PPH1
MCID: PLM164
MIFTS: 74

Pulmonary Hypertension, Primary, 1 (PPH1)

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

Aliases & Classifications for Pulmonary Hypertension, Primary, 1

MalaCards integrated aliases for Pulmonary Hypertension, Primary, 1:

Name: Pulmonary Hypertension, Primary, 1 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:

Orphanet: 59  
Rare respiratory diseases


Summaries for Pulmonary Hypertension, Primary, 1

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 scleroderma, familial progressive and heart disease, 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 Human Embryonic Stem Cell Pluripotency. The drugs Carbetocin and Oxytocin have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and endothelial, and related phenotypes are dyspnea and pulmonary arterial hypertension

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.

Related Diseases for Pulmonary Hypertension, Primary, 1

Diseases in the Pulmonary Hypertension family:

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

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

(show top 50) (show all 364)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 32.4 FBN1 EDN1 BMP6
2 heart disease 30.7 PDE5A NPPB NPPA EDN1 BMPR2 ADM
3 pulmonary venoocclusive disease 30.7 KCNK3 BMPR2 ACVRL1
4 eisenmenger syndrome 30.6 THBD EDN1 BMPR2
5 heritable pulmonary arterial hypertension 30.3 KCNK3 ENG BMPR2 ACVRL1
6 mitral valve stenosis 30.3 NPPB NPPA ACVRL1
7 connective tissue disease 30.3 FBN1 EDN1 BMPR2 ACVRL1
8 arteriovenous malformation 30.3 ENG BMPR2 ACVRL1
9 telangiectasis 30.2 ENG BMPR2 BMP6 ACVRL1
10 pulmonary arteriovenous malformation 30.2 ENG ACVRL1
11 tricuspid valve insufficiency 30.2 NPPB FBN1 ACVRL1
12 pulmonary edema 30.1 NPPB NPPA EDN1
13 chronic thromboembolic pulmonary hypertension 30.0 NPPB FGA EDN1 BMPR2
14 tetralogy of fallot 29.9 NPPB NPPA FBN1 EDN1
15 hepatopulmonary syndrome 29.8 EDN1 BMPR2 ACVRL1
16 mitral valve disease 29.8 SLC6A4 NPPA FBN1
17 vascular disease 29.8 THBD FGA ENG EDN1 BMPR2 BMP6
18 arteries, anomalies of 29.8 NPPB EDN1 BMPR2 ACVRL1
19 renal hypertension 29.7 NPPB EDN1 ADM
20 eclampsia 29.7 EDN1 ENG THBD
21 coronary artery anomaly 29.6 EDN1 NPPA NPPB
22 central sleep apnea 29.6 NPPA NPPB
23 congestive heart failure 29.4 NPPB NPPA EDN1 ADM
24 liver cirrhosis 29.4 NPPA MALAT1 EDN1 ADM
25 pulmonary hypertension 29.1 THBD SLC6A4 PDE5A NPPB NPPA KCNK3
26 pre-eclampsia 29.1 THBD NPPA MALAT1 ENG EDN1 ADM
27 myocardial infarction 28.6 THBD PDE5A NPPB NPPA FGA ENG
28 phenylketonuria 12.5
29 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.3
30 idiopathic and/or familial pulmonary arterial hypertension 12.3
31 cowden syndrome 1 12.0
32 mild phenylketonuria 11.9
33 neutropenia, severe congenital, 4, autosomal recessive 11.8
34 lymphedema and cerebral arteriovenous anomaly 11.8
35 hyperphenylalaninemia, bh4-deficient, a 11.8
36 pulmonary venoocclusive disease 1, autosomal dominant 11.7
37 hyperphenylalaninemia 11.7
38 mild hyperphenylalaninemia 11.6
39 classic phenylketonuria 11.5
40 systemic scleroderma 11.5
41 patent foramen ovale 11.5
42 tetrahydrobiopterin deficiency 11.4
43 pulmonary venoocclusive disease 2, autosomal recessive 11.4
44 pulmonary hypertension, primary, 2 11.4
45 pulmonary hypertension, primary, 3 11.4
46 juvenile polyposis syndrome 11.2
47 megalencephalic leukoencephalopathy with subcortical cysts 1 11.2
48 tyrosinemia 11.2
49 gaucher disease, type iii 11.2
50 telangiectasia, hereditary hemorrhagic, type 4 11.2

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


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

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



Diseases related to Pulmonary Hypertension, Primary, 1

Symptoms & Phenotypes for Pulmonary Hypertension, Primary, 1

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 pulmonary arterial hypertension 59 32 very rare (1%) Very frequent (99-80%) HP:0002092
3 congestive heart failure 59 32 occasional (7.5%) Frequent (79-30%) HP:0001635
4 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
5 chest pain 59 32 hallmark (90%) Frequent (79-30%) HP:0100749
6 edema of the lower limbs 59 32 frequent (33%) Occasional (29-5%) HP:0010741
7 syncope 59 32 frequent (33%) Frequent (79-30%) HP:0001279
8 tricuspid regurgitation 59 32 frequent (33%) Frequent (79-30%) HP:0005180
9 heart murmur 59 32 frequent (33%) Frequent (79-30%) HP:0030148
10 palpitations 59 32 frequent (33%) Occasional (29-5%) HP:0001962
11 right ventricular hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001667
12 increased pulmonary vascular resistance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005317
13 ankle swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001785
14 edema of the dorsum of feet 59 32 frequent (33%) Frequent (79-30%) HP:0012098
15 hypertension 32 HP:0000822
16 sudden cardiac death 32 occasional (7.5%) HP:0001645
17 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
18 hepatomegaly 32 frequent (33%) HP:0002240
19 fatigue 32 frequent (33%) HP:0012378
20 acrocyanosis 32 occasional (7.5%) HP:0001063
21 ascites 32 occasional (7.5%) HP:0001541
22 abnormal thrombosis 32 frequent (33%) HP:0001977
23 vertigo 32 frequent (33%) HP:0002321
24 chronic hemolytic anemia 59 Excluded (0%)
25 telangiectasia 32 HP:0001009
26 elevated pulmonary artery pressure 59 Very frequent (99-80%)
27 abnormality of jugular vein 59 Very frequent (99-80%)
28 abnormality of connective tissue 59 Excluded (0%)
29 right ventricular failure 32 hallmark (90%) HP:0001708
30 elevated right atrial pressure 32 hallmark (90%) HP:0005168
31 pulmonary artery vasoconstriction 32 frequent (33%) HP:0005308
32 pulmonary arterial medial hypertrophy 32 frequent (33%) HP:0004964
33 pulmonary aterial intimal fibrosis 32 frequent (33%) HP:0005312
34 arterial intimal fibrosis 32 HP:0011353
35 capillary hemangioma 32 occasional (7.5%) HP:0005306
36 abnormal tricuspid valve morphology 32 occasional (7.5%) HP:0001702
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 10.32 ACVRL1 ADM ALOX5 BMP2 BMPR2 EDN1
2 homeostasis/metabolism MP:0005376 10.18 ACVRL1 ADM ALOX5 BMP2 BMPR2 EDN1
3 embryo MP:0005380 10.13 ACVRL1 ADM BMP2 BMPR2 EDN1 ENG
4 hematopoietic system MP:0005397 10.1 ACVRL1 ADM ALOX5 BMP2 BMPR2 ENG
5 digestive/alimentary MP:0005381 10 ACVRL1 BMP2 EDN1 ENG FGA FOXF1
6 muscle MP:0005369 9.97 ACVRL1 ADM BMPR2 EDN1 ENG FBN1
7 nervous system MP:0003631 9.96 ACVRL1 BMP2 BMPR2 EDN1 ENG FBN1
8 normal MP:0002873 9.76 ACVRL1 BMP2 BMPR2 EDN1 ENG KCNK3
9 renal/urinary system MP:0005367 9.5 ACVRL1 ADM BMPR2 EDN1 FBN1 NPPA
10 respiratory system MP:0005388 9.23 ACVRL1 ADM BMPR2 ENG FBN1 FOXF1

Drugs & Therapeutics for Pulmonary Hypertension, Primary, 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbetocin Approved, Investigational Phase 3 37025-55-1 71715 16681432
2
Oxytocin Approved, Vet_approved Phase 3 50-56-6 439302 53477758
3 Oxytocics Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Carbetocin Versus Oxytocin in the Prevention of Post Partum Haemorrhage (PPH) in Women Undergoing Caesarean Sections for Placenta Previa: A Randomised Controlled Trial Unknown status NCT02303418 Phase 3 Carbetocin;Oxytocin

Search NIH Clinical Center for Pulmonary Hypertension, Primary, 1

Genetic Tests for Pulmonary Hypertension, Primary, 1

Genetic tests related to Pulmonary Hypertension, Primary, 1:

# Genetic test Affiliating Genes
1 Pulmonary Arterial Hypertension 29

Anatomical Context for Pulmonary Hypertension, Primary, 1

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

41
Heart, Lung, Endothelial, Testes, Smooth Muscle, Bone, Brain

Publications for Pulmonary Hypertension, Primary, 1

Articles related to Pulmonary Hypertension, Primary, 1:

(show top 50) (show all 2183)
# Title Authors Year
1
Health-related quality of life, treatment adherence and psychosocial support in patients with pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension. ( 30011997 )
2019
2
Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. ( 30260738 )
2019
3
5-HTT, BMPR2, EDN1, ENG, KCNA5 gene polymorphisms and susceptibility to pulmonary arterial hypertension: A meta-analysis. ( 30218748 )
2019
4
Real-life experience of inhaled iloprost for patients with pulmonary arterial hypertension: Insights from the Spanish REHAP registry. ( 30316648 )
2019
5
Advances in medical therapy for pulmonary arterial hypertension. ( 30394906 )
2019
6
Reduced free-living activity levels in pulmonary arterial hypertension patients. ( 30419794 )
2019
7
Value of lung perfusion scintigraphy in patients with idiopathic pulmonary arterial hypertension: a patchy pattern to consider. ( 30430895 )
2019
8
Sarpogrelate attenuates pulmonary arterial hypertension via calcium/calcineurin axis. ( 30468677 )
2019
9
Intravenous treprostinil via an implantable pump in pediatric pulmonary arterial hypertension. ( 29944075 )
2019
10
Triple-tyrosine kinase inhibition attenuates pulmonary arterial hypertension and neointimal formation. ( 30142307 )
2019
11
Facts in treatment of pulmonary arterial hypertension associated to mixed connective tissue disease. ( 29685309 )
2018
12
Neopterin as a Biomarker in Patients with Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension. ( 29909420 )
2018
13
Hypoxemia in patients with idiopathic or heritable pulmonary arterial hypertension. ( 29377954 )
2018
14
Systemic scleroderma-related interstitial pneumonia associated with borderline pulmonary arterial hypertension. ( 29804068 )
2018
15
Right Ventricular Myofilament Functional Differences in Humans with Systemic Sclerosis-associated versus Idiopathic Pulmonary Arterial Hypertension. ( 29352073 )
2018
16
Bosentan Therapy for Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension: A Systemic Review and Meta-Analysis. ( 29393580 )
2018
17
Contribution of Impaired Parasympathetic Activity to Right Ventricular Dysfunction and Pulmonary Vascular Remodeling in Pulmonary Arterial Hypertension. ( 29167228 )
2018
18
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
19
The clinical characteristics and long-term prognosis of pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. ( 29480092 )
2018
20
Pericardial Effusion in Obstructive Sleep Apnea without Pulmonary Arterial Hypertension and Daily Hypoxemia - is it Unusual? ( 29808980 )
2018
21
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
22
Coping, social support and information in patients with pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension: A 2-year retrospective cohort study. ( 29326818 )
2018
23
Right Ventricular Base/Apex Ratio in the Assessment of Pediatric Pulmonary Arterial Hypertension - Results from the European Pediatric Pulmonary Vascular Disease Network. ( 29896859 )
2018
24
Selexipag in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension and Eisenmenger Syndrome: First Report. ( 29521655 )
2018
25
Systemic sclerosis: severe pulmonary arterial hypertension and pericardial effusion at diagnosis. ( 29764826 )
2018
26
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. ( 29650961 )
2018
27
Endothelial dysfunction in pulmonary arterial hypertension: an evolving landscape (2017 Grover Conference Series). ( 29283043 )
2018
28
[Analysis of prognosis and associated risk factors in pediatric idiopathic pulmonary arterial hypertension]. ( 29342993 )
2018
29
Survival of connective tissue disease associated pulmonary arterial hypertension. ( 29745888 )
2018
30
Upfront triple combination therapy-induced pulmonary edema in a case of pulmonary arterial hypertension associated with Sjogren's syndrome. ( 29276674 )
2018
31
Correction: Lung and heart-lung transplantation in pulmonary arterial hypertension. ( 29377947 )
2018
32
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
33
Lung Function, Inflammation, and Endothelin-1 in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension. ( 29444773 )
2018
34
Adherence and medication belief in patients with pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension: A nationwide population-based cohort survey. ( 29356440 )
2018
35
First histopathological evidence of irreversible pulmonary vascular disease in dasatinib-induced pulmonary arterial hypertension. ( 29348153 )
2018
36
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
37
Idiopathic pulmonary arterial hypertension - a unrecognized cause of high-shear high-flow haemostatic defects (otherwise referred to as acquired von Willebrand syndrome) in children. ( 30141279 )
2018
38
First Reported Case of Pulmonary Arterial Hypertension Secondary to Tofacitinib Treatment for Undifferentiated Arthritis. ( 30362999 )
2018
39
Bosentan Inducing Autoimmune Hepatitis in a Patient with Idiopathic Pulmonary Arterial Hypertension. ( 29557420 )
2018
40
Elevated levels of platelet- and red cell-derived extracellular vesicles in transfusion-dependent β-thalassemia/HbE patients with pulmonary arterial hypertension. ( 30334069 )
2018
41
Red Blood Cells Distribution Width as a Potential Prognostic Biomarker in Patients With Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension. ( 29107511 )
2018
42
Long-term survival in pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: Insights from a referral center in Portugal. ( 30144959 )
2018
43
Growing number of incident pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension patients in Latvia: a shifting epidemiological landscape? Data from a national pulmonary hypertension registry. ( 30279036 )
2018
44
Increased Antielastase Activity in Idiopathic Pulmonary Arterial Hypertension and Chronic Thromboembolic Pulmonary Hypertension. ( 30382774 )
2018
45
Pulmonary Arterial Hypertension Associated With the Chinese Herb Indigo Naturalis for Ulcerative Colitis: It May Be Reversible. ( 30001991 )
2018
46
Comparison between the efficacy of combination therapy and monotherapy in connective tissue disease associated pulmonary arterial hypertension: a systematic review and meta-analysis. ( 29998831 )
2018
47
Update of screening and diagnostic modalities for connective tissue disease-associated pulmonary arterial hypertension. ( 30415942 )
2018
48
Clinical Characteristics and Outcome of Methamphetamine-Associated Pulmonary Arterial Hypertension and Dilated Cardiomyopathy. ( 29496022 )
2018
49
What Causes Pulmonary Arterial Hypertension in Down Syndrome With Congenital Heart Disease? ( 29760348 )
2018
50
Giant Fold Gastritis Induced by Epoprostenol Infusion in Patients With Pulmonary Arterial Hypertension. ( 30135321 )
2018

Variations for Pulmonary Hypertension, Primary, 1

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 rs108530717
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 rs108530732
8 BMPR2 p.Cys483Arg VAR_013678 rs108530735
9 BMPR2 p.Asp485Gly VAR_013679 rs137852745
10 BMPR2 p.Arg491Gln VAR_013680 rs137852749
11 BMPR2 p.Arg491Trp VAR_013681 rs137852746
12 BMPR2 p.Lys512Thr VAR_013682 rs108530736
13 BMPR2 p.Asn519Lys VAR_013683 rs108530736
14 BMPR2 p.Gln82His VAR_033109 rs108530718
15 BMPR2 p.Gly182Asp VAR_033110 rs137852754
16 BMPR2 p.Arg899Pro VAR_033111 rs137852752
17 BMPR2 p.Tyr67Cys VAR_073041 rs108530717
18 BMPR2 p.Ser863Asn VAR_073042 rs100624655
19 BMPR2 p.Cys84Phe VAR_079590 rs108530719

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

6 (show top 50) (show all 1300)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPR2 BMPR2, EX10DEL deletion Pathogenic
2 BMPR2 BMPR2, EX1-13DEL deletion Pathogenic
3 BMPR2 BMPR2, 1-BP DEL, 2579T deletion Pathogenic
4 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh37 Chromosome 2, 203421083: 203421083
5 BMPR2 NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter) single nucleotide variant Pathogenic rs137852741 GRCh38 Chromosome 2, 202556360: 202556360
6 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh37 Chromosome 2, 203329673: 203329673
7 BMPR2 NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh38 Chromosome 2, 202464950: 202464950
8 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh37 Chromosome 2, 203332348: 203332348
9 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh38 Chromosome 2, 202467625: 202467625
10 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh37 Chromosome 2, 203395589: 203395589
11 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh38 Chromosome 2, 202530866: 202530866
12 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh37 Chromosome 2, 203417479: 203417479
13 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh38 Chromosome 2, 202552756: 202552756
14 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh37 Chromosome 2, 203417496: 203417496
15 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh38 Chromosome 2, 202552773: 202552773
16 BMPR2 BMPR2, 5-BP DEL, NT1099 deletion Pathogenic
17 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh37 Chromosome 2, 203378530: 203378530
18 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh38 Chromosome 2, 202513807: 202513807
19 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh37 Chromosome 2, 203421005: 203421005
20 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh38 Chromosome 2, 202556282: 202556282
21 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh37 Chromosome 2, 203417497: 203417497
22 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh38 Chromosome 2, 202552774: 202552774
23 BMPR2 BMPR2, 2-BP DEL, 1-BP INS, NT690 indel Pathogenic
24 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
25 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
26 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
27 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh38 Chromosome 2, 202467638: 202467638
28 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh37 Chromosome 2, 203395543: 203395543
29 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh38 Chromosome 2, 202530820: 202530820
30 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh37 Chromosome 2, 203421084: 203421084
31 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh38 Chromosome 2, 202556361: 202556361
32 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh37 Chromosome 2, 203383554: 203383554
33 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh38 Chromosome 2, 202518831: 202518831
34 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh37 Chromosome 2, 203242241: 203242241
35 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh38 Chromosome 2, 202377518: 202377518
36 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203329702
37 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh38 Chromosome 2, 202464809: 202464979
38 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh37 Chromosome 2, 203407054: 203407054
39 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh38 Chromosome 2, 202542331: 202542331
40 SMAD1 NM_005900.2(SMAD1): c.8T> C (p.Val3Ala) single nucleotide variant Uncertain significance rs587777018 GRCh37 Chromosome 4, 146435773: 146435773
41 SMAD1 NM_005900.2(SMAD1): c.8T> C (p.Val3Ala) single nucleotide variant Uncertain significance rs587777018 GRCh38 Chromosome 4, 145514621: 145514621
42 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh37 Chromosome 2, 26950859: 26950859
43 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh38 Chromosome 2, 26727991: 26727991
44 SMAD4 NM_005359.5(SMAD4): c.38A> G (p.Asn13Ser) single nucleotide variant Uncertain significance rs281875323 GRCh37 Chromosome 18, 48573454: 48573454
45 SMAD4 NM_005359.5(SMAD4): c.38A> G (p.Asn13Ser) single nucleotide variant Uncertain significance rs281875323 GRCh38 Chromosome 18, 51047084: 51047084
46 BMPR2 NM_001204.6(BMPR2): c.2324G> A (p.Ser775Asn) single nucleotide variant Benign/Likely benign rs2228545 GRCh37 Chromosome 2, 203420712: 203420712
47 BMPR2 NM_001204.6(BMPR2): c.2324G> A (p.Ser775Asn) single nucleotide variant Benign/Likely benign rs2228545 GRCh38 Chromosome 2, 202555989: 202555989
48 BMPR2 NM_001204.6(BMPR2): c.2811G> A (p.Arg937=) single nucleotide variant Benign rs1061157 GRCh37 Chromosome 2, 203421199: 203421199
49 BMPR2 NM_001204.6(BMPR2): c.2811G> A (p.Arg937=) single nucleotide variant Benign rs1061157 GRCh38 Chromosome 2, 202556476: 202556476
50 ENG NM_000118.3(ENG): c.640G> A (p.Gly214Ser) single nucleotide variant Uncertain significance rs150932144 GRCh37 Chromosome 9, 130588023: 130588023

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

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

Expression for Pulmonary Hypertension, Primary, 1

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

Pathways for Pulmonary Hypertension, Primary, 1

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

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
Show member pathways
12.07 BMP2 BMPR2 NPPA NPPB
2 11.36 BMP2 BMP6 BMPR2
3
Show member pathways
11.19 BMP2 BMP6 BMPR2
4 10.94 ADM EDN1 ENG
5 10.27 BMP2 BMPR2 NPPA NPPB

GO Terms for Pulmonary Hypertension, Primary, 1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 ADM ALOX5 BMP2 BMP6 EDN1 FBN1
2 extracellular space GO:0005615 9.47 ADM ALOX5 BMP2 BMP6 BMPR2 EDN1
3 cell surface GO:0009986 9.43 ACVRL1 BMP2 BMPR2 ENG FGA THBD

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.98 ACVRL1 BMP2 EDN1 ENG
2 in utero embryonic development GO:0001701 9.93 ACVRL1 BMP2 EDN1 FOXF1
3 cellular response to hypoxia GO:0071456 9.89 EDN1 KCNK3 MALAT1
4 skeletal system development GO:0001501 9.88 BMP2 BMP6 EDN1 FBN1
5 heart development GO:0007507 9.88 ADM BMP2 EDN1 ENG FBN1 FOXF1
6 female pregnancy GO:0007565 9.87 ADM NPPA THBD
7 cellular response to mechanical stimulus GO:0071260 9.83 BMP6 ENG NPPA
8 cartilage development GO:0051216 9.83 BMP2 BMP6 EDN1
9 negative regulation of cell growth GO:0030308 9.83 ACVRL1 BMPR2 NPPA NPPB
10 cellular response to transforming growth factor beta stimulus GO:0071560 9.8 ACVRL1 EDN1 FBN1
11 positive regulation of osteoblast differentiation GO:0045669 9.79 BMP2 BMP6 BMPR2
12 vasculogenesis GO:0001570 9.78 ADM ENG FOXF1
13 positive regulation of endothelial cell proliferation GO:0001938 9.76 ACVRL1 BMP2 BMP6 BMPR2
14 regulation of blood pressure GO:0008217 9.73 ACVRL1 EDN1 NPPA NPPB
15 positive regulation of BMP signaling pathway GO:0030513 9.72 ACVRL1 BMPR2 ENG
16 BMP signaling pathway GO:0030509 9.72 ACVRL1 BMP2 BMP6 BMPR2 ENG
17 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.71 ACVRL1 BMPR2
18 positive regulation of endothelial cell differentiation GO:0045603 9.71 ACVRL1 BMP6
19 activin receptor signaling pathway GO:0032924 9.71 ACVRL1 BMPR2
20 vasoconstriction GO:0042310 9.71 EDN1 SLC6A4
21 positive regulation of bone mineralization GO:0030501 9.71 BMP2 BMP6 BMPR2
22 positive regulation of cartilage development GO:0061036 9.7 BMP2 BMPR2
23 response to muscle stretch GO:0035994 9.7 EDN1 NPPA
24 negative regulation of blood coagulation GO:0030195 9.7 EDN1 THBD
25 positive regulation of ossification GO:0045778 9.69 BMP2 BMPR2
26 positive regulation of renal sodium excretion GO:0035815 9.69 EDN1 NPPB
27 positive regulation of urine volume GO:0035810 9.69 EDN1 NPPB
28 positive regulation of heart rate GO:0010460 9.69 ADM EDN1 NPPA
29 endocardial cushion development GO:0003197 9.68 BMPR2 FOXF1
30 negative regulation of DNA biosynthetic process GO:2000279 9.68 ACVRL1 BMPR2
31 atrioventricular valve morphogenesis GO:0003181 9.68 BMP2 BMPR2
32 lymphangiogenesis GO:0001946 9.67 ACVRL1 BMPR2
33 response to transforming growth factor beta GO:0071559 9.67 EDN1 ENG
34 cGMP biosynthetic process GO:0006182 9.67 NPPA NPPB
35 regulation of blood vessel size GO:0050880 9.67 EDN1 NPPA NPPB
36 cellular response to BMP stimulus GO:0071773 9.67 ACVRL1 BMP2 BMP6 BMPR2
37 negative regulation of systemic arterial blood pressure GO:0003085 9.66 BMPR2 NPPA
38 receptor guanylyl cyclase signaling pathway GO:0007168 9.66 NPPA NPPB
39 body fluid secretion GO:0007589 9.65 EDN1 NPPB
40 endocardial cushion morphogenesis GO:0003203 9.65 ACVRL1 BMP2 ENG
41 artery development GO:0060840 9.64 ACVRL1 BMPR2
42 dorsal aorta morphogenesis GO:0035912 9.64 ACVRL1 ENG
43 retina vasculature development in camera-type eye GO:0061298 9.63 ACVRL1 BMPR2
44 response to hypoxia GO:0001666 9.63 ACVRL1 ADM BMP2 EDN1 NPPA SLC6A4
45 lymphatic endothelial cell differentiation GO:0060836 9.6 ACVRL1 BMPR2
46 vascular smooth muscle cell development GO:0097084 9.59 ADM ENG
47 negative regulation of vasoconstriction GO:0045906 9.58 ADM BMPR2
48 positive regulation of odontogenesis GO:0042482 9.57 BMP2 EDN1
49 endocardial cushion to mesenchymal transition GO:0090500 9.56 ACVRL1 ENG
50 regulation of signaling receptor activity GO:0010469 9.56 ADM BMP2 BMP6 EDN1 FBN1 KCNK3

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-activated receptor activity GO:0005024 9.48 ACVRL1 BMPR2
2 activin binding GO:0048185 9.46 ACVRL1 ENG
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.43 ACVRL1 BMPR2
4 SMAD binding GO:0046332 9.43 ACVRL1 BMP2 BMPR2
5 signaling receptor binding GO:0005102 9.43 ADM BMP2 EDN1 FGA NPPA NPPB
6 BMP binding GO:0036122 9.4 BMPR2 ENG
7 BMP receptor binding GO:0070700 9.37 BMP2 BMP6
8 BMP receptor activity GO:0098821 9.32 ACVRL1 BMPR2
9 hormone receptor binding GO:0051427 9.16 NPPA NPPB
10 hormone activity GO:0005179 9.02 ADM EDN1 FBN1 NPPA NPPB

Sources for Pulmonary Hypertension, Primary, 1

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
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