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FPAH
MCID: HRT015
MIFTS: 48

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 25 60
Hereditary Pulmonary Arterial Hypertension 60
Familial Pulmonary Arterial Hypertension 60
Familial Primary Pulmonary Hypertension 74
Fpah 60
Hpah 60

Characteristics:

Orphanet epidemiological data:

60
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:

25
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: 35
Orphanet: 60  
Rare respiratory diseases


External Ids:

ICD10 via Orphanet 35 I27.0
UMLS via Orphanet 75 C0340543 C1701939
Orphanet 60 ORPHA275777
UMLS 74 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 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 Bosentan have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

GeneReviews: NBK1485
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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 all 26)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 32.0 ACVRL1 BMPR2 ENG KCNK3
2 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.5
3 idiopathic and/or familial pulmonary arterial hypertension 12.4
4 pulmonary venoocclusive disease 1, autosomal dominant 10.2 BMPR2 EIF2AK4
5 familial vesicoureteral reflux 10.2 SOX17 TGFB1
6 polycythemia vera 10.2
7 eisenmenger syndrome 10.1 BMPR2 TGFB1
8 syncope 10.1
9 eosinophilic variant of chromophobe renal cell carcinoma 10.1 CAV1 TGFB1
10 acoustic neuroma 10.0 AQP1 TGFB1
11 iron metabolism disease 10.0
12 connective tissue disease 10.0
13 central serous chorioretinopathy 10.0
14 ureteral disease 9.9 SOX17 TGFB1
15 chronic pulmonary heart disease 9.9 ACVRL1 BMPR2 SMAD9
16 atrial heart septal defect 9.8
17 hypoxia 9.8
18 pulmonary arteriovenous malformation 9.8 ACVRL1 ENG
19 angiodysplasia 9.7 ACVRL1 ENG
20 weber syndrome 9.7 ACVRL1 ENG
21 arteriovenous malformation 9.7 ACVRL1 BMPR2 ENG
22 hereditary hemorrhagic telangiectasia 9.7 ACVRL1 ENG GDF2
23 arteriovenous malformations of the brain 9.6 ACVRL1 ENG SOX17
24 telangiectasis 9.5 ACVRL1 BMPR2 ENG GDF2
25 pulmonary venoocclusive disease 9.4 ACVRL1 BMPR2 EIF2AK4 KCNK3 TBX4
26 pulmonary hypertension 8.3 ACVRL1 BMPR2 CAV1 EIF2AK4 ENG KCNK3

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



Diseases related to Heritable Pulmonary Arterial Hypertension
Sources

Symptoms & Phenotypes for Heritable Pulmonary Arterial Hypertension

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MGI Mouse Phenotypes related to Heritable Pulmonary Arterial Hypertension:

47 (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
Sources

Drugs & Therapeutics for Heritable Pulmonary Arterial Hypertension

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FDA approved drugs:

# Drug Name Active Ingredient(s) 19 Company Approval Date
1
Adempas 19 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 387)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 147536-97-8 104865
2
Sodium Citrate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 68-04-2
3
Iron Approved, Experimental Phase 4,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
4
Spironolactone Approved Phase 4,Phase 2,Phase 1,Not Applicable 52-01-7, 1952-01-7 5833
5
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 171596-29-5 110635
6
Epoprostenol Approved Phase 4,Phase 3,Phase 2,Not Applicable 35121-78-9, 61849-14-7 5280427 5282411
7
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 78919-13-8 6443959
8
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81846-19-7 54786 6918140
9
Ambrisentan Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 177036-94-1 6918493
10
Macitentan Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 441798-33-0
11
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
12
Riociguat Approved Phase 4,Phase 3,Phase 2,Phase 1 625115-55-1
13
Clevidipine Approved, Investigational Phase 4 167221-71-8
14
Selexipag Approved Phase 4,Phase 3,Phase 2 475086-01-2
15
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
16
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 77-92-9 311
17
Calcium Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7440-70-2 271
18 Tezosentan Investigational Phase 4,Phase 3,Phase 2,Not Applicable 180384-57-0
19 Beraprost Investigational Phase 4,Phase 3,Phase 2 88430-50-6
20 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Sildenafil Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 171599-83-0
22 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
26 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Micronutrients Phase 4,Phase 2,Phase 1,Not Applicable
28 Nutrients Phase 4,Phase 2,Phase 1,Not Applicable
29 Trace Elements Phase 4,Phase 2,Phase 1,Not Applicable
30 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 diuretics Phase 4,Phase 2,Phase 1,Not Applicable
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
33 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
34 Mineralocorticoids Phase 4,Phase 2,Phase 1,Not Applicable
35 Natriuretic Agents Phase 4,Phase 2,Phase 1,Not Applicable
36 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
37 Mineralocorticoid Receptor Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
38 Sodium Channel Blockers Phase 4,Phase 3,Phase 1
39 Vardenafil Dihydrochloride Phase 4,Phase 3
40 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
41 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Anticoagulants Phase 4,Phase 2,Phase 3,Not Applicable
43 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Chelating Agents Phase 4,Phase 2,Phase 3,Not Applicable
45 Endothelin A Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
47 calcium channel blockers Phase 4,Phase 1,Phase 2,Not Applicable
48 Liver Extracts Phase 4,Phase 2
49 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
50 Calamus Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 599)
# Name Status NCT ID Phase Drugs
1 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
2 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
3 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4 oral sildenafil
4 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
5 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
6 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
7 Hypotonic Treprostinil Subcutaneous Infusion for Control of Treprostinil Related Site Pain Unknown status NCT01615627 Phase 4 HypotonicTreprostinil Solution;Eutonic Treprostinil Solution
8 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
9 Epoprostenol for Injection in Pulmonary Arterial Hypertension - Extension of AC-066A401 Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
10 Epoprostenol for Injection in Pulmonary Arterial Hypertension Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
11 An Open-Label Uncontrolled Study of the Safety and Efficacy of Ambrisentan in Participants With Exercise-Induced Pulmonary Arterial Hypertension (PAH) Completed NCT01338636 Phase 4 Ambrisentan
12 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
13 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
14 Safety And Efficacy Of Sildenafil In Children With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
15 Study of Add-on Ambrisentan Therapy to Background Phosphodiesterase Type-5 Inhibitor (PDE5i) Therapy in Pulmonary Arterial Hypertension (ATHENA-1) Completed NCT00617305 Phase 4 Ambrisentan;Placebo;Sildenafil;Tadalafil
16 Safety Evaluation of Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis in Pulmonary Arterial Hypertension (PAH) Subjects Completed NCT00741819 Phase 4 Inhaled treprostinil
17 Effects of the Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Pulmonary Arterial Hypertension (PAH) Completed NCT00303459 Phase 4 bosentan;placebo
18 A Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
19 Assess the Efficacy and Safety of Sildenafil When Added to Bosentan in the Treatment of Pulmonary Arterial Hypertension Completed NCT00323297 Phase 4 Bosentan;Bosentan;Sildenafil Citrate
20 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
21 Combination Therapy in Pulmonary Arterial Hypertension Completed NCT00433329 Phase 4 Bosentan;Sildenafil
22 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
23 Study of a New Thermo Stable Formulation of Epoprostenol Sodium to Treat Pulmonary Arterial Hypertension (PAH) Completed NCT01462565 Phase 4 current marketed FLOLAN (epoprostenol sodium);new thermo stable formulation of epoprostenol sodium
24 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
25 Measuring Outcomes In Patients With Pulmonary Arterial Hypertension Not on Active Treatment (MOTION) Completed NCT02191137 Phase 4 Riociguat (Adempas, BAY63-2521)
26 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
27 Transition From Injectable Prostacyclin Medication to Inhaled Prostacyclin Medication Completed NCT01268553 Phase 4 Treprostinil
28 Safety and Tolerability of Rapid Dose Titration of Subcutaneous Remodulin® Therapy in PAH Subjects (RAPID) Completed NCT02847260 Phase 4 Remodulin
29 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
30 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
31 The Effect of Tracleer® on Male Fertility Completed NCT00082186 Phase 4 bosentan
32 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4 bosentan
33 Evaluation of a New Thermostable Formulation of FLOLAN in Japanese Subjects Completed NCT02705807 Phase 4 FLOLAN injection with currently marketed diluent;FLOLAN injection with reformulated diluent
34 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Children Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
35 A 48-week Study of the Effect of Dual Therapy (Inhaled Treprostinil and Tadafafil) Versus Monotherapy (Tadalafil). Completed NCT01305252 Phase 4 treprostinil inhalations;tadalafil
36 Safety, Efficacy and Treatment Satisfaction in Patients With PAH Rapidly Switched From Epoprostenol to Remodulin Completed NCT00373360 Phase 4 treprostinil sodium
37 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Completed NCT01051960 Phase 4 Ambrisentan
38 Study of Sildenafil Effects in Combination With Rehabilitation in Patients With Chronic Obstructive Pulmonary Disease (COPD) and Associated Pulmonary Hypertension Completed NCT01055405 Phase 4 Sildenafil
39 Clevidipine for Vasoreactivity Evaluation of the Pulmonary Arterial Bed Completed NCT01121458 Phase 4 Clevidipine
40 Sildenafil Effects on Pulmonary Haemodynamics and Gas Exchange in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
41 EXPEDITE: A Study of Remodulin Induction Followed by Orenitram Optimization to Treat Pulmonary Arterial Hypertension Recruiting NCT03497689 Phase 4 Intravenous/Subcutaneous Treprostinil; Oral Treprostinil
42 Effect of Selexipag on Daily Life Physical Activity of Patients With Pulmonary Arterial Hypertension. Recruiting NCT03078907 Phase 4 Selexipag;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

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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:

42
Lung, Heart, Testes, Endothelial, Liver, Bone, Brain
Sources

Publications for Heritable Pulmonary Arterial Hypertension

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Articles related to Heritable Pulmonary Arterial Hypertension:

(show all 46)
# Title Authors Year
1
Clinical Effects of Syncope on Disease Severity and Adverse Outcomes in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 30291385 )
2019
2
Correction to: Clinical Effects of Syncope on Disease Severity and Adverse Outcomes in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 30556104 )
2019
3
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. ( 30679663 )
2019
4
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension. ( 30894412 )
2019
5
Hypoxemia in patients with idiopathic or heritable pulmonary arterial hypertension. ( 29377954 )
2018
6
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. ( 29650961 )
2018
7
Factors Associated with Heritable Pulmonary Arterial Hypertension Exert Convergent Actions on the miR-130/301-Vascular Matrix Feedback Loop. ( 30081553 )
2018
8
Pulmonary Arterial Capacitance Index Is a Strong Predictor for Adverse Outcome in Children with Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 27810156 )
2017
9
Tadalafil in idiopathic or heritable pulmonary arterial hypertension (PAH) compared to PAH associated with connective tissue disease. ( 28279499 )
2017
10
First identification of KrA1ppel-like factor 2 mutation in heritable pulmonary arterial hypertension. ( 28188237 )
2017
11
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
12
Hypermethylation of BMPR2 Promoter Occurs in Patients with Heritable Pulmonary Arterial Hypertension and Inhibits BMPR2 Expression. ( 28170297 )
2017
13
Survival of Japanese Patients With Idiopathic/Heritable Pulmonary Arterial Hypertension. ( 28267959 )
2017
14
Bilaterally dilated episcleral vessels in patients with heritable pulmonary arterial hypertension. ( 29264093 )
2017
15
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
16
Clinical Impact of Main Pulmonary Artery Dilatation on Outcome in Pediatric Idiopathic and Heritable Pulmonary Arterial Hypertension. ( 28904266 )
2017
17
From bone morphogenic protein receptor II mutations to heritable pulmonary arterial hypertension-the long and winding road. ( 27646063 )
2016
18
Rapid and high-dose titration of epoprostenol improves pulmonary hemodynamics and clinical outcomes in patients with idiopathic and heritable pulmonary arterial hypertension. ( 27005767 )
2016
19
Elevated levels of plasma transforming growth factor-I^1 in idiopathic and heritable pulmonary arterial hypertension. ( 27500766 )
2016
20
Serotonin 2B Receptor Antagonism Prevents Heritable Pulmonary Arterial Hypertension. ( 26863209 )
2016
21
Pregnancy as a possible trigger for heritable pulmonary arterial hypertension. ( 27683615 )
2016
22
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. ( 25612240 )
2015
23
MULTIFOCAL CENTRAL SEROUS CHORIORETINOPATHY WITH PHOTORECEPTOR-RETINAL PIGMENT EPITHELIUM DIASTASIS IN HERITABLE PULMONARY ARTERIAL HYPERTENSION. ( 25383848 )
2014
24
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
25
Non-BMPR2 mutation heritable pulmonary arterial hypertension in Southeast Asia. ( 24948783 )
2014
26
Long-term patient survival with idiopathic/heritable pulmonary arterial hypertension treated at a single center in Japan. ( 24530872 )
2014
27
Treatment of idiopathic/hereditary pulmonary arterial hypertension. ( 25082294 )
2014
28
Spleen size in idiopathic and heritable pulmonary arterial hypertension. ( 22869505 )
2013
29
Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension. ( 24224048 )
2013
30
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 23579436 )
2013
31
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. ( 25356964 )
2013
32
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
33
Evidence for Right Ventricular Lipotoxicity in Heritable Pulmonary Arterial Hypertension. ( 24274756 )
2013
34
Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance. ( 22923426 )
2012
35
Heritable pulmonary arterial hypertension with elevated pulmonary wedge pressure. ( 22927477 )
2012
36
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. ( 21737554 )
2012
37
Impaired natural killer cell phenotype and function in idiopathic and heritable pulmonary arterial hypertension. ( 22832786 )
2012
38
Cardiopulmonary exercise testing reveals onset of disease and response to treatment in a case of heritable pulmonary arterial hypertension. ( 23130108 )
2012
39
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. ( 22923661 )
2012
40
Prevalence and prognostic value of left ventricular diastolic dysfunction in idiopathic and heritable pulmonary arterial hypertension. ( 22207680 )
2012
41
Pre-implantation genetic testing for hereditary pulmonary arterial hypertension: promise and caution. ( 22654004 )
2012
42
Unexplained iron deficiency in idiopathic and heritable pulmonary arterial hypertension. ( 21297151 )
2011
43
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. ( 21920918 )
2011
44
Occlusive venopathy phenotype in hereditary pulmonary arterial hypertension. ( 21894395 )
2011
45
Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension. ( 21030519 )
2010
46
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. ( 19785764 )
2009
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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:

# Super pathways Score Top Affiliating Genes
1
Fluid shear stress and atherosclerosis 38
11.75 BMPR2 CAV1 KLF2
2
Wnt / Hedgehog / Notch 4
11.72 BMPR2 ENG SMAD9 TGFB1
3
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.7 KLF2 SOX17 TGFB1
4
TGF-beta signaling pathway (KEGG) 38
11.45 BMPR2 SMAD9 TGFB1
5
TGF-beta Signaling Pathways 66
11.24 ACVRL1 ENG SMAD9 TGFB1
6
TGF-beta Receptor Signaling (WikiPathways) 1
11.2 ENG SMAD9 TGFB1
7
Cardiomyocyte Differentiation through BMP Receptors 65
10.8 BMPR2 SMAD9
8
ALK1 signaling events 1
Show member pathways
 10.53 ACVRL1 BMPR2 CAV1 GDF2 SMAD9 TGFB1
9
ALK2 signaling events 1
10.41 BMPR2 SMAD9
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 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 9.85 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 9.46 GDF2 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

Sources for Heritable Pulmonary Arterial Hypertension

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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52 NDF-RT
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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