Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
PPH1
MCID: PLM164
MIFTS: 76

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
Sources

Aliases & Classifications for Pulmonary Hypertension, Primary, 1

About this section

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 1:

Name: Pulmonary Hypertension, Primary, 1 57 73 29 6
Pulmonary Arterial Hypertension 57 20 43 58 36 29 6 17 71
Pah 57 20 43 58
Idiopathic Pulmonary Arterial Hypertension 20 58 71
Idiopathic Pulmonary Hypertension 20 43 71
Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 57 29
Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 29
Familial Primary Pulmonary Hypertension 43 71
Sporadic Primary Pulmonary Hypertension 43 71
Primary Pulmonary Hypertension 20 43
Pph1 57 73
Pph 20 43
Hereditary Pulmonary Arterial Hypertension 20
Heritable Pulmonary Arterial Hypertension 20
Familial Pulmonary Arterial Hypertension 20
Pulmonary Hypertension, Familial Primary 13
Hypertension, Pulmonary, Primary, Type 1 39
Primary Pulmonary Arterial Hypertension 58
Pulmonary Arterial Hypertension; Pah 57
Ayerza's Syndrome 71
Ayerza Syndrome 43
Fpah 20
Fpph 43
Ppht 43
Ipah 58
Pht 57

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®:

57 (Updated 05-Mar-2021)
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: Respiratory diseases Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare respiratory diseases


Sources

Summaries for Pulmonary Hypertension, Primary, 1

About this section
MedlinePlus Genetics : 43 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 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 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 ALK1 signaling events. The drugs Silver sulfadiazine and Riociguat have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related phenotypes are dyspnea and chest pain

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

KEGG : 36 Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance and pulmonary pressures. This leads to reduced cardiac output, right heart failure, and ultimately death. PAH is divided into disease subgroups that include heritable (HPAH, formerly familial PAH), idiopathic (IPAH), and PAH associated with a variety of other systemic diseases or drug/toxin exposures. It has been discovered that altered BMPR2 signaling is the major heritable risk factor for development of PAH, via rare variants (mutations) in the BMPR2 gene (coding for a type II receptor member of the transforming growth factor [TGF]-beta family). Pathogenic mutations in the type I receptor ACVRL1 and, at a significantly lower frequency, the type III receptor endoglin in multiple kindreds cause PAH associated with hereditary hemorrhagic telangiectasia (HHT). Together, these observations support a prominent role for TGF-beta family members in the development of PAH.

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

About this section

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 756)
# Related Disease Score Top Affiliating Genes
1 pulmonary arterial hypertension associated with congenital heart disease 32.6 TBX4 ENG BMPR2
2 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 32.2 TBX4 ABCA3
3 tricuspid valve insufficiency 31.4 BMPR2 ACVRL1
4 telangiectasis 31.3 ENG BMPR2 ACVRL1
5 hereditary hemorrhagic telangiectasia 31.2 ENG BMPR2 ACVRL1
6 pulmonary venoocclusive disease 1, autosomal dominant 31.0 EIF2AK4 BMPR2
7 arteriovenous malformation 30.9 ENG BMPR2 ACVRL1
8 pulmonary arteriovenous malformation 30.6 ENG ACVRL1
9 hepatopulmonary syndrome 30.4 ENG BMPR2 ACVRL1
10 chronic pulmonary heart disease 30.4 BMPR2 ACVRL1
11 pulmonary venoocclusive disease 30.4 TBX4 KCNK3 ENG EIF2AK4 BMPR2 ACVRL1
12 telangiectasia, hereditary hemorrhagic, type 2 30.2 ENG ACVRL1
13 neonatal respiratory failure 29.9 TBX4 ABCA3
14 pulmonary valve insufficiency 29.8 PMS2 KCNK3 BMPR2 ACVRL1 ABCA3
15 idiopathic/heritable pulmonary arterial hypertension 29.6 NOP58 KCNK3 ENG BMPR2 ACVRL1
16 heritable pulmonary arterial hypertension 29.5 TBX4 KCNK3 ENG EIF2AK4 BMPR2 ACVRL1
17 newborn respiratory distress syndrome 29.0 GJB2 ABCA3
18 pulmonary hypertension 26.4 TBX4 PMS2 NOP58 MIR204 KCNK3 HYDIN
19 phenylketonuria 11.8
20 neutropenia, severe congenital, 4, autosomal recessive 11.5
21 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.5
22 pulmonary arterial hypertension associated with portal hypertension 11.5
23 lymphedema and cerebral arteriovenous anomaly 11.5
24 pulmonary arterial hypertension associated with another disease 11.4
25 pulmonary arterial hypertension associated with hiv infection 11.4
26 drug- or toxin-induced pulmonary arterial hypertension 11.4
27 pulmonary arterial hypertension associated with schistosomiasis 11.4
28 pulmonary arterial hypertension associated with chronic hemolytic anemia 11.4
29 mitochondrial complex iv deficiency, nuclear type 20 11.3
30 hyperphenylalaninemia, bh4-deficient, a 11.2
31 hyperphenylalaninemia 11.2
32 gaucher disease, type iii 11.2
33 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 11.2
34 pulmonary vein stenosis 11.2
35 pulmonary venous return anomaly 11.2
36 mitochondrial complex iv deficiency, nuclear type 15 11.1
37 classic phenylketonuria 11.1
38 parkinson disease, late-onset 11.1
39 schizophrenia 11.1
40 tyrosinemia 11.1
41 mild hyperphenylalaninemia 11.1
42 systemic scleroderma 11.0
43 psychotic disorder 11.0
44 autism 11.0
45 galactosemia i 11.0
46 vitiligo-associated multiple autoimmune disease susceptibility 1 11.0
47 hermansky-pudlak syndrome 11.0
48 dystonia 11.0
49 pulmonary hypertension, primary, 4 10.9
50 heart septal defect 10.9

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 chest pain 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0100749
3 pulmonary arterial hypertension 58 31 very rare (1%) Very frequent (99-80%) HP:0002092
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 syncope 58 31 frequent (33%) Frequent (79-30%) HP:0001279
14 tricuspid regurgitation 58 31 frequent (33%) Frequent (79-30%) HP:0005180
15 pedal edema 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0010741
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 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
25 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
26 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
27 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Pulmonary Hypertension, Primary, 1:


dyspnea

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ABCA3 ACVRL1 BMPR2 CD28 DIPK1A EIF2AK4
2 nervous system MP:0003631 9.81 ACVRL1 BMPR2 CD28 EIF2AK4 ENG GJB2
3 normal MP:0002873 9.5 ACVRL1 BMPR2 CD28 ENG GJB2 KCNK3
4 respiratory system MP:0005388 9.1 ABCA3 ACVRL1 BMPR2 ENG HYDIN KCNK3
Sources

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 1

About this section

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

(show top 50) (show all 237)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
2
Riociguat Approved Phase 4 625115-55-1
3
Selexipag Approved Phase 4 475086-01-2
4
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
5
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
6
Macitentan Approved Phase 4 441798-33-0
7
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
8 Beraprost Investigational Phase 4 88430-50-6
9 Tezosentan Investigational Phase 4 180384-57-0
10 Platelet Aggregation Inhibitors Phase 4
11 Anticoagulants Phase 4
12 Chelating Agents Phase 4
13 Endothelin A Receptor Antagonists Phase 4
14 Liver Extracts Phase 4
15 Natriuretic Peptide, Brain Phase 4
16
Mannitol Approved, Investigational Phase 3 69-65-8 453 6251
17
Udenafil Approved, Investigational Phase 2, Phase 3 268203-93-6 6918523
18
Ranolazine Approved, Investigational Phase 3 95635-55-5, 142387-99-3 56959
19
Iodine Approved, Investigational Phase 3 7553-56-2 807
20
Trimetazidine Approved, Investigational Phase 2, Phase 3 5011-34-7
21
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
22
tannic acid Approved Phase 3 1401-55-4
23 Vardenafil Dihydrochloride Phase 3
24 2-(3-(4-ethoxybenzyl)-4-chlorophenyl)-6-hydroxymethyltetrahydro-2H-pyran-3,4,... Phase 2, Phase 3
25 Sodium-Glucose Transporter 2 Inhibitors Phase 2, Phase 3
26 Protein Kinase Inhibitors Phase 3
27 Imatinib Mesylate Phase 3 220127-57-1 123596
28
Arginine Investigational, Nutraceutical Phase 3 74-79-3 6322
29
Bisoprolol Approved Phase 1, Phase 2 66722-44-9 2405
30 Orange Approved Phase 2
31
Morphine Approved, Investigational Phase 2 57-27-2 5288826
32
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
33 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
34
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
35
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
36
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
37
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
38
Promethazine Approved, Investigational Phase 2 60-87-7 4927
39
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
40
Clopidogrel Approved Phase 2 120202-66-6, 113665-84-2 60606
41
Fluoxetine Approved, Vet_approved Phase 2 54910-89-3 3386
42
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
43
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
44
Acetaminophen Approved Phase 2 103-90-2 1983
45
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
46
rituximab Approved Phase 2 174722-31-7 10201696
47
Capsaicin Approved Phase 2 404-86-4 1548943
48
Olaparib Approved Phase 1, Phase 2 763113-22-0 23725625
49
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
50
Tamoxifen Approved Phase 2 10540-29-1 2733526

Interventional clinical trials:

(show top 50) (show all 550)
# Name Status NCT ID Phase Drugs
1 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)
2 Intravenous Iron Treatment In Iron Deficient Patients With Idiopathic Pulmonary Arterial Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
3 Hemodynamic Evaluation of Patients With Pulmonary Arterial Hypertension. Response to Sildenafil Treatment Unknown status NCT00483626 Phase 4 oral sildenafil
4 Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Unknown status NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
5 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 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
8 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
9 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
10 A Multi-center, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effects of Tracleer (Bosentan) on Oxygen Saturation and Cardiac Hemodynamics in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
11 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
12 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
13 Transition From Parenteral Prostanoids to Inhaled Treprostinil Completed NCT01268553 Phase 4 Treprostinil
14 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
15 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®
16 A Phase IV, Open-label, Randomized, Multicenter Study of the Safety, Tolerability,and Pharmacokinetics of ACT- 385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH) Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
17 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
18 A Prospective, Randomized, International, Multicenter, Double-arm, Controlled, Open-label Study of Riociguat in Patients With Pulmonary Arterial Hypertension (PAH) Who Are on a Stable Dose of Phosphodiesterase-5 Inhibitors (PDE-5i) With or Without Endothelin Receptor Antagonist (ERA), But Not at Treatment Goal Completed NCT02891850 Phase 4 Riociguat (Adempas, BAY63-2521);Sildenafil;Tadalafil
19 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
20 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®
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 Therapy of Pulmonary Arterial Hypertension (PAH) With Bosentan in Patients With Eisenmenger Syndrome Completed NCT00266162 Phase 4 Bosentan administration
31 An Open Label, Single-arm Study Evaluating a New Thermostable Formulation of FLOLAN™ in Japanese Subjects With Pulmonary Arterial Hypertension (PAH) Completed NCT02705807 Phase 4 FLOLAN injection with currently marketed diluent;FLOLAN injection with reformulated diluent
32 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
33 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
34 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
35 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
36 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
37 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)
38 EXPEDITE: A 16-Week, Multicenter, Open-label Study of Remodulin Induction Followed by Orenitram Optimization in Subjects With Pulmonary Arterial Hypertension Recruiting NCT03497689 Phase 4 Intravenous/Subcutaneous Treprostinil; Oral Treprostinil
39 An Open-label, Multi-national, Multi-center, Single-arm, Uncontrolled, Long-term Extension Study of Orally Administered Riociguat in Patients With Symptomatic Pulmonary Arterial Hypertension (PAH) Who Received Riociguat in a Bayer Clinical Trial. Recruiting NCT02759419 Phase 4 Adempas (Riociguat, BAY63-2521)
40 A Prospective, Multi-center, Randomized Control Trial to Investigate the Efficacy of Pulmonary Artery Denervation to Improved Functional Capacity and Hemodynamics in Patients With Pulmonary Artery Hypertension Recruiting NCT02284737 Phase 4 Sildenafil
41 Upfront Riociguat and Ambrisentan Combination Therapy for Pulmonary Arterial Hypertension: A Safety and Efficacy Pilot Study Recruiting NCT03809156 Phase 4 Riociguat Oral Product
42 Effects of Treprostinil on Right Ventricular Structure and Function in Patients With Pulmonary Arterial Hypertension Recruiting NCT03835676 Phase 4 Treprostinil
43 A MULTINATIONAL, MULTICENTER STUDY TO ASSESS THE EFFECTS OF ORAL SILDENAFIL ON MORTALITY IN ADULTS WITH PULMONARY ARTERIAL HYPERTENSION (PAH) Active, not recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate
44 A Prospective, Multicenter, Single-Arm, Open-Label, Phase 4 Study of the Effects of Selexipag on Right Ventricular Remodeling in Pulmonary Arterial Hypertension Assessed by Cardiac Magnetic Resonance Imaging Not yet recruiting NCT04435782 Phase 4 JNJ-67896049
45 Spironolactone Therapy in Chronic Stable Right HF Trial Suspended NCT03344159 Phase 4 Spironolactone;Placebo
46 Treprostinil for Untreated Symptomatic PAH Trial: A 12-Week Multicenter Randomized Double-Blind Placebo-Controlled Trial of the Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension Terminated NCT00494533 Phase 4 Remodulin (treprostinil sodium)
47 A Safety and Clinical Efficacy Study Measuring Echocardiographic Composite Comparing Ambrisentan (Letairis®) After a Switch From Bosentan (Tracleer®) or Macintentan (Opsumit®) in Treatment of Pulmonary Arterial Hypertension (PAH) Terminated NCT02885012 Phase 4 Ambrisentan
48 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) Using the Crono Five Ambulatory Infusion Pump in Patients With Stable Pulmonary Arterial Hypertension (PAH): Safety, Efficacy and Treatment Satisfaction Terminated NCT00439946 Phase 4 treprostinil
49 A MULTINATIONAL, MULTICENTRE, RANDOMIZED, PARALLEL GROUP, DOUBLE-BLIND STUDY TO ASSESS THE EFFICACY AND SAFETY OF 1MG, 5MG AND 20 MG TID OF ORAL SILDENAFIL IN THE TREATMENT OF SUBJECTS AGED 18 YEARS AND OVER WITH PULMONARY ARTERIAL HYPERTENSION (PAH) Terminated NCT00430716 Phase 4 Sildenafil citrate;Sildenafil citrate;Sildenafil citrate;Sildenafil citrate
50 Combination Therapy of Bosentan and Aerosolized Iloprost in Idiopathic Pulmonary Arterial Hypertension Terminated NCT00120380 Phase 4 Aerosolized iloprost;Placebo

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 1

Sources

Genetic Tests for Pulmonary Hypertension, Primary, 1

About this section

Genetic tests related to Pulmonary Hypertension, Primary, 1:

# Genetic test Affiliating Genes
1 Pulmonary Hypertension, Primary, 1 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
Sources

Anatomical Context for Pulmonary Hypertension, Primary, 1

About this section

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

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

Publications for Pulmonary Hypertension, Primary, 1

About this section

Articles related to Pulmonary Hypertension, Primary, 1:

(show top 50) (show all 12365)
# Title Authors PMID Year
1
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. 61 57 6
16429403 2006
2
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 61 57 6
12358323 2002
3
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 6 57
15965979 2005
4
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 57 6
11015450 2000
5
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 6 57
10903931 2000
6
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 6 57
10973254 2000
7
Genetic analyses in a cohort of children with pulmonary hypertension. 61 57
27587546 2016
8
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 61 57
23502781 2013
9
SMAD1 deficiency in either endothelial or smooth muscle cells can predispose mice to pulmonary hypertension. 57 61
23478097 2013
10
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 61 57
21920918 2011
11
Notch3 signaling promotes the development of pulmonary arterial hypertension. 57 61
19855400 2009
12
Genetics and genomics of pulmonary arterial hypertension. 57 61
19555857 2009
13
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 57 61
19211612 2009
14
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 61 57
18792970 2008
15
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. 61 57
18496036 2008
16
Moderate pulmonary arterial hypertension in male mice lacking the vasoactive intestinal peptide gene. 61 57
17309917 2007
17
Role for miR-204 in human pulmonary arterial hypertension. 47 61
21321078 2011
18
Primary pulmonary hypertension in children may have a different genetic background than in adults. 57
15295086 2004
19
Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension. 57
14583445 2003
20
Expression of human herpesvirus 8 in primary pulmonary hypertension. 57
13679525 2003
21
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. 6
12446270 2003
22
Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension. 57
11602621 2001
23
Genetic clues to the cause of primary pulmonary hypertension. 57
11484696 2001
24
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. 6
11115378 2001
25
Primary pulmonary hypertension. 57
9729004 1998
26
Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension. 57
9486960 1998
27
Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32. 57
9193425 1997
28
Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. 57
9054941 1997
29
Primary pulmonary hypertension. 57
8988890 1997
30
Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. 57
7599869 1995
31
Familial pulmonary hypertension: immunogenetic findings in four Caucasian kindreds. 57
1554203 1992
32
Primary pulmonary hypertension in a patient with a familial platelet storage pool disease: role of serotonin. 57
2368783 1990
33
Heterogeneity of pathologic lesions in familial primary pulmonary hypertension. 57
3202470 1988
34
The protein kinase family: conserved features and deduced phylogeny of the catalytic domains. 6
3291115 1988
35
Primary pulmonary hypertension. A national prospective study. 57
3605900 1987
36
Familial primary pulmonary hypertension: clinical patterns. 57
6703480 1984
37
Familial primary pulmonary hypertension. 57
4277482 1974
38
Abnormal fibrinolysis in familial pulmonary hypertension. 57
4715931 1973
39
Familial pulmonary hypertension. Evidence of autosomal dominant inheritance. 57
5212347 1970
40
Familial occurrence of primary pulmonary hypertension. 57
5922239 1966
41
The familial occurrence of primary pulmonary hypertension. 57
5926389 1966
42
Familial primary pulmonary hypertension. 57
4283636 1966
43
FAMILIAL PULMONARY HYPERTENSION. 57
14053563 1963
44
Echocardiographic follow-up to right ventricular modifications in secondary pulmonary hypertension to diabetes in rats. 61
33349077 2021
45
Evaluation of Left Ventricular Diastolic Function by 2-D Speckle Tracking Echocardiography in Patients with Connective Tissue Disease-Associated Pulmonary Artery Hypertension. 61
33483161 2021
46
Perillyl alcohol suppresses monocrotaline-induced pulmonary arterial hypertension in rats via anti-remodeling, anti-oxidant, and anti-inflammatory effects. 61
33322932 2021
47
Metabolic remodeling in the right ventricle of rats with severe pulmonary arterial hypertension. 61
33495822 2021
48
Inhibiting miR‑1 attenuates pulmonary arterial hypertension in rats. 61
33604679 2021
49
Outcome of paediatric portopulmonary hypertension in the modern management era: A case report of 6 patients. 61
33276028 2021
50
Congenital Heart Disease-Associated Pulmonary Hypertension. 61
33541620 2021
Sources

Variations for Pulmonary Hypertension, Primary, 1

About this section

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

6 (show top 50) (show all 831)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BMPR2 NM_001204.7(BMPR2):c.2558_2559insA (p.Gly853_Glu854insTer) Insertion Pathogenic 812848 rs1574507290 2:203420946-203420947 2:202556223-202556224
2 BMPR2 NM_001204.7(BMPR2):c.2608_2612del (p.Leu870fs) Deletion Pathogenic 812849 rs1574507331 2:203420994-203420998 2:202556271-202556275
3 ACVRL1 NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) SNV Pathogenic 812852 rs1592222308 12:52307363-52307363 12:51913579-51913579
4 BMPR2 NC_000002.12:g.202461237_202467808del Deletion Pathogenic 812939 2:203325958-203332529
5 C2CD6 Deletion Pathogenic 813263 2:201106432-204901548
6 BMPR2 Deletion Pathogenic 812936 2:203234119-203242446 2:202369396-202377723
7 BMPR2 NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) SNV Pathogenic 8797 rs137852742 2:203329673-203329673 2:202464950-202464950
8 BMPR2 NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) SNV Pathogenic 8799 rs137852743 2:203332348-203332348 2:202467625-202467625
9 BMPR2 NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) SNV Pathogenic 8800 rs137852744 2:203395589-203395589 2:202530866-202530866
10 BMPR2 NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) SNV Pathogenic 8801 rs137852745 2:203417479-203417479 2:202552756-202552756
11 BMPR2 NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) SNV Pathogenic 8802 rs137852746 2:203417496-203417496 2:202552773-202552773
12 BMPR2 NM_001204.7(BMPR2):c.26_41del (p.Trp9fs) Deletion Pathogenic 813012 rs1574415799 2:203242221-203242236 2:202377498-202377513
13 BMPR2 NM_001204.7(BMPR2):c.19del (p.Arg7fs) Deletion Pathogenic 813011 rs1574415785 2:203242216-203242216 2:202377493-202377493
14 BMPR2 NM_001204.7(BMPR2):c.246A>C (p.Gln82His) SNV Pathogenic 425727 rs1085307185 2:203329701-203329701 2:202464978-202464978
15 BMPR2 NM_001204.7(BMPR2):c.1447T>C (p.Cys483Arg) SNV Pathogenic 425946 rs1085307354 2:203417472-203417472 2:202552749-202552749
16 BMPR2 NC_000002.12:g.202373247_202381017del Deletion Pathogenic 812937 2:203237969-203245739
17 CD28 Deletion Pathogenic 813264 2:202772963-205218660
18 BMPR2 NM_001204.7(BMPR2):c.2533del (p.Glu845fs) Deletion Pathogenic 812845 rs1574507268 2:203420921-203420921 2:202556198-202556198
19 BMPR2 NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter) SNV Pathogenic 812844 rs1574507215 2:203420888-203420888 2:202556165-202556165
20 BMPR2 NM_001204.7(BMPR2):c.2426dup (p.Ala810fs) Duplication Pathogenic 812843 rs1574507124 2:203420813-203420814 2:202556090-202556091
21 BMPR2 NM_001204.7(BMPR2):c.2372_2373del (p.Met791fs) Deletion Pathogenic 812842 rs1574507076 2:203420760-203420761 2:202556037-202556038
22 BMPR2 NM_001204.7(BMPR2):c.2245dup (p.Gln749fs) Duplication Pathogenic 812841 rs1574506976 2:203420632-203420633 2:202555909-202555910
23 BMPR2 NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) SNV Pathogenic 812840 rs1574506914 2:203420546-203420546 2:202555823-202555823
24 BMPR2 NM_001204.7(BMPR2):c.2027_2030dup (p.Lys678fs) Duplication Pathogenic 812839 rs1574506799 2:203420414-203420415 2:202555691-202555692
25 BMPR2 NM_001204.7(BMPR2):c.2014G>T (p.Glu672Ter) SNV Pathogenic 812838 rs1574506790 2:203420402-203420402 2:202555679-202555679
26 NOP58 Deletion Pathogenic 813266 2:203137870-203296088
27 BMPR2 NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter) SNV Pathogenic 812847 rs1574507276 2:203420936-203420936 2:202556213-202556213
28 BMPR2 NM_001204.7(BMPR2):c.1962_1963insGA (p.Cys655fs) Insertion Pathogenic 812836 rs1574506732 2:203420350-203420351 2:202555627-202555628
29 BMPR2 NM_001204.7(BMPR2):c.1958_1959del (p.Pro653fs) Deletion Pathogenic 812835 rs1574506729 2:203420346-203420347 2:202555623-202555624
30 BMPR2 NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter) SNV Pathogenic 812832 rs1574505253 2:203417457-203417457 2:202552734-202552734
31 BMPR2 NM_001204.7(BMPR2):c.1353_1354TC[3] (p.Val453fs) Microsatellite Pathogenic 812831 rs1574500018 2:203407109-203407110 2:202542386-202542387
32 BMPR2 NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter) SNV Pathogenic 812828 rs1574494632 2:203397421-203397421 2:202532698-202532698
33 BMPR2 NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg) SNV Pathogenic 812827 rs1085307316 2:203397407-203397407 2:202532684-202532684
34 BMPR2 NM_001204.7(BMPR2):c.852_852+1insA Insertion Pathogenic 812821 rs1574488501 2:203383775-203383776 2:202519052-202519053
35 BMPR2 NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter) SNV Pathogenic 812820 rs863223419 2:203383769-203383769 2:202519046-202519046
36 BMPR2 NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter) SNV Pathogenic 812819 rs1574488490 2:203383766-203383766 2:202519043-202519043
37 BMPR2 NM_001204.7(BMPR2):c.823dup (p.Tyr275fs) Duplication Pathogenic 812818 rs1574488484 2:203383745-203383746 2:202519022-202519023
38 BMPR2 NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter) SNV Pathogenic 812817 rs1414031345 2:203383716-203383716 2:202518993-202518993
39 BMPR2 NM_001204.7(BMPR2):c.761_762del (p.His254fs) Deletion Pathogenic 812816 rs1574488412 2:203383684-203383685 2:202518961-202518962
40 BMPR2 NM_001204.7(BMPR2):c.691del (p.Val231fs) Deletion Pathogenic 812815 rs1574488357 2:203383614-203383614 2:202518891-202518891
41 BMPR2 NM_001204.7(BMPR2):c.687_693del (p.Lys230fs) Deletion Pathogenic 812814 rs1574488353 2:203383610-203383616 2:202518887-202518893
42 BMPR2 NM_001204.7(BMPR2):c.683del (p.Ala228fs) Deletion Pathogenic 812813 rs1574488346 2:203383606-203383606 2:202518883-202518883
43 BMPR2 NM_001204.7(BMPR2):c.657del (p.Gly220fs) Deletion Pathogenic 812812 rs1574488314 2:203383578-203383578 2:202518855-202518855
44 BMPR2 NM_001204.7(BMPR2):c.621+1G>A SNV Pathogenic 812809 rs1553508321 2:203379703-203379703 2:202514980-202514980
45 BMPR2 NM_001204.7(BMPR2):c.619dup (p.Glu207fs) Duplication Pathogenic 812808 rs1574486566 2:203379698-203379699 2:202514975-202514976
46 BMPR2 NM_001204.7(BMPR2):c.533_536dup (p.Lys180fs) Duplication Pathogenic 812807 rs1574486497 2:203379612-203379613 2:202514889-202514890
47 BMPR2 NM_001204.7(BMPR2):c.1128+2T>G SNV Pathogenic 812823 rs1574493841 2:203395679-203395679 2:202530956-202530956
48 BMPR2 NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter) SNV Pathogenic 812805 rs1574485996 2:203378493-203378493 2:202513770-202513770
49 BMPR2 NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly) SNV Pathogenic 812802 rs1085307214 2:203332343-203332343 2:202467620-202467620
50 BMPR2 NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg) SNV Pathogenic 812801 rs1574464160 2:203332340-203332340 2:202467617-202467617

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
Sources

Expression for Pulmonary Hypertension, Primary, 1

About this section
Search GEO for disease gene expression data for Pulmonary Hypertension, Primary, 1.
Sources

Pathways for Pulmonary Hypertension, Primary, 1

About this section

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
ALK1 signaling events 1
Show member pathways
 10.05 BMPR2 ACVRL1
Sources

GO Terms for Pulmonary Hypertension, Primary, 1

About this section

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 ENG BMPR2 ACVRL1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.78 PMS2 KCNK3 ENG ABCA3
2 negative regulation of cell migration GO:0030336 9.73 MIR204 ENG ACVRL1
3 BMP signaling pathway GO:0030509 9.63 ENG BMPR2 ACVRL1
4 cellular response to BMP stimulus GO:0071773 9.58 BMPR2 ACVRL1
5 blood vessel remodeling GO:0001974 9.58 BMPR2 ACVRL1
6 outflow tract septum morphogenesis GO:0003148 9.57 ENG BMPR2
7 activin receptor signaling pathway GO:0032924 9.55 BMPR2 ACVRL1
8 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.54 BMPR2 ACVRL1
9 endocardial cushion morphogenesis GO:0003203 9.52 ENG ACVRL1
10 negative regulation of DNA biosynthetic process GO:2000279 9.51 BMPR2 ACVRL1
11 lymphangiogenesis GO:0001946 9.49 BMPR2 ACVRL1
12 artery development GO:0060840 9.43 BMPR2 ACVRL1
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.43 ENG BMPR2 ACVRL1
14 retina vasculature development in camera-type eye GO:0061298 9.4 BMPR2 ACVRL1
15 dorsal aorta morphogenesis GO:0035912 9.37 ENG ACVRL1
16 lymphatic endothelial cell differentiation GO:0060836 9.32 BMPR2 ACVRL1
17 venous blood vessel development GO:0060841 9.16 BMPR2 ACVRL1
18 endocardial cushion to mesenchymal transition GO:0090500 8.96 ENG ACVRL1
19 positive regulation of BMP signaling pathway GO:0030513 8.8 ENG BMPR2 ACVRL1

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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
Content
Loading form....