PPH1
MCID: PLM164
MIFTS: 76

Pulmonary Hypertension, Primary, 1 (PPH1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Pulmonary Hypertension, Primary, 1

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 1:

Name: Pulmonary Hypertension, Primary, 1 57 73 28 5
Pulmonary Arterial Hypertension 57 19 42 58 28 5 16 71 33
Idiopathic Pulmonary Arterial Hypertension 19 58 5 71
Pah 57 19 42 58
Idiopathic Pulmonary Hypertension 19 42 71
Primary Pulmonary Hypertension 19 42 33
Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 57 28
Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 28
Familial Primary Pulmonary Hypertension 42 71
Sporadic Primary Pulmonary Hypertension 42 71
Pph1 57 73
Pph 19 42
Hereditary Pulmonary Arterial Hypertension 19
Heritable Pulmonary Arterial Hypertension 19
Familial Pulmonary Arterial Hypertension 19
Pulmonary Hypertension, Familial Primary 12
Hypertension, Pulmonary, Primary, Type 1 38
Primary Pulmonary Arterial Hypertension 58
Pah - [pulmonary Arterial Hypertension] 33
Arrillaga Ayerza Syndrome 33
Ayerza's Syndrome 71
Ayerza Syndrome 42
Fpah 19
Fpph 42
Ppht 42
Ipah 58
Pht 57

Characteristics:


Inheritance:

Pulmonary Hypertension, Primary, 1: Autosomal dominant 57
Pulmonary Arterial Hypertension: Autosomal dominant 58

Prevelance:

Pulmonary Arterial Hypertension: 1-9/100000 (Europe, Spain, France, United States, Czech Republic, Czech Republic, Switzerland, United Kingdom) 1-9/1000000 (Spain, France, Switzerland, United Kingdom) 58
Idiopathic Pulmonary Arterial Hypertension: 1-9/1000000 (Worldwide, France, France, Spain, Spain, Czech Republic, Switzerland, Switzerland, United Kingdom, United States, Belgium, Israel, Israel) 1-9/100000 (Czech Republic, United Kingdom, Europe) 58

Age Of Onset:

Pulmonary Arterial Hypertension: All ages 58
Idiopathic Pulmonary Arterial Hypertension: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM® 57 178600
OMIM Phenotypic Series 57 PS178600
MeSH 43 D006976
MESH via Orphanet 44 C536282
ICD10 via Orphanet 32 I27.0
UMLS via Orphanet 72 C0152171 C1701938 C2973725 more
ICD11 33 1931148955
UMLS 71 C0004468 C0152171 C0340542 more

Summaries for Pulmonary Hypertension, Primary, 1

MedlinePlus Genetics: 42 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 heritable 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 Signaling by BMP and ALK1 signaling events. The drugs Epoprostenol and Silver sulfadiazine have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and endothelial, and related phenotypes are dyspnea and pulmonary arterial hypertension

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 08-Dec-2022)

GARD: 19 Pulmonary arterial hypertension (PAH) 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. Symptoms include shortness of breath (dyspnea) during exercise and fainting spells. The symptoms tend to get worse over time and may include dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Some cases of PAH are due to genetic changes in the BMPR2 gene and inherited in an autosomal dominant pattern. Most cases of PAH occur in individuals with no family history of the disorder. 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 underlying conditions such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease. PAH can also be induced by certain drugs and toxins. Diagnosis is based on the symptoms, clinical examination, and specialized testing.

Orphanet 58 Pulmonary arterial hypertension: Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH, see these terms) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease, see this term).

Idiopathic pulmonary arterial hypertension: Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH, see this term) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.

UniProtKB/Swiss-Prot: 73 A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs.

Related Diseases for Pulmonary Hypertension, Primary, 1

Diseases in the Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 1 Pulmonary Hypertension, Primary, 5
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 1014)
# Related Disease Score Top Affiliating Genes
1 pulmonary arterial hypertension associated with congenital heart disease 33.0 TBX4 BMPR2
2 heritable pulmonary arterial hypertension 32.5 TBX4 KCNK3 ENG EIF2AK4 BMPR2 ACVRL1
3 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 31.9 TBX4 KCNK3 GDF2 BMPR2 ATP13A3 ACVRL1
4 pulmonary venoocclusive disease 1, autosomal dominant 31.6 EIF2AK4 BMPR2
5 interatrial communication 31.4 RPL5 DIPK1A
6 atrial heart septal defect 31.2 RPL5 DIPK1A BMPR2
7 telangiectasis 30.9 GDF2 ENG BMPR2 ACVRL1
8 patent ductus arteriosus 1 30.9 TBX4 HYDIN BMPR2
9 patent foramen ovale 30.7 TBX4 BMPR2 ACVRL1
10 arteriovenous malformation 30.6 GDF2 ENG BMPR2 ACVRL1
11 pulmonary arteriovenous malformation 30.5 LOC102723566 ENG
12 pulmonary arteriovenous fistulas 30.5 LOC102723566 ENG
13 pulmonary valve insufficiency 30.5 KCNK3 BMPR2
14 chronic pulmonary heart disease 30.3 KCNK3 ENG BMPR2 ACVRL1
15 hereditary hemorrhagic telangiectasia 30.2 TBX4 LOC102723566 KCNK3 GDF2 ENG BMPR2
16 telangiectasia, hereditary hemorrhagic, type 1 30.0 LOC102723566 ENG ACVRL1
17 hepatopulmonary syndrome 30.0 GDF2 ENG BMPR2 ACVRL1
18 diaphragmatic hernia, congenital 30.0 TBX4 BMPR2 ABCA3
19 neonatal respiratory failure 29.9 TBX4 ABCA3
20 pulmonary venoocclusive disease 29.9 TBX4 SOX17 KCNK3 GDF2 ENG EIF2AK4
21 peripheral vascular disease 29.8 GDF2 ENG ACVRL1
22 arteriovenous malformations of the brain 29.7 GDF2 ENG ACVRL1
23 pulmonary hypertension 29.3 TBX4 MIR204 KCNK3 GDF2 ENG EIF2AK4
24 newborn respiratory distress syndrome 29.2 GJB2 ABCA3
25 phenylketonuria 11.8
26 drug- or toxin-induced pulmonary arterial hypertension 11.7
27 pulmonary arterial hypertension associated with connective tissue disease 11.7
28 pulmonary arterial hypertension associated with portal hypertension 11.7
29 idiopathic/heritable pulmonary arterial hypertension 11.7
30 pulmonary arterial hypertension associated with another disease 11.7
31 pulmonary arterial hypertension associated with hiv infection 11.7
32 pulmonary arterial hypertension associated with schistosomiasis 11.7
33 lymphedema and cerebral arteriovenous anomaly 11.6
34 pulmonary arterial hypertension associated with chronic hemolytic anemia 11.6
35 neutropenia, severe congenital, 4, autosomal recessive 11.5
36 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.4
37 total anomalous pulmonary venous return 1 11.4
38 mitochondrial complex iv deficiency, nuclear type 20 11.3
39 alveolar capillary dysplasia with misalignment of pulmonary veins 11.3
40 hyperphenylalaninemia, bh4-deficient, a 11.3
41 systemic scleroderma 11.3
42 classic phenylketonuria 11.3
43 mitochondrial complex iv deficiency, nuclear type 15 11.3
44 connective tissue disease 11.2
45 scleroderma, familial progressive 11.2
46 hyperphenylalaninemia 11.2
47 multiple mitochondrial dysfunctions syndrome 1 11.2
48 pulmonary vein stenosis 11.2
49 amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 11.2
50 congenital pulmonary venous return anomaly 11.2

Comorbidity relations with Pulmonary Hypertension, Primary, 1 via Phenotypic Disease Network (PDN): (show all 36)


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

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 1

Human phenotypes related to Pulmonary Hypertension, Primary, 1:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 58 30 Frequent (33%) Obligate (100%)
HP:0002094
2 pulmonary arterial hypertension 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002092
3 right ventricular hypertrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001667
4 increased pulmonary vascular resistance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005317
5 abnormal jugular vein morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:3000042
6 right ventricular failure 30 Hallmark (90%) HP:0001708
7 elevated right atrial pressure 30 Hallmark (90%) HP:0005168
8 congestive heart failure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001635
9 chest pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0100749
10 syncope 58 30 Frequent (33%) Frequent (79-30%)
HP:0001279
11 tricuspid regurgitation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005180
12 edema of the dorsum of feet 58 30 Frequent (33%) Frequent (79-30%)
HP:0012098
13 heart murmur 58 30 Frequent (33%) Frequent (79-30%)
HP:0030148
14 ankle swelling 58 30 Frequent (33%) Frequent (79-30%)
HP:0001785
15 abnormal thrombosis 30 Frequent (33%) HP:0001977
16 pulmonary arterial medial hypertrophy 30 Frequent (33%) HP:0004964
17 pulmonary artery vasoconstriction 30 Frequent (33%) HP:0005308
18 pulmonary aterial intimal fibrosis 30 Frequent (33%) HP:0005312
19 hemoptysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002105
20 palpitations 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001962
21 cough 30 Very rare (1%) HP:0012735
22 hypertension 30 HP:0000822
23 pedal edema 58 Occasional (29-5%)
24 telangiectasia 30 HP:0001009
25 abnormality of connective tissue 58 Excluded (0%)
26 elevated pulmonary artery pressure 58 Very frequent (99-80%)
27 chronic hemolytic anemia 58 Excluded (0%)
28 arterial intimal fibrosis 30 HP:0011353

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Pulmonary Hypertension, Primary, 1:


dyspnea

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ABCA3 ACVRL1 BMPR2 DIPK1A EIF2AK4 ENG
2 growth/size/body region MP:0005378 9.7 ACVRL1 BMPR2 DIPK1A EIF2AK4 ENG GDF2
3 cardiovascular system MP:0005385 9.47 ABCA3 ACVRL1 ATP13A3 BMPR2 DIPK1A ENG

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 1

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

(show top 50) (show all 325)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5282411
2
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
3
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
4
Racephedrine Approved, Experimental Phase 4 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
5
Phenylephrine Approved Phase 4 59-42-7 6041
6
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
7
Selexipag Approved Phase 4 475086-01-2 9913767
8
Riociguat Approved Phase 4 625115-55-1 11304743
9
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
10
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959 6435378 5311181
11
Ambrisentan Approved, Investigational Phase 4 177036-94-1 6918493
12
Macitentan Approved Phase 4 441798-33-0 16004692
13
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
14
Tezosentan Investigational Phase 4 180384-57-0
15
Beraprost Investigational Phase 4 88430-50-6 2352 5282428
16 Vardenafil Dihydrochloride Phase 4
17 Arginine Vasopressin Phase 4
18 Vasopressins Phase 4
19 Platelet Aggregation Inhibitors Phase 4
20 Epinephryl borate Phase 4
21 Mydriatics Phase 4
22 Nasal Decongestants Phase 4
23 Hormones Phase 4
24 diuretics Phase 4
25 Hormone Antagonists Phase 4
26 Mineralocorticoids Phase 4
27 Mineralocorticoid Receptor Antagonists Phase 4
28 Anticoagulants Phase 4
29 Chelating Agents Phase 4
30 Endothelin A Receptor Antagonists Phase 4
31 Liver Extracts Phase 4
32 Natriuretic Peptide, Brain Phase 4
33
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
34
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
35
Udenafil Approved, Investigational Phase 2, Phase 3 268203-93-6 6918523 135413547
36
Trimetazidine Approved, Investigational Phase 2, Phase 3 5011-34-7 21109
37
Iodine Approved, Investigational Phase 3 7553-56-2 807
38
Ranolazine Approved, Investigational Phase 3 142387-99-3, 95635-55-5 56959
39 Antirheumatic Agents Phase 2, Phase 3
40 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
41 Analgesics, Non-Narcotic Phase 2, Phase 3
42 Immunosuppressive Agents Phase 2, Phase 3
43 Tanshinone Phase 2, Phase 3
44 Plasma-lyte 148 Phase 2, Phase 3
45
Imatinib Mesylate Phase 3 220127-57-1
46 Protein Kinase Inhibitors Phase 3
47 Protective Agents Phase 3
48 Bronchodilator Agents Phase 3
49 Anti-Asthmatic Agents Phase 3
50 Respiratory System Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 649)
# Name Status NCT ID Phase Drugs
1 Upfront Riociguat and Ambrisentan Combination Therapy for Pulmonary Arterial Hypertension: A Safety and Efficacy Pilot Study Unknown status NCT03809156 Phase 4 Riociguat Oral Product
2 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
3 Hemodynamic Evaluation of Patients With Pulmonary Arterial Hypertension. Response to Sildenafil Treatment Unknown status NCT00483626 Phase 4 oral sildenafil
4 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)
5 Intravenous Iron Treatment In Iron Deficient Patients With Idiopathic Pulmonary Arterial Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
6 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
7 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
8 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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®
17 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
18 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®
19 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
20 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
21 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
22 Therapy of Pulmonary Arterial Hypertension (PAH) With Bosentan in Patients With Eisenmenger Syndrome Completed NCT00266162 Phase 4 Bosentan administration
23 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;Sildenafil Citrate
24 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
25 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
26 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®
27 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
28 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
29 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
30 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
31 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
32 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)
33 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
34 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
35 EXPEDITE: A 16-Week, Multicenter, Open-label Study of Remodulin Induction Followed by Orenitram Optimization in Subjects With Pulmonary Arterial Hypertension Completed NCT03497689 Phase 4 Intravenous/Subcutaneous Treprostinil; Oral Treprostinil
36 Management of Acute Pulmonary Hypertensive Crisis in Children With Known Pulmonary Arterial Hypertension Completed NCT05439460 Phase 4 Phenylephrine;Epinephrine;Arginine Vasopressin
37 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
38 Inhaled Iloprost for Sarcoidosis Associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
39 Transition From Parenteral Prostanoids to Inhaled Treprostinil Completed NCT01268553 Phase 4 Treprostinil
40 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
41 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
42 Effects of Treprostinil on Right Ventricular Structure and Function in Patients With Pulmonary Arterial Hypertension Recruiting NCT03835676 Phase 4 Treprostinil
43 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)
44 A Phase 4, Prospective, Multicenter, Single-Arm Study of a Mean Pulmonary Artery Pressure-Targeted Approach With Early and Rapid Treprostinil Therapy to Reverse Right Ventricular Remodeling in Patients With Pulmonary Arterial Hypertension: ARTISAN (Afterload Reduction To Improve Right Ventricular Structure And FuNction) Recruiting NCT05203510 Phase 4 Parenteral Treprostinil;Oral Treprostinil
45 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 Recruiting NCT04435782 Phase 4 JNJ-67896049
46 An Open-label, Prospective, Single Centre Study of the Effects of Riociguat on RIght VEntricular Size and Function in Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension Recruiting NCT04954742 Phase 4 Riociguat
47 Spironolactone Therapy in Chronic Stable Right HF Trial Recruiting NCT03344159 Phase 4 Spironolactone;Placebo
48 An International, Non-Drug Interventional, Real-world Cohort of PAH Patients Newly Initiating PAH Therapy With Guideline-directed Assessments of Disease Severity Recruiting NCT04955990 Phase 4 PAH Therapies
49 A MULTINATIONAL, MULTICENTER STUDY TO ASSESS THE EFFECTS OF ORAL SILDENAFIL ON MORTALITY IN ADULTS WITH PULMONARY ARTERIAL HYPERTENSION (PAH) Terminated NCT02060487 Phase 4 sildenafil citrate
50 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

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 1

Genetic Tests for Pulmonary Hypertension, Primary, 1

Genetic tests related to Pulmonary Hypertension, Primary, 1:

# Genetic test Affiliating Genes
1 Pulmonary Hypertension, Primary, 1 28 BMPR2
2 Pulmonary Arterial Hypertension 28
3 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 28
4 Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 28

Anatomical Context for Pulmonary Hypertension, Primary, 1

Organs/tissues related to Pulmonary Hypertension, Primary, 1:

MalaCards : Heart, Smooth Muscle, Endothelial, Lung, Skeletal Muscle, Liver, Bone Marrow
ODiseA: Artery, Respiratory System-Lung, Respiratory System

Publications for Pulmonary Hypertension, Primary, 1

Articles related to Pulmonary Hypertension, Primary, 1:

(show top 50) (show all 17380)
# Title Authors PMID Year
1
Genetics and genomics of pulmonary arterial hypertension. 62 57 5
19555857 2009
2
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. 62 57 5
15965979 2005
3
Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension. 62 57 5
14583445 2003
4
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. 62 57 5
12358323 2002
5
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. 62 57 5
11015450 2000
6
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. 62 57 5
10973254 2000
7
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. 62 57 5
10903931 2000
8
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. 62 5
34493544 2022
9
Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man. 62 5
34557690 2021
10
Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. 62 5
33971972 2021
11
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients. 62 5
33066286 2020
12
Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4. 62 5
32348326 2020
13
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. 62 5
31727138 2019
14
Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension. 62 5
30578397 2019
15
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults. 62 5
29631995 2018
16
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. 62 5
28388887 2017
17
Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension. 62 5
27453251 2016
18
Genetic analyses in a cohort of children with pulmonary hypertension. 62 57
27587546 2016
19
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 62 5
26387786 2015
20
Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2. 62 5
25429696 2015
21
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. 62 5
25612240 2015
22
Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension. 62 5
24753439 2014
23
BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report. 62 5
24853021 2014
24
Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient. 62 5
24591673 2014
25
The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. 62 5
23139147 2014
26
Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. 62 5
23579436 2013
27
A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension. 62 5
24132125 2013
28
Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension. 62 5
23675998 2013
29
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 62 5
23592887 2013
30
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 62 57
23502781 2013
31
SMAD1 deficiency in either endothelial or smooth muscle cells can predispose mice to pulmonary hypertension. 62 57
23478097 2013
32
Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 62 5
23298310 2013
33
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. 62 5
22632830 2012
34
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. 62 5
21737554 2012
35
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. 62 57
21920918 2011
36
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. 62 5
21801371 2011
37
A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian. 62 5
20496075 2010
38
Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. 62 5
20534176 2010
39
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension. 62 5
20095988 2010
40
[Study of the BMPR2 gene in patients with pulmonary arterial hypertension]. 62 5
20096498 2010
41
Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension. 62 5
20002458 2010
42
Notch3 signaling promotes the development of pulmonary arterial hypertension. 62 57
19855400 2009
43
Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension. 62 5
19223935 2009
44
A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. 62 57
19211612 2009
45
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele. 62 5
19206171 2009
46
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. 62 57
18792970 2008
47
Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. 62 5
18503968 2008
48
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. 62 5
18356561 2008
49
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. 62 57
18496036 2008
50
A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension. 62 5
18364108 2008

Variations for Pulmonary Hypertension, Primary, 1

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

5 (show top 50) (show all 930)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BMPR2 NM_001204.7(BMPR2):c.93_94insT (p.Arg32fs) INSERT Pathogenic
812795 rs1574462520 GRCh37: 2:203329548-203329549
GRCh38: 2:202464825-202464826
2 BMPR2 NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) SNV Pathogenic
Not Provided
812796 rs1085307197 GRCh37: 2:203332245-203332245
GRCh38: 2:202467522-202467522
3 BMPR2 NM_001204.7(BMPR2):c.274del (p.Gln92fs) DEL Pathogenic
812797 rs1574464060 GRCh37: 2:203332265-203332265
GRCh38: 2:202467542-202467542
4 BMPR2 NM_001204.7(BMPR2):c.288T>G (p.Tyr96Ter) SNV Pathogenic
812798 rs749485755 GRCh37: 2:203332282-203332282
GRCh38: 2:202467559-202467559
5 BMPR2 NM_001204.7(BMPR2):c.314del (p.Pro105fs) DEL Pathogenic
812799 rs1574464121 GRCh37: 2:203332307-203332307
GRCh38: 2:202467584-202467584
6 BMPR2 NM_001204.7(BMPR2):c.344dup (p.Cys116fs) DUP Pathogenic
812800 rs1574464150 GRCh37: 2:203332335-203332336
GRCh38: 2:202467612-202467613
7 BMPR2 NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg) SNV Pathogenic
812801 rs1574464160 GRCh37: 2:203332340-203332340
GRCh38: 2:202467617-202467617
8 BMPR2 NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly) SNV Pathogenic
812802 rs1085307214 GRCh37: 2:203332343-203332343
GRCh38: 2:202467620-202467620
9 BMPR2 NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter) SNV Pathogenic
812805 rs1574485996 GRCh37: 2:203378493-203378493
GRCh38: 2:202513770-202513770
10 BMPR2 NM_001204.7(BMPR2):c.533_536dup (p.Lys180fs) DUP Pathogenic
812807 rs1574486497 GRCh37: 2:203379612-203379613
GRCh38: 2:202514889-202514890
11 BMPR2 NM_001204.7(BMPR2):c.619dup (p.Glu207fs) DUP Pathogenic
812808 rs1574486566 GRCh37: 2:203379698-203379699
GRCh38: 2:202514975-202514976
12 BMPR2 NM_001204.7(BMPR2):c.621+1G>A SNV Pathogenic
812809 rs1553508321 GRCh37: 2:203379703-203379703
GRCh38: 2:202514980-202514980
13 BMPR2 NM_001204.7(BMPR2):c.657del (p.Gly220fs) DEL Pathogenic
812812 rs1574488314 GRCh37: 2:203383578-203383578
GRCh38: 2:202518855-202518855
14 BMPR2 NM_001204.7(BMPR2):c.683del (p.Ala228fs) DEL Pathogenic
812813 rs1574488346 GRCh37: 2:203383606-203383606
GRCh38: 2:202518883-202518883
15 BMPR2 NM_001204.7(BMPR2):c.687_693del (p.Lys230fs) DEL Pathogenic
812814 rs1574488353 GRCh37: 2:203383610-203383616
GRCh38: 2:202518887-202518893
16 BMPR2 NM_001204.7(BMPR2):c.691del (p.Val231fs) DEL Pathogenic
812815 rs1574488357 GRCh37: 2:203383614-203383614
GRCh38: 2:202518891-202518891
17 BMPR2 NM_001204.7(BMPR2):c.761_762del (p.His254fs) DEL Pathogenic
812816 rs1574488412 GRCh37: 2:203383684-203383685
GRCh38: 2:202518961-202518962
18 BMPR2 NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter) SNV Pathogenic
812817 rs1414031345 GRCh37: 2:203383716-203383716
GRCh38: 2:202518993-202518993
19 BMPR2 NM_001204.7(BMPR2):c.823dup (p.Tyr275fs) DUP Pathogenic
812818 rs1574488484 GRCh37: 2:203383745-203383746
GRCh38: 2:202519022-202519023
20 BMPR2 NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter) SNV Pathogenic
812819 rs1574488490 GRCh37: 2:203383766-203383766
GRCh38: 2:202519043-202519043
21 BMPR2 NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter) SNV Pathogenic
812820 rs863223419 GRCh37: 2:203383769-203383769
GRCh38: 2:202519046-202519046
22 BMPR2 NM_001204.7(BMPR2):c.852_852+1insA INSERT Pathogenic
812821 rs1574488501 GRCh37: 2:203383775-203383776
GRCh38: 2:202519052-202519053
23 BMPR2 NM_001204.7(BMPR2):c.1128+2T>G SNV Pathogenic
812823 rs1574493841 GRCh37: 2:203395679-203395679
GRCh38: 2:202530956-202530956
24 BMPR2 NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg) SNV Pathogenic
812827 rs1085307316 GRCh37: 2:203397407-203397407
GRCh38: 2:202532684-202532684
25 BMPR2 NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter) SNV Pathogenic
812828 rs1574494632 GRCh37: 2:203397421-203397421
GRCh38: 2:202532698-202532698
26 BMPR2 NM_001204.7(BMPR2):c.2014G>T (p.Glu672Ter) SNV Pathogenic
812838 rs1574506790 GRCh37: 2:203420402-203420402
GRCh38: 2:202555679-202555679
27 BMPR2 NM_001204.7(BMPR2):c.2027_2030dup (p.Lys678fs) DUP Pathogenic
812839 rs1574506799 GRCh37: 2:203420414-203420415
GRCh38: 2:202555691-202555692
28 BMPR2 NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) SNV Pathogenic
812840 rs1574506914 GRCh37: 2:203420546-203420546
GRCh38: 2:202555823-202555823
29 BMPR2 NM_001204.7(BMPR2):c.2245dup (p.Gln749fs) DUP Pathogenic
812841 rs1574506976 GRCh37: 2:203420632-203420633
GRCh38: 2:202555909-202555910
30 BMPR2 NM_001204.7(BMPR2):c.2372_2373del (p.Met791fs) DEL Pathogenic
812842 rs1574507076 GRCh37: 2:203420760-203420761
GRCh38: 2:202556037-202556038
31 BMPR2 NM_001204.7(BMPR2):c.2426dup (p.Ala810fs) DUP Pathogenic
812843 rs1574507124 GRCh37: 2:203420813-203420814
GRCh38: 2:202556090-202556091
32 BMPR2 NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter) SNV Pathogenic
812844 rs1574507215 GRCh37: 2:203420888-203420888
GRCh38: 2:202556165-202556165
33 BMPR2 NM_001204.7(BMPR2):c.2533del (p.Glu845fs) DEL Pathogenic
812845 rs1574507268 GRCh37: 2:203420921-203420921
GRCh38: 2:202556198-202556198
34 BMPR2 NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter) SNV Pathogenic
812847 rs1574507276 GRCh37: 2:203420936-203420936
GRCh38: 2:202556213-202556213
35 BMPR2 NM_001204.7(BMPR2):c.2558_2559insA (p.Gly853_Glu854insTer) INSERT Pathogenic
812848 rs1574507290 GRCh37: 2:203420946-203420947
GRCh38: 2:202556223-202556224
36 BMPR2 NM_001204.7(BMPR2):c.2608_2612del (p.Leu870fs) DEL Pathogenic
812849 rs1574507331 GRCh37: 2:203420994-203420998
GRCh38: 2:202556271-202556275
37 BMPR2 NM_001204.7(BMPR2):c.77-3572_418+119del DEL Pathogenic
812939 GRCh37: 2:203325958-203332529
GRCh38: 2:202461235-202467806
38 overlap with 2 genes DEL Pathogenic
813266 GRCh37: 2:203137870-203296088
GRCh38:
39 BMPR2 NM_001204.7(BMPR2):c.1355_1356dup (p.Val453fs) MICROSAT Pathogenic
812831 rs1574500018 GRCh37: 2:203407109-203407110
GRCh38: 2:202542386-202542387
40 BMPR2 NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter) SNV Pathogenic
812832 rs1574505253 GRCh37: 2:203417457-203417457
GRCh38: 2:202552734-202552734
41 BMPR2 NM_001204.7(BMPR2):c.1958_1959del (p.Pro653fs) DEL Pathogenic
812835 rs1574506729 GRCh37: 2:203420346-203420347
GRCh38: 2:202555623-202555624
42 BMPR2 NM_001204.7(BMPR2):c.1962_1963insGA (p.Cys655fs) INSERT Pathogenic
812836 rs1574506732 GRCh37: 2:203420350-203420351
GRCh38: 2:202555627-202555628
43 BMPR2 DEL Pathogenic
812936 GRCh37: 2:203234119-203242446
GRCh38: 2:202369396-202377723
44 BMPR2 NC_000002.12:g.202373247_202381017del DEL Pathogenic
812937 GRCh37: 2:203237969-203245739
GRCh38: 2:202373246-202381016
45 BMPR2 NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) SNV Pathogenic
Pathogenic
8797 rs137852742 GRCh37: 2:203329673-203329673
GRCh38: 2:202464950-202464950
46 BMPR2 NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) SNV Pathogenic
Not Provided
8799 rs137852743 GRCh37: 2:203332348-203332348
GRCh38: 2:202467625-202467625
47 BMPR2 NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) SNV Pathogenic
Not Provided
8800 rs137852744 GRCh37: 2:203395589-203395589
GRCh38: 2:202530866-202530866
48 BMPR2 NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) SNV Pathogenic
Pathogenic
8801 rs137852745 GRCh37: 2:203417479-203417479
GRCh38: 2:202552756-202552756
49 BMPR2 NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter) SNV Pathogenic
8804 rs137852747 GRCh37: 2:203378530-203378530
GRCh38: 2:202513807-202513807
50 BMPR2 NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) SNV Pathogenic
Pathogenic
Not Provided
8805 rs137852748 GRCh37: 2:203421005-203421005
GRCh38: 2:202556282-202556282

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 rs1085307172
2 BMPR2 p.Cys117Tyr VAR_013671 rs1085307215
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 rs1085307324
8 BMPR2 p.Cys483Arg VAR_013678 rs1085307354
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 rs1085307364
13 BMPR2 p.Asn519Lys VAR_013683 rs1085307365
14 BMPR2 p.Gln82His VAR_033109 rs1085307185
15 BMPR2 p.Gly182Asp VAR_033110 rs137852754
16 BMPR2 p.Arg899Pro VAR_033111 rs137852752
17 BMPR2 p.Tyr67Cys VAR_073041 rs1085307177
18 BMPR2 p.Ser863Asn VAR_073042 rs1006246556
19 BMPR2 p.Cys84Phe VAR_079590 rs1085307197

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

6
# 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

Expression for Pulmonary Hypertension, Primary, 1

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

Pathways for Pulmonary Hypertension, Primary, 1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.95 GDF2 BMPR2 ACVRL1
2
Show member pathways
10.32 GDF2 ENG BMPR2 ACVRL1

GO Terms for Pulmonary Hypertension, Primary, 1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.23 SOX17 RPL5 GDF2 ENG BMPR2
2 response to xenobiotic stimulus GO:0009410 10.22 PMS2 KCNK3 ENG ABCA3
3 negative regulation of cell growth GO:0030308 10.1 ACVRL1 BMPR2 GDF2 SOX17
4 angiogenesis GO:0001525 10.09 TBX4 SOX17 GDF2 ENG ACVRL1
5 positive regulation of endothelial cell proliferation GO:0001938 10.05 GDF2 BMPR2 ACVRL1
6 vasculogenesis GO:0001570 10.03 SOX17 GDF2 ENG
7 BMP signaling pathway GO:0030509 9.97 ACVRL1 BMPR2 ENG GDF2
8 cellular response to BMP stimulus GO:0071773 9.93 GDF2 BMPR2 ACVRL1
9 positive regulation of cartilage development GO:0061036 9.92 GDF2 BMPR2
10 positive regulation of endothelial cell differentiation GO:0045603 9.91 GDF2 ACVRL1
11 lymphangiogenesis GO:0001946 9.88 ACVRL1 BMPR2
12 negative regulation of endothelial cell proliferation GO:0001937 9.88 GDF2 ENG ACVRL1
13 artery development GO:0060840 9.87 BMPR2 ACVRL1
14 retina vasculature development in camera-type eye GO:0061298 9.85 BMPR2 ACVRL1
15 dorsal aorta morphogenesis GO:0035912 9.84 ENG ACVRL1
16 lymphatic endothelial cell differentiation GO:0060836 9.83 BMPR2 ACVRL1
17 venous blood vessel development GO:0060841 9.81 BMPR2 ACVRL1
18 negative regulation of blood vessel endothelial cell migration GO:0043537 9.8 MIR204 GDF2 ACVRL1
19 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.77 BMPR2 ACVRL1
20 activin receptor signaling pathway GO:0032924 9.73 GDF2 BMPR2 ACVRL1
21 regulation of macromolecule metabolic process GO:0060255 9.63 BMPR2 ACVRL1
22 negative regulation of DNA biosynthetic process GO:2000279 9.63 GDF2 BMPR2 ACVRL1
23 regulation of primary metabolic process GO:0080090 9.61 BMPR2 ACVRL1
24 regulation of nitrogen compound metabolic process GO:0051171 9.59 BMPR2 ACVRL1
25 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.56 GDF2 ENG BMPR2 ACVRL1
26 endocardial cushion to mesenchymal transition GO:0090500 9.32 ENG ACVRL1
27 positive regulation of BMP signaling pathway GO:0030513 9.23 GDF2 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 activin binding GO:0048185 9.56 ENG ACVRL1
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.33 BMPR2 ACVRL1
3 BMP receptor activity GO:0098821 9.26 BMPR2 ACVRL1
4 transforming growth factor beta receptor activity GO:0005024 9.1 ENG BMPR2 ACVRL1

Sources for Pulmonary Hypertension, Primary, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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