PPH1
MCID: PLM122
MIFTS: 57

Pulmonary Hypertension, Familial Primary, 1, with or Without Hht (PPH1) malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Aliases & Descriptions for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

Name: Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 54
Pulmonary Arterial Hypertension 50 25 29 69
Idiopathic Pulmonary Arterial Hypertension 50 56 69
Idiopathic Pulmonary Hypertension 50 25 69
Familial Primary Pulmonary Hypertension 25 69
Sporadic Primary Pulmonary Hypertension 25 69
Primary Pulmonary Hypertension 50 25
Pah 50 25
Pph 50 25
Pulmonary Hypertension, Primary, Fenfluramine or Dexfenfluramine-Associated 54
Hereditary Pulmonary Arterial Hypertension 50
Heritable Pulmonary Arterial Hypertension 50
Familial Pulmonary Arterial Hypertension 50
Pulmonary Hypertension, Familial Primary 13
Primary Pulmonary Arterial Hypertension 56
Pulmonary Hypertension, Primary, 1 66
Ayerza's Syndrome 69
Ayerza Syndrome 25
Fpah 50
Fpph 25
Ppht 25
Ipah 56
Pph1 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
pulmonary hypertension, familial primary, 1, with or without hht:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 178600
Orphanet 56 ORPHA275766
UMLS via Orphanet 70 C3203102
ICD10 via Orphanet 34 I27.0
MeSH 42 D006976

Summaries for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

OMIM : 54 Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by... (178600) more...

MalaCards based summary : Pulmonary Hypertension, Familial Primary, 1, with or Without Hht, also known as pulmonary arterial hypertension, is related to pulmonary venoocclusive disease 1 and heritable pulmonary arterial hypertension, and has symptoms including dyspnea, syncope and hemoptysis. An important gene associated with Pulmonary Hypertension, Familial Primary, 1, with or Without Hht is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are TGF-beta Signaling Pathways and ALK1 signaling events. The drugs Iron and Epoprostenol have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cardiovascular system and embryo

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 : 50 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.  last updated: 9/20/2013

UniProtKB/Swiss-Prot : 66 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, Familial Primary, 1, with or Without Hht

Diseases related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
id Related Disease Score Top Affiliating Genes
1 pulmonary venoocclusive disease 1 30.4 ACVRL1 BMPR2 ENG FOXF1 KCNK3
2 heritable pulmonary arterial hypertension 12.3
3 phenylketonuria 12.2
4 familial pulmonary arterial hypertension leucopenia and atrial septal defect 12.0
5 idiopathic and/or familial pulmonary arterial hypertension 12.0
6 mild phenylketonuria 11.7
7 neutropenia, severe congenital 4, autosomal recessive 11.6
8 pulmonary hypertension 11.4
9 hyperphenylalaninemia 11.4
10 classic phenylketonuria 11.4
11 mild hyperphenylalaninemia 11.3
12 tetrahydrobiopterin deficiency 11.2
13 systemic scleroderma 11.2
14 patent foramen ovale 11.2
15 crest syndrome 11.2
16 tyrosinemia 11.0
17 hyperphenylalaninemia, bh4-deficient, a 10.9
18 amino acid metabolic disorder 10.9
19 keratomalacia 10.9
20 maple syrup urine disease, type ii 10.9
21 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 10.9
22 c3 deficiency 10.9
23 inherited metabolic disorder 10.9
24 norse 10.9
25 abdominal obesity-metabolic syndrome 1 10.9
26 podoconiosis 10.9
27 pulmonary venoocclusive disease 10.9
28 atrial septal defect 9 10.9
29 pulmonary vein stenosis 10.9
30 pulmonary hypertension, primary, 4 10.8
31 pulmonary hypertension, primary, 2 10.8
32 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.8
33 connective tissue disease 10.4
34 heart disease 10.4
35 endotheliitis 10.3
36 chronic thromboembolic pulmonary hypertension 10.3
37 eisenmenger syndrome 10.1
38 hereditary hemorrhagic telangiectasia 10.0
39 mixed connective tissue disease 10.0
40 bronchopulmonary dysplasia 10.0
41 hypoxia 10.0
42 ventricular septal defect 10.0
43 stiff skin syndrome 10.0 ACVRL1 BMPR2
44 adult-onset still's disease 10.0
45 transposition of the great arteries 10.0
46 hematocele of tunica vaginalis testis 9.9 ACVRL1 BMPR2
47 vascular disease 9.9
48 patent ductus arteriosus 9.9
49 lung disease 9.9
50 pulmonary surfactant protein b, deficiency of 9.9 ACVRL1 ENG

Comorbidity relations with Pulmonary Hypertension, Familial Primary, 1, with or Without Hht via Phenotypic Disease Network (PDN): (show all 38)


Active Peptic Ulcer Disease Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Anxiety Disorder 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
Hypothyroidism Idiopathic Interstitial Pneumonia
Intermediate Coronary Syndrome Iron Deficiency Anemia
Ischemic Heart Disease Kidney Disease
Left Ventricular Outflow Tract Obstruction 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, Familial Primary, 1, with or Without Hht:



Diseases related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Symptoms & Phenotypes for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Symptoms by clinical synopsis from OMIM:

178600

Clinical features from OMIM:

178600

Human phenotypes related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

56 32 (show all 37)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 56 32 Obligate (100%) HP:0002094
2 syncope 56 32 Frequent (79-30%) HP:0001279
3 hemoptysis 56 32 Occasional (29-5%) HP:0002105
4 chest pain 56 32 Frequent (79-30%) HP:0100749
5 congestive heart failure 56 32 Frequent (79-30%) HP:0001635
6 edema of the lower limbs 56 32 Occasional (29-5%) HP:0010741
7 tricuspid regurgitation 56 32 Frequent (79-30%) HP:0005180
8 right ventricular hypertrophy 56 32 Very frequent (99-80%) HP:0001667
9 increased pulmonary vascular resistance 56 32 Very frequent (99-80%) HP:0005317
10 abnormality of jugular vein 56 32 Very frequent (99-80%) HP:3000042
11 ankle swelling 56 32 Frequent (79-30%) HP:0001785
12 edema of the dorsum of feet 56 32 Frequent (79-30%) HP:0012098
13 heart murmur 56 32 Frequent (79-30%) HP:0030148
14 palpitations 56 32 Occasional (29-5%) HP:0001962
15 fatigue 32 HP:0012378
16 vertigo 32 HP:0002321
17 hypertension 32 HP:0000822
18 sudden cardiac death 32 HP:0001645
19 recurrent respiratory infections 32 HP:0002205
20 hepatomegaly 32 HP:0002240
21 acrocyanosis 32 HP:0001063
22 ascites 32 HP:0001541
23 abnormal thrombosis 32 HP:0001977
24 pulmonary hypertension 56 Very frequent (99-80%)
25 capillary hemangiomas 32 HP:0005306
26 chronic hemolytic anemia 56 Excluded (0%)
27 abnormality of the tricuspid valve 32 HP:0001702
28 telangiectasia 32 HP:0001009
29 elevated pulmonary artery pressure 56 Very frequent (99-80%)
30 abnormality of connective tissue 56 Excluded (0%)
31 pulmonary arterial hypertension 32 HP:0002092
32 right ventricular failure 32 HP:0001708
33 pulmonary arterial medial hypertrophy 32 HP:0004964
34 elevated right atrial pressure 32 HP:0005168
35 pulmonary artery vasoconstriction 32 HP:0005308
36 pulmonary aterial intimal fibrosis 32 HP:0005312
37 arterial intimal fibrosis 32 HP:0011353

UMLS symptoms related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:


dyspnea

MGI Mouse Phenotypes related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 ACVRL1 BMPR2 ENG FOXF1 KCNK3
2 embryo MP:0005380 9.56 BMPR2 ENG FOXF1 ACVRL1
3 muscle MP:0005369 9.46 ACVRL1 BMPR2 ENG FOXF1
4 normal MP:0002873 9.26 ACVRL1 BMPR2 ENG KCNK3
5 respiratory system MP:0005388 9.02 ACVRL1 BMPR2 ENG FOXF1 KCNK3

Drugs & Therapeutics for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Drugs for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 653)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 2,Phase 1 7439-89-6 23925
2
Epoprostenol Approved Phase 4,Phase 3,Phase 2 61849-14-7, 35121-78-9 5280427 5282411
3
Iloprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 78919-13-8 6443959
4
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 171596-29-5 110635
5
Treprostinil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 81846-19-7 54786 6918140
6
Spironolactone Approved Phase 4,Phase 1,Phase 2 1952-01-7, 52-01-7 5833
7
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 147536-97-8 104865
8
Dalteparin Approved Phase 4,Phase 3 9041-08-1
9
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
10
Nitric Oxide Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 10102-43-9 145068
11
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
12
Epinephrine Approved, Vet_approved Phase 4,Phase 1 51-43-4 5816
13
Midazolam Approved, Illicit Phase 4,Phase 2,Phase 3 59467-70-8 4192
14
Remifentanil Approved Phase 4,Phase 2 132875-61-7 60815
15
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
16
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
17
Magnesium Sulfate Approved, Vet_approved Phase 4,Phase 3 7487-88-9 24083
18
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
19
Ibuprofen Approved Phase 4,Phase 3 15687-27-1 3672
20
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
21
Clevidipine Approved Phase 4 167221-71-8
22
Ranolazine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 142387-99-3, 95635-55-5 56959
23
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
24
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
25
Cyclosporine Approved, Investigational, Vet_approved Phase 4 79217-60-0, 59865-13-3 5284373 6435893
26
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1 22916-47-8 4189
27
Nitroglycerin Approved, Investigational Phase 4,Phase 1 55-63-0 4510
28
Acetazolamide Approved, Vet_approved Phase 4,Phase 2,Phase 3 59-66-5 1986
29
Methazolamide Approved Phase 4 554-57-4 4100
30 Moxonidine Approved Phase 4 75438-57-2 4810
31
Losartan Approved Phase 4,Phase 3,Phase 2 114798-26-4 3961
32
Carvedilol Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 72956-09-3 2585
33
Chlorthalidone Approved Phase 4,Phase 3,Phase 2 77-36-1 2732
34
Eplerenone Approved Phase 4 107724-20-9 150310 443872
35
Irbesartan Approved, Investigational Phase 4,Phase 2,Phase 3 138402-11-6 3749
36
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
37
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
38
Trandolapril Approved Phase 4 87679-37-6 5484727
39
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
40
Magnesium oxide Approved Phase 4,Phase 2 1309-48-4 14792
41
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
42
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
43
Macitentan Approved Phase 4,Phase 3,Phase 2,Phase 1 441798-33-0
44
Nebivolol Approved, Investigational Phase 4,Phase 2,Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
45
Nifedipine Approved Phase 4,Phase 3 21829-25-4 4485
46
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Early Phase 1 83-43-2 6741
47
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Early Phase 1 50-24-8 5755
48 Selexipag Approved Phase 4,Phase 3,Phase 2 475086-01-2
49
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 111025-46-8 4829
50
Progesterone Approved, Vet_approved Phase 4,Phase 3 57-83-0 5994

Interventional clinical trials:

(show top 50) (show all 1666)
id Name Status NCT ID Phase
1 Iron Deficiency In Pulmonary Hypertension Unknown status NCT01288651 Phase 4
2 Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids. Unknown status NCT00705588 Phase 4
3 Hemodynamic Response After Six Months of Sildenafil Unknown status NCT00483626 Phase 4
4 Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost Unknown status NCT01649739 Phase 4
5 Hypotonic Treprostinil Subcutaneous Infusion for Control of Treprostinil Related Site Pain Unknown status NCT01615627 Phase 4
6 Effects of Spironolactone on Collagen Metabolism in Patients With Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4
7 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
8 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis and Treatment With Bosentan Unknown status NCT00625469 Phase 4
9 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil Unknown status NCT00625079 Phase 4
10 A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis Unknown status NCT01042158 Phase 4
11 Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan Unknown status NCT01051960 Phase 4
12 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4
13 Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease (COPD) Unknown status NCT01116063 Phase 4
14 Comparison of Efficacy Different Treatment Regimens in Pulmonary Hypertension Secondary to Lung Disease and or Hypoxia Unknown status NCT01449253 Phase 4
15 Bosentan in Pulmonary Hypertension in Interstitial Lung Disease Treatment Study Unknown status NCT00637065 Phase 4
16 Comparison of Thrombgolytic and Anticoagulation Therapy in Submassive Pulmonary Embolism Unknown status NCT02132689 Phase 4
17 Low Dose Prolonged Infusion of Tissue Type Plasminogen Activator Therapy in Massive Pulmonary Embolism Unknown status NCT02029456 Phase 4
18 Inhaled Nitric Oxide and Inhaled Prostacyclin After Cardiac Surgery for Heart Transplant or LVAD Placement Unknown status NCT01717209 Phase 4
19 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
20 Safety Evaluation of Dexmedetomidine for EBUS-TBNA Unknown status NCT01381627 Phase 4
21 Evaluation of Sildenafil for the Treatment of Moderate Congestive Heart Failure Unknown status NCT00793338 Phase 4
22 Examining Genetic Influence on Response to Beta-Blocker Medications in People With Type 2 Diabetes Unknown status NCT00925119 Phase 4
23 Epoprostenol for Injection in Pulmonary Arterial Hypertension - Extension of AC-066A401 Completed NCT01105117 Phase 4
24 Epoprostenol for Injection in Pulmonary Arterial Hypertension Completed NCT01105091 Phase 4
25 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
26 Study of Add-on Ambrisentan Therapy to Background Phosphodiesterase Type-5 Inhibitor (PDE5i) Therapy in Pulmonary Arterial Hypertension (ATHENA-1) Completed NCT00617305 Phase 4
27 Effects of the Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Pulmonary Arterial Hypertension (PAH) Completed NCT00303459 Phase 4
28 Safety Evaluation of Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis in Pulmonary Arterial Hypertension (PAH) Subjects Completed NCT00741819 Phase 4
29 TRUST-2: Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH) Completed NCT03055221 Phase 4
30 Assess the Efficacy and Safety of Sildenafil When Added to Bosentan in the Treatment of Pulmonary Arterial Hypertension Completed NCT00323297 Phase 4
31 Efficacy of Ventavis Used in Real-life Setting. Completed NCT01355380 Phase 4
32 Combination Therapy in Pulmonary Arterial Hypertension Completed NCT00433329 Phase 4
33 Study Of Right Ventricular Performance In PAH Patients Treated With Rapid Dose Treprostinil (Remodulin) Completed NCT02074449 Phase 4
34 Safety and Tolerability of Rapid Dose Titration of Subcutaneous Remodulin® Therapy in PAH Subjects (RAPID) Completed NCT02847260 Phase 4
35 Transition From Injectable Prostacyclin Medication to Inhaled Prostacyclin Medication Completed NCT01268553 Phase 4
36 Post-Marketing Surveillance of Ventavis® in Chinese Patients With Primary Pulmonary Hypertension (PPH) Completed NCT00882947 Phase 4
37 Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension Completed NCT01330108 Phase 4
38 Measuring Outcomes In Patients With Pulmonary Arterial Hypertension Not on Active Treatment (MOTION) Completed NCT02191137 Phase 4
39 Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension Completed NCT00004754 Phase 4
40 A Transition Study From Flolan® to Remodulin® in Patients With Pulmonary Arterial Hypertension Completed NCT00058929 Phase 4
41 Effects of Tracleer (Bosentan) on Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00317486 Phase 4
42 BREATHE 5-OL: Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology Completed NCT00367770 Phase 4
43 Study of a New Thermo Stable Formulation of Epoprostenol Sodium to Treat Pulmonary Arterial Hypertension (PAH) Completed NCT01462565 Phase 4
44 Bosentan in Treatment of Pulmonary Arterial Hypertension Completed NCT00266162 Phase 4
45 Inhaled Iloprost for Sarcoidosis-associated Pulmonary Hypertension Completed NCT00403650 Phase 4
46 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
47 Pulmonary Artery Remodelling With Bosentan Completed NCT00595049 Phase 4
48 The Effect of Tracleer® on Male Fertility Completed NCT00082186 Phase 4
49 Evaluation of a New Thermostable Formulation of FLOLAN in Japanese Subjects Completed NCT02705807 Phase 4
50 Safety, Efficacy and Treatment Satisfaction in Patients With PAH Rapidly Switched From Epoprostenol to Remodulin Completed NCT00373360 Phase 4

Search NIH Clinical Center for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Genetic Tests for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Genetic tests related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

id Genetic test Affiliating Genes
1 Pulmonary Arterial Hypertension 29

Anatomical Context for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

MalaCards organs/tissues related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

39
Heart, Lung, Testes, Smooth Muscle, Endothelial

Publications for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

66 (show all 18)
id 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

ClinVar genetic disease variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht:

6 (show top 50) (show all 383)
id 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.218C> G (p.Ser73Ter) single nucleotide variant Pathogenic rs137852742 GRCh37 Chromosome 2, 203329673: 203329673
4 BMPR2 BMPR2, 1-BP DEL, 355A deletion Pathogenic
5 BMPR2 NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp) single nucleotide variant Pathogenic rs137852743 GRCh37 Chromosome 2, 203332348: 203332348
6 BMPR2 NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr) single nucleotide variant Pathogenic rs137852744 GRCh37 Chromosome 2, 203395589: 203395589
7 BMPR2 NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly) single nucleotide variant Pathogenic rs137852745 GRCh37 Chromosome 2, 203417479: 203417479
8 BMPR2 NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp) single nucleotide variant Pathogenic rs137852746 GRCh37 Chromosome 2, 203417496: 203417496
9 BMPR2 BMPR2, 5-BP DEL, NT1099 deletion Pathogenic
10 BMPR2 NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter) single nucleotide variant Pathogenic rs137852747 GRCh37 Chromosome 2, 203378530: 203378530
11 BMPR2 NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter) single nucleotide variant Pathogenic rs137852748 GRCh37 Chromosome 2, 203421005: 203421005
12 BMPR2 NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln) single nucleotide variant Pathogenic rs137852749 GRCh37 Chromosome 2, 203417497: 203417497
13 BMPR2 BMPR2, 2-BP DEL, 1-BP INS, NT690 indel Pathogenic
14 BMPR2 NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
15 BMPR2 NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser) single nucleotide variant Pathogenic rs137852750 GRCh37 Chromosome 2, 203332361: 203332361
16 BMPR2 NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic rs137852751 GRCh37 Chromosome 2, 203395543: 203395543
17 BMPR2 NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro) single nucleotide variant Pathogenic rs137852752 GRCh37 Chromosome 2, 203421084: 203421084
18 BMPR2 NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter) single nucleotide variant Pathogenic rs137852753 GRCh37 Chromosome 2, 203383554: 203383554
19 BMPR2 NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs) deletion Pathogenic rs483352902 GRCh37 Chromosome 2, 203242241: 203242241
20 BMPR2 NM_001204.6(BMPR2): c.77-?_247+?del (p.A26_Q82del) deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203329702
21 BMPR2 BMPR2, EX10DEL deletion Pathogenic
22 BMPR2 BMPR2, EX1-13DEL deletion Pathogenic
23 BMPR2 NM_001204.6(BMPR2): c.1297C> T (p.Gln433Ter) single nucleotide variant Pathogenic rs137852756 GRCh37 Chromosome 2, 203407054: 203407054
24 KCNK3 NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp) single nucleotide variant Pathogenic rs398123039 GRCh37 Chromosome 2, 26950859: 26950859
25 BMPR2 NM_001204.6(BMPR2): c.295T> C (p.Cys99Arg) single nucleotide variant Pathogenic rs863223425 GRCh37 Chromosome 2, 203332289: 203332289
26 BMPR2 NM_001204.6(BMPR2): c.377A> G (p.Asn126Ser) single nucleotide variant Pathogenic rs863223426 GRCh37 Chromosome 2, 203332371: 203332371
27 BMPR2 NM_001204.6(BMPR2): c.797G> C (p.Arg266Thr) single nucleotide variant Pathogenic rs374694591 GRCh37 Chromosome 2, 203383720: 203383720
28 BMPR2 NM_001204.6(BMPR2): c.853-2A> G single nucleotide variant Pathogenic rs863223424 GRCh37 Chromosome 2, 203384808: 203384808
29 BMPR2 NM_001204.6(BMPR2): c.1128+1G> A single nucleotide variant Pathogenic rs863223420 GRCh37 Chromosome 2, 203395678: 203395678
30 BMPR2 NM_001204.6(BMPR2): c.1426_1450del25 (p.Leu476Glyfs) deletion Pathogenic rs863223422 GRCh37 Chromosome 2, 203417451: 203417475
31 ACVRL1 NM_000020.2(ACVRL1): c.430C> T (p.Arg144Ter) single nucleotide variant Pathogenic rs758683062 GRCh37 Chromosome 12, 52307459: 52307459
32 ACVRL1 NM_000020.2(ACVRL1): c.1451G> A (p.Arg484Gln) single nucleotide variant Pathogenic rs863223408 GRCh38 Chromosome 12, 51920832: 51920832
33 BMPR2 NM_001204.6(BMPR2): c.439C> T (p.Arg147Ter) single nucleotide variant Pathogenic rs869025366 GRCh37 Chromosome 2, 203378462: 203378462
34 BMPR2 NM_001204.6(BMPR2): c.1276G> C (p.Gly426Arg) single nucleotide variant Pathogenic/Likely pathogenic rs869025367 GRCh37 Chromosome 2, 203397455: 203397455
35 FOXF1 NC_000016.10: g.(?_86510584)_(86513143_?)del deletion Pathogenic GRCh38 Chromosome 16, 86510584: 86513143
36 BMPR2 NM_001204.6(BMPR2): c.1125_1128+16del deletion Pathogenic rs878854272 GRCh38 Chromosome 2, 202530951: 202530970
37 BMPR2 NM_001204.6(BMPR2): c.248-329_418+6029del deletion Likely pathogenic GRCh37 Chromosome 2, 203331913: 203338445
38 BMPR2 NM_001204.6(BMPR2): c.16C> T (p.Gln6Ter) single nucleotide variant Pathogenic rs886039219 GRCh38 Chromosome 2, 202377490: 202377490
39 BMPR2 NM_001204.6(BMPR2): c.174_175dupAT (p.Leu59Tyrfs) duplication Pathogenic rs886039223 GRCh38 Chromosome 2, 202464906: 202464907
40 BMPR2 NM_001204.6(BMPR2): c.1277-10_1277-9insGGG insertion Pathogenic rs886039220 GRCh38 Chromosome 2, 202542301: 202542302
41 BMPR2 NM_001204.6(BMPR2): c.1443_1445delAGA (p.Glu481del) deletion Pathogenic rs886039221 GRCh37 Chromosome 2, 203417468: 203417470
42 BMPR2 NM_001204.6(BMPR2): c.1469C> T (p.Ala490Val) single nucleotide variant Pathogenic rs886039222 GRCh38 Chromosome 2, 202552771: 202552771
43 BMPR2 NM_001204.6(BMPR2): c.1789C> T (p.Arg597Ter) single nucleotide variant Pathogenic rs886039673 GRCh37 Chromosome 2, 203420177: 203420177
44 BMPR2 NM_001204.6(BMPR2): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs886041324 GRCh37 Chromosome 2, 203383560: 203383560
45 BMPR2 NM_001204.6(BMPR2): c.77-?_418+?del deletion Pathogenic GRCh37 Chromosome 2, 203329532: 203332412
46 BMPR2 NM_001204.6(BMPR2): c.1398G> A (p.Trp466Ter) single nucleotide variant Pathogenic rs1060502576 GRCh38 Chromosome 2, 202542432: 202542432
47 BMPR2 NM_001204.6(BMPR2): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs1060502581 GRCh38 Chromosome 2, 202520195: 202520195
48 BMPR2 NG_009363.1: g.(6225_93482)_(188621_?)del deletion Pathogenic GRCh38 Chromosome 2, 202377551: 202559947
49 BMPR2 NG_009363.1: g.(96364_142392)_(188621_?)del deletion Pathogenic GRCh38 Chromosome 2, 202467690: 202559947
50 BMPR2 NG_009363.1: g.(171122_181389)_(188621_?)del deletion Pathogenic GRCh38 Chromosome 2, 202542448: 202559947

Copy number variations for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht from CNVD:

7
id 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, Familial Primary, 1, with or Without Hht

Search GEO for disease gene expression data for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht.

Pathways for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Pathways related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.96 ACVRL1 ENG
2
Show member pathways
10.05 ACVRL1 BMPR2

GO Terms for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

Cellular components related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.8 ACVRL1 BMPR2 ENG

Biological processes related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.87 ACVRL1 BMPR2 ENG FOXF1
2 negative regulation of cell growth GO:0030308 9.63 ACVRL1 BMPR2
3 positive regulation of angiogenesis GO:0045766 9.62 ACVRL1 ENG
4 negative regulation of cell migration GO:0030336 9.62 ACVRL1 ENG
5 positive regulation of endothelial cell proliferation GO:0001938 9.61 ACVRL1 BMPR2
6 vasculogenesis GO:0001570 9.61 ENG FOXF1
7 signal transduction by protein phosphorylation GO:0023014 9.6 ACVRL1 BMPR2
8 cellular response to BMP stimulus GO:0071773 9.59 ACVRL1 BMPR2
9 lung alveolus development GO:0048286 9.58 BMPR2 FOXF1
10 blood vessel remodeling GO:0001974 9.58 ACVRL1 BMPR2
11 outflow tract septum morphogenesis GO:0003148 9.56 BMPR2 ENG
12 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.55 ACVRL1 BMPR2
13 activin receptor signaling pathway GO:0032924 9.54 ACVRL1 BMPR2
14 endocardial cushion morphogenesis GO:0003203 9.52 ACVRL1 ENG
15 negative regulation of DNA biosynthetic process GO:2000279 9.51 ACVRL1 BMPR2
16 BMP signaling pathway GO:0030509 9.5 ACVRL1 BMPR2 ENG
17 lymphangiogenesis GO:0001946 9.49 ACVRL1 BMPR2
18 endocardial cushion development GO:0003197 9.48 BMPR2 FOXF1
19 artery development GO:0060840 9.46 ACVRL1 BMPR2
20 retina vasculature development in camera-type eye GO:0061298 9.43 ACVRL1 BMPR2
21 dorsal aorta morphogenesis GO:0035912 9.4 ACVRL1 ENG
22 lymphatic endothelial cell differentiation GO:0060836 9.37 ACVRL1 BMPR2
23 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.33 ACVRL1 BMPR2 ENG
24 endocardial cushion to mesenchymal transition GO:0090500 9.26 ACVRL1 ENG
25 positive regulation of BMP signaling pathway GO:0030513 9.13 ACVRL1 BMPR2 ENG
26 venous blood vessel development GO:0060841 8.8 ACVRL1 BMPR2 FOXF1

Molecular functions related to Pulmonary Hypertension, Familial Primary, 1, with or Without Hht according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 signal transducer, downstream of receptor, with serine/threonine kinase activity GO:0004702 9.37 ACVRL1 BMPR2
2 transforming growth factor beta binding GO:0050431 9.32 ACVRL1 ENG
3 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 ACVRL1 BMPR2
4 activin binding GO:0048185 9.16 ACVRL1 ENG
5 BMP binding GO:0036122 8.96 BMPR2 ENG
6 BMP receptor activity GO:0098821 8.62 ACVRL1 BMPR2

Sources for Pulmonary Hypertension, Familial Primary, 1, with or Without Hht

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....