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PPH1
MCID: PLM164
MIFTS: 75

Pulmonary Hypertension, Primary, 1 (PPH1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pulmonary Hypertension, Primary, 1

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MalaCards integrated aliases for Pulmonary Hypertension, Primary, 1:

Name: Pulmonary Hypertension, Primary, 1 56 73
Pulmonary Arterial Hypertension 56 52 25 58 36 29 6 17 71
Primary Pulmonary Hypertension 52 25 36 29 54 6 32
Pah 56 52 25 58
Idiopathic Pulmonary Arterial Hypertension 52 58 71
Idiopathic Pulmonary Hypertension 52 25 71
Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 56 29
Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 56 29
Familial Primary Pulmonary Hypertension 25 71
Sporadic Primary Pulmonary Hypertension 25 71
Pph1 56 73
Pph 52 25
Hereditary Pulmonary Arterial Hypertension 52
Heritable Pulmonary Arterial Hypertension 52
Familial Pulmonary Arterial Hypertension 52
Pulmonary Hypertension, Familial Primary 13
Hypertension, Pulmonary, Primary, Type 1 39
Primary Pulmonary Arterial Hypertension 58
Pulmonary Arterial Hypertension; Pah 56
Ayerza's Syndrome 71
Ayerza Syndrome 25
Fpah 52
Fpph 25
Ppht 25
Ipah 58
Pht 56

Characteristics:

Orphanet epidemiological data:

58
pulmonary arterial hypertension
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Spain),1-9/1000000 (Spain),1-9/100000 (France),1-9/1000000 (France),1-9/100000 (United States),1-9/100000 (Czech Republic),1-9/100000 (Switzerland),1-9/1000000 (Switzerland),1-9/1000000 (United Kingdom),1-9/100000 (United Kingdom); Age of onset: All ages; Age of death: any age;
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:

56
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

Inheritance:
autosomal dominant


HPO:

31
pulmonary hypertension, primary, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare respiratory diseases


Sources

Summaries for Pulmonary Hypertension, Primary, 1

About this section
Genetics Home Reference : 25 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. Signs and symptoms of pulmonary arterial hypertension occur when increased blood pressure cannot fully overcome the elevated resistance. As a result, the flow of oxygenated blood from the lungs to the rest of the body is insufficient. Shortness of breath (dyspnea) during exertion and fainting spells are the most common symptoms of pulmonary arterial hypertension. People with this disorder may experience additional symptoms, particularly as the condition worsens. Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest pain, and a rapid heart rate.

MalaCards based summary : Pulmonary Hypertension, Primary, 1, also known as pulmonary arterial hypertension, is related to pulmonary arterial hypertension associated with congenital heart disease and juvenile polyposis 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 Furosemide and Tadalafil have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related phenotypes are dyspnea and pulmonary arterial hypertension

NIH Rare Diseases : 52 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 .

OMIM : 56 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)

KEGG : 36 Primary pulmonary hypertension (PPH) is a progressive disease characterised by raised pulmonary vascular resistance, which results in diminished right-heart function due to increased right ventricular afterload. PPH occurs most commonly in young and middle-aged women; mean survival from onset of symptoms is 2-3 years. Mutations in the type II bone morphogenetic protein (BMP) receptor (BMPR)-II are now considered to be the genetic basis for familial PPH and ~30% of cases of sporadic PPH. BMPs are members of the transforming growth factor beta superfamily and affect intracellular signalling via Smads and mitogen-activated protein kinases. It has been shown that missense mutations of cysteine residues in the extracellular or kinase domain of BMPR2 result in intracellular localisation of the mutated receptor and negligible Smad signalling.

UniProtKB/Swiss-Prot : 73 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.

Sources

Related Diseases for Pulmonary Hypertension, Primary, 1

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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 Rare Pulmonary Hypertension

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

(show top 50) (show all 788)
# Related Disease Score Top Affiliating Genes
1 pulmonary arterial hypertension associated with congenital heart disease 34.5 ENG BMPR2
2 juvenile polyposis syndrome 32.3 PMS2 BMPR2 ACVRL1
3 pulmonary venoocclusive disease 32.1 NPPB KCNK3 BMPR2 ACVRL1
4 eisenmenger syndrome 31.4 EDN1 BMPR2
5 tricuspid valve insufficiency 30.7 NPPB EDN1 BMPR2
6 pulmonary arteriovenous malformation 30.7 ENG ACVRL1
7 telangiectasis 30.6 ENG BMPR2 BMP6 ACVRL1
8 hereditary hemorrhagic telangiectasia 30.5 ENG BMPR2 BMP6 ACVRL1
9 scleroderma, familial progressive 30.4 EDN1 BMP6
10 interstitial lung disease 30.4 NPPB EDN1 ABCA3
11 pulmonary fibrosis 30.4 EDN1 BMP6 ABCA3
12 heritable pulmonary arterial hypertension 30.3 KCNK3 ENG BMPR2 ACVRL1
13 arteriovenous malformation 30.3 ENG EDN1 BMPR2 ACVRL1
14 atrial heart septal defect 30.2 RPL5 NPPB EDN1 BMPR2
15 right bundle branch block 29.9 NPPB BMPR2
16 pulmonary valve insufficiency 29.9 NPPB EDN1 BMPR2
17 respiratory failure 29.9 PMS2 NPPB EDN1 ABCA3
18 chronic thromboembolic pulmonary hypertension 29.8 NPPB EDN1 BMPR2
19 heart disease 29.6 SLC6A4 NPPB ENG EDN1 BMPR2
20 hepatopulmonary syndrome 29.6 ENG EDN1 BMPR2 ACVRL1
21 sleep apnea 29.6 SLC6A4 NPPB EDN1
22 central sleep apnea 29.6 NPPB KCNK3
23 connective tissue disease 29.5 MIR204 EDN1 BMPR2 BMP6 ACVRL1
24 lung disease 29.3 NPPB EDN1 BMP6 ABCA3
25 angina pectoris 29.0 NPPB EDN1
26 chronic pulmonary heart disease 28.4 SLC6A4 NPPB EDN1 BMPR2 ACVRL1
27 hypertension, essential 28.2 NPPB KCNK3 ENG EDN1 BMPR2
28 pulmonary hypertension 27.9 SLC6A4 NPPB KCNK3 ENG EDN1 BMPR2
29 vascular disease 27.7 SLC6A4 NPPB ENG EDN1 BMPR2 BMP6
30 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 12.8
31 phenylketonuria 12.7
32 pulmonary arterial hypertension associated with portal hypertension 12.6
33 pulmonary arterial hypertension associated with another disease 12.6
34 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.6
35 pulmonary arterial hypertension associated with hiv infection 12.6
36 drug- or toxin-induced pulmonary arterial hypertension 12.6
37 pulmonary arterial hypertension associated with schistosomiasis 12.5
38 pulmonary arterial hypertension associated with chronic hemolytic anemia 12.5
39 cowden syndrome 1 12.3
40 neutropenia, severe congenital, 4, autosomal recessive 12.2
41 lymphedema and cerebral arteriovenous anomaly 12.1
42 hyperphenylalaninemia, bh4-deficient, a 11.9
43 hyperphenylalaninemia 11.8
44 pulmonary venoocclusive disease 1, autosomal dominant 11.7
45 mild hyperphenylalaninemia 11.7
46 schizophrenia 11.6
47 classic phenylketonuria 11.6
48 psychotic disorder 11.6
49 inherited metabolic disorder 11.4
50 abdominal obesity-metabolic syndrome 1 11.4

Comorbidity relations with Pulmonary Hypertension, Primary, 1 via Phenotypic Disease Network (PDN): (show all 35)


Active Peptic Ulcer Disease Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Anxiety Aortic Valve Disease 1
Bronchitis Cardiac Arrest
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 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
Sources

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 1

About this section

Human phenotypes related to Pulmonary Hypertension, Primary, 1:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 58 31 frequent (33%) Very frequent (99-80%),Obligate (100%) HP:0002094
2 pulmonary arterial hypertension 58 31 very rare (1%) Very frequent (99-80%) HP:0002092
3 chest pain 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
4 right ventricular hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001667
5 increased pulmonary vascular resistance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005317
6 right ventricular failure 31 hallmark (90%) HP:0001708
7 elevated right atrial pressure 31 hallmark (90%) HP:0005168
8 abnormal jugular vein morphology 31 hallmark (90%) HP:3000042
9 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
10 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
11 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001635
12 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
13 pedal edema 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0010741
14 syncope 58 31 frequent (33%) Frequent (79-30%) HP:0001279
15 tricuspid regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0005180
16 edema of the dorsum of feet 58 31 frequent (33%) Frequent (79-30%) HP:0012098
17 heart murmur 58 31 frequent (33%) Frequent (79-30%) HP:0030148
18 palpitations 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001962
19 ankle swelling 58 31 frequent (33%) Frequent (79-30%) HP:0001785
20 abnormal thrombosis 31 frequent (33%) HP:0001977
21 pulmonary arterial medial hypertrophy 31 frequent (33%) HP:0004964
22 pulmonary artery vasoconstriction 31 frequent (33%) HP:0005308
23 pulmonary aterial intimal fibrosis 31 frequent (33%) HP:0005312
24 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
25 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
26 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
27 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
28 hemoptysis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002105
29 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
30 abnormal tricuspid valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001702
31 hypertension 31 HP:0000822
32 telangiectasia 31 HP:0001009
33 abnormality of connective tissue 58 Excluded (0%)
34 elevated pulmonary artery pressure 58 Very frequent (99-80%)
35 abnormality of jugular vein 58 Very frequent (99-80%)
36 chronic hemolytic anemia 58 Excluded (0%)
37 arterial intimal fibrosis 31 HP:0011353

Symptoms via clinical synopsis from OMIM:

56
Respiratory Lung:
dyspnea
pulmonary function tests may show restrictive pattern

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

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

Hematology:
thrombosis

Clinical features from OMIM:

178600

UMLS symptoms related to Pulmonary Hypertension, Primary, 1:


dyspnea
Sources

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 1

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Drugs for Pulmonary Hypertension, Primary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 317)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
2
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
3
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
4
Clevidipine Approved, Investigational Phase 4 167221-71-8
5
Riociguat Approved Phase 4 625115-55-1
6
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
7
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
8
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
9
Epoprostenol Approved Phase 4 35121-78-9, 61849-14-7 5282411 5280427
10
Macitentan Approved Phase 4 441798-33-0
11
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
12 Beraprost Investigational Phase 4 88430-50-6
13 Tezosentan Investigational Phase 4 180384-57-0
14 Vardenafil Dihydrochloride Phase 4
15 Sodium Potassium Chloride Symporter Inhibitors Phase 4
16 Angiotensin II Type 1 Receptor Blockers Phase 4
17 Angiotensinogen Phase 4
18 Angiotensin Receptor Antagonists Phase 4
19 LCZ 696 Phase 4
20 Giapreza Phase 4
21 Hormone Antagonists Phase 4
22 Mineralocorticoids Phase 4
23 Mineralocorticoid Receptor Antagonists Phase 4
24 diuretics Phase 4
25 Endothelin A Receptor Antagonists Phase 4
26 Chelating Agents Phase 4
27 Anticoagulants Phase 4
28 Liver Extracts Phase 4
29 Anti-Arrhythmia Agents Phase 4
30 Natriuretic Peptide, Brain Phase 4
31 Diuretics, Potassium Sparing Phase 4
32 Sodium Channel Blockers Phase 4
33 Anesthetics Phase 4
34 Anesthetics, Local Phase 4
35
Udenafil Approved, Investigational Phase 2, Phase 3 268203-93-6 6918523
36
Ranolazine Approved, Investigational Phase 3 142387-99-3, 95635-55-5 56959
37
Trimetazidine Approved, Investigational Phase 2, Phase 3 5011-34-7
38
Iodine Approved, Investigational Phase 3 7553-56-2 807
39
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
40
tannic acid Approved Phase 3 1401-55-4
41
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
42
Ambrisentan Approved, Investigational Phase 2, Phase 3 177036-94-1 6918493
43
Selexipag Approved Phase 3 475086-01-2
44
Nitric Oxide Approved Phase 3 10102-43-9 145068
45 Lipid Regulating Agents Phase 3
46 Hypolipidemic Agents Phase 3
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
48 Anticholesteremic Agents Phase 3
49 Rosuvastatin Calcium Phase 3 147098-20-2
50 Hypoglycemic Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 699)
# Name Status NCT ID Phase Drugs
1 Intravenous Iron Treatment In Iron Deficient Patients With Idiopathic Pulmonary Arterial Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
2 Raising the Bars in the Treatment of Pulmonary Arterial Hypertension: Goal Oriented Strategy to Preserve Ejection Fraction Trial Unknown status NCT03236818 Phase 4 ERA and PDE-5I (Sildenafil, Tadalafil, Bosentan, Macitentan)
3 Hemodynamic Evaluation of Patients With Pulmonary Arterial Hypertension. Response to Sildenafil Treatment Unknown status NCT00483626 Phase 4 oral sildenafil
4 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease Unknown status NCT01116063 Phase 4 Inhaled iloprost
5 Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
6 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
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 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
9 Comparing a Diuretic Vascular Filling in the Initial Management of Acute Pulmonary Embolism With Right Ventricular Dysfunction Normotensive Unknown status NCT02531581 Phase 4 Furosemide;NaCl 9% isotonic
10 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
11 Effect of Endothelin Receptor Blocker Tracleer on Toruniquet-associated Hypertension During Total Knee Arthroplasty Unknown status NCT03229694 Phase 4 Tracleer 125Mg Tablet;Placebo
12 An Open-label Extension of Study AC-066A401 Investigating the Safety and Tolerability of ACT-385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
13 TRUST-2: An Open-label Continuation Trial of the Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
14 A Phase IV, Open-label, Randomized, Multicenter Study of the Safety, Tolerability,and Pharmacokinetics of ACT- 385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
15 Open Label, Non Comparative Study to Investigate the Effect of Bosentan on Pulmonary Artery Remodelling in Pulmonary Arterial Hypertension (PAH). Completed NCT00595049 Phase 4 bosentan
16 An Open Label, Multi-center Study Evaluating the Safety of Long-term Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis® (Iloprost) in Subjects With Pulmonary Arterial Hypertension. Completed NCT00741819 Phase 4 Inhaled treprostinil
17 A Multinational, Multicentre, Randomized, Double-blind Study To Assess The Efficacy And Safety Of Oral Sildenafil 20mg Tid Or Placebo When Added To Bosentan In The Treatment Of Subjects, Aged 18 Years And Above, With Pulmonary Arterial Hypertension (Pah) Completed NCT00323297 Phase 4 Bosentan;Bosentan;Sildenafil Citrate
18 An Open-Label Uncontrolled Study of the Safety and Efficacy of Ambrisentan in Patients With Exercise Induced Pulmonary Arterial Hypertension Completed NCT01338636 Phase 4 Ambrisentan
19 A Prospective, Randomized, International, Multicenter, Double-arm, Controlled, Open-label Study of Riociguat in Patients With Pulmonary Arterial Hypertension (PAH) Who Are on a Stable Dose of Phosphodiesterase-5 Inhibitors (PDE-5i) With or Without Endothelin Receptor Antagonist (ERA), But Not at Treatment Goal Completed NCT02891850 Phase 4 Adempas (Riociguat, BAY63-2521);Sildenafil;Tadalafil
20 A 16 Week, Open Label, Multi-centre, Study to Evaluate the Safety, Tolerability and Pharmacodynamic Effects of a Rapid Dose Titration Regimen of Subcutaneous Remodulin® Therapy in Subjects With Pulmonary Arterial Hypertension (PAH) Completed NCT02847260 Phase 4 Remodulin
21 COMPASS 3: An Open-label, Multi-Center Study Employing a Targeted 6-Minute Walk Test (6-MWT) Distance Threshold Approach to Guide Bosentan-Based Therapy and to Assess the Utility of Magnetic Resonance Imaging (MRI) on Cardiac Remodeling Completed NCT00433329 Phase 4 Bosentan;Sildenafil
22 A Phase 3, Multi-center, Open-label Study To Investigate Safety, Efficacy, And Tolerability Of Sildenafil Citrate In Pediatric Patients With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
23 A Multi-center, Double-blind, Placebo-controlled Phase 4 Study in Patients With Pulmonary Arterial Hypertension to Assess the Effect of Selexipag on Daily Life Physical Activity and Patient's Self-reported Symptoms and Their Impacts Completed NCT03078907 Phase 4 Selexipag;Placebo
24 TRACLEER® (Bosentan) Pulmonary Arterial Hypertension A Multicenter, Open-label, Single-arm Safety Study to Investigate the Effects of Chronic TRACLEER® Treatment on Testicular Function in Male Patients With Pulmonary Arterial Hypertension Completed NCT00082186 Phase 4 bosentan
25 An Open-label, Multicenter Study of Ambrisentan and a Phosphodiesterase Type-5 Inhibitor Combination Therapy in Subjects With Pulmonary Arterial Hypertension Who Have Demonstrated a Sub-Optimal Response to a Phosphodiesterase Type-5 Inhibitor Completed NCT00617305 Phase 4 Ambrisentan;Placebo;Sildenafil;Tadalafil
26 A Multi-center, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effects of Tracleer (Bosentan) on Oxygen Saturation and Cardiac Hemodynamics in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
27 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
28 A Prospective, Multicenter, Single-arm, Open-label, Phase 4 Study to Evaluate the Effects of Macitentan on Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Assessed by Cardiac Magnetic Resonance Imaging Completed NCT02310672 Phase 4 Macitentan
29 Effects of Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Morbidity and Mortality in Symptomatic Patients With Pulmonary Arterial Hypertension - A Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel Group, Prospective, Event Driven Phase IV Study Completed NCT00303459 Phase 4 bosentan;placebo
30 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
31 Therapy of Pulmonary Arterial Hypertension (PAH) With Bosentan in Patients With Eisenmenger Syndrome Completed NCT00266162 Phase 4 Bosentan administration
32 A Multi-Center, Open-Label Extension Study to Protocol AC-052-405 to Evaluate the Safety and Efficacy of Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
33 An Open Label, Single-arm Study Evaluating a New Thermostable Formulation of FLOLANâ„¢ in Japanese Subjects With Pulmonary Arterial Hypertension (PAH) Completed NCT02705807 Phase 4 FLOLAN injection with currently marketed diluent;FLOLAN injection with reformulated diluent
34 A Multicenter, Randomized, Parallel Placebo-Controlled Study of the Safety and Efficacy of Subcutaneous Remodulin® Therapy After Transition From Flolan® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
35 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
36 A Single-arm, Open Label Study Evaluating the Impact on Lifestyle of a New Thermo Stable Formulation of FLOLAN® in Subjects With Pulmonary Arterial Hypertension (PAH). (FLOLAN® is a Registered Trademark of the GlaxoSmithKline Group of Companies.) Completed NCT01462565 Phase 4 current marketed FLOLAN (epoprostenol sodium);new thermo stable formulation of epoprostenol sodium
37 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study Completed NCT01051960 Phase 4 Ambrisentan
38 A Phase IV, Prospective, Single-Arm, Open-Label Study to Measure Outcomes in Patients With Pulmonary Arterial Hypertension Not on Active Treatment Completed NCT02191137 Phase 4 Riociguat (Adempas, BAY63-2521)
39 Inhaled Iloprost for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
40 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) in Patients With Stable Pulmonary Arterial Hypertension: Safety, Efficacy and Treatment Satisfaction Completed NCT00373360 Phase 4 treprostinil sodium
41 Transition From Parenteral Prostanoids to Inhaled Treprostinil Completed NCT01268553 Phase 4 Treprostinil
42 Clevidipine for Vasoreactivity Evaluation of the Pulmonary Arterial Bed (CARVE) Completed NCT01121458 Phase 4 Clevidipine
43 The Effect of Riociguat on Gas Exchange, Exercise Performance, and Pulmonary Artery Pressure During Acute Altitude Exposure Completed NCT02024386 Phase 4 Riociguat
44 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Pulmonary Arterial Hypertension Children Associated With Left to Right Shunt Congenital Heart Defect Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
45 Phase IV Study on the Effects of Sildenafil in Combination With Pulmonary Rehabilitation Program on Exercise Tolerance in Patients With COPD and Pulmonary Hypertension Completed NCT01055405 Phase 4 Sildenafil
46 CombinatiON Up-FRON t Therapy for PAH - A Phase 4, Randomized, Multicenter Study of Inhaled Treprostinil in Treatment naïve Pulmonary Arterial Hypertension Patients Starting on Tadalafil Completed NCT01305252 Phase 4 treprostinil inhalations;tadalafil
47 Acute Effects of a Single Dose of Sildenafil (20mg/40mg) on Pulmonary Haemodynamics and Gas Exchange at Rest and During Exercise in COPD Patients With Pulmonary Hypertension Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
48 Single Dose Sildenafil in Heart Failure Patients Improves 6-minute Walk Test by a Reduction in Left Ventricular Filling Pressure Completed NCT00781508 Phase 4 sildenafil
49 Phase IV Study on New Insights in Remodeling of Diabetic Cardiomyopathy: Gender Difference in Intramyocardial, Molecular and Neuroendocrine Assessment in Response to Chronic Inhibition of Cyclic GMP Phosphodiesterase 5A Completed NCT01803828 Phase 4 Tadalafil;Placebo
50 A MULTINATIONAL, MULTICENTER STUDY TO ASSESS THE EFFECTS OF ORAL SILDENAFIL ON MORTALITY IN ADULTS WITH PULMONARY ARTERIAL HYPERTENSION (PAH) Recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 1

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Genetic Tests for Pulmonary Hypertension, Primary, 1

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Genetic tests related to Pulmonary Hypertension, Primary, 1:

# Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension 29 BMPR2
2 Pulmonary Arterial Hypertension 29
3 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 29
4 Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 29
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Anatomical Context for Pulmonary Hypertension, Primary, 1

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

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

Publications for Pulmonary Hypertension, Primary, 1

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Articles related to Pulmonary Hypertension, Primary, 1:

(show top 50) (show all 11720)
# Title Authors PMID Year
1
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 54 56 6 61
12358323 2002
2
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. 6 56 61
16429403 2006
3
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 6 56 54
15965979 2005
4
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 6 56 54
10903931 2000
5
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 6 54 56
10973254 2000
6
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 6 56
11015450 2000
7
Genetic analyses in a cohort of children with pulmonary hypertension. 56 61
27587546 2016
8
SMAD1 deficiency in either endothelial or smooth muscle cells can predispose mice to pulmonary hypertension. 56 61
23478097 2013
9
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 61 56
23502781 2013
10
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 61 56
21920918 2011
11
Notch3 signaling promotes the development of pulmonary arterial hypertension. 56 61
19855400 2009
12
Genetics and genomics of pulmonary arterial hypertension. 56 61
19555857 2009
13
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 56 61
19211612 2009
14
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 61 56
18792970 2008
15
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. 56 61
18496036 2008
16
Moderate pulmonary arterial hypertension in male mice lacking the vasoactive intestinal peptide gene. 61 56
17309917 2007
17
Primary pulmonary hypertension in children may have a different genetic background than in adults. 54 56
15295086 2004
18
Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension. 56 54
14583445 2003
19
Heritable Pulmonary Arterial Hypertension 6 61
20301658 2002
20
Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension. 54 56
11602621 2001
21
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 54 6
11115378 2001
22
Role for miR-204 in human pulmonary arterial hypertension. 46 61
21321078 2011
23
Expression of human herpesvirus 8 in primary pulmonary hypertension. 56
13679525 2003
24
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. 6
12446270 2003
25
Genetic clues to the cause of primary pulmonary hypertension. 56
11484696 2001
26
Primary pulmonary hypertension. 56
9729004 1998
27
Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension. 56
9486960 1998
28
Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32. 56
9193425 1997
29
Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. 56
9054941 1997
30
Primary pulmonary hypertension. 56
8988890 1997
31
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. 56
7599869 1995
32
Familial pulmonary hypertension: immunogenetic findings in four Caucasian kindreds. 56
1554203 1992
33
Primary pulmonary hypertension in a patient with a familial platelet storage pool disease: role of serotonin. 56
2368783 1990
34
Heterogeneity of pathologic lesions in familial primary pulmonary hypertension. 56
3202470 1988
35
The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. 6
3291115 1988
36
Primary pulmonary hypertension. A national prospective study. 56
3605900 1987
37
Familial primary pulmonary hypertension: clinical patterns. 56
6703480 1984
38
Familial primary pulmonary hypertension. 56
4277482 1974
39
Abnormal fibrinolysis in familial pulmonary hypertension. 56
4715931 1973
40
Familial pulmonary hypertension. Evidence of autosomal dominant inheritance. 56
5212347 1970
41
Familial occurrence of primary pulmonary hypertension. 56
5922239 1966
42
The familial occurrence of primary pulmonary hypertension. 56
5926389 1966
43
Familial primary pulmonary hypertension. 56
4283636 1966
44
FAMILIAL PULMONARY HYPERTENSION. 56
14053563 1963
45
The natriuretic peptides and their role in disorders of right heart dysfunction and pulmonary hypertension. 61 54
15369714 2004
46
B-type natriuretic Peptide and the right heart. 54 61
15516857 2004
47
[Pulmonary arterial hypertension]. 54 61
15049592 2004
48
Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation. 54 61
14516151 2003
49
Pulmonary hypertension in scleroderma spectrum of disease: lack of bone morphogenetic protein receptor 2 mutations. 61 54
12415595 2002
50
Genetics of pulmonary hypertension: from bench to bedside. 54 61
12358355 2002
Sources

Variations for Pulmonary Hypertension, Primary, 1

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

6 (show top 50) (show all 871) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.6(BMPR2):c.(76+1_77-1)_(*1_?)deldeletion Pathogenic 425698 2:203242274-203424670 2:202377551-202559947
2 BMPR2 NM_001204.6(BMPR2):c.(418+1_419-1)_(*1_?)deldeletion Pathogenic 425789 2:203332413-203424670 2:202467690-202559947
3 BMPR2 NM_001204.6(BMPR2):c.(1413+1_1414-1)_(*1_?)deldeletion Pathogenic 425942 2:203407171-203424670 2:202542448-202559947
4 BMPR2 NM_001204.6(BMPR2):c.(?_-540)_(76+1_77-1)deldeletion Pathogenic 425669 2:203241658-203329531 2:202376935-202464808
5 BMPR2 NM_001204.6(BMPR2):c.(?_-540)_(*1_?)deldeletion Pathogenic 425670 2:203241658-203424670 2:202376935-202559947
6 BMPR2 NM_001204.6(BMPR2):c.(?_-1)_(76+1_77-1)deldeletion Pathogenic 425671 2:203242197-203329531 2:202377474-202464808
7 BMPR2 NM_001204.6(BMPR2):c.(?_-1)_(418+1_419-1)deldeletion Pathogenic 425672 2:203242197-203378441 2:202377474-202513718
8 BMPR2 NM_001204.6(BMPR2):c.(?_-1)_(529+1_530-1)deldeletion Pathogenic 425673 2:203242197-203379610 2:202377474-202514887
9 BMPR2 NM_001204.6(BMPR2):c.(?_-1)_(1128+1_1129-1)deldeletion Pathogenic 425674 2:203242197-203397307 2:202377474-202532584
10 BMPR2 NM_001204.6(BMPR2):c.(?_-1)_(*1_?)deldeletion Pathogenic 425675 2:203242197-203424670 2:202377474-202559947
11 BMPR2 NM_001204.6(BMPR2):c.77-?_247+?dupduplication Pathogenic 425693
12 BMPR2 NM_001204.6(BMPR2):c.77-?_418+?dupduplication Pathogenic 425694
13 BMPR2 NM_001204.6(BMPR2):c.77-?_621+?deldeletion Pathogenic 425695
14 BMPR2 NM_001204.6(BMPR2):c.77-?_967+?dupduplication Pathogenic 425696
15 BMPR2 NM_001204.6(BMPR2):c.77-?_1276+?deldeletion Pathogenic 425697
16 BMPR2 NM_001204.6(BMPR2):c.248-?_418+?deldeletion Pathogenic 425739
17 BMPR2 NM_001204.6(BMPR2):c.248-?_418+?dupduplication Pathogenic 425740
18 BMPR2 NM_001204.6(BMPR2):c.419-?_529+?deldeletion Pathogenic 425784
19 BMPR2 NM_001204.6(BMPR2):c.419-?_621+?deldeletion Pathogenic 425785
20 BMPR2 NM_001204.6(BMPR2):c.419-?_967+?deldeletion Pathogenic 425786
21 BMPR2 NM_001204.6(BMPR2):c.419-?_1128+?dupduplication Pathogenic 425787
22 BMPR2 NM_001204.6(BMPR2):c.419-?_1413+?deldeletion Pathogenic 425788
23 BMPR2 NM_001204.6(BMPR2):c.530-?_621+?deldeletion Pathogenic 425801
24 BMPR2 NM_001204.6(BMPR2):c.530-?_967+?deldeletion Pathogenic 425802
25 BMPR2 NM_001204.6(BMPR2):c.622-?_852+?deldeletion Pathogenic 425808
26 BMPR2 NM_001204.6(BMPR2):c.622-?_967+?deldeletion Pathogenic 425809
27 BMPR2 NM_001204.6(BMPR2):c.853-?_967+?dupduplication Pathogenic 425835
28 BMPR2 NM_001204.6(BMPR2):c.968-?_1128+?deldeletion Pathogenic 425855
29 BMPR2 NM_001204.6(BMPR2):c.968-?_1276+?deldeletion Pathogenic 425856
30 BMPR2 NM_001204.6(BMPR2):c.968-?_1413+?dupduplication Pathogenic 425857
31 BMPR2 NM_001204.6(BMPR2):c.1277-?_1413+?deldeletion Pathogenic 425919
32 BMPR2 NM_001204.6(BMPR2):c.1277-?_1413+?dupduplication Pathogenic 425920
33 BMPR2 NM_001204.6(BMPR2):c.1414-?_2866+?deldeletion Pathogenic 425941
34 BMPR2 NC_000002.12:g.202249539_202474756del225218deletion Pathogenic 425667 2:203114262-203339479 2:202249539-202474756
35 BMPR2 NM_001204.7(BMPR2):c.-947_-946delinsATindel Pathogenic 425668 rs1085307144 2:203241251-203241252 2:202376528-202376529
36 BMPR2 NM_001204.7(BMPR2):c.9dup (p.Ser4fs)duplication Pathogenic 425676 rs1085307145 2:203242204-203242205 2:202377481-202377482
37 BMPR2 NM_001204.7(BMPR2):c.16_20del (p.Gln6fs)deletion Pathogenic 425677 rs1085307146 2:203242212-203242216 2:202377489-202377493
38 BMPR2 NM_001204.7(BMPR2):c.21_29delinsA (p.Pro8fs)indel Pathogenic 425679 rs1085307148 2:203242218-203242226 2:202377495-202377503
39 BMPR2 NM_001204.7(BMPR2):c.21del (p.Trp9fs)deletion Pathogenic 425678 rs1085307147 2:203242217-203242217 2:202377494-202377494
40 BMPR2 NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter)SNV Pathogenic 425680 rs1085307149 2:203242224-203242224 2:202377501-202377501
41 BMPR2 NM_001204.7(BMPR2):c.28C>T (p.Arg10Trp)SNV Pathogenic 425681 rs1085307150 2:203242225-203242225 2:202377502-202377502
42 BMPR2 NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter)SNV Pathogenic 425682 rs1085307151 2:203242235-203242235 2:202377512-202377512
43 BMPR2 NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter)SNV Pathogenic 425683 rs1085307152 2:203242236-203242236 2:202377513-202377513
44 BMPR2 NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter)SNV Pathogenic 425684 rs1085307153 2:203242244-203242244 2:202377521-202377521
45 BMPR2 NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)SNV Pathogenic 425685 rs1085307154 2:203242245-203242245 2:202377522-202377522
46 BMPR2 NM_001204.7(BMPR2):c.71C>A (p.Ala24Glu)SNV Pathogenic 425687 rs370120266 2:203242268-203242268 2:202377545-202377545
47 BMPR2 NM_001204.7(BMPR2):c.76+1G>TSNV Pathogenic 425688 rs1085307155 2:203242274-203242274 2:202377551-202377551
48 BMPR2 NM_001204.7(BMPR2):c.76+2T>CSNV Pathogenic 425689 rs1085307156 2:203242275-203242275 2:202377552-202377552
49 BMPR2 NM_001204.7(BMPR2):c.77-35_86deldeletion Pathogenic 425691 rs1085307158 2:203329496-203329540 2:202464773-202464817
50 BMPR2 NM_001204.7(BMPR2):c.77-1G>ASNV Pathogenic 425692 rs1085307159 2:203329531-203329531 2:202464808-202464808

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

73 (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

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

7
# CNVD ID Chromosome 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
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Expression for Pulmonary Hypertension, Primary, 1

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

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

36
# 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
Wnt / Hedgehog / Notch 4
11.59 ENG BMPR2 BMP6
2
ALK1 signaling events 1
Show member pathways
 10.39 BMPR2 ACVRL1
3
Cardiomyocyte Differentiation through BMP Receptors 63
9.97 NPPB BMPR2
Sources

GO Terms for Pulmonary Hypertension, Primary, 1

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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 9.17 NPPB MIR204 ENG EDN1 BMPR2 BMP6
2 receptor complex GO:0043235 9.13 ENG BMPR2 ACVRL1

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.95 SLC6A4 RPL5 ENG BMP6
2 response to hypoxia GO:0001666 9.83 SLC6A4 EDN1 ACVRL1
3 negative regulation of cell migration GO:0030336 9.82 MIR204 ENG ACVRL1
4 cellular response to hypoxia GO:0071456 9.79 MALAT1 KCNK3 EDN1
5 negative regulation of cell growth GO:0030308 9.78 NPPB BMPR2 ACVRL1
6 transforming growth factor beta receptor signaling pathway GO:0007179 9.74 ENG BMPR2 ACVRL1
7 blood vessel remodeling GO:0001974 9.67 BMPR2 ACVRL1
8 branching involved in blood vessel morphogenesis GO:0001569 9.67 ENG EDN1
9 blood vessel morphogenesis GO:0048514 9.66 EDN1 ACVRL1
10 outflow tract septum morphogenesis GO:0003148 9.66 ENG BMPR2
11 positive regulation of endothelial cell proliferation GO:0001938 9.65 BMPR2 BMP6 ACVRL1
12 activin receptor signaling pathway GO:0032924 9.64 BMPR2 ACVRL1
13 positive regulation of chondrocyte differentiation GO:0032332 9.64 BMP6 ACVRL1
14 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.63 BMPR2 ACVRL1
15 positive regulation of endothelial cell differentiation GO:0045603 9.63 BMP6 ACVRL1
16 endocardial cushion morphogenesis GO:0003203 9.62 ENG ACVRL1
17 vasoconstriction GO:0042310 9.61 SLC6A4 EDN1
18 regulation of blood pressure GO:0008217 9.61 NPPB EDN1 ACVRL1
19 negative regulation of DNA biosynthetic process GO:2000279 9.6 BMPR2 ACVRL1
20 positive regulation of renal sodium excretion GO:0035815 9.59 NPPB EDN1
21 positive regulation of urine volume GO:0035810 9.58 NPPB EDN1
22 negative regulation of systemic arterial blood pressure GO:0003085 9.58 NPPB BMPR2
23 lymphangiogenesis GO:0001946 9.56 BMPR2 ACVRL1
24 response to transforming growth factor beta GO:0071559 9.55 ENG EDN1
25 artery development GO:0060840 9.54 BMPR2 ACVRL1
26 body fluid secretion GO:0007589 9.52 NPPB EDN1
27 retina vasculature development in camera-type eye GO:0061298 9.51 BMPR2 ACVRL1
28 cellular response to BMP stimulus GO:0071773 9.5 BMPR2 BMP6 ACVRL1
29 dorsal aorta morphogenesis GO:0035912 9.49 ENG ACVRL1
30 lymphatic endothelial cell differentiation GO:0060836 9.46 BMPR2 ACVRL1
31 BMP signaling pathway GO:0030509 9.46 ENG BMPR2 BMP6 ACVRL1
32 positive regulation of BMP signaling pathway GO:0030513 9.43 ENG BMPR2 ACVRL1
33 venous blood vessel development GO:0060841 9.4 BMPR2 ACVRL1
34 endocardial cushion to mesenchymal transition GO:0090500 9.37 ENG ACVRL1
35 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.26 ENG BMPR2 BMP6 ACVRL1
36 response to drug GO:0042493 9.1 SLC6A4 PMS2 KCNK3 ENG EDN1 ABCA3

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 9.37 ENG ACVRL1
2 activin binding GO:0048185 9.32 ENG ACVRL1
3 BMP binding GO:0036122 9.26 ENG BMPR2
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 BMPR2 ACVRL1
5 BMP receptor activity GO:0098821 8.96 BMPR2 ACVRL1
6 transforming growth factor beta-activated receptor activity GO:0005024 8.8 ENG BMPR2 ACVRL1
Sources

Sources for Pulmonary Hypertension, Primary, 1

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