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MCID: PLM164
MIFTS: 66

Pulmonary Hypertension, Primary, 1

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

About this section

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 1:

Name: Pulmonary Hypertension, Primary, 1 57 75
Pulmonary Arterial Hypertension 57 53 25 37 29 6 73
Idiopathic Pulmonary Arterial Hypertension 53 59 73
Idiopathic Pulmonary Hypertension 53 25 73
Pah 57 53 25
Familial Primary Pulmonary Hypertension 25 73
Sporadic Primary Pulmonary Hypertension 25 73
Primary Pulmonary Hypertension 53 25
Pph1 57 75
Pph 53 25
Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 57
Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57
Hereditary Pulmonary Arterial Hypertension 53
Heritable Pulmonary Arterial Hypertension 53
Familial Pulmonary Arterial Hypertension 53
Pulmonary Hypertension, Familial Primary 13
Hypertension, Pulmonary, Primary, Type 1 40
Primary Pulmonary Arterial Hypertension 59
Pulmonary Arterial Hypertension; Pah 57
Ayerza's Syndrome 73
Ayerza Syndrome 25
Fpah 53
Fpph 25
Ppht 25
Ipah 59
Pht 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

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


HPO:

32
pulmonary hypertension, primary, 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Respiratory diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare respiratory diseases


Sources

Summaries for Pulmonary Hypertension, Primary, 1

About this section
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)

MalaCards based summary : Pulmonary Hypertension, Primary, 1, also known as pulmonary arterial hypertension, is related to heritable pulmonary arterial hypertension and pulmonary 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 TGF-beta Signaling Pathways. The drugs Iloprost and Iron have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related phenotypes are dyspnea and right ventricular hypertrophy

Genetics Home Reference : 25 Pulmonary arterial hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Pulmonary arterial hypertension is one form of a broader condition known as pulmonary hypertension. Pulmonary hypertension occurs when most of the very small arteries throughout the lungs narrow in diameter, which increases the resistance to blood flow through the lungs. To overcome the increased resistance, blood pressure increases in the pulmonary artery and in the right ventricle of the heart, which is the chamber that pumps blood into the pulmonary artery. Ultimately, the increased blood pressure can damage the right ventricle of the heart.

NIH Rare Diseases : 53 Pulmonary arterial hypertension(PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. When PAH is inherited from an affected relative it is called "familial" PAH. Cases with no identifiable cause may be referred to as "idiopathic" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines. 

UniProtKB/Swiss-Prot : 75 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

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 heritable pulmonary arterial hypertension 27.9 ACVRL1 BMPR2 ENG KCNK3
2 pulmonary hypertension 27.5 ACVRL1 BMPR2 ENG FOXF1 KCNK3
3 phenylketonuria 12.4
4 idiopathic and/or familial pulmonary arterial hypertension 12.2
5 mild phenylketonuria 11.8
6 bannayan-riley-ruvalcaba syndrome 11.6
7 cowden syndrome 1 11.6
8 hyperphenylalaninemia 11.5
9 mild hyperphenylalaninemia 11.4
10 pten hamartoma tumor syndrome 11.4
11 classic phenylketonuria 11.4
12 tetrahydrobiopterin deficiency 11.3
13 pulmonary venoocclusive disease 1, autosomal dominant 11.2
14 juvenile polyposis syndrome 11.1
15 tyrosinemia 11.1
16 hyperphenylalaninemia, bh4-deficient, a 11.0
17 3-hydroxyacyl-coa dehydrogenase deficiency 11.0
18 keratomalacia 11.0
19 amino acid metabolic disorder 11.0
20 norse 11.0
21 familial pulmonary arterial hypertension leucopenia and atrial septal defect 10.9
22 pulmonary hypertension, primary, 4 10.9
23 pulmonary venoocclusive disease 2, autosomal recessive 10.9
24 megalencephaly-capillary malformation-polymicrogyria syndrome 10.9
25 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
26 maternal hyperphenylalaninemia 10.9
27 trehalase deficiency 10.8
28 inherited metabolic disorder 10.8
29 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 10.8
30 breast cancer 10.1
31 lung cancer 10.0
32 connective tissue disease 9.9
33 shigellosis 9.9
34 hypothyroidism 9.9
35 granular cell tumor 9.9
36 thyroiditis 9.9
37 chronic pulmonary heart disease 9.7 ACVRL1 BMPR2
38 mixed connective tissue disease 9.6 ACVRL1 BMPR2
39 telangiectasia, hereditary hemorrhagic, type 1 9.5 ACVRL1 ENG
40 pulmonary arteriovenous malformation 9.5 ACVRL1 ENG
41 angiodysplasia 9.5 ACVRL1 ENG
42 weber syndrome 9.4 ACVRL1 ENG
43 pulmonary venoocclusive disease 9.4 ACVRL1 BMPR2 KCNK3
44 arteriovenous malformations of the brain 9.2 ACVRL1 ENG
45 hereditary hemorrhagic telangiectasia 9.1 ACVRL1 ENG
46 telangiectasis 9.1 ACVRL1 BMPR2 ENG
47 arteriovenous malformation 9.1 ACVRL1 BMPR2 ENG
48 atrial heart septal defect 9.1 ACVRL1 RPL5
49 vascular disease 8.9 ACVRL1 BMPR2 ENG

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


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

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



Diseases related to Pulmonary Hypertension, Primary, 1
Sources

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 1

About this section

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
dyspnea
pulmonary function tests may show restrictive pattern

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

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

Hematology:
thrombosis


Clinical features from OMIM:

178600

Human phenotypes related to Pulmonary Hypertension, Primary, 1:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 59 32 frequent (33%) Obligate (100%) HP:0002094
2 right ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001667
3 pulmonary arterial hypertension 59 32 very rare (1%) Very frequent (99-80%) HP:0002092
4 increased pulmonary vascular resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005317
5 syncope 59 32 frequent (33%) Frequent (79-30%) HP:0001279
6 congestive heart failure 59 32 occasional (7.5%) Frequent (79-30%) HP:0001635
7 ankle swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001785
8 tricuspid regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0005180
9 edema of the dorsum of feet 59 32 frequent (33%) Frequent (79-30%) HP:0012098
10 heart murmur 59 32 frequent (33%) Frequent (79-30%) HP:0030148
11 chest pain 59 32 hallmark (90%) Frequent (79-30%) HP:0100749
12 palpitations 59 32 frequent (33%) Occasional (29-5%) HP:0001962
13 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
14 edema of the lower limbs 59 32 frequent (33%) Occasional (29-5%) HP:0010741
15 elevated pulmonary artery pressure 59 Very frequent (99-80%)
16 abnormality of jugular vein 59 Very frequent (99-80%)
17 abnormality of connective tissue 59 Excluded (0%)
18 chronic hemolytic anemia 59 Excluded (0%)
19 hypertension 32 HP:0000822
20 telangiectasia 32 HP:0001009
21 right ventricular failure 32 hallmark (90%) HP:0001708
22 abnormal thrombosis 32 frequent (33%) HP:0001977
23 pulmonary arterial medial hypertrophy 32 frequent (33%) HP:0004964
24 elevated right atrial pressure 32 hallmark (90%) HP:0005168
25 pulmonary artery vasoconstriction 32 frequent (33%) HP:0005308
26 pulmonary aterial intimal fibrosis 32 frequent (33%) HP:0005312
27 arterial intimal fibrosis 32 HP:0011353
28 acrocyanosis 32 occasional (7.5%) HP:0001063
29 ascites 32 occasional (7.5%) HP:0001541
30 sudden cardiac death 32 occasional (7.5%) HP:0001645
31 abnormal tricuspid valve morphology 32 occasional (7.5%) HP:0001702
32 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
33 hepatomegaly 32 frequent (33%) HP:0002240
34 vertigo 32 frequent (33%) HP:0002321
35 capillary hemangioma 32 occasional (7.5%) HP:0005306
36 fatigue 32 frequent (33%) HP:0012378
37 abnormal jugular vein morphology 32 hallmark (90%) HP:3000042

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 cardiovascular system MP:0005385 9.55 ACVRL1 BMPR2 ENG FOXF1 KCNK3
2 muscle MP:0005369 9.26 ACVRL1 BMPR2 ENG FOXF1
3 respiratory system MP:0005388 9.02 ACVRL1 BMPR2 ENG FOXF1 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 308)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 78919-13-8 6443959
2
Iron Approved Phase 4,Phase 2,Not Applicable 7439-89-6 23925
3
Spironolactone Approved Phase 4,Phase 1,Phase 2,Not Applicable 1952-01-7, 52-01-7 5833
4
Epoprostenol Approved Phase 4,Phase 3,Phase 2,Not Applicable 61849-14-7, 35121-78-9 5280427 5282411
5
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 171596-29-5 110635
6
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 81846-19-7 54786 6918140
7
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 147536-97-8 104865
8
Macitentan Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 441798-33-0
9
Lidocaine Approved, Vet_approved Phase 4,Phase 1 137-58-6 3676
10
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
11
Clevidipine Approved, Investigational Phase 4 167221-71-8
12 Selexipag Approved Phase 4,Phase 3,Phase 2 475086-01-2
13
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 77-92-9 311
14 Tezosentan Investigational Phase 4,Phase 3,Phase 2,Not Applicable 180384-57-0
15 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Micronutrients Phase 4,Phase 2,Phase 1,Not Applicable
18 Trace Elements Phase 4,Phase 2,Phase 1,Not Applicable
19 Phosphodiesterase 5 Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
20 Phosphodiesterase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
21 Sildenafil Citrate Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 171599-83-0
22 diuretics Phase 4,Phase 1,Phase 2,Not Applicable
23 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
25 Hormones Phase 4,Phase 2,Phase 1,Not Applicable
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 1,Not Applicable
27 Mineralocorticoid Receptor Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
28 Mineralocorticoids Phase 4,Phase 1,Phase 2,Not Applicable
29 Natriuretic Agents Phase 4,Phase 1,Phase 2,Not Applicable
30 Sodium Channel Blockers Phase 4,Phase 3,Phase 1
31 Vardenafil Dihydrochloride Phase 4,Phase 3
32 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Endothelin Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 calcium channel blockers Phase 4,Phase 1,Not Applicable
36 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
37 Endothelin A Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Anticoagulants Phase 4,Phase 2,Phase 3,Not Applicable
39 Chelating Agents Phase 4,Phase 2,Phase 3,Not Applicable
40 Anesthetics Phase 4,Phase 2,Phase 1
41 Anesthetics, Local Phase 4,Phase 1
42 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
43 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
44 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
45 Liver Extracts Phase 4,Phase 2
46 Natriuretic Peptide, Brain Phase 4
47 Citrate Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Calamus Nutraceutical Phase 4,Phase 3,Phase 2
49
Nitric Oxide Approved Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 10102-43-9 145068 160954
50
Trimetazidine Approved, Investigational Phase 2, Phase 3 5011-34-7

Interventional clinical trials:

(show top 50) (show all 574)
# Name Status NCT ID Phase Drugs
1 Effect of BMPR-2 Gene Mutations on Hemodynamic Response by Iloprost Inhalation in Pulmonary Arterial Hypertension Unknown status NCT01054105 Phase 4 Iloprost
2 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4 Ferricarboxymaltose
3 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4 oral sildenafil
4 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
5 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4 Tadalafil;Vardenafil
6 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4 Levitra
7 Hypotonic Treprostinil Subcutaneous Infusion for Control of Treprostinil Related Site Pain Unknown status NCT01615627 Phase 4 HypotonicTreprostinil Solution;Eutonic Treprostinil Solution
8 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
9 Epoprostenol for Injection in Pulmonary Arterial Hypertension - Extension of AC-066A401 Completed NCT01105117 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
10 Epoprostenol for Injection in Pulmonary Arterial Hypertension Completed NCT01105091 Phase 4 ACT-385781A (Actelion Epoprostenol);Flolan®
11 An Open-Label Uncontrolled Study of the Safety and Efficacy of Ambrisentan in Participants With Exercise-Induced Pulmonary Arterial Hypertension (PAH) Completed NCT01338636 Phase 4 Ambrisentan
12 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4 bosentan
13 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4 Intravenous Treprostinil
14 Safety And Efficacy Of Sildenafil In Children With Pulmonary Arterial Hypertension Completed NCT01642407 Phase 4 Sildenafil
15 Study of Add-on Ambrisentan Therapy to Background Phosphodiesterase Type-5 Inhibitor (PDE5i) Therapy in Pulmonary Arterial Hypertension (ATHENA-1) Completed NCT00617305 Phase 4 Ambrisentan;Placebo;Sildenafil;Tadalafil
16 Safety Evaluation of Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis in Pulmonary Arterial Hypertension (PAH) Subjects Completed NCT00741819 Phase 4 Inhaled treprostinil
17 Effects of the Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Pulmonary Arterial Hypertension (PAH) Completed NCT00303459 Phase 4 bosentan;placebo
18 A Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4 treprostinil sodium
19 Assess the Efficacy and Safety of Sildenafil When Added to Bosentan in the Treatment of Pulmonary Arterial Hypertension Completed NCT00323297 Phase 4 Bosentan;Bosentan;Sildenafil Citrate
20 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Completed NCT01042158 Phase 4 tadalafil and ambrisentan upfront combination therapy
21 Combination Therapy in Pulmonary Arterial Hypertension Completed NCT00433329 Phase 4 Bosentan;Sildenafil
22 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4 Tracleer®
23 Study of a New Thermo Stable Formulation of Epoprostenol Sodium to Treat Pulmonary Arterial Hypertension (PAH) Completed NCT01462565 Phase 4 current marketed FLOLAN (epoprostenol sodium);new thermo stable formulation of epoprostenol sodium
24 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4 ambrisentan
25 Measuring Outcomes In Patients With Pulmonary Arterial Hypertension Not on Active Treatment (MOTION) Completed NCT02191137 Phase 4 Riociguat (Adempas, BAY63-2521)
26 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4 Bosentan administration
27 Transition From Injectable Prostacyclin Medication to Inhaled Prostacyclin Medication Completed NCT01268553 Phase 4 Treprostinil
28 Safety and Tolerability of Rapid Dose Titration of Subcutaneous Remodulin® Therapy in PAH Subjects (RAPID) Completed NCT02847260 Phase 4 Remodulin
29 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4 epoprostenol
30 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4 Iloprost
31 The Effect of Tracleer® on Male Fertility Completed NCT00082186 Phase 4 bosentan
32 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4 bosentan
33 Evaluation of a New Thermostable Formulation of FLOLAN in Japanese Subjects Completed NCT02705807 Phase 4 FLOLAN injection with currently marketed diluent;FLOLAN injection with reformulated diluent
34 Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Children Completed NCT03431649 Phase 4 Beraprost Sodium;Sildenafil Citrate
35 A 48-week Study of the Effect of Dual Therapy (Inhaled Treprostinil and Tadafafil) Versus Monotherapy (Tadalafil). Completed NCT01305252 Phase 4 treprostinil inhalations;tadalafil
36 Safety, Efficacy and Treatment Satisfaction in Patients With PAH Rapidly Switched From Epoprostenol to Remodulin Completed NCT00373360 Phase 4 treprostinil sodium
37 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Completed NCT01051960 Phase 4 Ambrisentan
38 Study of Sildenafil Effects in Combination With Rehabilitation in Patients With Chronic Obstructive Pulmonary Disease (COPD) and Associated Pulmonary Hypertension Completed NCT01055405 Phase 4 Sildenafil
39 Clevidipine for Vasoreactivity Evaluation of the Pulmonary Arterial Bed Completed NCT01121458 Phase 4 Clevidipine
40 Sildenafil Effects on Pulmonary Haemodynamics and Gas Exchange in Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00491803 Phase 4 Sildenafil;Sildenafil
41 Characterization of LV Strain Patterns in Mildly Elevated PCWP and PAH. Completed NCT01800292 Phase 4 sildenafil
42 REPAIR: Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Recruiting NCT02310672 Phase 4 Macitentan
43 The Combination Ambrisentan Plus Spironolactone in Pulmonary Arterial Hypertension Study Recruiting NCT02253394 Phase 4 Ambrisentan plus Spironolactone;Ambrisentan plus Placebo
44 Effect of Selexipag on Daily Life Physical Activity of Patients With Pulmonary Arterial Hypertension. Recruiting NCT03078907 Phase 4 Selexipag;Placebo
45 To Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis Recruiting NCT03053739 Phase 4 Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
46 Riociguat rEplacing PDE-5i Therapy evaLuated Against Continued PDE-5i thErapy Recruiting NCT02891850 Phase 4 Adempas (Riociguat, BAY63-2521);Sildenafil;Tadalafil
47 Crossover Study From Macitentan or Bosentan Over to Ambrisentan Recruiting NCT02885012 Phase 4 Ambrisentan
48 A Study to Investigate the Efficacy of PADN to Improved Functional Capacity and Hemodynamics in Patients With PAH Recruiting NCT02284737 Phase 4 Sildenafil
49 Effects of Oral Sildenafil on Mortality in Adults With PAH Recruiting NCT02060487 Phase 4 sildenafil citrate;sildenafil citrate;sildenafil citrate
50 A Long-term Extension Study of Riociguat in Patients With Symptomatic Pulmonary Arterial Hypertension. Recruiting NCT02759419 Phase 4 Adempas (Riociguat, BAY63-2521)

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 1

Sources

Genetic Tests for Pulmonary Hypertension, Primary, 1

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Genetic tests related to Pulmonary Hypertension, Primary, 1:

# Genetic test Affiliating Genes
1 Pulmonary Arterial Hypertension 29
Sources

Anatomical Context for Pulmonary Hypertension, Primary, 1

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

41
Heart, Lung, Endothelial, Testes, Smooth Muscle, Bone, Liver
Sources

Publications for Pulmonary Hypertension, Primary, 1

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Articles related to Pulmonary Hypertension, Primary, 1:

(show top 50) (show all 1268)
# Title Authors Year
1
Facts in treatment of pulmonary arterial hypertension associated to mixed connective tissue disease. ( 29685309 )
2018
2
Neopterin as a Biomarker in Patients with Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension. ( 29909420 )
2018
3
Hypoxemia in patients with idiopathic or heritable pulmonary arterial hypertension. ( 29377954 )
2018
4
Systemic scleroderma-related interstitial pneumonia associated with borderline pulmonary arterial hypertension. ( 29804068 )
2018
5
Right Ventricular Myofilament Functional Differences in Humans with Systemic Sclerosis-associated versus Idiopathic Pulmonary Arterial Hypertension. ( 29352073 )
2018
6
Bosentan Therapy for Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: A Systemic Review and Meta-Analysis. ( 29393580 )
2018
7
Contribution of Impaired Parasympathetic Activity to Right Ventricular Dysfunction and Pulmonary Vascular Remodeling in Pulmonary Arterial Hypertension. ( 29167228 )
2018
8
STIM2 (Stromal Interaction Molecule 2)-Mediated Increase in Resting Cytosolic Free Ca<sup>2+</sup> Concentration Stimulates PASMC Proliferation in Pulmonary Arterial Hypertension. ( 29358461 )
2018
9
The clinical characteristics and long-term prognosis of pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. ( 29480092 )
2018
10
Pericardial Effusion in Obstructive Sleep Apnea without Pulmonary Arterial Hypertension and Daily Hypoxemia - is it Unusual? ( 29808980 )
2018
11
Selective improvement of pulmonary arterial hypertension with a dual ET<sub>A</sub>/ET<sub>B</sub>receptors antagonist in the apolipoprotein E<sup>-/-</sup>model of PAH and atherosclerosis. ( 29261014 )
2018
12
Coping, social support and information in patients with pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension: A 2-year retrospective cohort study. ( 29326818 )
2018
13
Right Ventricular Base/Apex Ratio in the Assessment of Pediatric Pulmonary Arterial Hypertension - Results from the European Pediatric Pulmonary Vascular Disease Network. ( 29896859 )
2018
14
Selexipag in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension and Eisenmenger Syndrome: First Report. ( 29521655 )
2018
15
Systemic sclerosis: severe pulmonary arterial hypertension and pericardial effusion at diagnosis. ( 29764826 )
2018
16
Vascular Plugging for the Enlarging Pulmonary Arteriovenous Malformation in a Patient With Idiopathic Pulmonary Artery Hypertension. ( 29801749 )
2018
17
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. ( 29650961 )
2018
18
Endothelial dysfunction in pulmonary arterial hypertension: an evolving landscape (2017 Grover Conference Series). ( 29283043 )
2018
19
[Analysis of prognosis and associated risk factors in pediatric idiopathic pulmonary arterial hypertension]. ( 29342993 )
2018
20
Survival of connective tissue disease associated pulmonary arterial hypertension. ( 29745888 )
2018
21
Upfront triple combination therapy-induced pulmonary edema in a case of pulmonary arterial hypertension associated with Sjogren's syndrome. ( 29276674 )
2018
22
Correction: Lung and heart-lung transplantation in pulmonary arterial hypertension. ( 29377947 )
2018
23
Lower DHEA-S levels predict disease and worse outcomes in post-menopausal women with idiopathic, connective tissue disease- and congenital heart disease-associated pulmonary arterial hypertension. ( 29954925 )
2018
24
Lipopolysaccharide acutely suppresses right-ventricular strain in rats with pulmonary artery hypertension. ( 29251561 )
2018
25
Lung Function, Inflammation, and Endothelin-1 in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension. ( 29444773 )
2018
26
Adherence and medication belief in patients with pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension: A nationwide population-based cohort survey. ( 29356440 )
2018
27
First histopathological evidence of irreversible pulmonary vascular disease in dasatinib-induced pulmonary arterial hypertension. ( 29348153 )
2018
28
Targeting the Prostacyclin Pathway with Selexipag in Patients with Pulmonary Arterial Hypertension Receiving Double Combination Therapy: Insights from the Randomized Controlled GRIPHON Study. ( 29307087 )
2018
29
Predictors of Favorable Responses to Immunosuppressive Treatment in Pulmonary Arterial Hypertension Associated With Connective Tissue Disease. ( 28904255 )
2017
30
New targets for pulmonary arterial hypertension: going beyond the currently targeted three pathways. ( 28582316 )
2017
31
Selexipag in Pulmonary Arterial Hypertension: Most Updated Evidence From Recent Preclinical and Clinical Studies. ( 27670133 )
2017
32
Differences in Right Ventricular Functional Changes during Treatment between Systemic Sclerosis-associated Pulmonary Arterial Hypertension and Idiopathic Pulmonary Arterial Hypertension. ( 28282243 )
2017
33
Inhibition of endocan attenuates monocrotaline-induced connective tissue disease related pulmonary arterial hypertension. ( 27912147 )
2017
34
HMGB1 affects the development of pulmonary arterial hypertension via RAGE. ( 28975966 )
2017
35
Elevated microRNA-135a is associated with pulmonary arterial hypertension in experimental mouse model. ( 28415675 )
2017
36
Changes in gene expression profiles in patients with pulmonary arterial hypertension associated with scleroderma treated with tadalafil. ( 27499522 )
2017
37
Endothelial Nox1 oxidase assembly in human pulmonary arterial hypertension; driver of Gremlin1-mediated proliferation. ( 28522681 )
2017
38
Pulse dose steroids in severe pulmonary arterial hypertension secondary to systemic lupus erythematosus. ( 28515936 )
2017
39
Plasma Drug Concentrations in Patients with Pulmonary Arterial Hypertension on Combination Treatment. ( 28494463 )
2017
40
Modulation of Endothelial Bone Morphogenetic Protein Receptor Type 2 Activity by Vascular Endothelial Growth Factor Receptor 3 in Pulmonary Arterial Hypertension. ( 28356442 )
2017
41
A Review of Clinical Trial Endpoints of Patients with Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension and How They Relate to Patient Outcomes in the United States. ( 28025931 )
2017
42
Anti-SmD1 antibodies are associated with renal disorder, seizures, and pulmonary arterial hypertension in Chinese patients with active SLE. ( 28790444 )
2017
43
Is p38 MAPK a Dark Force in Right Ventricular Hypertrophy and Failure in Pulmonary Arterial Hypertension? ( 29090954 )
2017
44
Codependence of Bone Morphogenetic Protein Receptor 2 and Transforming Growth Factor-I^ in Elastic Fiber Assembly and Its Perturbation in Pulmonary Arterial Hypertension. ( 28619995 )
2017
45
Slow-paced respiration therapy to treat symptoms in pulmonary arterial hypertension. ( 27884398 )
2017
46
Medical Management of Pulmonary Hypertension with Unclear and/or Multifactorial Mechanisms (Group 5): Is There a Role for Pulmonary Arterial Hypertension Medications? ( 29046979 )
2017
47
[Long-term outcome and prognostic factors in pregnant women with pulmonary arterial hypertension associated with congenital heart disease]. ( 29136712 )
2017
48
Replacing a phosphodiesterase-5 inhibitor with riociguat in patients with connective tissue disease-associated pulmonary arterial hypertension: a case series. ( 28671485 )
2017
49
Implication of overexpression of dishevelled-associated activator of morphogenesis 1 (Daam-1) for the pathogenesis of human Idiopathic Pulmonary Arterial Hypertension (IPAH). ( 28288669 )
2017
50
Upregulation of Human Endogenous Retrovirus-K Is Linked to Immunity and Inflammation in Pulmonary Arterial Hypertension. ( 28935667 )
2017
Sources

Variations for Pulmonary Hypertension, Primary, 1

About this section

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

75 (show all 19)
# Symbol AA change Variation ID SNP ID
1 BMPR2 p.Cys60Tyr VAR_013670
2 BMPR2 p.Cys117Tyr VAR_013671
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
8 BMPR2 p.Cys483Arg VAR_013678
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
13 BMPR2 p.Asn519Lys VAR_013683
14 BMPR2 p.Gln82His VAR_033109
15 BMPR2 p.Gly182Asp VAR_033110 rs137852754
16 BMPR2 p.Arg899Pro VAR_033111 rs137852752
17 BMPR2 p.Tyr67Cys VAR_073041
18 BMPR2 p.Ser863Asn VAR_073042 rs1006246556Pulmonary
19 BMPR2 p.Cys84Phe VAR_079590

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

6
(show top 50) (show all 1289)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 BMPR2, 1-BP DEL, 2579T deletion Pathogenic
2 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh37 Chromosome 2, 203421083: 203421083
3 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh38 Chromosome 2, 202556360: 202556360
4 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh37 Chromosome 2, 203329673: 203329673
5 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh38 Chromosome 2, 202464950: 202464950
6 BMPR2 BMPR2, 1-BP DEL, 355A deletion Pathogenic
7 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh37 Chromosome 2, 203332348: 203332348
8 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh38 Chromosome 2, 202467625: 202467625
9 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh37 Chromosome 2, 203395589: 203395589
10 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh38 Chromosome 2, 202530866: 202530866
11 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh37 Chromosome 2, 203417479: 203417479
12 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh38 Chromosome 2, 202552756: 202552756
13 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh37 Chromosome 2, 203417496: 203417496
14 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh38 Chromosome 2, 202552773: 202552773
15 BMPR2 BMPR2, 5-BP DEL, NT1099 deletion Pathogenic
16 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh37 Chromosome 2, 203378530: 203378530
17 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh38 Chromosome 2, 202513807: 202513807
18 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh37 Chromosome 2, 203421005: 203421005
19 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh38 Chromosome 2, 202556282: 202556282
20 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh37 Chromosome 2, 203417497: 203417497
21 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh38 Chromosome 2, 202552774: 202552774
22 BMPR2 BMPR2, 2-BP DEL, 1-BP INS, NT690 indel Pathogenic
23 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
24 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
25 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
26 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
27 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh37 Chromosome 2, 203395543: 203395543
28 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh38 Chromosome 2, 202530820: 202530820
29 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh37 Chromosome 2, 203421084: 203421084
30 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh38 Chromosome 2, 202556361: 202556361
31 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh37 Chromosome 2, 203383554: 203383554
32 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh38 Chromosome 2, 202518831: 202518831
33 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh37 Chromosome 2, 203242241: 203242241
34 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh38 Chromosome 2, 202377518: 202377518
35 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203329702
36 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh38 Chromosome 2, 202464809: 202464979
37 BMPR2 BMPR2, EX10DEL deletion Pathogenic
38 BMPR2 BMPR2, EX1-13DEL deletion Pathogenic
39 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh37 Chromosome 2, 203407054: 203407054
40 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh38 Chromosome 2, 202542331: 202542331
41 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh37 Chromosome 2, 26950859: 26950859
42 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh38 Chromosome 2, 26727991: 26727991
43 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023
44 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh38 Chromosome 9, 127825744: 127825744
45 BMPR2 NM_001204.6(BMPR2): c.600A> C (p.Leu200=) single nucleotide variant Benign/Likely benign rs55722784 GRCh37 Chromosome 2, 203379681: 203379681
46 BMPR2 NM_001204.6(BMPR2): c.600A> C (p.Leu200=) single nucleotide variant Benign/Likely benign rs55722784 GRCh38 Chromosome 2, 202514958: 202514958
47 KCNA5 NM_002234.3(KCNA5): c.633G> C (p.Glu211Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35853292 GRCh37 Chromosome 12, 5153946: 5153946
48 KCNA5 NM_002234.3(KCNA5): c.633G> C (p.Glu211Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35853292 GRCh38 Chromosome 12, 5044780: 5044780
49 BMPR2 NM_001204.6(BMPR2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs863223425 GRCh37 Chromosome 2, 203332289: 203332289
50 BMPR2 NM_001204.6(BMPR2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs863223425 GRCh38 Chromosome 2, 202467566: 202467566

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

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

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

37
# 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
TGF-beta Signaling Pathways 65
10.94 ACVRL1 ENG
2
ALK1 signaling events 1
Show member pathways
 10.05 ACVRL1 BMPR2
Sources

GO Terms for Pulmonary Hypertension, Primary, 1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.9 ACVRL1 BMPR2 ENG FOXF1
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.62 ACVRL1 BMPR2
3 signal transduction by protein phosphorylation GO:0023014 9.62 ACVRL1 BMPR2
4 positive regulation of endothelial cell proliferation GO:0001938 9.61 ACVRL1 BMPR2
5 vasculogenesis GO:0001570 9.61 ENG FOXF1
6 negative regulation of blood vessel endothelial cell migration GO:0043537 9.59 ACVRL1 MIR204
7 cellular response to BMP stimulus GO:0071773 9.58 ACVRL1 BMPR2
8 lung alveolus development GO:0048286 9.58 BMPR2 FOXF1
9 blood vessel remodeling GO:0001974 9.57 ACVRL1 BMPR2
10 outflow tract septum morphogenesis GO:0003148 9.56 BMPR2 ENG
11 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.55 ACVRL1 BMPR2
12 endocardial cushion morphogenesis GO:0003203 9.54 ACVRL1 ENG
13 BMP signaling pathway GO:0030509 9.54 ACVRL1 BMPR2 ENG
14 activin receptor signaling pathway GO:0032924 9.52 ACVRL1 BMPR2
15 endocardial cushion development GO:0003197 9.51 BMPR2 FOXF1
16 lymphangiogenesis GO:0001946 9.49 ACVRL1 BMPR2
17 negative regulation of DNA biosynthetic process GO:2000279 9.48 ACVRL1 BMPR2
18 artery development GO:0060840 9.46 ACVRL1 BMPR2
19 dorsal aorta morphogenesis GO:0035912 9.43 ACVRL1 ENG
20 retina vasculature development in camera-type eye GO:0061298 9.4 ACVRL1 BMPR2
21 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.33 ACVRL1 BMPR2 ENG
22 lymphatic endothelial cell differentiation GO:0060836 9.32 ACVRL1 BMPR2
23 endocardial cushion to mesenchymal transition GO:0090500 9.26 ACVRL1 ENG
24 positive regulation of BMP signaling pathway GO:0030513 9.13 ACVRL1 BMPR2 ENG
25 venous blood vessel development GO:0060841 8.8 ACVRL1 BMPR2 FOXF1

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 ACVRL1 ENG
2 obsolete signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.32 ACVRL1 BMPR2
3 activin binding GO:0048185 9.26 ACVRL1 ENG
4 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 ACVRL1 BMPR2
5 BMP binding GO:0036122 8.96 BMPR2 ENG
6 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2
Sources

Sources for Pulmonary Hypertension, Primary, 1

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