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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Sources:
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
Usefulness of three-dimensional echocardiography in assessing right ventricular function in patients with primary pulmonary hypertension. (19325565)
2009
2
Brain natriuretic peptide in primary pulmonary hypertension]. (16676101)
2006
3
HIV-associated primary pulmonary hypertension: a first case report in Thailand and literature review. (16241029)
2005
4
Lung transplantation for primary pulmonary hypertension and Eisenmenger's syndrome. (15855861)
2005
5
Oral sildenafil improves primary pulmonary hypertension refractory to epoprostenol. (15791043)
2005
6
Primary pulmonary hypertension in children may have a different genetic background than in adults. (15295086)
2004
7
Fatal pulmonary arterial dissection and sudden death as initial manifestation of primary pulmonary hypertension: a case report. (15210140)
2004
8
Long term survival in primary pulmonary hypertension. (15201266)
2004
9
Transcatheter embolization of pulmonary artery false aneurysm associated with primary pulmonary hypertension. (15259821)
2004
10
Identical twins with primary pulmonary hypertension: beraprost vs epoprostenol. (15006984)
2004
11
Beta-blocker prevented repeated pulmonary hypertension episodes after bilateral lung transplantation in a patient with primary pulmonary hypertension. (15514622)
2004
12
Therapy for primary pulmonary hypertension. (12712230)
2003
13
Pulmonary arterial hypertension--the primary pulmonary hypertension syndromes. (14509142)
2003
14
Insights into the genetic and molecular basis of primary pulmonary hypertension. (12621102)
2003
15
Primary pulmonary hypertension is predominantly a hereditary disease. (11893705)
2002
16
Linkage analysis in a large family with primary pulmonary hypertension: genetic heterogeneity and a second primary pulmonary hypertension locus on 2q31-32. (11893685)
2002
17
Determination of prostacyclin in plasma through a bioluminescent immunoassay for 6-keto-prostaglandin F1alpha: implication of dosage in patients with primary pulmonary hypertension. (12175181)
2002
18
Carvedilol in treating primary pulmonary hypertension patients: effect on severity of cardiac failure, degree of pulmonary hypertension, concentration of catecholamines in blood plasma and dependence of cyclic AMP synthesis in lymphocytes on beta-adrenergic receptors]. (12360591)
2002
19
Pulmonary artery pulse pressure and wave reflection in chronic pulmonary thromboembolism and primary pulmonary hypertension. (11263613)
2001
20
One-year continuous inhaled nitric oxide for primary pulmonary hypertension. (11243987)
2001
21
Primary pulmonary hypertension in HIV patients: a systematic review. (11205929)
2001
22
Current management of primary pulmonary hypertension. (11784212)
2001
23
Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein tA^ype II receptor. (11250205)
2001
24
Effects of long-term treatment with prostacyclin on plasma adrenomedullin in patients with primary pulmonary hypertension]. (11729726)
2001
25
Accuracy of currently utilized clinical diagnostic strategy in primary pulmonary hypertension: validation against pathologic diagnosis. (11250283)
2001
26
A new era in the treatment of primary pulmonary hypertension. (11179256)
2001
27
Primary pulmonary hypertension. World Health Organization. (11221172)
2000
28
Treatment with epoprostenol reverts nitric oxide non-responsiveness in patients with primary pulmonary hypertension. (10722538)
2000
29
Sildenafil as a selective pulmonary vasodilator in childhood primary pulmonary hypertension. (10908271)
2000
30
Persistent pulmonary hypertension of the newborn presenting as the primary manifestation of intracranial arteriovenous malformation of the Vein of Galen. (11142390)
2000
31
Gene for familial primary pulmonary hypertension identified. (10950623)
2000
32
Frequency and prognostic significance of pericardial effusion in primary pulmonary hypertension. PPH Study Group. Primary pulmonary hypertension. (10468096)
1999
33
Cellular and molecular mechanisms responsible for the pathogenesis of primary pulmonary hypertension. (10093141)
1999
34
High prevalence of hypothyroidism in patients with primary pulmonary hypertension. (10555089)
1999
35
A role for potassium channels in smooth muscle cells and platelets in the etiology of primary pulmonary hypertension. (9741569)
1998
36
Value of a Doppler-derived index combining systolic and diastolic time intervals in predicting outcome in primary pulmonary hypertension. (9605059)
1998
37
5-Lipoxygenase and 5-lipoxygenase activating protein (FLAP) immunoreactivity in lungs from patients with primary pulmonary hypertension. (9445303)
1998
38
Epoprostenol (prostacyclin) therapy in primary pulmonary hypertension. (9625639)
1998
39
Primary pulmonary hypertension. (8988890)
1997
40
The presence of genetic anticipation suggests that the molecular basis of familial primary pulmonary hypertension may be trinucleotide repeat expansion. (9184540)
1997
41
Exhaled nitric oxide during exercise in primary pulmonary hypertension and pulmonary fibrosis. (8995991)
1997
42
Plasma levels of adrenomedullin in primary and secondary pulmonary hypertension in patients <20 years of age. (9185657)
1997
43
Pulsed delivery of inhaled nitric oxide to patients with primary pulmonary hypertension: an ambulatory delivery system and initial clinical tests. (8769509)
1996
44
Anesthetic considerations for parturients with primary pulmonary hypertension: review of the literature and clinical presentation. (15321380)
1996
45
Intravenous epoprostenol for primary pulmonary hypertension. (8618595)
1996
46
Primary pulmonary hypertension as a risk factor for the development of obliterative bronchiolitis in lung allograft recipients. (8797415)
1996
47
Primary pulmonary hypertension and the human immunodeficiency virus. Report of two cases and a review of the literature. (7487262)
1995
48
Continuous infusion of prostacyclin decreases plasma levels of t-PA and PAI-1 in primary pulmonary hypertension. (7495094)
1995
49
Primary pulmonary hypertension in a HIV+ patient. (8834955)
1995
50
Familial pulmonary hypertension in association with an abnormal hemoglobin. Insights into the pathogenesis of primary pulmonary hypertension. (1708327)
1991

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