PAH
MCID: PRM021
MIFTS: 82

Primary Pulmonary Hypertension (PAH) malady

Cardiovascular diseases, Respiratory diseases, Genetic diseases categories

Summaries for Primary Pulmonary Hypertension

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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

MalaCards: Primary Pulmonary Hypertension, also known as pulmonary hypertension, is related to hypertension and connective tissue disease. An important gene associated with Primary Pulmonary Hypertension is BMPR2 (bone morphogenetic protein receptor, type II (serine/threonine kinase)), and among its related pathways are Common Pathway and TOB in Osteoblast Signaling. The drugs alprostadil and nitroglycerin and the compounds captopril and norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and endothelial, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Genetics Home Reference:21 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. 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, pressure increases in the pulmonary artery and in the heart chamber that pumps blood into the pulmonary artery (the right ventricle).

MedlinePlus:33 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

CDC:3 Symptoms of pulmonary hypertension include—

Wikipedia:63 Pulmonary hypertension (PH) is an increase of blood pressure in the pulmonary artery, pulmonary vein, or... more...

Description from OMIM:46 265400,178600

Aliases & Classifications for Primary Pulmonary Hypertension

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 27ICD9CM, 46OMIM, 56SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Cardiovascular diseases, Respiratory diseases


Characteristics (Orphanet epidemiological data):

48
idiopathic pulmonary arterial hypertension:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

primary pulmonary hypertension 8 63 22 21 10 44 30
pulmonary hypertension 8 63 10 33 60
idiopathic pulmonary arterial hypertension 42 48 60
sporadic primary pulmonary hypertension 63 21 60
familial primary pulmonary hypertension 63 21 60
idiopathic pulmonary hypertension 63 21 60
pulmonary arterial hypertension 63 42 21
ayerza syndrome 63 21 60
pph 63 21
hereditary pulmonary arterial hypertension 42
heritable pulmonary arterial hypertension 42
familial pulmonary arterial hypertension 42
pulmonary hypertension, idiopathic 8
hypertension pulmonary 44
fpah 42
ipah 48
ppht 21
fpph 21
pah 21


External Ids:

Disease Ontology8 DOID:14557, DOID:6432
ICD9CM27 416.0
NCIt39 C3120
ICD10 via Orphanet26 I27.0
ICD1025 I27.0

Related Diseases for Primary Pulmonary Hypertension

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Primary Pulmonary Hypertension family:

Pulmonary Hypertension, Primary, 4 Pulmonary Hypertension, Primary, 3
Pulmonary Hypertension, Primary, 2

Diseases related to Primary Pulmonary Hypertension via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 450)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension32.1PDE5A, NPPB, NPPA, BMPR2, EDN1, SLC6A4
2connective tissue disease31.0FBN1, THBD
3mixed connective tissue disease30.9BMPR2, FBN1, ACVRL1
4lupus erythematosus30.6THBD
5systemic lupus erythematosus30.6FBN1, FGA, THBD, ALOX5
6aortic valve stenosis30.5BMP2, NPPA, NPPB
7congestive heart failure30.5PDE5A, NPPB, NPPA, EDN1, ADM
8breast cancer30.4BMPR1B, BMP2, BMPR2, SMAD1, ALOX5, ADM
9hepatopulmonary syndrome30.4EDN1
10hereditary hemorrhagic telangiectasia30.4BMPR2, ACVRL1
11portal hypertension30.4EDN1
12migraine30.3SLC6A4, PDE5A
13hyperhomocysteinemia30.3THBD, FBN1
14liver cirrhosis30.3ADM, ALOX5, EDN1, NPPA
15ischemia30.3PDE5A, NPPB, EDN1, FGA, ALOX5, ADM
16prostatitis30.2PDE5A
17mitral valve stenosis30.2NPPB, NPPA, FGA
18systemic scleroderma30.2EDN1, FBN1, FGA, THBD, ALOX5
19eisenmenger syndrome30.1THBD
20obesity30.1PDE5A, ALOX5
21hyperthyroidism30.1ADM
22myeloma30.0BMP2
23peritonitis30.0ALOX5
24pulmonary embolism30.0FGA, NPPB
25sickle cell disease30.0FGA, EDN1
26pneumonia30.0ADM, FGA
27congenital heart defect30.0NPPB, NPPA, BMPR2
28renal hypertension30.0ADM, EDN1
29leukemia30.0BMP2, BMPR2, FGA, ALOX5
30rheumatoid arthritis30.0ALOX5, BMP2
31arthritis30.0ALOX5, FBN1, BMP2
32thrombocytopenia30.0FGA, THBD, ALOX5
33dilated cardiomyopathy30.0NPPB, NPPA, EDN1, FBN1, FGA
34vascular disease30.0PDE5A, BMPR2, EDN1, FGA, THBD, SLC6A4
35coronary artery disease30.0PDE5A, NPPB, NPPA, EDN1, FBN1, FGA
36myocardial infarction30.0PDE5A, NPPB, NPPA, EDN1, FGA, SLC6A4
37atherosclerosis30.0PDE5A, BMP2, EDN1, FBN1, FGA, THBD
38central sleep apnea30.0NPPB, KCNK3
39prostate cancer30.0PDE5A, BMPR1B, BMP2, BMPR2, ALOX5
40cerebrovascular disease29.8ADM
41amyloidosis29.8NPPB
42fibrodysplasia ossificans progressiva29.8SMAD9, BMP2
43kawasaki disease29.8ADM, NPPB
44cor pulmonale29.8NPPB, NPPA, BMPR2, EDN1
45adenocarcinoma29.8ADM, THBD, BMP2
46essential hypertension29.8NPPB, NPPA, EDN1, FGA, THBD, ADM
47acute myocardial infarction29.8NPPB, NPPA, EDN1, FGA, THBD, SLC6A4
48hepatorenal syndrome29.8EDN1, NPPA
49telangiectasis29.8ACVRL1
50phenylketonuria10.8

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



Diseases related to primary pulmonary hypertension

Clinical Features for Primary Pulmonary Hypertension

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46OMIM
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Clinical features from OMIM:

265400,178600

Drugs & Therapeutics for Primary Pulmonary Hypertension

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Primary Pulmonary Hypertension

Drug clinical trials:

Search ClinicalTrials for Primary Pulmonary Hypertension

Search NIH Clinical Center for Primary Pulmonary Hypertension

Search CenterWatch for Primary Pulmonary Hypertension

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Primary Pulmonary Hypertension cell therapies at LifeMap Discovery.

Genetic Tests for Primary Pulmonary Hypertension

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22GTR
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Genetic tests related to Primary Pulmonary Hypertension:

id Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension22

Anatomical Context for Primary Pulmonary Hypertension

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Primary Pulmonary Hypertension:

32
Lung, Heart, Endothelial, Bone, Smooth muscle, Brain, Testes, Liver, Monocytes, Thyroid, T cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Primary Pulmonary Hypertension:
id TissueAnatomical CompartmentCell Relevance
1 LungPulmonary Capillary Plexus  Affected by disease

Animal Models for Primary Pulmonary Hypertension or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Pulmonary Hypertension:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.3NPPB, NPPA, BMPR2, FBN1, SLC6A4, ACVRL1
2MP:000537910.2SLC6A4, FGA, FBN1, KCNK3
3MP:000539010.1BMP2, BMPR2, FBN1, HOXB6, FGA, SMAD1
4MP:000538210.1BMPR1B, BMP2, EDN1, FBN1, SLC6A4, ACVRL1
5MP:000538010.0BMPR1B, BMP2, BMPR2, EDN1, FBN1, FGA
6MP:000538810.0KCNK3, BMPR2, THBD, ACVRL1
7MP:00028739.9BMP2, BMPR2, EDN1, THBD, SLC6A4, ACVRL1
8MP:00036319.9FBN1, EDN1, BMP2, BMPR1B, KCNK3, CBLN2
9MP:00053769.8EDN1, BMPR2, BMP2, NPPA, KCNK3, FBN1
10MP:00053859.8ADM, KCNK3, NPPB, NPPA, BMP2, BMPR2
11MP:00107689.7BMPR1B, BMP2, BMPR2, EDN1, FBN1, FGA

Publications for Primary Pulmonary Hypertension

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50PubMed
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Articles related to Primary Pulmonary Hypertension:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
50 Years ago in the Journal of Pediatrics: primary pulmonary hypertension in children living at high altitude. (23321044)
2013
2
Gastric variceal bleeding uncovering a rare association of CREST syndrome, primary biliary cirrhosis, nodular regenerative hyperplasia and pulmonary hypertension. (20485183)
2010
3
Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient. (20411253)
2010
4
Internal jugular vein valve incompetence in COPD and primary pulmonary hypertension. (18335510)
2008
5
Assessment of the vasodilator response in primary pulmonary hypertension. Comparing prostacyclin and iloprost administered by either infusion or inhalation. (12581683)
2003
6
Understanding primary pulmonary hypertension. (12669944)
2003
7
Pulmonary function in primary pulmonary hypertension. (12651053)
2003
8
Association between hyperhomocysteinemia and primary pulmonary hypertension. (12854633)
2003
9
Intravascular ultrasound of the elastic pulmonary arteries: a new approach for the evaluation of primary pulmonary hypertension. (12591838)
2003
10
Recovery of cardiac function after living-donor lung transplantation in a patient with primary pulmonary hypertension. (11922281)
2002
11
Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. (11940546)
2002
12
Quantitative analysis of lung perfusion in patients with primary pulmonary hypertension. (12050319)
2002
13
Specific bone morphogenic protein receptor II mutations found in primary pulmonary hypertension cause different biochemical phenotypes in vitro. (11893707)
2002
14
Treatment of primary pulmonary hypertension -- the next generation. (11907295)
2002
15
Treatment of primary pulmonary hypertension. (12412989)
2002
16
Aerosolised iloprost improves pulmonary haemodynamics in patients with primary pulmonary hypertension receiving continuous epoprostenol treatment. (11514696)
2001
17
Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. (11484688)
2001
18
Primary pulmonary hypertension is not associated with scleroderma-like changes in nailfold capillaries. (11555512)
2001
19
Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins. (11502704)
2001
20
Pregnancy and primary pulmonary hypertension : successful outcome with epoprostenol therapy. (11243988)
2001
21
Effects of iloprost inhalation on exercise capacity and ventilatory efficiency in patients with primary pulmonary hypertension. (10821815)
2000
22
Clinical correlates and prognostic significance of six-minute walk test in patients with primary pulmonary hypertension. Comparison with cardiopulmonary exercise testing. (10673190)
2000
23
Gene for primary pulmonary hypertension identified. (10981899)
2000
24
The age-adjusted mortality rate from primary pulmonary hypertension, in age range 20 to 54 years, did not increase during the years of peak "phen/fen" use. (11083718)
2000
25
POEMS syndrome: a clue to understanding primary pulmonary hypertension? A review of current insights into the pathogenesis of primary pulmonary hypertension. (10978933)
2000
26
Primary pulmonary hypertension and thyroid disease. (11035704)
2000
27
Exercise testing in children with primary pulmonary hypertension. (9861081)
1999
28
Echocardiographic Evaluation of Patients with Primary Pulmonary Hypertension Before and After Atrial Septostomy. (11175203)
1999
29
Prothrombotic mechanisms in primary pulmonary hypertension. (10595782)
1999
30
Heart-lung transplantation for primary pulmonary hypertension. (10320232)
1999
31
Echocardiographic predictors of an adverse response to a nifedipine trial in primary pulmonary hypertension: diminished left ventricular size and leftward ventricular septal bowing. (10559078)
1999
32
Primary pulmonary hypertension and anorectic drugs. (9988623)
1999
33
Primary pulmonary hypertension: pathologist as patient. (9670148)
1998
34
Proceedings of the Brenot Memorial Symposium on the Pathogenesis of Primary Pulmonary Hypertension. Corisca, July 29-31, 1997. (9758532)
1998
35
Intrapulmonary shunting in primary pulmonary hypertension: an observation in two patients treated with epoprostenol sodium. (9674493)
1998
36
Reduction in pulmonary vascular resistance with long-term epoprostenol (prostacyclin) therapy in primary pulmonary hypertension. (9445406)
1998
37
Beneficial hemodynamic effects of oral prostacyclin (PGI2) analogue, beraprost sodium, on a patient with primary pulmonary hypertension--a case report. (9482517)
1998
38
Primary pulmonary hypertension in a patient with HIV infection. (10063433)
1998
39
Primary pulmonary hypertension and human immunodeficiency virus infection. (22346525)
1997
40
Primary pulmonary hypertension in non-cirrhotic portal fibrosis. (9248176)
1997
41
Left main coronary artery compression during primary pulmonary hypertension. (9315824)
1997
42
Successful blade atrial septostomy in a patient with severe primary pulmonary hypertension--a case report. (9387071)
1997
43
Appetite-suppressant drugs and primary pulmonary hypertension. (9019649)
1997
44
The use of nitric oxide in primary pulmonary hypertension. (9443361)
1997
45
Primary antiphospholipid syndrome presenting as chronic thromboembolic pulmonary hypertension. Treatment with thromboendarterectomy. (8730145)
1996
46
Two-year dynamics of vectorcardiography parameters in patients with primary pulmonary hypertension. (8948148)
1996
47
Familial association of primary pulmonary hypertension and a new low-oxygen affinity beta-chain hemoglobinopathy, Hb Washtenaw. (8617104)
1996
48
Regional alterations in lung ventilation in end-stage primary pulmonary hypertension: correlation between CT and scintigraphy. (7726033)
1995
49
Primary pulmonary hypertension in leopard syndrome. (7295444)
1981
50
Primary and chronic thromboembolic pulmonary hypertension. Nosologic spectrum. (4562468)
1972

Genetic Variations for Primary Pulmonary Hypertension

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Expression for genes affiliated with Primary Pulmonary Hypertension

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Primary Pulmonary Hypertension

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

Pathways for genes affiliated with Primary Pulmonary Hypertension

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Sources:
53Reactome, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology, 52R&D Systems, 55SinoBiological
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Pathways related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4THBD, FGA
210.3BMPR1B, BMP2, BMPR2
310.3BMPR1B, BMP2, BMPR2
410.3BMPR2, SMAD1, SMAD9
510.3SMAD9, SMAD1, BMPR2
610.3BMP2, BMPR2, SMAD1
710.3SMAD9, SMAD1, ACVRL1
810.3BMPR1B, BMP2, BMPR2, ACVRL1
9
Hide members
10.3ACVRL1, BMPR2, BMP2, BMPR1B
1010.2BMPR2, ACVRL1, SMAD1, SMAD9
11
Hide members
10.2BMPR1B, BMP2, BMPR2, SMAD1
1210.2SMAD1, ACVRL1, BMPR2, BMP2
13
Hide members
10.2BMP2, FBN1, FGA, THBD
1410.2BMPR2, BMP2, BMPR1B, NPPA, NPPB
15
Hide members
10.2NPPB, NPPA, BMPR1B, BMP2, BMPR2
1610.2SMAD9, SMAD1, BMPR2, BMP2, BMPR1B
17
Hide members
9.9BMPR1B, BMP2, BMPR2, EDN1, FBN1, FGA

Compounds for genes affiliated with Primary Pulmonary Hypertension

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1captopril44 28 49 59 1114.7ADM, EDN1
2norepinephrine44 11 2412.7ADM, SLC6A4, PDE5A
3estrogen4410.7PDE5A, SLC6A4, NPPB
46-ketoprostaglandin f1alpha4410.7NPPA, FGA, THBD, EDN1
5ptca4410.7NPPB, ADM, THBD, FGA
6urodilatin4410.7EDN1, NPPB, NPPA
78-bromo cgmp4410.6NPPB, PDE5A, NPPA, ADM
8phosphoramidon44 1111.6EDN1, NPPA, ADM, NPPB
9carvedilol44 49 28 1113.6ADM, NPPB, NPPA, EDN1
10omapatrilat4410.6NPPA, EDN1, ADM
11hanp4410.6NPPB, NPPA, EDN1
12spec-t4410.6NPPB, ADM, SLC6A4, NPPA
13isoproterenol44 1111.6ADM, PDE5A
14trandolapril44 1111.6NPPB, NPPA, EDN1
15losartan44 49 28 1113.6ADM, EDN1, NPPA, NPPB, THBD
16iloprost44 59 28 1113.6THBD, ADM, EDN1, PDE5A
17nitroglycerin44 1111.6NPPB, NPPA, EDN1, ADM, PDE5A
18sildenafil44 49 28 11 2414.6NPPA, NPPB, PDE5A, SLC6A4, EDN1
19bosentan44 1111.6ADM, NPPB, EDN1
20pge14410.6THBD, ADM, NPPA, FGA, PDE5A
21ang ii4410.6EDN1, ADM, NPPB, NPPA
22nitrate4410.6ADM, EDN1, NPPB, PDE5A
23txb24410.6ALOX5, THBD, EDN1, FGA
24oxygen44 2411.5BMPR2, FBN1, BMP2, PDE5A, ADM
25creatinine4410.5THBD, FGA, BMP2, NPPA, NPPB
26sodium nitroprusside4410.5EDN1, PDE5A, ADM, NPPB, NPPA
27l-nmma4410.5ADM, EDN1, NPPA, NPPB
28ibmx44 28 5912.5PDE5A, NPPA, BMP2, EDN1, THBD, ADM
29enalaprilat4410.5EDN1, NPPA, NPPB
30cgmp44 2811.5NPPA, EDN1, ADM, PDE5A, NPPB
31epinephrine44 11 2412.5NPPA, NPPB, EDN1, FGA, SLC6A4, ALOX5
32pentoxifylline44 1111.5NPPB, BMP2, PDE5A, THBD
33thromboxane44 2411.5ALOX5, FGA, EDN1, THBD
34histamine44 28 2412.4ADM, THBD, NPPB, ALOX5, PDE5A, EDN1
35indomethacin44 59 28 1113.4ALOX5, PDE5A, NPPB, BMP2, EDN1, ADM
36forskolin44 49 1112.4ADM, NPPA, NPPB, PDE5A
37phenylephrine44 28 11 2413.4NPPB, NPPA, EDN1, ADM
38sodium44 2411.4PDE5A, EDN1, THBD, NPPA, SLC6A4, ADM
39prostacyclin4410.4NPPB, NPPA, PDE5A, EDN1, FGA, THBD
40papaverine44 2 1112.4PDE5A, NPPB, EDN1
41mibg4410.4NPPB, NPPA, ADM
42nitric oxide44 11 2412.3BMP2, BMPR2, NPPB, PDE5A, NPPA, THBD
43vegf4410.3ALOX5, BMP2, NPPA, NPPB, PDE5A, THBD
44serine4410.3BMP2, SMAD1, ACVRL1, BMPR2, SLC6A4, FGA
45cyclosporin a44 28 5912.3NPPB, NPPA, BMP2, EDN1, ADM, THBD
46thromboxane a244 2411.2ADM, FGA, EDN1, ALOX5
47thiorphan44 28 1112.2NPPA, ADM, EDN1
48arginine4410.2ADM, KCNK3, PDE5A, NPPB, NPPA, BMP2
49thymidine44 2411.1BMPR2, BMP2, ADM, FGA, EDN1, NPPB
50cacl24410.0FBN1, FGA, THBD

GO Terms for genes affiliated with Primary Pulmonary Hypertension

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16Gene Ontology
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Cellular components related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.1ACVRL1, SLC6A4, THBD, BMPR2, BMPR1B, KCNK3
2cell surfaceGO:00998610.1BMP2, BMPR2, FGA, THBD, ACVRL1
3extracellular spaceGO:00561510.0ADM, NPPB, NPPA, BMP2, EDN1, FBN1
4extracellular regionGO:0055769.7NPPB, NPPA, BMP2, EDN1, FBN1, FGA

Biological processes related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1venous blood vessel developmentGO:06084110.7ACVRL1, BMPR2
2negative regulation of vasoconstrictionGO:04590610.7ADM, BMPR2
3lymphatic endothelial cell differentiationGO:06083610.7BMPR2, ACVRL1
4negative regulation of DNA biosynthetic processGO:200027910.7ACVRL1, BMPR2
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:01086210.7BMP2, BMPR2, ACVRL1
6positive regulation of bone mineralizationGO:03050110.7BMPR2, BMP2, BMPR1B
7positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusGO:190152210.7BMP2, SMAD1
8artery developmentGO:06084010.7ACVRL1, BMPR2
9positive regulation of odontogenesisGO:04248210.7BMP2, EDN1
10cellular response to BMP stimulusGO:07177310.7SMAD1, ACVRL1, BMP2
11retina vasculature development in camera-type eyeGO:06129810.7ACVRL1, BMPR2
12negative regulation of cell growthGO:03030810.6NPPB, NPPA, BMPR2, ACVRL1
13positive regulation of endothelial cell proliferationGO:00193810.6ACVRL1, BMPR2, BMP2
14positive regulation of osteoblast differentiationGO:04566910.6BMPR1B, BMP2, BMPR2, SMAD1
15cGMP biosynthetic processGO:00618210.6NPPA, NPPB
16regulation of blood pressureGO:00821710.6NPPB, NPPA, ACVRL1
17body fluid secretionGO:00758910.6EDN1, NPPB
18heart developmentGO:00750710.6BMP2, EDN1, FBN1, ADM
19cartilage developmentGO:05121610.6EDN1, SMAD1, SMAD9
20female pregnancyGO:00756510.6NPPA, THBD, ADM
21positive regulation of cardiac muscle hypertrophyGO:01061310.5EDN1, PDE5A
22response to hypoxiaGO:00166610.5BMP2, EDN1, SLC6A4, SMAD9, ADM
23protein phosphorylationGO:00646810.5BMPR1B, BMP2, ACVRL1, SMAD1, SMAD9
24positive regulation of cartilage developmentGO:06103610.5BMP2, SMAD1
25receptor guanylyl cyclase signaling pathwayGO:00716810.5NPPB, NPPA
26lymphangiogenesisGO:00194610.5BMPR2, ACVRL1
27BMP signaling pathwayGO:03050910.5SMAD9, SMAD1, ACVRL1, BMPR2, BMP2, BMPR1B
28positive regulation of urine volumeGO:03581010.5NPPB, EDN1
29positive regulation of heart rateGO:01046010.4EDN1, ADM
30negative regulation of blood coagulationGO:03019510.4THBD, EDN1
31vasoconstrictionGO:04231010.3SLC6A4, EDN1
32regulation of blood vessel sizeGO:05088010.3NPPB, NPPA
33positive regulation of renal sodium excretionGO:03581510.1NPPB, EDN1

Molecular functions related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor activity, type IGO:00502510.5ACVRL1, BMPR1B
2SMAD bindingGO:04633210.5BMPR1B, BMP2, ACVRL1
3hormone activityGO:00517910.4ADM, EDN1, NPPA, NPPB
4transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activityGO:03061810.4SMAD9, SMAD1
5transforming growth factor beta-activated receptor activityGO:00502410.4ACVRL1, BMPR2
6receptor bindingGO:00510210.4NPPB, NPPA, BMP2, FGA, ADM
7transmembrane receptor protein serine/threonine kinase activityGO:00467510.3BMPR1B, ACVRL1
8receptor signaling protein serine/threonine kinase activityGO:00470210.1ACVRL1, BMPR1B
9protein bindingGO:0055159.7FBN1, EDN1, BMPR2, BMP2, BMPR1B, FGA

Products for genes affiliated with Primary Pulmonary Hypertension

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Pulmonary Hypertension

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet