dependent aromatic hydroxylases. 61
32014994 2020
50
Tsantan Sumtang attenuated chronic hypoxia-induced right ventricular structure remodeling and fibrosis by equilibrating local ACE-AngII-AT1R/ACE2-Ang1-7-Mas axis in rat. 61
31862407 2020

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:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 TGFB1 SOX17 SMAD9 KDR GDF2 BMPR2
2
Show member pathways
13.09 TGFB1 KDR GDF2 BMPR2 BMPR1B ACVRL1
3
Show member pathways
13.06 TGFB1 KDR GDF2 EIF2AK4 CAV1 AQP1
4
Show member pathways
12.27 TGFB1 SMAD9 BMPR2 BMPR1B
5 11.97 TGFB1 SMAD9 ENG BMPR2
6 11.79 TGFB1 SOX17 KLF2 KDR
7 11.64 TGFB1 KDR ENG
8 11.6 TGFB1 SMAD9 ENG ACVRL1
9 11.53 TGFB1 SMAD9 BMPR2 BMPR1B
10
Show member pathways
11.51 SMAD9 BMPR2 BMPR1B
11 11.5 KLF2 KDR CAV1 BMPR2 BMPR1B
12 11.4 TGFB1 SMAD9 ENG
13 11.33 TGFB1 SOX17 KDR
14 10.67 SMAD9 BMPR2 BMPR1B
15 10.54 SMAD9 BMPR2
16
Show member pathways
10.53 TGFB1 SMAD9 GDF2 CAV1 BMPR2 ACVRL1

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 integral component of plasma membrane GO:0005887 9.5 KDR KCNK3 CAV1 BMPR2 BMPR1B AQP1
2 receptor complex GO:0043235 9.02 KDR 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 10.11 TGFB1 SOX17 KLF2 GDF2 ACVRL1
2 phosphorylation GO:0016310 10.1 KDR EIF2AK4 BMPR2 BMPR1B ACVRL1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 TGFB1 TET2 SOX17 KLF2 GDF2 ENG
4 protein phosphorylation GO:0006468 10.08 TGFB1 KDR EIF2AK4 BMPR2 BMPR1B ACVRL1
5 positive regulation of gene expression GO:0010628 10.06 TGFB1 SOX17 GDF2 ENG CAV1
6 negative regulation of gene expression GO:0010629 9.99 TGFB1 KDR ENG ACVRL1
7 cell migration GO:0016477 9.97 TGFB1 KDR ENG CD248
8 heart development GO:0007507 9.97 TGFB1 SOX17 ENG ACVRL1
9 response to hypoxia GO:0001666 9.93 TGFB1 ENG CAV1 ACVRL1
10 positive regulation of angiogenesis GO:0045766 9.88 KDR GDF2 ENG AQP1 ACVRL1
11 transforming growth factor beta receptor signaling pathway GO:0007179 9.87 TGFB1 SMAD9 ENG ACVRL1
12 angiogenesis GO:0001525 9.87 TBX4 SOX17 KDR GDF2 ENG CAV1
13 cellular calcium ion homeostasis GO:0006874 9.86 TGFB1 CAV1 ATP13A3
14 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.85 TGFB1 ENG CAV1
15 cellular response to mechanical stimulus GO:0071260 9.85 TGFB1 ENG AQP1
16 negative regulation of cell growth GO:0030308 9.85 TGFB1 SOX17 GDF2 BMPR2 ACVRL1
17 positive regulation of endothelial cell proliferation GO:0001938 9.83 KDR GDF2 BMPR2 ACVRL1
18 SMAD protein signal transduction GO:0060395 9.82 TGFB1 SMAD9 GDF2
19 cellular response to transforming growth factor beta stimulus GO:0071560 9.81 TGFB1 CAV1 ACVRL1
20 cellular response to growth factor stimulus GO:0071363 9.81 TGFB1 BMPR2 BMPR1B ACVRL1
21 negative regulation of blood vessel endothelial cell migration GO:0043537 9.79 TGFB1 GDF2 ACVRL1
22 positive regulation of bone mineralization GO:0030501 9.77 TGFB1 BMPR2 BMPR1B
23 branching involved in blood vessel morphogenesis GO:0001569 9.75 KDR GDF2 ENG
24 activin receptor signaling pathway GO:0032924 9.73 GDF2 BMPR2 ACVRL1
25 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.72 BMPR2 BMPR1B ACVRL1
26 proteoglycan biosynthetic process GO:0030166 9.71 BMPR2 BMPR1B
27 positive regulation of endothelial cell differentiation GO:0045603 9.71 GDF2 ACVRL1
28 positive regulation of cartilage development GO:0061036 9.71 GDF2 BMPR2 BMPR1B
29 negative regulation of endothelial cell proliferation GO:0001937 9.71 GDF2 ENG CAV1 ACVRL1
30 chondrocyte development GO:0002063 9.7 BMPR2 BMPR1B
31 lymph node development GO:0048535 9.7 TGFB1 CD248
32 positive regulation of chondrocyte differentiation GO:0032332 9.7 BMPR1B ACVRL1
33 endocardial cushion morphogenesis GO:0003203 9.69 ENG ACVRL1
34 negative regulation of nitric-oxide synthase activity GO:0051001 9.68 ENG CAV1
35 pathway-restricted SMAD protein phosphorylation GO:0060389 9.68 TGFB1 GDF2
36 lymphangiogenesis GO:0001946 9.68 BMPR2 ACVRL1
37 negative regulation of DNA biosynthetic process GO:2000279 9.67 GDF2 BMPR2 ACVRL1
38 positive regulation of BMP signaling pathway GO:0030513 9.67 GDF2 ENG BMPR2 ACVRL1
39 artery development GO:0060840 9.66 BMPR2 ACVRL1
40 retina vasculature development in camera-type eye GO:0061298 9.65 BMPR2 ACVRL1
41 dorsal aorta morphogenesis GO:0035912 9.65 ENG ACVRL1
42 response to laminar fluid shear stress GO:0034616 9.65 TGFB1 KLF2
43 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.65 TGFB1 GDF2 ENG BMPR2 ACVRL1
44 lymphatic endothelial cell differentiation GO:0060836 9.63 BMPR2 ACVRL1
45 negative regulation of chondrocyte proliferation GO:1902731 9.62 BMPR2 BMPR1B
46 endochondral bone morphogenesis GO:0060350 9.62 BMPR2 BMPR1B
47 venous blood vessel development GO:0060841 9.61 BMPR2 ACVRL1
48 endocardial cushion to mesenchymal transition GO:0090500 9.58 ENG ACVRL1
49 cellular response to BMP stimulus GO:0071773 9.55 SMAD9 GDF2 BMPR2 BMPR1B ACVRL1
50 vasculogenesis GO:0001570 9.43 TGFB1 SOX17 KDR GDF2 ENG CAV1

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.88 KDR EIF2AK4 BMPR2 BMPR1B ACVRL1
2 protein kinase activity GO:0004672 9.8 KDR EIF2AK4 BMPR2 BMPR1B ACVRL1
3 activin binding GO:0048185 9.46 ENG ACVRL1
4 BMP binding GO:0036122 9.43 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

Sources for Heritable Pulmonary Arterial Hypertension

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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