FPAH
MCID: HRT015
MIFTS: 44

Heritable Pulmonary Arterial Hypertension (FPAH)

Categories: 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 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 Fluid shear stress and atherosclerosis and Wnt / Hedgehog / Notch. The drugs Adempas and Iron have been mentioned in the context of this disorder. Affiliated tissues include endothelial, testes and bone, and related phenotypes are cardiovascular system and homeostasis/metabolism

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

MGI Mouse Phenotypes related to Heritable Pulmonary Arterial Hypertension:

46 (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 homeostasis/metabolism MP:0005376 10.26 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
3 growth/size/body region MP:0005378 10.25 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
4 behavior/neurological MP:0005386 10.2 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
5 hematopoietic system MP:0005397 10.15 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
6 mortality/aging MP:0010768 10.14 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
7 embryo MP:0005380 10.13 ACVRL1 BMPR2 ENG KLF2 SMAD9 SOX17
8 immune system MP:0005387 10.06 BMPR2 CAV1 EIF2AK4 GDF2 KLF2 SMAD9
9 muscle MP:0005369 10.02 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KLF2
10 nervous system MP:0003631 10.02 ACVRL1 AQP1 BMPR2 CAV1 EIF2AK4 ENG
11 liver/biliary system MP:0005370 9.91 ACVRL1 CAV1 EIF2AK4 KLF2 SOX17 TGFB1
12 normal MP:0002873 9.86 ACVRL1 BMPR2 ENG KCNK3 KLF2 SMAD9
13 reproductive system MP:0005389 9.7 AQP1 CAV1 EIF2AK4 GDF2 SMAD9 SOX17
14 respiratory system MP:0005388 9.61 ACVRL1 AQP1 BMPR2 CAV1 ENG KCNK3
15 skeleton MP:0005390 9.23 AQP1 BMPR2 CAV1 GDF2 KLF2 SMAD9

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 339)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Not Applicable 7439-89-6 23925
2
Spironolactone Approved Phase 4,Phase 2,Phase 1,Not Applicable 52-01-7, 1952-01-7 5833
3
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 78919-13-8 6443959
4
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 171596-29-5 110635
5
Epoprostenol Approved Phase 4,Phase 3,Phase 2,Not Applicable 61849-14-7, 35121-78-9 5280427 5282411
6
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81846-19-7 54786 6918140
7
Ambrisentan Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 177036-94-1 6918493
8
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 147536-97-8 104865
9
Macitentan Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 441798-33-0
10
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
11
Clevidipine Approved, Investigational Phase 4 167221-71-8
12 Selexipag Approved Phase 4,Phase 3,Phase 2 475086-01-2
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 77-92-9 311
15 Tezosentan Investigational Phase 4,Phase 3,Phase 2,Not Applicable 180384-57-0
16 Beraprost Investigational Phase 4,Phase 3,Phase 2 88430-50-6
17 Trace Elements Phase 4,Phase 2,Phase 1,Not Applicable
18 Micronutrients Phase 4,Phase 2,Phase 1,Not Applicable
19 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Sildenafil Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 171599-83-0
21 Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
22 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
24 Mineralocorticoids Phase 4,Phase 2,Phase 1,Not Applicable
25 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
26 Natriuretic Agents Phase 4,Phase 2,Phase 1,Not Applicable
27 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
28 Sodium Channel Blockers Phase 4,Phase 3,Phase 1
29 diuretics Phase 4,Phase 2,Phase 1,Not Applicable
30 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Mineralocorticoid Receptor Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
33 Vardenafil Dihydrochloride Phase 4,Phase 3
34 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
36 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
38 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
39 Anticoagulants Phase 4,Phase 2,Phase 3,Not Applicable
40 Chelating Agents Phase 4,Phase 2,Phase 3,Not Applicable
41 Endothelin A Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
43 calcium channel blockers Phase 4,Phase 1,Not Applicable
44 Liver Extracts Phase 4,Phase 2
45 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
46 Calamus Phase 4,Phase 3,Phase 2
47 Natriuretic Peptide, Brain Phase 4
48 Central Nervous System Depressants Phase 4,Phase 2
49 Anesthetics Phase 4,Phase 2
50 Anesthetics, Local Phase 4

Interventional clinical trials:

(show top 50) (show all 586)
# Name Status NCT ID Phase Drugs
1 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
2 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4 oral sildenafil
3 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
4 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
5 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
6 Hypotonic Treprostinil Subcutaneous Infusion for Control of Treprostinil Related Site Pain Unknown status NCT01615627 Phase 4 HypotonicTreprostinil Solution;Eutonic Treprostinil Solution
7 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
8 Epoprostenol for Injection in Pulmonary Arterial Hypertension - Extension of AC-066A401 Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
9 Epoprostenol for Injection in Pulmonary Arterial Hypertension Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
10 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
11 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
12 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
13 Safety And Efficacy Of Sildenafil In Children With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
14 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
15 Safety Evaluation of Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis in Pulmonary Arterial Hypertension (PAH) Subjects Completed NCT00741819 Phase 4 Inhaled treprostinil
16 Effects of the Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Pulmonary Arterial Hypertension (PAH) Completed NCT00303459 Phase 4 bosentan;placebo
17 A Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
18 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
19 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
20 Combination Therapy in Pulmonary Arterial Hypertension Completed NCT00433329 Phase 4 Bosentan;Sildenafil
21 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
22 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
23 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
24 Measuring Outcomes In Patients With Pulmonary Arterial Hypertension Not on Active Treatment (MOTION) Completed NCT02191137 Phase 4 Riociguat (Adempas, BAY63-2521)
25 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
26 Transition From Injectable Prostacyclin Medication to Inhaled Prostacyclin Medication Completed NCT01268553 Phase 4 Treprostinil
27 Safety and Tolerability of Rapid Dose Titration of Subcutaneous Remodulin® Therapy in PAH Subjects (RAPID) Completed NCT02847260 Phase 4 Remodulin
28 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
29 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
30 The Effect of Tracleer® on Male Fertility Completed NCT00082186 Phase 4 bosentan
31 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4 bosentan
32 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
33 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Children Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
34 A 48-week Study of the Effect of Dual Therapy (Inhaled Treprostinil and Tadafafil) Versus Monotherapy (Tadalafil). Completed NCT01305252 Phase 4 treprostinil inhalations;tadalafil
35 Safety, Efficacy and Treatment Satisfaction in Patients With PAH Rapidly Switched From Epoprostenol to Remodulin Completed NCT00373360 Phase 4 treprostinil sodium
36 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Completed NCT01051960 Phase 4 Ambrisentan
37 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
38 Clevidipine for Vasoreactivity Evaluation of the Pulmonary Arterial Bed Completed NCT01121458 Phase 4 Clevidipine
39 Sildenafil Effects on Pulmonary Haemodynamics and Gas Exchange in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
40 EXPEDITE: A Study of Remodulin Induction Followed by Orenitram Optimization to Treat Pulmonary Arterial Hypertension Recruiting NCT03497689 Phase 4 Intravenous/Subcutaneous Treprostinil; Oral Treprostinil
41 Effect of Selexipag on Daily Life Physical Activity of Patients With Pulmonary Arterial Hypertension. Recruiting NCT03078907 Phase 4 Selexipag;Placebo
42 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
43 Upfront Combination Pulmonary Arterial Hypertension Therapy Recruiting NCT03809156 Phase 4 Riociguat Oral Product
44 Riociguat rEplacing PDE-5i Therapy evaLuated Against Continued PDE-5i thErapy Recruiting NCT02891850 Phase 4 Adempas (Riociguat, BAY63-2521);Sildenafil;Tadalafil
45 Crossover Study From Macitentan or Bosentan Over to Ambrisentan Recruiting NCT02885012 Phase 4 Ambrisentan
46 A Study to Investigate the Efficacy of PADN to Improved Functional Capacity and Hemodynamics in Patients With PAH Recruiting NCT02284737 Phase 4 Sildenafil
47 Effects of Oral Sildenafil on Mortality in Adults With PAH Recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate
48 A Long-term Extension Study of Riociguat in Patients With Symptomatic Pulmonary Arterial Hypertension. Recruiting NCT02759419 Phase 4 Adempas (Riociguat, BAY63-2521)
49 Spironolactone Therapy in Chronic Stable Right HF Trial Recruiting NCT03344159 Phase 4 Spironolactone;Placebo
50 REPAIR: Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Active, not recruiting NCT02310672 Phase 4 Macitentan

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
Endothelial, Testes, Bone, Spleen, Brain, Heart

Publications for Heritable Pulmonary Arterial Hypertension

Articles related to Heritable Pulmonary Arterial Hypertension:

(show all 44)
# 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
Clinical Impact of Main Pulmonary Artery Dilatation on Outcome in Pediatric Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 28904266 )
2018
4
Factors Associated with Heritable Pulmonary Arterial Hypertension Exert Convergent Actions on the miR-130/301-Vascular Matrix Feedback Loop. ( 30081553 )
2018
5
Clinical Effects of Syncope on Disease Severity and Adverse Outcomes in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 30291385 )
2018
6
Correction to: Clinical Effects of Syncope on Disease Severity and Adverse Outcomes in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 30556104 )
2018
7
Pulmonary Arterial Capacitance Index Is a Strong Predictor for Adverse Outcome in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 27810156 )
2017
8
Tadalafil in idiopathic or heritable pulmonary arterial hypertension (PAH) compared to PAH associated with connective tissue disease. ( 28279499 )
2017
9
First identification of KrA1ppel-like factor 2 mutation in heritable pulmonary arterial hypertension. ( 28188237 )
2017
10
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
11
Hypermethylation of BMPR2 Promoter Occurs in Patients with Heritable Pulmonary Arterial Hypertension and Inhibits BMPR2 Expression. ( 28170297 )
2017
12
Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension. ( 28267959 )
2017
13
Bilaterally dilated episcleral vessels in patients with heritable pulmonary arterial hypertension. ( 29264093 )
2017
14
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
15
From bone morphogenic protein receptor II mutations to heritable pulmonary arterial hypertension-the long and winding road. ( 27646063 )
2016
16
Rapid and high-dose titration of epoprostenol improves pulmonary hemodynamics and clinical outcomes in patients with idiopathic and heritable pulmonary arterial hypertension. ( 27005767 )
2016
17
Elevated levels of plasma transforming growth factor-I^1 in idiopathic and heritable pulmonary arterial hypertension. ( 27500766 )
2016
18
Serotonin 2B Receptor Antagonism Prevents Heritable Pulmonary Arterial Hypertension. ( 26863209 )
2016
19
Pregnancy as a possible trigger for heritable pulmonary arterial hypertension. ( 27683615 )
2016
20
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. ( 25612240 )
2015
21
MULTIFOCAL CENTRAL SEROUS CHORIORETINOPATHY WITH PHOTORECEPTOR-RETINAL PIGMENT EPITHELIUM DIASTASIS IN HERITABLE PULMONARY ARTERIAL HYPERTENSION. ( 25383848 )
2014
22
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
23
Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia. ( 24948783 )
2014
24
Long-term patient survival with idiopathic/heritable pulmonary arterial hypertension treated at a single center in Japan. ( 24530872 )
2014
25
Treatment of idiopathic/hereditary pulmonary arterial hypertension. ( 25082294 )
2014
26
Spleen size in idiopathic and heritable pulmonary arterial hypertension. ( 22869505 )
2013
27
Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension. ( 24224048 )
2013
28
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 23579436 )
2013
29
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 25356964 )
2013
30
Should cardiopulmonary exercise testing become a part of regular evaluation for patients with a family history of pulmonary hypertension? Regarding &amp;quot;Cardiopulmonary exercise testing reveals onset of disease and response to treatment in a case of heritable pulmonary arterial hypertension&amp;quot;. ( 23662184 )
2013
31
Evidence for Right Ventricular Lipotoxicity in Heritable Pulmonary Arterial Hypertension. ( 24274756 )
2013
32
Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance. ( 22923426 )
2012
33
Heritable pulmonary arterial hypertension with elevated pulmonary wedge pressure. ( 22927477 )
2012
34
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. ( 21737554 )
2012
35
Impaired natural killer cell phenotype and function in idiopathic and heritable pulmonary arterial hypertension. ( 22832786 )
2012
36
Cardiopulmonary exercise testing reveals onset of disease and response to treatment in a case of heritable pulmonary arterial hypertension. ( 23130108 )
2012
37
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. ( 22923661 )
2012
38
Prevalence and prognostic value of left ventricular diastolic dysfunction in idiopathic and heritable pulmonary arterial hypertension. ( 22207680 )
2012
39
Pre-implantation genetic testing for hereditary pulmonary arterial hypertension: promise and caution. ( 22654004 )
2012
40
Unexplained iron deficiency in idiopathic and heritable pulmonary arterial hypertension. ( 21297151 )
2011
41
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. ( 21920918 )
2011
42
Occlusive venopathy phenotype in hereditary pulmonary arterial hypertension. ( 21894395 )
2011
43
Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension. ( 21030519 )
2010
44
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. ( 19785764 )
2009

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 receptor complex GO:0043235 9.13 ACVRL1 BMPR2 ENG
2 basal plasma membrane GO:0009925 8.62 AQP1 BMPR2

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.97 CAV1 ENG GDF2 SOX17 TGFB1
2 response to drug GO:0042493 9.94 AQP1 ENG KCNK3 TGFB1
3 response to hypoxia GO:0001666 9.86 ACVRL1 CAV1 TGFB1
4 cellular calcium ion homeostasis GO:0006874 9.82 ATP13A3 CAV1 TGFB1
5 positive regulation of angiogenesis GO:0045766 9.81 ACVRL1 AQP1 ENG GDF2
6 cellular response to mechanical stimulus GO:0071260 9.8 AQP1 ENG TGFB1
7 negative regulation of cell growth GO:0030308 9.8 ACVRL1 BMPR2 GDF2 SOX17 TGFB1
8 transforming growth factor beta receptor signaling pathway GO:0007179 9.78 ACVRL1 BMPR2 SMAD9 TGFB1
9 positive regulation of endothelial cell proliferation GO:0001938 9.77 ACVRL1 BMPR2 GDF2
10 cellular response to transforming growth factor beta stimulus GO:0071560 9.77 ACVRL1 CAV1 TGFB1
11 SMAD protein signal transduction GO:0060395 9.75 GDF2 SMAD9 TGFB1
12 angiogenesis GO:0001525 9.73 ACVRL1 CAV1 ENG GDF2 SOX17 TBX4
13 negative regulation of blood vessel endothelial cell migration GO:0043537 9.72 ACVRL1 GDF2 TGFB1
14 mammary gland development GO:0030879 9.7 CAV1 TGFB1
15 response to progesterone GO:0032570 9.7 CAV1 TGFB1
16 positive regulation of bone mineralization GO:0030501 9.7 BMPR2 TGFB1
17 cellular response to dexamethasone stimulus GO:0071549 9.7 AQP1 TGFB1
18 negative regulation of endothelial cell proliferation GO:0001937 9.7 ACVRL1 CAV1 GDF2
19 blood vessel remodeling GO:0001974 9.69 ACVRL1 BMPR2
20 endoderm development GO:0007492 9.69 SOX17 TGFB1
21 blood vessel morphogenesis GO:0048514 9.69 ACVRL1 GDF2
22 branching involved in blood vessel morphogenesis GO:0001569 9.68 ENG GDF2
23 outflow tract septum morphogenesis GO:0003148 9.68 BMPR2 ENG
24 positive regulation of collagen biosynthetic process GO:0032967 9.68 ENG TGFB1
25 negative regulation of endothelial cell migration GO:0010596 9.67 ACVRL1 GDF2
26 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.67 ENG TGFB1
27 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.67 ACVRL1 BMPR2
28 cellular response to BMP stimulus GO:0071773 9.67 ACVRL1 BMPR2 GDF2 SMAD9
29 positive regulation of endothelial cell differentiation GO:0045603 9.66 ACVRL1 GDF2
30 endocardial cushion morphogenesis GO:0003203 9.66 ACVRL1 ENG
31 positive regulation of cartilage development GO:0061036 9.65 BMPR2 GDF2
32 pathway-restricted SMAD protein phosphorylation GO:0060389 9.65 GDF2 TGFB1
33 lymphangiogenesis GO:0001946 9.64 ACVRL1 BMPR2
34 activin receptor signaling pathway GO:0032924 9.63 ACVRL1 BMPR2 GDF2
35 artery development GO:0060840 9.62 ACVRL1 BMPR2
36 dorsal aorta morphogenesis GO:0035912 9.62 ACVRL1 ENG
37 positive regulation of BMP signaling pathway GO:0030513 9.62 ACVRL1 BMPR2 ENG GDF2
38 response to laminar fluid shear stress GO:0034616 9.61 KLF2 TGFB1
39 retina vasculature development in camera-type eye GO:0061298 9.61 ACVRL1 BMPR2
40 negative regulation of DNA biosynthetic process GO:2000279 9.61 ACVRL1 BMPR2 GDF2
41 lymphatic endothelial cell differentiation GO:0060836 9.58 ACVRL1 BMPR2
42 venous blood vessel development GO:0060841 9.56 ACVRL1 BMPR2
43 BMP signaling pathway GO:0030509 9.55 ACVRL1 BMPR2 ENG GDF2 SMAD9
44 endocardial cushion to mesenchymal transition GO:0090500 9.54 ACVRL1 ENG
45 vasculogenesis GO:0001570 9.35 CAV1 ENG GDF2 SOX17 TGFB1
46 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.02 ACVRL1 BMPR2 ENG GDF2 TGFB1
47 positive regulation of transcription by RNA polymerase II GO:0045944 10.04 ACVRL1 BMPR2 ENG GDF2 KLF2 SOX17
48 positive regulation of transcription, DNA-templated GO:0045893 10.03 ACVRL1 GDF2 KLF2 SOX17 TGFB1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.63 GDF2 KCNK3 TGFB1
2 transforming growth factor beta binding GO:0050431 9.43 ACVRL1 ENG
3 transforming growth factor beta-activated receptor activity GO:0005024 9.4 ACVRL1 BMPR2
4 activin binding GO:0048185 9.37 ACVRL1 ENG
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.32 ACVRL1 BMPR2
6 type I transforming growth factor beta receptor binding GO:0034713 9.26 ENG TGFB1
7 BMP binding GO:0036122 9.16 BMPR2 ENG
8 BMP receptor activity GO:0098821 8.96 ACVRL1 BMPR2
9 type II transforming growth factor beta receptor binding GO:0005114 8.62 ENG TGFB1

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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