Pulmonary Hypertension disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PLM037 MIFTS: 73	Pulmonary Hypertension Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Pulmonary Hypertension

MalaCards integrated aliases for Pulmonary Hypertension:

Name: Pulmonary Hypertension ³⁹ ¹¹ ⁷⁵ ⁴¹ ² ¹⁴ ³⁶ ⁶³ ⁷¹ ³³

Primary Pulmonary Hypertension ³⁹ ¹¹ ⁷⁵ ²⁸ ⁵³ ⁵ ¹⁴ ³¹

Idiopathic Pulmonary Arterial Hypertension ⁷¹

Idiopathic Pulmonary Hypertension ⁷¹

Hypertension, Pulmonary, Primary ³⁸

Pulmonary Htn - [hypertension] ³³

Hypertension, Pulmonary ⁴³

Hypertension Pulmonary ⁵³

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the circulatory system

Pulmonary heart disease and diseases of pulmonary circulation

Other pulmonary heart diseases

Primary pulmonary hypertension

ICD11: ³³

Diseases of the circulatory system

Pulmonary heart disease or diseases of pulmonary circulation

Pulmonary hypertension

Pulmonary hypertension due to left heart disease

Pulmonary hypertension due to lung disease or hypoxia

Pulmonary hypertension with multifactorial mechanism

Pulmonary hypertension, unspecified

External Ids:

Disease Ontology ¹¹ DOID:14557 DOID:6432

ICD9CM ³⁴ 416.0

MeSH ⁴³ D006976

NCIt ⁴⁹ C3120

SNOMED-CT ⁶⁸ 155328008 26174007

ICD10 ³¹ I27.0

ICD11 ³³ 1496633964 1496633964/unspecified 1639609522 more

UMLS ⁷¹ C0020542 C0152171 C3203102

Sources

Summaries for Pulmonary Hypertension

MedlinePlus: ⁴¹ Pulmonary hypertension (PH) is high blood pressure in the arteries to your lungs. It is a serious condition. If you have it, the blood vessels that carry blood from your heart to your lungs become hard and narrow. Your heart has to work harder to pump the blood through. Over time, your heart weakens and cannot do its job and you can develop heart failure. Symptoms of PH include: Shortness of breath during routine activity, such as climbing two flights of stairs Tiredness Chest pain A racing heartbeat Pain on the upper right side of the abdomen Decreased appetite As PH worsens, you may find it hard to do any physical activities. There are two main kinds of PH. One runs in families or appears for no known reason. The other kind is related to another condition, usually heart or lung disease. There is no cure for PH. Treatments can control symptoms. They involve treating the heart or lung disease, medicines, oxygen, and sometimes lung transplantation. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary: Pulmonary Hypertension, also known as primary pulmonary hypertension, is related to pulmonary hypertension, primary, 1 and pulmonary venoocclusive disease, and has symptoms including hemoptysis, angina pectoris and dyspnea. An important gene associated with Pulmonary Hypertension is BMPR2 (Bone Morphogenetic Protein Receptor Type 2), and among its related pathways/superpathways are MicroRNAs in cardiomyocyte hypertrophy and miRNAs involved in DNA damage response. The drugs Bupivacaine and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include Lung, heart and endothelial, and related phenotypes are muscle and cardiovascular system

CDC: ² Pulmonary hypertension occurs when the pressure in the blood vessels leading from the heart to the lungs is too high. The heart pumps blood from the right ventricle to the lungs to get oxygen. Because the blood does not have to travel very far, the pressure in this side of the heart and in the artery taking blood from the right ventricle to the lungs is normally low-normally much lower than systolic or diastolic blood pressure. When the pressure in this artery gets too high, the arteries in the lungs can narrow and then the blood does not flow as well as it should resulting in less oxygen in the blood

PubMed Health : ⁶³ Pulmonary hypertension: Pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), or PH, is increased pressure in the pulmonary arteries. These arteries carry blood from your heart to your lungs to pick up oxygen. PH causes symptoms such as shortness of breath during routine activity (for example, climbing two flights of stairs), tiredness, chest pain, and a racing heartbeat. As the condition worsens, its symptoms may limit all physical activity.

Disease Ontology ¹¹ Pulmonary hypertension: A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.

Primary pulmonary hypertension: A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.

Wikipedia: ⁷⁵ Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure in the arteries of the... more...

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Related Diseases for Pulmonary Hypertension

Diseases in the Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 1	Pulmonary Hypertension, Primary, 5
Pulmonary Hypertension, Primary, 2	Pulmonary Hypertension, Primary, 3
Pulmonary Hypertension, Primary, 4	Rare Pulmonary Hypertension

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

(show top 50) (show all 1418)

#	Related Disease	Score	Top Affiliating Genes
1	pulmonary hypertension, primary, 1	33.9	KCNK3 BMPR2 ACVRL1
2	pulmonary venoocclusive disease	33.3	PDE5A NPPB KCNK3 EDNRA EDN1 CAV1
3	persistent fetal circulation syndrome	33.2	PDE5A MIR21 EDNRA EDN1
4	patent ductus arteriosus 1	32.9	PDE5A NPPB EDN1 BMPR2
5	diaphragmatic hernia, congenital	32.9	PDE5A EDNRA EDN1 BMPR2
6	heritable pulmonary arterial hypertension	32.8	KCNK3 CAV1 BMPR2 ACVRL1
7	hypertension, essential	32.8	PDE5A NPPB NPPA MIR22 MIR21 MIR17
8	interstitial lung disease 2	32.7	MIR21 MIR17 EDN1 CAV1 BMPR2
9	pulmonary fibrosis	32.7	MIR21 EDNRA EDN1 CAV1
10	pulmonary valve insufficiency	32.6	PDE5A NPPB KCNK3 EDN1 BMPR2
11	vascular disease	32.5	SLC6A4 PDE5A MIR21 EDN1 BMPR2 ACVRL1
12	tricuspid valve insufficiency	32.5	PDE5A NPPB EDN1 BMPR2
13	lung disease	32.4	NPPB MIR21 MIR17 EDN1 ADM
14	heart disease	32.3	SLC6A4 PDE5A NPPB NPPA MIR21 MIR17
15	heart septal defect	32.3	NPPB NPPA MIR17
16	atrial heart septal defect	32.3	NPPB NPPA EDN1 BMPR2
17	mitral valve stenosis	32.2	NPPB NPPA EDN1
18	liver cirrhosis	32.2	NPPA MALAT1 EDN1 ADM
19	pulmonary disease, chronic obstructive	32.2	PDE5A NPPB MIR21 MIR17
20	congestive heart failure	32.1	PDE5A NPPB NPPA EDNRA EDN1 ADM
21	pulmonary embolism	32.1	TNXA PDE5A NPPB
22	sleep apnea	32.0	SLC6A4 NPPB KCNK3 EDN1
23	portal hypertension	32.0	EDNRA EDN1 BMPR2
24	pulmonary edema	32.0	NPPB NPPA EDN1
25	ventricular septal defect	31.9	NPPB NPPA MIR17
26	patent foramen ovale	31.9	PDE5A NPPB NPPA EDNRA EDN1 BMPR2
27	meconium aspiration syndrome	31.9	PDE5A EDN1 CPS1
28	mitral valve disease	31.8	NPPB NPPA MIR21 EDN1
29	limited scleroderma	31.7	PDE5A EDNRA EDN1 CAV1
30	connective tissue disease	31.6	MIR22 MIR21 MIR20A MIR17 EDNRA EDN1
31	chronic kidney disease	31.6	NPPB NPPA MIR21 EDN1 ADM
32	cardiogenic shock	31.5	NPPB NPPA
33	hereditary hemorrhagic telangiectasia	31.5	KCNK3 BMPR2 ACVRL1
34	kidney disease	31.5	NPPB NPPA MIR21 EDNRA EDN1 ADM
35	hepatopulmonary syndrome	31.5	EDNRA EDN1 CAV1 BMPR2 ACVRL1
36	aortic valve disease 2	31.4	NPPB NPPA MIR22 MIR21 MIR17
37	systolic heart failure	31.4	PDE5A NPPB EDN1 ADM
38	diastolic heart failure	31.4	PDE5A NPPB EDN1
39	dilated cardiomyopathy	31.4	NPPB NPPA MIR21 MIR17 EDNRA EDN1
40	heart valve disease	31.4	NPPB NPPA MIR22 MIR21 MIR17 EDN1
41	impotence	31.3	PDE5A EDNRA EDN1
42	tetralogy of fallot	31.3	NPPB NPPA EDN1 ADM
43	oligohydramnios	31.3	NPPB EDN1 ADM
44	pre-eclampsia	31.2	PDE5A NPPA MALAT1 EDN1 ADM
45	chronic pulmonary heart disease	31.1	SLC6A4 PDE5A NPPB KCNK3 EDNRA EDN1
46	hypertrophic cardiomyopathy	31.1	NPPB NPPA MIR22 MIR21 MIR17 EDN1
47	hypertensive heart disease	31.1	NPPB NPPA EDN1
48	peripheral vascular disease	31.1	PDE5A EDN1 ACVRL1
49	lipoprotein quantitative trait locus	31.0	PDE5A NPPB NPPA MIR22 MIR21 MIR17
50	aortic valve disease 1	31.0	NPPB MIR21 MIR17 EDN1

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

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Symptoms & Phenotypes for Pulmonary Hypertension

UMLS symptoms related to Pulmonary Hypertension:

hemoptysis; angina pectoris; dyspnea; chest pain; edema; snoring; coughing

MGI Mouse Phenotypes related to Pulmonary Hypertension:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.65	ACVRL1 ADM BMPR2 CAV1 EDN1 EDNRA
2	cardiovascular system	MP:0005385	9.36	ACVRL1 ADM BMPR2 CAV1 EDN1 EDNRA

Sources

Drugs & Therapeutics for Pulmonary Hypertension

PubMed Health treatment related to Pulmonary Hypertension: ⁶³

Pulmonary hypertension (PH) has no cure. However, treatment may help relieve symptoms and slow the progress of the disease. PH is treated with medicines, procedures, and other therapies . Treatment will depend on what type of PH you have and its severity. (For more information, go to "Types of Pulmonary Hypertension." )

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

(show top 50) (show all 316)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Ranolazine

Approved, Investigational

Phase 4

142387-99-3, 95635-55-5

56959

Reviparin

Approved, Investigational

Phase 4

9041-08-1

Sevoflurane

Approved, Vet_approved

Phase 4

28523-86-6

5206

Isoflurane

Approved, Vet_approved

Phase 4

26675-46-7

3763

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Silver sulfadiazine

Approved, Vet_approved

Phase 4

22199-08-2

441244

Racepinephrine

Approved, Vet_approved

Phase 4

51-43-4, 329-65-7

838 5816

Racephedrine

Approved, Experimental

Phase 4

299-42-3, 90-82-4, 90-81-3

5032 9294 7028

Phenylephrine

Approved

Phase 4

59-42-7

6041

Oxymetazoline

Approved, Investigational

Phase 4

1491-59-4

4636

Methazolamide

Approved

Phase 4

554-57-4

5353756 4100

Clevidipine

Approved, Investigational

Phase 4

167221-71-8

153994

Plasminogen

Approved

Phase 4

9001-91-6

Heparin, bovine

Approved, Investigational, Withdrawn

Phase 4

9005-49-6

22833565 9812414 772

Spironolactone

Approved

Phase 4

1952-01-7, 52-01-7

5833

Epoprostenol

Approved

Phase 4

61849-14-7, 35121-78-9

5282411

Iloprost

Approved, Investigational

Phase 4

78919-13-8

6443959 6435378 5311181

Macitentan

Approved

Phase 4

441798-33-0

16004692

Nebivolol

Approved, Investigational

Phase 4

152520-56-4, 99200-09-6, 118457-14-0

71301

Acetazolamide

Approved, Vet_approved

Phase 4

59-66-5, 1424-27-7

1986

Arginine

Approved, Investigational, Nutraceutical

Phase 4

74-79-3

6322

Beraprost

Investigational

Phase 4

88430-50-6

2352 5282428

Tezosentan

Investigational

Phase 4

180384-57-0

Analgesics, Opioid

Phase 4

Narcotics

Phase 4

Sodium Channel Blockers

Phase 4

Platelet Aggregation Inhibitors

Phase 4

Anesthetics

Phase 4

Cardiotonic Agents

Phase 4

Adrenergic beta-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Adrenergic Agents

Phase 4

Heparin, Low-Molecular-Weight

Phase 4

Hemostatics

Phase 4

Coagulants

Phase 4

Arginine Vasopressin

Phase 4

Vasopressins

Phase 4

Vasoconstrictor Agents

Phase 4

Adrenergic alpha-Agonists

Phase 4

Sympathomimetics

Phase 4

Epinephryl borate

Phase 4

Mydriatics

Phase 4

Nasal Decongestants

Phase 4

Calcium heparin

Phase 4

Tissue Plasminogen Activator

Phase 4

Thromboplastin

Phase 4

Hormone Antagonists

Phase 4

Diuretics, Potassium Sparing

Phase 4

diuretics

Phase 4

Interventional clinical trials:

(show top 50) (show all 1215)

#	Name	Status	NCT ID	Phase	Drugs
1	Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study.	Unknown status	NCT00637065	Phase 4	Bosentan;Placebo
2	A Double Blind, Placebo Controlled Trial of Oral Riociguat for Sarcoidosis Associated Pulmonary Hypertension	Unknown status	NCT02625558	Phase 4	Riociguat;Placebo
3	Long Acting Phosphodiesterase 5 Inhibitors as Add-on Therapy for Patients With Pulmonary Hypertension Treated With Prostanoids.	Unknown status	NCT00705588	Phase 4	Tadalafil;Vardenafil
4	Comparative Effect of Combined High Spinal and General Anaesthesia With General Anaesthesia Alone On Right Ventricular Function In Patients With Mitral Valvular Disease With Pulmonary Hypertension	Unknown status	NCT03013075	Phase 4	Bupivacaine heavy and Morphine;General Anesthetics
5	Inhaled Iloprost for Disproportionate Pulmonary Hypertension in Chronic Obstructive Pulmonary Disease	Unknown status	NCT01116063	Phase 4	Inhaled iloprost
6	Vardenafil as add-on Therapy for Patients With Pulmonary Hypertension Treated With Inhaled Iloprost	Unknown status	NCT01649739	Phase 4	Levitra
7	Comparison of Efficacy Different Treatment Regimens in Pulmonary Hypertension Secondary to Lung Disease and or Hypoxia	Unknown status	NCT01449253	Phase 4	Sildenafil;Bosentan
8	Patients With Pulmonary Hypertension or Interstitial Lung Disease Travelling to Altitude - Effect of Nocturnal Oxygen Therapy on Breathing and Sleep	Unknown status	NCT02150616	Phase 4	Oxygen;Sham oxygen (room air)
9	Upfront Riociguat and Ambrisentan Combination Therapy for Pulmonary Arterial Hypertension: A Safety and Efficacy Pilot Study	Unknown status	NCT03809156	Phase 4	Riociguat Oral Product
10	Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension	Unknown status	NCT01468571	Phase 4	Spironolactone;Placebo
11	Randomized Controlled Trial to Compare the Efficacy of Combination Therapy vs Monotherapy for Pulmonary Arterial Hypertension in Systemic Sclerosis	Unknown status	NCT03053739	Phase 4	Sildenafil 20mg and Bosentan 62.5mg;Sildenafil 20mg and Placebo
12	Hemodynamic Evaluation of Patients With Pulmonary Arterial Hypertension. Response to Sildenafil Treatment	Unknown status	NCT00483626	Phase 4	oral sildenafil
13	Raising the Bars in the Treatment of Pulmonary Arterial Hypertension: Goal Oriented Strategy to Preserve Ejection Fraction Trial	Unknown status	NCT03236818	Phase 4	ERA and PDE-5I (Sildenafil, Tadalafil, Bosentan, Macitentan)
14	Intravenous Iron Treatment In Iron Deficient Patients With Idiopathic Pulmonary Arterial Hypertension	Unknown status	NCT01288651	Phase 4	Ferricarboxymaltose
15	A Randomized, Double-blind, Placebo Controlled, Multi-center Study to Assess the Effect of Ranolazine on Outcomes in Subjects With Pulmonary Hypertension and Right Ventricular Dysfunction Accompanied by a Comparative Study of Cellular Metabolism in Subjects With Pulmonary Hypertension With and Without Right Ventricular Dysfunction	Completed	NCT01839110	Phase 4	Ranolazine;Placebo
16	Proof of Concept Study of Ranolazine in the Treatment of Pulmonary Hypertension Associated With Diastolic Left Ventricular Dysfunction	Completed	NCT02133352	Phase 4	Ranolazine
17	Comparison of Thrombgolytic and Anticoagulation Therapy in Submassive Pulmonary Embolism in Context of Pulmonary Hypertension, Right Heart Failure and Patient Functional Ability	Completed	NCT02132689	Phase 4	Actilyse (Thrombolytic therapy);Heparine (Standard anticoagulation therapy)
18	Inhaled Iloprost for Sarcoidosis Associated Pulmonary Hypertension	Completed	NCT00403650	Phase 4	Iloprost
19	Vasoreactivity Testing With Intravenous Sildenafil in Patients With Precapillary Pulmonary Hypertension (Treatment Optimisation Study)	Completed	NCT01889966	Phase 4	Sildenafil
20	Acute Effects of a Single Dose of Sildenafil (20mg/40mg) on Pulmonary Haemodynamics and Gas Exchange at Rest and During Exercise in COPD Patients With Pulmonary Hypertension	Completed	NCT00491803	Phase 4	Sildenafil
21	Acute Effect of Recombinant Human Brain Natriuretic Peptide in Patients With Pulmonary Hypertension Associated With Acute Exacerbation of Chronic Pulmonary Disease	Completed	NCT02742909	Phase 4	rhBNP;placebo
22	Patients With Pulmonary Hypertension or Interstitial Lung Disease Travelling to Altitude - Effect of Nocturnal Oxygen Therapy on Exercise Performance	Completed	NCT02143687	Phase 4	Oxygen;Sham oxygen (room air)
23	A Randomized, Double-blind, Placebo Controlled, Multi-center Study to Assess the Effect of Ranolazine in Subjects With Pulmonary Hypertension and Right Ventricular Dysfunction Using Cardiovascular MRI	Completed	NCT02829034	Phase 4	Ranolazine;Placebo
24	Phase IV Study of Chronic Infusional Epoprostenol for Severe Primary Pulmonary Hypertension	Completed	NCT00004754	Phase 4	epoprostenol
25	A Randomized, Placebo Controlled, Single Center Clinical Trial for Evaluation of Efficacy and Safety of Sildenafil Administration in the Cardiac ICU Following Mitral Valve Surgery in Patients With Pulmonary Hypertension	Completed	NCT02378649	Phase 4	Sildenafil;Placebo
26	Phase IV Study on the Effects of Sildenafil in Combination With Pulmonary Rehabilitation Program on Exercise Tolerance in Patients With COPD and Pulmonary Hypertension	Completed	NCT01055405	Phase 4	Sildenafil
27	Exercise Induced Pulmonary Hypertension in Systemic Sclerosis and Treatment With Ambrisentan: A Prospective Single Center, Open Label, Pilot Study	Completed	NCT01051960	Phase 4	Ambrisentan
28	Oral Sildenafil in Persistent Pulmonary Hypertension of Neonates Secondary to Meconium Aspiration Syndrome: A Randomized Placebo Controlled Trial	Completed	NCT01757782	Phase 4	Oral Sildenafil;Placebo (distilled water)
29	Randomised Cross-over Pilot Study to Determine the Effects of Isoflurane and Propofol on Pulmonary Vascular Resistance in Children With Pulmonary Hypertension.	Completed	NCT01212523	Phase 4	propofol and isoflurane
30	Safely Change From Bosentan to Ambrisentan in Pulmonary Hypertension	Completed	NCT01330108	Phase 4	ambrisentan
31	Echo Study - Characterization of LV Strain Patterns in Patients With Mildly Elevated PCWP and Pulmonary Hypertension	Completed	NCT01800292	Phase 4	sildenafil
32	Sildenafil for Improving Outcomes After Valvular Correction	Completed	NCT00862043	Phase 4	Sildenafil Citrate;Placebo
33	Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) in Patients With Stable Pulmonary Arterial Hypertension: Safety, Efficacy and Treatment Satisfaction	Completed	NCT00373360	Phase 4	treprostinil sodium
34	A Multicenter, Randomized, Parallel Placebo-Controlled Study of the Safety and Efficacy of Subcutaneous Remodulin® Therapy After Transition From Flolan® in Patients With Pulmonary Arterial Hypertension	Completed	NCT00058929	Phase 4	treprostinil sodium
35	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
36	Natrecor® (Nesiritide) as a Nitric Oxide Sparing Agent in Patients Undergoing Lung Transplantation	Completed	NCT00205426	Phase 4	Natrecor
37	A Phase 4, Placebo Controlled, Single-blind, Cross-over Safety Study to Evaluate the Effect of Optison on Pulmonary Artery Systolic Pressure (PASP) and Pulmonary Vascular Resistance (PVR) as Measured by Right Heart Catheterization	Completed	NCT00878878	Phase 4	Optison (Perflutren Protein-Type A Microspheres Injectable Suspension);Dextrose
38	Efficacy of Beraprost in Lowering Pulmonary Arterial Pressure in Pulmonary Arterial Hypertension Children Associated With Left to Right Shunt Congenital Heart Defect	Completed	NCT03431649	Phase 4	Beraprost Sodium;Sildenafil Citrate
39	A Multi-center, Double-blind, Placebo-controlled Phase 4 Study in Patients With Pulmonary Arterial Hypertension to Assess the Effect of Selexipag on Daily Life Physical Activity and Patient's Self-reported Symptoms and Their Impacts	Completed	NCT03078907	Phase 4	Selexipag;Placebo
40	TRUST-2: An Open-label Continuation Trial of the Safety and Efficacy of Intravenous Remodulin® in Patients in India With Pulmonary Arterial Hypertension (PAH)	Completed	NCT03055221	Phase 4	Intravenous Treprostinil
41	COMPASS 3: An Open-label, Multi-Center Study Employing a Targeted 6-Minute Walk Test (6-MWT) Distance Threshold Approach to Guide Bosentan-Based Therapy and to Assess the Utility of Magnetic Resonance Imaging (MRI) on Cardiac Remodeling	Completed	NCT00433329	Phase 4	Bosentan;Sildenafil
42	An Open Label, Multi-center Study Evaluating the Safety of Long-term Inhaled Treprostinil Administration Following Transition From Inhaled Ventavis® (Iloprost) in Subjects With Pulmonary Arterial Hypertension.	Completed	NCT00741819	Phase 4	Inhaled treprostinil
43	An Open-label, Multicenter Study of Ambrisentan and a Phosphodiesterase Type-5 Inhibitor Combination Therapy in Subjects With Pulmonary Arterial Hypertension Who Have Demonstrated a Sub-Optimal Response to a Phosphodiesterase Type-5 Inhibitor	Completed	NCT00617305	Phase 4	Ambrisentan;Placebo;Sildenafil;Tadalafil
44	An Open-label Extension of Study AC-066A401 Investigating the Safety and Tolerability of ACT-385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH)	Completed	NCT01105117	Phase 4	ACT-385781A (Actelion Epoprostenol);Flolan®
45	A Phase IV, Open-label, Randomized, Multicenter Study of the Safety, Tolerability,and Pharmacokinetics of ACT- 385781A Compared to Flolan® in Injectable Prostanoid Treatment-naïve Patients With Pulmonary Arterial Hypertension (PAH)	Completed	NCT01105091	Phase 4	ACT-385781A (Actelion Epoprostenol);Flolan®
46	A Prospective, Multicenter, Single-arm, Open-label, Phase 4 Study to Evaluate the Effects of Macitentan on Right vEntricular Remodeling in Pulmonary ArterIal hypeRtension Assessed by Cardiac Magnetic Resonance Imaging	Completed	NCT02310672	Phase 4	Macitentan
47	A Multinational, Multicentre, Randomized, Double-blind Study To Assess The Efficacy And Safety Of Oral Sildenafil 20mg Tid Or Placebo When Added To Bosentan In The Treatment Of Subjects, Aged 18 Years And Above, With Pulmonary Arterial Hypertension (Pah)	Completed	NCT00323297	Phase 4	Bosentan;Sildenafil Citrate
48	A Multi-center, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effects of Tracleer (Bosentan) on Oxygen Saturation and Cardiac Hemodynamics in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology	Completed	NCT00317486	Phase 4	bosentan
49	Effects of Combination of Bosentan and Sildenafil Versus Sildenafil Monotherapy on Morbidity and Mortality in Symptomatic Patients With Pulmonary Arterial Hypertension - A Multicenter, Double-blind, Randomized, Placebo-controlled, Parallel Group, Prospective, Event Driven Phase IV Study	Completed	NCT00303459	Phase 4	bosentan;placebo
50	A Multi-Center, Open-Label Extension Study to Protocol AC-052-405 to Evaluate the Safety and Efficacy of Tracleer (Bosentan) in Patients With Pulmonary Arterial Hypertension Related to Eisenmenger Physiology	Completed	NCT00367770	Phase 4	Tracleer®

Search NIH Clinical Center for Pulmonary Hypertension

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Alprostadil

bosentan

Epoprostenol

Epoprostenol Sodium

Hydralazine

Hydralazine Hydrochloride

Nitroglycerin

Treprostinil

Cell-based therapeutics:

Data from LifeMap, the Embryonic Development and Stem Cells Database

Read about Pulmonary Hypertension cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Pulmonary Hypertension:

	Endothelial progenitor cells for pulmonary hypertension
	Endothelial progenitors for treatment of idiopathic pulmonary arterial hypertension

Embryonic/Adult Cultured Cells Related to Pulmonary Hypertension:

	eNOS-transfected endothelial progenitor cells PMIDs: 21653527 20117135
	eNOS-transfected endothelial progenitor cells PMIDs: 21653527 20117135
	Peripheral blood-derived endothelial progenitor cells PMIDs: 17418297

Cochrane evidence based reviews: hypertension, pulmonary

Sources

Genetic Tests for Pulmonary Hypertension

Genetic tests related to Pulmonary Hypertension:

#	Genetic test	Affiliating Genes
1	Primary Pulmonary Hypertension ²⁸

Sources

Anatomical Context for Pulmonary Hypertension

Organs/tissues related to Pulmonary Hypertension:

MalaCards : Heart, Lung, Endothelial, Smooth Muscle, Brain, Liver, Bone Marrow

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pulmonary Hypertension:

#	Tissue Anatomical CompartmentCell	Relevance
1	Lung Pulmonary Capillary Plexus	Affected by disease

Sources

Publications for Pulmonary Hypertension

Articles related to Pulmonary Hypertension:

(show top 50) (show all 30748)

#	Title	Authors	PMID	Year
1	Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. ⁵³ ⁶² ⁵	Sztrymf B...Humbert M	18356561	2008
2	Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension. ⁵³ ⁶² ⁵	Cogan JD...Loyd JE	15775752	2005
3	BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. ⁵³ ⁶² ⁵	Morisaki H...Morisaki T	15146475	2004
4	BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. ⁵³ ⁶² ⁵	Machado RD...Nichols WC	11115378	2001
5	Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. ⁵³ ⁶² ⁵	International PPH Consortium...Trembath RC	10973254	2000
6	Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. ⁵³ ⁶² ⁵	Deng Z...Knowles JA	10903931	2000
7	Interleukin-6 modulates the expression of the bone morphogenic protein receptor type II through a novel STAT3-microRNA cluster 17/92 pathway. ⁵³ ⁶² ⁴⁶	Brock M...Huber LC	19390056	2009
8	Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. ⁶² ⁵	Rudarakanchana N...Morrell NW	12045205	2002
9	Clinical evaluation of nebulized verapamil in out-patients with pulmonary hypertension secondary to chronic obstructive pulmonary disease. ⁶² ⁴¹	Fahimi F...Esmaeili A	36336743	2022
10	The Effects of Sequential Ventilation Therapy on Blood Gas Indexes, Pulmonary Function Indexes, Clinical Efficacy, and Safety in Patients with Severe Cor Pulmonale. ⁶² ⁴¹	Cheng J...Zhao N	36277594	2022
11	Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients. ⁵	van den Heuvel LM...Houweling AC	33066286	2020
12	Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. ⁵	Zhu N...Nichols WC	31727138	2019
13	Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension. ⁵	Wang XJ...Jing ZC	30578397	2019
14	Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. ⁵	Yang H...Zhou Z	29743074	2018
15	A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension. ⁵	Higasa K...Matsuda F	28388887	2017
16	Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension. ⁵	Navas P...Escribano Subias P	27453251	2016
17	Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. ⁵	Machado RD...Grunig E	26387786	2015
18	Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2. ⁵	Girerd B...Montani D	25429696	2015
19	Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension. ⁵	John A...Ali BR	25688877	2015
20	Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. ⁵	Chida A...Nakanishi T	22632830	2012
21	Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients. ⁵	Liu D...Jing ZC	21737554	2012
22	Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8. ⁵	Drake KM...Aldred MA	21920918	2011
23	Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. ⁵	Pfarr N...Grunig E	21801371	2011
24	Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension. ⁵	Li W...Morrell NW	21030519	2010
25	Susceptibility to chronic thromboembolic pulmonary hypertension may be conferred by miR-759 via its targeted interaction with polymorphic fibrinogen alpha gene. ⁶² ⁴⁶	Chen Z...Kimura A	20677013	2010
26	Dynamic changes in lung microRNA profiles during the development of pulmonary hypertension due to chronic hypoxia and monocrotaline. ⁶² ⁴⁶	Caruso P...Baker AH	20110569	2010
27	Genetics and genomics of pulmonary arterial hypertension. ⁵	Machado RD...Chung WK	19555857	2009
28	Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. ⁵	Rosenzweig EB...Barst RJ	18503968	2008
29	High resolution structures of the bone morphogenetic protein type II receptor in two crystal forms: implications for ligand binding. ⁵	Mace PD...Cutfield SM	17094948	2006
30	High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. ⁵	Cogan JD...Nichols WC	16728714	2006
31	Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. ⁵	Machado RD...Trembath RC	16429395	2006
32	BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. ⁵	Aldred MA...Trembath RC	16429403	2006
33	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
34	Randomized Clinical and Biochemical Study Comparing the Effect of L-arginine and Sildenafil in Beta Thalassemia Major Children With High Tricuspid Regurgitant Jet Velocity. ⁴¹	El-Khateeb E...Mostafa TM	36282078	2022
35	Role of urotensin II in health and disease. ⁵³ ⁶²	Ross B...Giaid A	20421634	2010
36	Placenta growth factor in sickle cell disease: association with hemolysis and inflammation. ⁵³ ⁶²	Brittain JE...Ataga KI	20040765	2010
37	Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension. ⁵³ ⁶²	Hamid R...Cogan JD	20095988	2010
38	Emerging therapies for the treatment of pulmonary hypertension. ⁵³ ⁶²	Stenmark KR...Rabinovitch M	20216170	2010
39	Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease. ⁵³ ⁶²	Ulrich S...Speich R	19844076	2010
40	Genetic polymorphisms of the serotonin transporter, but not the 2a receptor or nitric oxide synthetase, are associated with pulmonary hypertension in chronic obstructive pulmonary disease. ⁵³ ⁶²	Ulrich S...Speich R	19556740	2010
41	Phosphodiesterase type 5 inhibitors for high-altitude pulmonary hypertension: a meta-analysis. ⁵³ ⁶²	Jin B...Shi HM	20225909	2010
42	Pulmonary hemodynamic response to acute combination and monotherapy with sildenafil and brain natriuretic peptide in rats with monocrotaline-induced pulmonary hypertension. ⁵³ ⁶²	Carlino C...Demarco VG	19996941	2010
43	B-type natriuretic peptide utilization as an adjunct to management in a case of conjoined twins with pulmonary hypertension. ⁵³ ⁶²	Milisavljevic V...Le C	20085871	2010
44	GDF5 and BMP2 inhibit apoptosis via activation of BMPR2 and subsequent stabilization of XIAP. ⁵³ ⁶²	Liu Z...Braun T	19782107	2009
45	Brain natriuretic peptide in pulmonary arterial hypertension: biomarker and potential therapeutic agent. ⁵³ ⁶²	Casserly B...Klinger JR	20054445	2009
46	Dichloroacetate treatment partially regresses established pulmonary hypertension in mice with SM22alpha-targeted overexpression of the serotonin transporter. ⁵³ ⁶²	Guignabert C...Eddahibi S	19679640	2009
47	Nitric oxide synthases in infants and children with pulmonary hypertension and congenital heart disease. ⁵³ ⁶²	Hoehn T...Wadsworth RM	19912632	2009
48	Expression of vasoactive intestinal peptide and related receptors in overcirculation-induced pulmonary hypertension in piglets. ⁵³ ⁶²	Vuckovic A...Naeije R	19581838	2009
49	A novel insight into the mechanism of pulmonary hypertension involving caveolin-1 deficiency and endothelial nitric oxide synthase activation. ⁵³ ⁶²	Zhao YY...Malik AB	20382348	2009
50	Brain natriuretic peptide in chronic thromboembolic pulmonary hypertension. ⁵³ ⁶²	Miniati M	19468826	2009

Sources

Genes for Pulmonary Hypertension

Genes related to Pulmonary Hypertension (4 elite genes):

(show top 50) (show all 125)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	502.11	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	10903931 10973254 11115378 (more) 12045205 15775752 16429395 16728714 17094948 18356561 18503968 19555857 21030519 21737554 21801371 21920918 22632830 25429696 25688877 26387786 28388887 29743074 30578397 31727138 15146475 16199547 16429403 27453251 33066286 12571257 11940546 19390056 15286002 16840720 12384956 15466636 17065373 20095988 16717148 17641158 19844076 17287300 11753283 16361357 12358323 11484689 15170098 18283205 15615096 18552156 18202349 11015450 19786120 11484688 14985116 14583445 12358355 12221115 14516151 11502704 19782107 12963706 15295086 15965979 18386374 15049592 15736264 16282533 16271518 12139571 17336165 15055271 12415595 12821254 11869166
	BMPR2::MIR17 ⁴⁶	MIR17 Macro RNA (hsa-miR-17-5p) targets BMPR2
	BMPR2::MIR20A ⁴⁶	MIR20A Macro RNA (hsa-miR-20a) targets BMPR2
2	MIR17	MicroRNA 17	RNA Gene	365.25	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	19390056
3	MIR759	MicroRNA 759	RNA Gene	361.76	Causal ⁴⁶ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	20677013
4	MIR20A	MicroRNA 20a	RNA Gene	361.57	Causal ⁴⁶ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	19390056
5	MALAT1	Metastasis Associated Lung Adenocarcinoma Transcript 1	RNA Gene	150	Experimental evidence: Regulation ³⁷	27362960
6	TNXA	Tenascin XA (Pseudogene)	Pseudogene	150	Experimental evidence: Regulation ³⁷	25522749
7	MIR21	MicroRNA 21	RNA Gene	67.25	Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	20110569
8	MIR22	MicroRNA 22	RNA Gene	57.81	Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴	20110569
9	MIR451A	MicroRNA 451a	RNA Gene	53.04	Unspecified ⁴⁶ DISEASES inferred ¹⁴	20110569
10	EDN1	Endothelin 1	Protein Coding	41.52	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12644876 1994793 16193207 (more) 8430638 7904941 11762997 10976782 11713135 10369113 10385501 15633133 8739884 8594905 16864942 10625089 19632577 8497283 8855433 7705179 11887493 9628300 11317642 11902294 9054770 14569522 12788984 7653485 12391278 8099638 9539476 7805238 9861298 7788905 10768278 9918748 20481052 10585047 9535437 7584571 11121812 11078436 9311502 9108859 8256914 8342919 7495344 16327149 9918974 11480254 10364736 9741571 9059544 8865978 8320603 1735147 17641401 15938827 15751522 12423564 15470654 9257140 9275630 11326879 10690304 18297323 18279809 12970246 10503184 8361190 16982943 9736439 9595502 7836103 8155168 8247067 8176102 18682983 18567602 17897273 16219361 15576275 12934401 12628956 10099694 10598486 9918744 9853916 9794709 15753756 12193107 11725953 11447303 10794331 10678379 10543508 7794041 20040765 19544975 18814097 17583185 16919004 14526432 12407540 12224443 9730795 9104988 9066378 7800957
11	PDE5A	Phosphodiesterase 5A	Protein Coding	36.56	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19387454 17305584 19416631 (more) 15907910 15817798 17275845 16716091 17965319 20225909 16808546 18040025 16755146 18673225 19377497 16387564 20030481 17305582 15115189 12466227 18728748 18346713 17691956 16735511 16901064 19659904 16387567 19181291 16095162 19544683 18953278 18367027 18536732 15977967 16291042
12	ACVRL1	Activin A Receptor Like Type 1	Protein Coding	36.39	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11484689 16941203 18202349 (more) 14684682 17641482 11869166 15065824
13	NPPB	Natriuretic Peptide B	Protein Coding	36.32	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11255693 14998614 10952954 (more) 14652800 15369714 15516857 16676101 16415273 17228802 20481052 15087298 19098338 9426041 19247590 16822585 18793807 18599134 17975752 19459423 9704693 15520111 20054445 17643631 20519078 15486400 20085871 17296640 16242811 16183564 8736661 19468826 15175210 8703666 18229565 15805406 16148485 12828576 16478861 19996941 15965809 18158473 15302622 19626418 11020459 17786380 17345160 9277439
14	CAV1	Caveolin 1	Protein Coding	34.19	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19572028 18226570 20382348 (more) 18296499 19487814
15	SLC6A4	Solute Carrier Family 6 Member 4	Protein Coding	33.11	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16009349 11602617 11602621 (more) 11893722 12024106 12163129 16614302 15927991 15302679 16002749 14530202 16878724 16373820 19556740 16339917 16615363 10841509 19679640 15142967
16	CPS1	Carbamoyl-Phosphate Synthase 1	Protein Coding	31.31	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
17	ADM	Adrenomedullin	Protein Coding	30.59	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11729726 12630825 15797661 (more) 15501535 9857104 11802959 11083748 16787197 12750441 14691636 14526432 9725392 9185657 12835224 19337232 17902148 15047974 15459126 10352550 15506383 17251392 11115419 11083724 12947501 15886352 9404257 12147239 15997387
18	EDNRA	Endothelin Receptor Type A	Protein Coding	29.95	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7705179 9918974 11480254 (more) 11078412 16327149 9252542 16356485 12815302 7584571
19	NPPA	Natriuretic Peptide A	Protein Coding	29.79	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	2149841 11255693 7705179 (more) 15911074 8393399 9277439 8853287 9628300 11583893 10768278 7838802 8202879 7758554 9704693 8537207 12828576 9805912 9201062 9426041 8266977 1319811 16822585 10553928 8703666 8540445 20376887 11020459 1839131 9404133 11353932 1642247
20	KCNK3	Potassium Two Pore Domain Channel Subfamily K Member 3	Protein Coding	29.59	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
21	NOS3	Nitric Oxide Synthase 3	Protein Coding	29.53	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12904860 9950892 9727710 (more) 11371423 7540722 9815072 18790993 10197682 11509453 15531748 12547729 11045975 9771486 11411117 10373757 20382348 19572028 18953956 14966819 17715635 12720199 11343992 19487814 9395516 14766668 16520964 14682408 7477212 17827253 17878410 15498534 11770418
22	EDNRB	Endothelin Receptor Type B	Protein Coding	28.25	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18567602 11000137
23	EIF2AK4	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4	Protein Coding	27.76	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
24	BMPR1B	Bone Morphogenetic Protein Receptor Type 1B	Protein Coding	27.6	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
25	SMAD4	SMAD Family Member 4	Protein Coding	27.16	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
26	PTGIS	Prostaglandin I2 Synthase	Protein Coding	26	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10359560 11034952 15541968 (more) 15049720 15182267 12019369 10351941
27	THBD	Thrombomodulin	Protein Coding	25.87	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10666169 14555559 8757355 (more) 10690304 8694622 9622208 12644876 8797416
28	NFU1	NFU1 Iron-Sulfur Cluster Scaffold	Protein Coding	25.44	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
29	BMP2	Bone Morphogenetic Protein 2	Protein Coding	24.5	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18070548 19782107
30	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	23.81	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16373853 17045016 11590837
31	NOX4	NADPH Oxidase 4	Protein Coding	22.92	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17585072
32	DYNLT1	Dynein Light Chain Tctex-Type 1	Protein Coding	22.91	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications Proteins (show sections)
33	BMP6	Bone Morphogenetic Protein 6	Protein Coding	22.84	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11502704 11850348 11869166 (more) 11940546 12358355 11484689
34	VIP	Vasoactive Intestinal Peptide	Protein Coding	22.52	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19581838 16247516 2187492 (more) 16341283 18328650 18978135 16607490 14985177 19121410
35	ANGPT1	Angiopoietin 1	Protein Coding	22	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11436038 15678035 14759414 (more) 12571257 15466636 15615096 14512515 12750304
36	SFTPC	Surfactant Protein C	Protein Coding	21.76	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9506635 12896876
37	ACE	Angiotensin I Converting Enzyme	Protein Coding	21.5	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
38	RHOA	Ras Homolog Family Member A	Protein Coding	21.49	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16428270 19416631 15109211 (more) 19299501
39	BMP4	Bone Morphogenetic Protein 4	Protein Coding	20.79	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16373851 18539760
40	SARS2	Seryl-TRNA Synthetase 2, Mitochondrial	Protein Coding	20.73	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
41	BOLA3	BolA Family Member 3	Protein Coding	20.5	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
42	IL6	Interleukin 6	Protein Coding	20.41	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
43	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	20.14	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
44	PDE4A	Phosphodiesterase 4A	Protein Coding	20.13	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19386793 12466227
45	ELANE	Elastase, Neutrophil Expressed	Protein Coding	20.07	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9741572 2025078 14652649 (more) 20216170 1802432 10149847 11411116 14985558
46	SMAD9	SMAD Family Member 9	Protein Coding	19.97	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
47	HTR1B	5-Hydroxytryptamine Receptor 1B	Protein Coding	19.85	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	14516127
48	NOS2	Nitric Oxide Synthase 2	Protein Coding	19.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11371423 12904860 16169754 (more) 9486205 15942164 7584571 16456243 10666111 16050125 19912632 19273179 17965319 8947958 16553284 15364894 9612300 9815072 16553285 11509453
49	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	19.66	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12571257 15615096
50	REN	Renin	Protein Coding	19.54	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Pulmonary Hypertension

ClinVar genetic disease variations for Pulmonary Hypertension:

⁵ (show top 50) (show all 180)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BMPR2	NM_001204.7(BMPR2):c.120T>A (p.Tyr40Ter)	SNV	Pathogenic	1387800		GRCh37: 2:203329575-203329575 GRCh38: 2:202464852-202464852
2	BMPR2	NM_001204.7(BMPR2):c.1069del (p.Arg357fs)	DEL	Pathogenic	1379840		GRCh37: 2:203395618-203395618 GRCh38: 2:202530895-202530895
3	BMPR2	NM_001204.7(BMPR2):c.1332dup (p.Thr445fs)	DUP	Pathogenic	1424050		GRCh37: 2:203407086-203407087 GRCh38: 2:202542363-202542364
4	BMPR2	NM_001204.7(BMPR2):c.409dup (p.Thr137fs)	DUP	Pathogenic	1423038		GRCh37: 2:203332401-203332402 GRCh38: 2:202467678-202467679
5	BMPR2	NM_001204.7(BMPR2):c.1175del (p.Val392fs)	DEL	Pathogenic	1456366		GRCh37: 2:203397354-203397354 GRCh38: 2:202532631-202532631
6	BMPR2	NM_001204.7(BMPR2):c.1028dup (p.Asn343fs)	DUP	Pathogenic	1459305		GRCh37: 2:203395572-203395573 GRCh38: 2:202530849-202530850
7	BMPR2	NC_000002.11:g.(?_203241529)_(203242283_?)del	DEL	Pathogenic	1071169		GRCh37: 2:203241529-203242283 GRCh38:
8	BMPR2	NC_000002.11:g.(?_203329512)_(203332432_?)del	DEL	Pathogenic	1075069		GRCh37: 2:203329512-203332432 GRCh38:
9	BMPR2	NC_000002.11:g.(?_203378432)_(203379712_?)del	DEL	Pathogenic	1075070		GRCh37: 2:203378432-203379712 GRCh38:
10	BMPR2	NM_001204.7(BMPR2):c.346del (p.Cys116fs)	DEL	Pathogenic	1443330		GRCh37: 2:203332340-203332340 GRCh38: 2:202467617-202467617
11	BMPR2	NM_001204.7(BMPR2):c.135del (p.Gly45_Ile46insTer)	DEL	Pathogenic	1452839		GRCh37: 2:203329588-203329588 GRCh38: 2:202464865-202464865
12	BMPR2	NM_001204.7(BMPR2):c.443del (p.Asp148fs)	DEL	Pathogenic	836469	rs1687663690	GRCh37: 2:203378466-203378466 GRCh38: 2:202513743-202513743
13	BMPR2	NM_001204.7(BMPR2):c.142dup (p.Glu48fs)	DUP	Pathogenic	838701	rs1692288591	GRCh37: 2:203329596-203329597 GRCh38: 2:202464873-202464874
14	BMPR2	NM_001204.7(BMPR2):c.2202del (p.Pro735fs)	DEL	Pathogenic	845712	rs1688559190	GRCh37: 2:203420589-203420589 GRCh38: 2:202555866-202555866
15	BMPR2	NM_001204.7(BMPR2):c.1233_1236dup (p.Tyr413fs)	DUP	Pathogenic	967816	rs1688050712	GRCh37: 2:203397411-203397412 GRCh38: 2:202532688-202532689
16	BMPR2	NM_001204.7(BMPR2):c.897_903del (p.Ser300fs)	DEL	Pathogenic	1069902		GRCh37: 2:203384853-203384859 GRCh38: 2:202520130-202520136
17	BMPR2	NM_001204.7(BMPR2):c.1206del (p.Lys402fs)	DEL	Pathogenic	1073354		GRCh37: 2:203397383-203397383 GRCh38: 2:202532660-202532660
18	BMPR2	NM_001204.7(BMPR2):c.610A>T (p.Lys204Ter)	SNV	Pathogenic	1072447		GRCh37: 2:203379691-203379691 GRCh38: 2:202514968-202514968
19	BMPR2	NC_000002.12:g.(?_202467509)_(202467699_?)del	DEL	Pathogenic	830694		GRCh37: 2:203332232-203332422 GRCh38:
20	BMPR2	NC_000002.12:g.(?_202514864)_(202514989_?)del	DEL	Pathogenic	833519		GRCh37: 2:203379587-203379712 GRCh38:
21	BMPR2	NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)	SNV	Pathogenic	425719	rs1085307177	GRCh37: 2:203329655-203329655 GRCh38: 2:202464932-202464932
22	BMPR2	NC_000002.12:g.(?_202513699)_(202542467_?)del	DEL	Pathogenic	583625		GRCh37: 2:203378422-203407190 GRCh38: 2:202513699-202542467
23	BMPR2	NC_000002.12:g.(?_202513709)_(202520211_?)del	DEL	Pathogenic	660143		GRCh37: 2:203378432-203384934 GRCh38: 2:202513709-202520211
24	BMPR2	NC_000002.12:g.(?_202513699)_(202530974_?)del	DEL	Pathogenic	658435		GRCh37: 2:203378422-203395697 GRCh38: 2:202513699-202530974
25	BMPR2	NC_000002.12:g.(?_202530784)_(202542457_?)del	DEL	Pathogenic	832606		GRCh37: 2:203395507-203407180 GRCh38:
26	BMPR2	NC_000002.12:g.(?_202467499)_(202514999_?)del	DEL	Pathogenic	458622		GRCh37: 2:203332222-203379722 GRCh38: 2:202467499-202514999
27	BMPR2	NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp)	SNV	Pathogenic	8799	rs137852743	GRCh37: 2:203332348-203332348 GRCh38: 2:202467625-202467625
28	BMPR2	NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)	SNV	Pathogenic	409813	rs1060502576	GRCh37: 2:203407155-203407155 GRCh38: 2:202542432-202542432
29	BMPR2	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	SNV	Pathogenic	425685	rs1085307154	GRCh37: 2:203242245-203242245 GRCh38: 2:202377522-202377522
30	BMPR2	NM_001204.7(BMPR2):c.1125_1128+16del	DEL	Pathogenic	238628	rs878854272	GRCh37: 2:203395674-203395693 GRCh38: 2:202530951-202530970
31	BMPR2	NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)	DEL	Pathogenic	1069537		GRCh37: 2:203420838-203420839 GRCh38: 2:202556115-202556116
32	BMPR2	NM_001204.7(BMPR2):c.1748dup (p.Asn583fs)	DUP	Pathogenic	1069660		GRCh37: 2:203420129-203420130 GRCh38: 2:202555406-202555407
33	BMPR2	NM_001204.7(BMPR2):c.1102G>T (p.Glu368Ter)	SNV	Pathogenic	1073527		GRCh37: 2:203395651-203395651 GRCh38: 2:202530928-202530928
34	BMPR2	NM_001204.7(BMPR2):c.1097del (p.Pro366fs)	DEL	Pathogenic	425871	rs1085307296	GRCh37: 2:203395644-203395644 GRCh38: 2:202530921-202530921
35	BMPR2	NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)	DUP	Pathogenic	425880	rs1085307303	GRCh37: 2:203397319-203397320 GRCh38: 2:202532596-202532597
36	BMPR2	NM_001204.7(BMPR2):c.524del (p.Met174_Leu175insTer)	DEL	Pathogenic	1076573		GRCh37: 2:203378546-203378546 GRCh38: 2:202513823-202513823
37	BMPR2	NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)	SNV	Pathogenic	8805	rs137852748	GRCh37: 2:203421005-203421005 GRCh38: 2:202556282-202556282
38	BMPR2	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	SNV	Pathogenic	222513	rs869025366	GRCh37: 2:203378462-203378462 GRCh38: 2:202513739-202513739
39	BMPR2	NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter)	SNV	Pathogenic	425721	rs1085307179	GRCh37: 2:203329656-203329656 GRCh38: 2:202464933-202464933
40	BMPR2	NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr)	SNV	Pathogenic	425754	rs1085307205	GRCh37: 2:203332290-203332290 GRCh38: 2:202467567-202467567
41	BMPR2	NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr)	SNV	Pathogenic	425907	rs1085307325	GRCh37: 2:203397438-203397438 GRCh38: 2:202532715-202532715
42	BMPR2	NM_001204.7(BMPR2):c.969dup (p.His324fs)	DUP	Pathogenic	425858	rs1085307283	GRCh37: 2:203395517-203395518 GRCh38: 2:202530794-202530795
43	BMPR2	NM_001204.7(BMPR2):c.260dup (p.His87fs)	DUP	Pathogenic	425746	rs1085307199	GRCh37: 2:203332253-203332254 GRCh38: 2:202467530-202467531
44	BMPR2	NM_001204.7(BMPR2):c.961del (p.Arg321fs)	DEL	Pathogenic	425847	rs1085307276	GRCh37: 2:203384918-203384918 GRCh38: 2:202520195-202520195
45	BMPR2	NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter)	SNV	Pathogenic	425947	rs1085307355	GRCh37: 2:203417476-203417476 GRCh38: 2:202552753-202552753
46	BMPR2	NM_001204.7(BMPR2):c.894G>A (p.Trp298Ter)	SNV	Pathogenic	1372691		GRCh37: 2:203384851-203384851 GRCh38: 2:202520128-202520128
47	BMPR2	NC_000002.11:g.(?_203407024)_(203407180_?)del	DEL	Pathogenic	1419785		GRCh37: 2:203407024-203407180 GRCh38:
48	BMPR2	NC_000002.11:g.(?_203329522)_(203379712_?)del	DEL	Pathogenic	1409534		GRCh37: 2:203329522-203379712 GRCh38:
49	BMPR2	NM_001204.7(BMPR2):c.320C>A (p.Ser107Ter)	SNV	Pathogenic	1453966		GRCh37: 2:203332314-203332314 GRCh38: 2:202467591-202467591
50	overlap with 6 genes	NC_000002.11:g.(?_202566574)_(203424669_?)del	DEL	Pathogenic	1455397		GRCh37: 2:202566574-203424669 GRCh38:

Sources

Expression for Pulmonary Hypertension

Search GEO for disease gene expression data for Pulmonary Hypertension.

Sources

Pathways for Pulmonary Hypertension

Pathways related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	MicroRNAs in cardiomyocyte hypertrophy ⁷⁴ Show member pathways Cardiac hypertrophic response ⁷⁴	11.62	NPPB NPPA MIR21 EDN1
2	miRNAs involved in DNA damage response ⁷⁴	11.26	MIR21 MIR20A MIR17
3	ALK1 signaling events ⁶¹ Show member pathways ALK1 pathway ⁶¹	10.53	CAV1 BMPR2 ACVRL1
4	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.14	NPPB NPPA BMPR2

Sources

GO Terms for Pulmonary Hypertension

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.86	TNXA NPPB NPPA MIR451A MIR22 MIR21
2	extracellular vesicle	GO:1903561	9.02	MIR451A MIR22 MIR21 MIR20A MIR17

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

(show all 47)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of angiogenesis	GO:0045766	10.15	MIR21 MIR20A ADM ACVRL1
2	cellular response to hypoxia	GO:0071456	10.09	MIR17 MALAT1 KCNK3 EDN1
3	vasodilation	GO:0042311	10.09	NPPB NPPA CPS1
4	blood vessel remodeling	GO:0001974	10.08	EDNRA BMPR2 ACVRL1
5	positive regulation of BMP signaling pathway	GO:0030513	10.04	MIR20A BMPR2 ACVRL1
6	negative regulation of gene expression	GO:0010629	10.03	MIR451A MIR21 MIR20A MIR17 EDN1 ACVRL1
7	positive regulation of heart rate	GO:0010460	10.01	ADM EDN1 NPPA
8	endothelin receptor signaling pathway	GO:0086100	10	EDNRA EDN1
9	positive regulation of cation channel activity	GO:2001259	10	EDNRA EDN1
10	retina vasculature development in camera-type eye	GO:0061298	9.99	BMPR2 ACVRL1
11	axonogenesis involved in innervation	GO:0060385	9.99	EDNRA EDN1
12	regulation of glucose transmembrane transport	GO:0010827	9.98	EDNRA EDN1
13	noradrenergic neuron differentiation	GO:0003357	9.97	EDNRA EDN1
14	cardiac neural crest cell migration involved in outflow tract morphogenesis	GO:0003253	9.97	EDNRA EDN1
15	outflow tract morphogenesis	GO:0003151	9.96	MIR20A MIR17 BMPR2
16	body fluid secretion	GO:0007589	9.96	EDN1 NPPB
17	lymphatic endothelial cell differentiation	GO:0060836	9.96	ACVRL1 BMPR2
18	cellular response to luteinizing hormone stimulus	GO:0071373	9.95	EDN1 EDNRA
19	negative regulation of vasoconstriction	GO:0045906	9.93	ADM BMPR2
20	venous blood vessel development	GO:0060841	9.93	ACVRL1 BMPR2
21	positive regulation of cardiac muscle hypertrophy	GO:0010613	9.92	EDN1 MIR21 PDE5A
22	regulation of blood pressure	GO:0008217	9.91	NPPB NPPA EDNRA EDN1 ACVRL1
23	response to hypoxia	GO:0001666	9.9	ACVRL1 ADM CAV1 EDN1 EDNRA SLC6A4
24	neural crest cell fate commitment	GO:0014034	9.89	EDN1 EDNRA
25	sympathetic neuron axon guidance	GO:0097492	9.88	EDN1 EDNRA
26	negative regulation of smooth muscle cell apoptotic process	GO:0034392	9.87	MIR21 EDN1
27	regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	GO:1902514	9.87	NPPA MIR21
28	blood vessel diameter maintenance	GO:0097746	9.87	NPPB NPPA EDN1
29	endothelial tube morphogenesis	GO:0061154	9.86	MIR21 ACVRL1
30	endothelin receptor signaling pathway involved in heart process	GO:0086101	9.86	EDNRA EDN1
31	miRNA-mediated gene silencing by inhibition of translation	GO:0035278	9.85	MIR17 MIR20A MIR21
32	response to organic substance	GO:0010033	9.85	SLC6A4 EDNRA ADM
33	cellular response to organic substance	GO:0071310	9.85	SLC6A4 EDNRA EDN1
34	pharyngeal arch artery morphogenesis	GO:0061626	9.85	EDNRA EDN1 BMPR2
35	negative regulation of chondrocyte proliferation	GO:1902731	9.82	MIR21 BMPR2
36	meiotic cell cycle process involved in oocyte maturation	GO:1903537	9.8	EDNRA EDN1
37	positive regulation of vascular associated smooth muscle cell proliferation	GO:1904707	9.8	EDN1 MIR17 MIR20A MIR21
38	negative regulation of endothelial cell proliferation	GO:0001937	9.8	MIR22 MIR21 CAV1 ACVRL1
39	cellular response to human chorionic gonadotropin stimulus	GO:0044751	9.78	EDNRA EDN1
40	positive regulation of potassium ion export across plasma membrane	GO:1903766	9.75	NPPA MIR21
41	positive regulation of cardiac muscle hypertrophy in response to stress	GO:1903244	9.65	MIR20A MIR17
42	positive regulation of vascular associated smooth muscle cell migration	GO:1904754	9.63	MIR451A MIR21 MIR20A
43	negative regulation of vascular associated smooth muscle cell apoptotic process	GO:1905460	9.62	MIR17 MIR21
44	positive regulation of metalloendopeptidase activity	GO:1904685	9.61	MIR21 MIR17
45	vasoconstriction	GO:0042310	9.56	SLC6A4 EDNRA EDN1 CAV1
46	positive regulation of pulmonary blood vessel remodeling	GO:1905111	9.51	MIR20A MIR17
47	negative regulation of systemic arterial blood pressure	GO:0003085	9.17	NPPB NPPA MIR17 BMPR2

Molecular functions related to Pulmonary Hypertension according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor activity	GO:0005024	9.67	BMPR2 ACVRL1
2	mRNA 3'-UTR binding	GO:0003730	9.62	MIR451A MIR21 MIR20A MIR17
3	transmembrane receptor protein serine/threonine kinase activity	GO:0004675	9.58	BMPR2 ACVRL1
4	BMP receptor activity	GO:0098821	9.56	BMPR2 ACVRL1
5	hormone activity	GO:0005179	9.56	NPPB NPPA EDN1 ADM
6	hormone receptor binding	GO:0051427	9.46	NPPB NPPA
7	mRNA base-pairing translational repressor activity	GO:1903231	9.02	MIR451A MIR22 MIR21 MIR20A MIR17