PPH1
MCID: PLM164
MIFTS: 70

Pulmonary Hypertension, Primary, 1 (PPH1)

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

Aliases & Classifications for Pulmonary Hypertension, Primary, 1

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 1:

Name: Pulmonary Hypertension, Primary, 1 58 76
Pulmonary Arterial Hypertension 58 54 26 38 30 6 17 74
Idiopathic Pulmonary Arterial Hypertension 54 60 74
Idiopathic Pulmonary Hypertension 54 26 74
Pah 58 54 26
Familial Primary Pulmonary Hypertension 26 74
Sporadic Primary Pulmonary Hypertension 26 74
Primary Pulmonary Hypertension 54 26
Pph1 58 76
Pph 54 26
Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 58
Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 58
Hereditary Pulmonary Arterial Hypertension 54
Heritable Pulmonary Arterial Hypertension 54
Familial Pulmonary Arterial Hypertension 54
Pulmonary Hypertension, Familial Primary 13
Hypertension, Pulmonary, Primary, Type 1 41
Primary Pulmonary Arterial Hypertension 60
Pulmonary Arterial Hypertension; Pah 58
Ayerza's Syndrome 74
Ayerza Syndrome 26
Fpah 54
Fpph 26
Ppht 26
Ipah 60
Pht 58

Characteristics:

Orphanet epidemiological data:

60
idiopathic pulmonary arterial hypertension
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/1000000 (Spain),1-9/100000 (Czech Republic),1-9/1000000 (Czech Republic),1-9/1000000 (Switzerland),1-9/1000000 (United Kingdom),1-9/100000 (United Kingdom),1-9/1000000 (United States),1-9/1000000 (Belgium),1-9/1000000 (Israel),1-9/100000 (Europe); Age of onset: All ages; Age of death: adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
usually presents in third to fourth decade (but onset can range from childhood to elderly)
female to male ratio ranges from 2:1 to 4:1
prevalence in the finnish population of 5.8 per million
incidence in the finnish population of 0.2-1.3 cases per million per year


HPO:

33
pulmonary hypertension, primary, 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare respiratory diseases


Summaries for Pulmonary Hypertension, Primary, 1

OMIM : 58 Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013). Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). (178600)

MalaCards based summary : Pulmonary Hypertension, Primary, 1, also known as pulmonary arterial hypertension, is related to scleroderma, familial progressive and eisenmenger syndrome, and has symptoms including dyspnea An important gene associated with Pulmonary Hypertension, Primary, 1 is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are TGF-beta signaling pathway and Wnt / Hedgehog / Notch. The drugs Bosentan and Sodium Citrate have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and testes, and related phenotypes are dyspnea and pulmonary arterial hypertension

Genetics Home Reference : 26 Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart.

NIH Rare Diseases : 54 Pulmonary arterial hypertension(PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. When PAH is inherited from an affected relative it is called "familial" PAH. Cases with no identifiable cause may be referred to as "idiopathic" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines. 

UniProtKB/Swiss-Prot : 76 Pulmonary hypertension, primary, 1: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

Related Diseases for Pulmonary Hypertension, Primary, 1

Diseases in the Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 1 Pulmonary Hypertension, Primary, Autosomal Recessive
Pulmonary Hypertension, Primary, 2 Pulmonary Hypertension, Primary, 3
Pulmonary Hypertension, Primary, 4

Diseases related to Pulmonary Hypertension, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 427)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 32.4 BMP6 EDN1
2 eisenmenger syndrome 30.9 BMPR2 EDN1
3 pulmonary venoocclusive disease 30.8 ACVRL1 BMPR2 KCNK3
4 pulmonary arteriovenous malformation 30.6 ACVRL1 ENG
5 arteriovenous malformation 30.5 ACVRL1 BMPR2 ENG
6 connective tissue disease 30.5 ACVRL1 BMPR2 EDN1
7 chronic thromboembolic pulmonary hypertension 30.4 BMPR2 NPPB
8 tricuspid valve insufficiency 30.4 ACVRL1 NPPB
9 telangiectasis 30.3 ACVRL1 BMP6 BMPR2 ENG
10 heritable pulmonary arterial hypertension 30.2 ACVRL1 BMPR2 ENG KCNK3
11 cardiac tamponade 30.2 ACVRL1 NPPB
12 mitral valve stenosis 30.1 ACVRL1 NPPA NPPB
13 syncope 30.1 NPPA NPPB
14 hepatopulmonary syndrome 30.0 ACVRL1 BMPR2 EDN1
15 pulmonary edema 29.9 EDN1 NPPA NPPB
16 diastolic heart failure 29.8 NPPA NPPB
17 pulmonary fibrosis, idiopathic 29.8 ABCA3 BMP6 EDN1
18 vascular disease 29.7 ACVRL1 BMP6 BMPR2 EDN1 ENG
19 central sleep apnea 29.7 NPPA NPPB
20 tetralogy of fallot 29.7 EDN1 NPPA NPPB
21 renal hypertension 29.5 EDN1 NPPB
22 arteries, anomalies of 29.4 ACVRL1 BMPR2 EDN1 NPPB
23 liver cirrhosis 29.4 EDN1 MALAT1 NPPA
24 coronary artery anomaly 29.4 EDN1 NPPA NPPB
25 congestive heart failure 29.4 EDN1 NPPA NPPB
26 pre-eclampsia 29.2 EDN1 ENG MALAT1 NPPA
27 pulmonary hypertension 29.0 ACVRL1 BMPR2 EDN1 ENG KCNK3 NPPA
28 phenylketonuria 12.6
29 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.5
30 idiopathic and/or familial pulmonary arterial hypertension 12.4
31 cowden syndrome 1 12.2
32 neutropenia, severe congenital, 4, autosomal recessive 12.0
33 mild phenylketonuria 12.0
34 lymphedema and cerebral arteriovenous anomaly 11.8
35 hyperphenylalaninemia, bh4-deficient, a 11.8
36 hyperphenylalaninemia 11.7
37 pulmonary venoocclusive disease 1, autosomal dominant 11.7
38 mild hyperphenylalaninemia 11.6
39 systemic scleroderma 11.6
40 classic phenylketonuria 11.6
41 patent foramen ovale 11.5
42 tetrahydrobiopterin deficiency 11.5
43 pulmonary venoocclusive disease 2, autosomal recessive 11.5
44 juvenile polyposis syndrome 11.3
45 tyrosinemia 11.3
46 gaucher disease, type iii 11.2
47 atrial septal defect 9 11.2
48 pulmonary vein stenosis 11.2
49 pulmonary venous return anomaly 11.2
50 acyl-coa dehydrogenase, short-chain, deficiency of 11.2

Comorbidity relations with Pulmonary Hypertension, Primary, 1 via Phenotypic Disease Network (PDN): (show all 38)


Active Peptic Ulcer Disease Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Anxiety Aortic Valve Disease 1
Bronchitis Cardiac Arrest
Chronic Kidney Failure Chronic Myocardial Ischemia
Chronic Pulmonary Heart Disease Deficiency Anemia
Familial Atrial Fibrillation First-Degree Atrioventricular Block
Heart Disease Hypertension, Essential
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome Hypothyroidism
Idiopathic Interstitial Pneumonia Intermediate Coronary Syndrome
Iron Deficiency Anemia Ischemic Heart Disease
Kidney Disease Mitral Valve Disease
Mitral Valve Stenosis Nutmeg Liver
Peripheral Vascular Disease Postinflammatory Pulmonary Fibrosis
Protein-Energy Malnutrition Pulmonary Valve Disease
Respiratory Failure Rheumatic Heart Disease
Right Bundle Branch Block Sinoatrial Node Disease
Sleep Apnea Systemic Scleroderma
Third-Degree Atrioventricular Block Tricuspid Valve Disease

Graphical network of the top 20 diseases related to Pulmonary Hypertension, Primary, 1:



Diseases related to Pulmonary Hypertension, Primary, 1

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 1

Human phenotypes related to Pulmonary Hypertension, Primary, 1:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 60 33 frequent (33%) Obligate (100%) HP:0002094
2 pulmonary arterial hypertension 60 33 very rare (1%) Very frequent (99-80%) HP:0002092
3 chest pain 60 33 hallmark (90%) Frequent (79-30%) HP:0100749
4 right ventricular hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001667
5 increased pulmonary vascular resistance 60 33 hallmark (90%) Very frequent (99-80%) HP:0005317
6 right ventricular failure 33 hallmark (90%) HP:0001708
7 elevated right atrial pressure 33 hallmark (90%) HP:0005168
8 abnormal jugular vein morphology 33 hallmark (90%) HP:3000042
9 congestive heart failure 60 33 occasional (7.5%) Frequent (79-30%) HP:0001635
10 syncope 60 33 frequent (33%) Frequent (79-30%) HP:0001279
11 tricuspid regurgitation 60 33 frequent (33%) Frequent (79-30%) HP:0005180
12 palpitations 60 33 frequent (33%) Occasional (29-5%) HP:0001962
13 heart murmur 60 33 frequent (33%) Frequent (79-30%) HP:0030148
14 ankle swelling 60 33 frequent (33%) Frequent (79-30%) HP:0001785
15 edema of the dorsum of feet 60 33 frequent (33%) Frequent (79-30%) HP:0012098
16 hepatomegaly 33 frequent (33%) HP:0002240
17 fatigue 33 frequent (33%) HP:0012378
18 abnormal thrombosis 33 frequent (33%) HP:0001977
19 vertigo 33 frequent (33%) HP:0002321
20 pulmonary artery vasoconstriction 33 frequent (33%) HP:0005308
21 pedal edema 33 frequent (33%) HP:0010741
22 pulmonary arterial medial hypertrophy 33 frequent (33%) HP:0004964
23 pulmonary aterial intimal fibrosis 33 frequent (33%) HP:0005312
24 hemoptysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002105
25 sudden cardiac death 33 occasional (7.5%) HP:0001645
26 recurrent respiratory infections 33 occasional (7.5%) HP:0002205
27 acrocyanosis 33 occasional (7.5%) HP:0001063
28 ascites 33 occasional (7.5%) HP:0001541
29 capillary hemangioma 33 occasional (7.5%) HP:0005306
30 abnormal tricuspid valve morphology 33 occasional (7.5%) HP:0001702
31 hypertension 33 HP:0000822
32 chronic hemolytic anemia 60 Excluded (0%)
33 edema of the lower limbs 60 Occasional (29-5%)
34 telangiectasia 33 HP:0001009
35 elevated pulmonary artery pressure 60 Very frequent (99-80%)
36 abnormality of jugular vein 60 Very frequent (99-80%)
37 abnormality of connective tissue 60 Excluded (0%)
38 arterial intimal fibrosis 33 HP:0011353

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
dyspnea
pulmonary function tests may show restrictive pattern

Cardiovascular Vascular:
increased pulmonary vascular resistance
increased pulmonary artery pressure (mean greater than 25 mm hg at rest and 30 mm hg during exercise)
pulmonary artery vasoconstriction
arterial vascular wall remodeling
arteries show medial hypertrophy
more
Laboratory Abnormalities:
arterial hypoxemia

Cardiovascular Heart:
right ventricular hypertrophy
right ventricular failure
decreased cardiac output
elevated right atrial pressure

Hematology:
thrombosis

Clinical features from OMIM:

178600

UMLS symptoms related to Pulmonary Hypertension, Primary, 1:


dyspnea

MGI Mouse Phenotypes related to Pulmonary Hypertension, Primary, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 ABCA3 ACVRL1 BMPR2 EDN1 ENG FOXF1
2 muscle MP:0005369 9.5 ACVRL1 BMPR2 EDN1 ENG FOXF1 NPPA
3 respiratory system MP:0005388 9.1 ABCA3 ACVRL1 BMPR2 ENG FOXF1 KCNK3

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 1

Drugs for Pulmonary Hypertension, Primary, 1 (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 27284 23925
4
Spironolactone Approved Phase 4,Phase 2,Phase 1,Not Applicable 1952-01-7, 52-01-7 5833
5
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 171596-29-5 110635
6
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 78919-13-8 6443959
7
Epoprostenol Approved Phase 4,Phase 3,Phase 2,Not Applicable 35121-78-9, 61849-14-7 5282411 5280427
8
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81846-19-7 6918140 54786
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,Phase 1 137-58-6 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,Phase 1,Not Applicable 180384-57-0
19 Beraprost Investigational Phase 4,Phase 3,Phase 2 88430-50-6
20 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
22 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Sildenafil Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 171599-83-0
24 Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
26 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
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 Sodium Channel Blockers Phase 4,Phase 3,Phase 1
31 Mineralocorticoids Phase 4,Phase 2,Phase 1,Not Applicable
32 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
33 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
34 Natriuretic Agents Phase 4,Phase 2,Phase 1,Not Applicable
35 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 diuretics Phase 4,Phase 2,Phase 1,Not Applicable
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
38 Mineralocorticoid Receptor Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
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 Chelating Agents Phase 4,Phase 2,Phase 3,Not Applicable
44 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,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 2,Phase 3,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 639)
# 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 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
13 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
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 Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
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 Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
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 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 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
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 Characterization of LV Strain Patterns in Mildly Elevated PCWP and PAH. Completed NCT01800292 Phase 4 sildenafil
42 EXPEDITE: A Study of Remodulin Induction Followed by Orenitram Optimization to Treat Pulmonary Arterial Hypertension Recruiting NCT03497689 Phase 4 Intravenous/Subcutaneous Treprostinil; Oral Treprostinil
43 Effect of Selexipag on Daily Life Physical Activity of Patients With Pulmonary Arterial Hypertension. Recruiting NCT03078907 Phase 4 Selexipag;Placebo
44 A Study to Investigate the Efficacy of PADN to Improved Functional Capacity and Hemodynamics in Patients With PAH Recruiting NCT02284737 Phase 4 Sildenafil
45 Upfront Combination Pulmonary Arterial Hypertension Therapy Recruiting NCT03809156 Phase 4 Riociguat Oral Product
46 Riociguat rEplacing PDE-5i Therapy evaLuated Against Continued PDE-5i thErapy Recruiting NCT02891850 Phase 4 Adempas (Riociguat, BAY63-2521);Sildenafil;Tadalafil
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 Pulmonary Hypertension, Primary, 1

Genetic Tests for Pulmonary Hypertension, Primary, 1

Genetic tests related to Pulmonary Hypertension, Primary, 1:

# Genetic test Affiliating Genes
1 Pulmonary Arterial Hypertension 30

Anatomical Context for Pulmonary Hypertension, Primary, 1

MalaCards organs/tissues related to Pulmonary Hypertension, Primary, 1:

42
Heart, Endothelial, Testes, Smooth Muscle, Bone, Lung, Kidney

Publications for Pulmonary Hypertension, Primary, 1

Articles related to Pulmonary Hypertension, Primary, 1:

(show top 50) (show all 3802)
# Title Authors Year
1
The improvement of pulmonary artery pressure after bosentan therapy in patients with β-thalassemia and Doppler-defined pulmonary arterial hypertension. ( 30588128 )
2019
2
Elevated levels of platelet- and red cell-derived extracellular vesicles in transfusion-dependent β-thalassemia/HbE patients with pulmonary arterial hypertension. ( 30334069 )
2019
3
Pathophysiology, incidence, management, and consequences of cardiac arrhythmia in pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension. ( 30747032 )
2019
4
Growing number of incident pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension patients in Latvia: a shifting epidemiological landscape? Data from a national pulmonary hypertension registry. ( 30279036 )
2019
5
Successful Transition from Phosphodiesterase-5 Inhibitors to Riociguat Without a Washout Period in Patients With Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: A Pilot Cohort Study. ( 30773322 )
2019
6
Everyday life experiences of spouses of patients who suffer from pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension. ( 30815471 )
2019
7
Risk Assessment in Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension. ( 30923187 )
2019
8
Pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension incidence in Latvia in 2018. ( 31101467 )
2019
9
Health-related quality of life, treatment adherence and psychosocial support in patients with pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension. ( 30011997 )
2019
10
Chinese herbal medicine Qing-Dai-induced pulmonary arterial hypertension in a patient with ulcerative colitis: A case report and experimental investigation. ( 30815357 )
2019
11
Dendritic Cell Subsets and Effector Function in Idiopathic and Connective Tissue Disease-Associated Pulmonary Arterial Hypertension. ( 30723471 )
2019
12
Right atrial function for the prediction of prognosis in connective tissue disease-associated pulmonary arterial hypertension: a study with two-dimensional speckle tracking. ( 31037473 )
2019
13
What is the position of pulmonary arterial hypertension-specific drug therapy in patients with Eisenmenger syndrome: A systematic review and meta-analysis. ( 31096477 )
2019
14
Effects of oxygen therapy in a pediatric normoxemic patient with pulmonary arterial hypertension and congenital heart disease. ( 30942130 )
2019
15
Peripartum outcomes in a large population of women with pulmonary arterial hypertension associated with congenital heart disease. ( 30971116 )
2019
16
Reverse Remodeling of Pulmonary Arterioles After Pulmonary Artery Banding in Patients ≥ 2 Years Old with Severe Pulmonary Arterial Hypertension and Congenital Heart Disease. ( 30982075 )
2019
17
EXPRESS: High-risk pregnancy in a patient with pulmonary arterial hypertension due to congenital heart disease (PAH-CHD) with temporary shunt inversion and deoxygenation. ( 30767601 )
2019
18
Pregnancy still contraindicated in pulmonary arterial hypertension related to congenital heart disease: True or false? ( 30717604 )
2019
19
Predictive value of P-wave and QT interval dispersion in children with congenital heart disease and pulmonary arterial hypertension for the occurrence of arrhythmias. ( 30618481 )
2019
20
Selexipag treatment for pulmonary arterial hypertension associated with congenital heart disease after defect correction: insights from the randomised controlled GRIPHON study. ( 30632656 )
2019
21
Prognostic value of multiple repeated biomarkers in pulmonary arterial hypertension associated with congenital heart disease. ( 30520544 )
2019
22
How to evaluate patients with congenital heart disease-related pulmonary arterial hypertension. ( 30457398 )
2019
23
Phosphodiesterase type 5 inhibitors improve microvascular dysfunction markers in pulmonary arterial hypertension associated with congenital heart disease. ( 30343508 )
2019
24
Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. ( 30260738 )
2019
25
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension. ( 30679663 )
2019
26
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension. ( 30894412 )
2019
27
miR-27a promotes endothelial-mesenchymal transition in hypoxia-induced pulmonary arterial hypertension by suppressing BMP signaling. ( 31004656 )
2019
28
Silibinin efficacy in a rat model of pulmonary arterial hypertension using monocrotaline and chronic hypoxia. ( 31023308 )
2019
29
Berberine attenuates hypoxia-induced pulmonary arterial hypertension via bone morphogenetic protein and transforming growth factor-β signaling. ( 30786011 )
2019
30
Pulmonary Arterial Hypertension in ALK Receptor Tyrosine Kinase-Positive Lung Cancer Patient: Adverse Event or Disease Spread? ( 30683298 )
2019
31
Successful Management of Pulmonary Arterial Hypertension by Monitoring N-Terminal Pro-B-Type Natriuretic Peptide Serum Levels in a Preterm Infant with Chronic Lung Disease: A Case Report. ( 30972228 )
2019
32
Incidence and survival impact of pulmonary arterial hypertension among patients with systemic lupus erythematosus: a nationwide cohort study. ( 30917868 )
2019
33
Pulmonary arterial hypertension in systemic lupus erythematosus based on a CSTAR-PAH study: Baseline characteristics and risk factors. ( 30746850 )
2019
34
Uveal effusion and transient myopia as the initial presentation of systemic lupus erythematosus patient with pulmonary arterial hypertension: case report. ( 30791856 )
2019
35
Long-term prognosis of patients with systemic lupus erythematosus-associated pulmonary arterial hypertension: CSTAR-PAH cohort study. ( 30635295 )
2019
36
Nailfold capillaroscopy as a risk factor for pulmonary arterial hypertension in systemic lupus erythematosus patients. ( 30657102 )
2019
37
Two distinct clinical phenotypes of pulmonary arterial hypertension secondary to systemic lupus erythematosus. ( 30232194 )
2019
38
Intravascular B-cell lymphoma: case report of a rare cause of pulmonary arterial hypertension. ( 31020226 )
2019
39
Pulmonary arterial hypertension associated with interferon-beta treatment for multiple sclerosis. Case report and literature review. ( 30639829 )
2019
40
Pulmonary arterial hypertension in patient treated for multiple sclerosis with 4-aminopyridine. ( 29956855 )
2019
41
The multiple systemic artery to pulmonary artery fistulas resulting in severe irreversible pulmonary arterial hypertension in patient with previous history of pneumothorax. ( 30991994 )
2019
42
Pulmonary edema following initiation of a parenteral prostacyclin therapy for pulmonary arterial hypertension: a retrospective study. ( 30776364 )
2019
43
Chrysin ameliorates ANTU-induced pulmonary edema and pulmonary arterial hypertension via modulation of VEGF and eNOs. ( 30974023 )
2019
44
Improvement of pulmonary arterial hypertension, inflammatory response, and epithelium injury by dual activation of cAMP/cGMP pathway in a rat model of monocrotaline-induced pulmonary hypertension. ( 30835622 )
2019
45
Overexpressed long noncoding RNA CPS1-IT alleviates pulmonary arterial hypertension in obstructive sleep apnea by reducing interleukin-1β expression via HIF1 transcriptional activity. ( 30982984 )
2019
46
Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1. ( 30997327 )
2019
47
A novel, rapid and sensitive UPLC-MS/MS method for the determination of macitentan in patients with pulmonary arterial hypertension. ( 30725476 )
2019
48
Predicting Survival in Patients With Pulmonary Arterial Hypertension: The REVEAL Risk Score Calculator 2.0 and Comparison With ESC/ERS-Based Risk Assessment Strategies. ( 30772387 )
2019
49
Inhibition of CHK1 (Checkpoint Kinase 1) Elicits Therapeutic Effects in Pulmonary Arterial Hypertension. ( 31092016 )
2019
50
Expert Council resolution on pulmonary arterial hypertension (PAH) "Changing the paradigm of treating patients with pulmonary arterial hypertension". ( 31094469 )
2019

Variations for Pulmonary Hypertension, Primary, 1

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Hypertension, Primary, 1:

76 (show all 19)
# Symbol AA change Variation ID SNP ID
1 BMPR2 p.Cys60Tyr VAR_013670 rs108530717
2 BMPR2 p.Cys117Tyr VAR_013671 rs108530721
3 BMPR2 p.Cys118Trp VAR_013672 rs137852743
4 BMPR2 p.Cys123Arg VAR_013673 rs137852750
5 BMPR2 p.Cys123Ser VAR_013674 rs137852750
6 BMPR2 p.Cys347Tyr VAR_013676 rs137852744
7 BMPR2 p.Cys420Arg VAR_013677 rs108530732
8 BMPR2 p.Cys483Arg VAR_013678 rs108530735
9 BMPR2 p.Asp485Gly VAR_013679 rs137852745
10 BMPR2 p.Arg491Gln VAR_013680 rs137852749
11 BMPR2 p.Arg491Trp VAR_013681 rs137852746
12 BMPR2 p.Lys512Thr VAR_013682 rs108530736
13 BMPR2 p.Asn519Lys VAR_013683 rs108530736
14 BMPR2 p.Gln82His VAR_033109 rs108530718
15 BMPR2 p.Gly182Asp VAR_033110 rs137852754
16 BMPR2 p.Arg899Pro VAR_033111 rs137852752
17 BMPR2 p.Tyr67Cys VAR_073041 rs108530717
18 BMPR2 p.Ser863Asn VAR_073042 rs100624655
19 BMPR2 p.Cys84Phe VAR_079590 rs108530719

ClinVar genetic disease variations for Pulmonary Hypertension, Primary, 1:

6 (show top 50) (show all 1315)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh37 Chromosome 2, 203421083: 203421083
2 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh38 Chromosome 2, 202556360: 202556360
3 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh37 Chromosome 2, 203329673: 203329673
4 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh38 Chromosome 2, 202464950: 202464950
5 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh37 Chromosome 2, 203332348: 203332348
6 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh38 Chromosome 2, 202467625: 202467625
7 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh37 Chromosome 2, 203395589: 203395589
8 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh38 Chromosome 2, 202530866: 202530866
9 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh37 Chromosome 2, 203417479: 203417479
10 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh38 Chromosome 2, 202552756: 202552756
11 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh37 Chromosome 2, 203417496: 203417496
12 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh38 Chromosome 2, 202552773: 202552773
13 BMPR2 BMPR2, 5-BP DEL, NT1099 deletion Pathogenic
14 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh37 Chromosome 2, 203378530: 203378530
15 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh38 Chromosome 2, 202513807: 202513807
16 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh37 Chromosome 2, 203421005: 203421005
17 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh38 Chromosome 2, 202556282: 202556282
18 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh37 Chromosome 2, 203417497: 203417497
19 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh38 Chromosome 2, 202552774: 202552774
20 BMPR2 BMPR2, 2-BP DEL, 1-BP INS, NT690 indel Pathogenic
21 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
22 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
23 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
24 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
25 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh37 Chromosome 2, 203395543: 203395543
26 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh38 Chromosome 2, 202530820: 202530820
27 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh37 Chromosome 2, 203421084: 203421084
28 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh38 Chromosome 2, 202556361: 202556361
29 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh37 Chromosome 2, 203383554: 203383554
30 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh38 Chromosome 2, 202518831: 202518831
31 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh37 Chromosome 2, 203242241: 203242241
32 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh38 Chromosome 2, 202377518: 202377518
33 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203329702
34 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh38 Chromosome 2, 202464809: 202464979
35 BMPR2 BMPR2, EX10DEL deletion Pathogenic
36 BMPR2 BMPR2, EX1-13DEL deletion Pathogenic
37 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh37 Chromosome 2, 203407054: 203407054
38 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh38 Chromosome 2, 202542331: 202542331
39 SMAD1 NM_005900.2(SMAD1): c.8T> C (p.Val3Ala) single nucleotide variant Uncertain significance rs587777018 GRCh37 Chromosome 4, 146435773: 146435773
40 SMAD1 NM_005900.2(SMAD1): c.8T> C (p.Val3Ala) single nucleotide variant Uncertain significance rs587777018 GRCh38 Chromosome 4, 145514621: 145514621
41 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh37 Chromosome 2, 26950859: 26950859
42 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh38 Chromosome 2, 26727991: 26727991
43 SMAD4 NM_005359.5(SMAD4): c.38A> G (p.Asn13Ser) single nucleotide variant Uncertain significance rs281875323 GRCh37 Chromosome 18, 48573454: 48573454
44 SMAD4 NM_005359.5(SMAD4): c.38A> G (p.Asn13Ser) single nucleotide variant Uncertain significance rs281875323 GRCh38 Chromosome 18, 51047084: 51047084
45 PMS2 NM_000535.5(PMS2): c.1927C> T (p.Gln643Ter) single nucleotide variant Pathogenic rs63751422 GRCh37 Chromosome 7, 6026469: 6026469
46 PMS2 NM_000535.5(PMS2): c.1927C> T (p.Gln643Ter) single nucleotide variant Pathogenic rs63751422 GRCh38 Chromosome 7, 5986838: 5986838
47 BMPR2 NM_001204.6(BMPR2): c.2324G> A (p.Ser775Asn) single nucleotide variant Benign/Likely benign rs2228545 GRCh37 Chromosome 2, 203420712: 203420712
48 BMPR2 NM_001204.6(BMPR2): c.2324G> A (p.Ser775Asn) single nucleotide variant Benign/Likely benign rs2228545 GRCh38 Chromosome 2, 202555989: 202555989
49 BMPR2 NM_001204.6(BMPR2): c.2811G> A (p.Arg937=) single nucleotide variant Benign rs1061157 GRCh37 Chromosome 2, 203421199: 203421199
50 BMPR2 NM_001204.6(BMPR2): c.2811G> A (p.Arg937=) single nucleotide variant Benign rs1061157 GRCh38 Chromosome 2, 202556476: 202556476

Copy number variations for Pulmonary Hypertension, Primary, 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 262570 X 37500000 47300000 Microdeletion idiopathic pulmonary hypertension
2 264430 2 202949294 203140719 Deletion BMPR2 Pulmonary arterial hypertension

Expression for Pulmonary Hypertension, Primary, 1

Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 1.

Pathways for Pulmonary Hypertension, Primary, 1

Pathways related to Pulmonary Hypertension, Primary, 1 according to KEGG:

38
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Pulmonary Hypertension, Primary, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.69 BMP6 BMPR2 ENG
2
Show member pathways
11.33 EDN1 NPPA NPPB
3
Show member pathways
10.59 ACVRL1 BMPR2
4 10.14 BMPR2 NPPA NPPB

GO Terms for Pulmonary Hypertension, Primary, 1

Cellular components related to Pulmonary Hypertension, Primary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 ABCA3 BMP6 BMPR2 EDN1 ENG MIR204

Biological processes related to Pulmonary Hypertension, Primary, 1 according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.84 EDN1 KCNK3 MALAT1
2 regulation of signaling receptor activity GO:0010469 9.81 BMP6 EDN1 NPPA NPPB
3 response to hypoxia GO:0001666 9.8 ACVRL1 EDN1 NPPA SLC6A4
4 cellular response to mechanical stimulus GO:0071260 9.76 BMP6 ENG NPPA
5 positive regulation of endothelial cell proliferation GO:0001938 9.71 ACVRL1 BMP6 BMPR2
6 negative regulation of cell growth GO:0030308 9.71 ACVRL1 BMPR2 NPPA NPPB
7 blood vessel remodeling GO:0001974 9.69 ACVRL1 BMPR2
8 blood vessel morphogenesis GO:0048514 9.68 ACVRL1 EDN1
9 branching involved in blood vessel morphogenesis GO:0001569 9.68 EDN1 ENG
10 outflow tract septum morphogenesis GO:0003148 9.68 BMPR2 ENG
11 positive regulation of heart rate GO:0010460 9.68 EDN1 NPPA
12 positive regulation of chondrocyte differentiation GO:0032332 9.67 ACVRL1 BMP6
13 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.67 ACVRL1 BMPR2
14 positive regulation of endothelial cell differentiation GO:0045603 9.67 ACVRL1 BMP6
15 BMP signaling pathway GO:0030509 9.67 ACVRL1 BMP6 BMPR2 ENG
16 activin receptor signaling pathway GO:0032924 9.66 ACVRL1 BMPR2
17 endocardial cushion morphogenesis GO:0003203 9.65 ACVRL1 ENG
18 vasoconstriction GO:0042310 9.65 EDN1 SLC6A4
19 response to muscle stretch GO:0035994 9.65 EDN1 NPPA
20 positive regulation of renal sodium excretion GO:0035815 9.64 EDN1 NPPB
21 positive regulation of urine volume GO:0035810 9.64 EDN1 NPPB
22 endocardial cushion development GO:0003197 9.63 BMPR2 FOXF1
23 negative regulation of DNA biosynthetic process GO:2000279 9.63 ACVRL1 BMPR2
24 cellular response to BMP stimulus GO:0071773 9.63 ACVRL1 BMP6 BMPR2
25 lymphangiogenesis GO:0001946 9.62 ACVRL1 BMPR2
26 response to transforming growth factor beta GO:0071559 9.61 EDN1 ENG
27 cGMP biosynthetic process GO:0006182 9.61 NPPA NPPB
28 positive regulation of BMP signaling pathway GO:0030513 9.61 ACVRL1 BMPR2 ENG
29 negative regulation of systemic arterial blood pressure GO:0003085 9.6 BMPR2 NPPA
30 receptor guanylyl cyclase signaling pathway GO:0007168 9.59 NPPA NPPB
31 body fluid secretion GO:0007589 9.58 EDN1 NPPB
32 artery development GO:0060840 9.57 ACVRL1 BMPR2
33 dorsal aorta morphogenesis GO:0035912 9.56 ACVRL1 ENG
34 regulation of blood pressure GO:0008217 9.56 ACVRL1 EDN1 NPPA NPPB
35 retina vasculature development in camera-type eye GO:0061298 9.55 ACVRL1 BMPR2
36 lymphatic endothelial cell differentiation GO:0060836 9.52 ACVRL1 BMPR2
37 regulation of blood vessel size GO:0050880 9.5 EDN1 NPPA NPPB
38 endocardial cushion to mesenchymal transition GO:0090500 9.48 ACVRL1 ENG
39 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.46 ACVRL1 BMP6 BMPR2 ENG
40 response to drug GO:0042493 9.43 ABCA3 EDN1 ENG KCNK3 PMS2 SLC6A4
41 venous blood vessel development GO:0060841 8.8 ACVRL1 BMPR2 FOXF1
42 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 ACVRL1 BMP6 BMPR2 EDN1 ENG FOXF1

Molecular functions related to Pulmonary Hypertension, Primary, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.54 EDN1 NPPA NPPB
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 9.32 ACVRL1 ENG
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 ACVRL1 BMPR2
6 BMP binding GO:0036122 9.16 BMPR2 ENG
7 BMP receptor activity GO:0098821 8.96 ACVRL1 BMPR2
8 hormone receptor binding GO:0051427 8.62 NPPA NPPB

Sources for Pulmonary Hypertension, Primary, 1

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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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