PAH
MCID: PRM021
MIFTS: 82

Primary Pulmonary Hypertension (PAH) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Respiratory diseases categories

Summaries for Primary Pulmonary Hypertension

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44NIH Rare Diseases, 35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 ALK1 signaling events and TGF-beta Signaling Pathway. The drugs alprostadil and epoprostenol and the compounds mibg and 8-bromo cgmp have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and endothelial, and related mouse phenotypes are respiratory system and digestive/alimentary.

MedlinePlus:35 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

Wikipedia:66 Pulmonary hypertension (PH) is an increase of blood pressure in the pulmonary artery, pulmonary vein, or... more...

Description from OMIM:48 265400,178600

Aliases & Classifications for Primary Pulmonary Hypertension

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Sources:
9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 32LifeMap Discovery™, 63UMLS, 59SNOMED-CT, 48OMIM, 36MeSH, 28ICD9CM, 41NCIt, 64UMLS via Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
idiopathic pulmonary arterial hypertension:
Inheritance: Sporadic; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

primary pulmonary hypertension 9 66 44 23 22 11 46 32
pulmonary hypertension 9 66 11 35 63
idiopathic pulmonary hypertension 66 44 22 63
idiopathic pulmonary arterial hypertension 44 50 63
sporadic primary pulmonary hypertension 66 22 63
familial primary pulmonary hypertension 66 22 63
pulmonary arterial hypertension 66 44 22
ayerza syndrome 66 22 63
pph 66 44 22
pah 44 22
hereditary pulmonary arterial hypertension 44
heritable pulmonary arterial hypertension 44
familial pulmonary arterial hypertension 44
pulmonary hypertension, idiopathic 9
hypertension pulmonary 46
fpah 44
ppht 22
fpph 22
ipah 50


External Ids:

Disease Ontology9 DOID:14557, DOID:6432
ICD9CM28 416.0
NCIt41 C3120
UMLS via Orphanet64 C3203102
ICD10 via Orphanet27 I27.0
ICD1026 I27.0

Related Diseases for Primary Pulmonary Hypertension

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18GeneCards, 19GeneDecks
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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 460)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension32.0NPPA, BMPR2, ADM, SLC6A4, EDN1, NPPB
2connective tissue disease31.2THBD
3mixed connective tissue disease31.1ACVRL1, BMPR2
4pulmonary embolism31.0FGA, NPPB
5congenital heart disease30.9SLC6A4, NPPB, NPPA
6eisenmenger syndrome30.7THBD
7hereditary hemorrhagic telangiectasia30.6ACVRL1, BMPR2
8aortic valve stenosis30.5NPPA, BMP2, NPPB
9congestive heart failure30.5NPPB, EDN1, ADM, NPPA
10hypertensive heart disease30.5NPPB, NPPA
11adult respiratory distress syndrome30.3ALOX5, THBD
12ischemia30.3NPPB, ALOX5, FGA, ADM, EDN1
13dysfibrinogenemia30.2THBD, FGA
14central sleep apnea30.2NPPB, KCNK3
15mitral valve stenosis30.2FGA, NPPB, NPPA
16portal hypertension30.2EDN1, BMPR2
17thrombocytopenia30.2THBD, ALOX5, FGA
18cor pulmonale30.1NPPA, NPPB, EDN1, BMPR2
19dilated cardiomyopathy30.1NPPB, EDN1, NPPA, FGA
20systemic scleroderma30.1EDN1, THBD, ALOX5, FGA
21liver cirrhosis30.1NPPA, ADM, ALOX5, EDN1
22coronary artery disease30.1NPPB, NPPA, FGA, EDN1, THBD
23telangiectasis30.0BMPR2, ACVRL1
24renal hypertension30.0ADM, EDN1
25vascular disease30.0EDN1, FGA, BMPR2, ACVRL1, THBD, SLC6A4
26atherosclerosis30.0THBD, ACVRL1, BMP2, ALOX5, FGA, EDN1
27kawasaki disease30.0ADM, NPPB
28myocardial infarction30.0SLC6A4, FGA, NPPB, EDN1, NPPA, ADM
29hepatorenal syndrome30.0NPPA, EDN1
30septic shock29.9FGA, NPPB, THBD, ADM
31sepsis29.9THBD, ADM, FGA, NPPB, ALOX5
32cerebrovascular disease29.8FGA, NPPB, NPPA, ALOX5, ADM, THBD
33chronic thromboembolic pulmonary hypertension11.2
34phenylketonuria10.8
35hypoxia10.8
36interstitial lung disease10.6
37thromboembolism10.6
38congenital diaphragmatic hernia10.6
39alveolar capillary dysplasia10.6
40obstructive lung disease10.6
41bronchopulmonary dysplasia10.5
42patent ductus arteriosus10.5
43ventricular septal defect10.5
44familial pulmonary arterial hypertension leucopenia and atrial septal defect10.5
45idiopathic pulmonary fibrosis10.5
46lupus erythematosus10.5
47transposition of the great arteries10.5
48systemic lupus erythematosus10.4
49sarcoidosis10.4
50aneurysm10.4

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



Diseases related to primary pulmonary hypertension

Symptoms for Primary Pulmonary Hypertension

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48OMIM
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Clinical features from OMIM:

265400,178600

Drugs & Therapeutics for Primary Pulmonary Hypertension

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

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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23GTR
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Genetic tests related to Primary Pulmonary Hypertension:

id Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension23

Anatomical Context for Primary Pulmonary Hypertension

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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Primary Pulmonary Hypertension:

34
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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38MGI
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MGI Mouse Phenotypes related to Primary Pulmonary Hypertension:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6THBD, ACVRL1, ADM, KCNK3, BMPR2
2MP:00053818.3BMP2, EDN1, THBD, ACVRL1, FGA
3MP:00053828.1SLC6A4, ACVRL1, EDN1, BMP2, BMPR1B
4MP:00028737.9EDN1, THBD, ACVRL1, BMP2, SLC6A4, BMPR2
5MP:00053907.8FGA, BMPR1B, BMPR2, ALOX5, EDN1, BMP2
6MP:00053697.8ACVRL1, ADM, EDN1, BMPR2, NPPA, NPPB
7MP:00053977.6ALOX5, ADM, ACVRL1, BMPR2, THBD, NPPA
8MP:00053807.6ACVRL1, BMPR1B, THBD, FGA, BMPR2, BMP2
9MP:00107687.0BMPR2, SLC6A4, FGA, BMPR1B, ACVRL1, ADM
10MP:00036317.0KCNK3, SLC6A4, FGA, CBLN2, BMPR2, EDN1
11MP:00053765.9FGA, EDN1, THBD, KCNK3, ADM, ACVRL1
12MP:00053855.5ACVRL1, FGA, SLC6A4, NPPB, NPPA, ALOX5

Publications for Primary Pulmonary Hypertension

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53PubMed
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Articles related to Primary Pulmonary Hypertension:

(show top 50)    (show all 504)
idTitleAuthorsYear
1
Primary pulmonary hypertension during pregnancy: A case report. (24174863)
2013
2
50 Years ago in the Journal of Pediatrics: primary pulmonary hypertension in children living at high altitude. (23321044)
2013
3
Isolated congenital left-sided pulmonary vein stenosis in an adult patient misdiagnosed as primary pulmonary hypertension. (21349107)
2011
4
Cesarean section and primary pulmonary hypertension: the role of intravenous dexmedetomidine. (19157850)
2009
5
Decreased whole body endogenous nitric oxide production in patients with primary pulmonary hypertension. (15665548)
2005
6
HIV-associated primary pulmonary hypertension: a first case report in Thailand and literature review. (16241029)
2005
7
Lack of human herpesvirus 8 infection in lungs of Japanese patients with primary pulmonary hypertension. (15688289)
2005
8
End-tidal PCO2 abnormality and exercise limitation in patients with primary pulmonary hypertension. (15888840)
2005
9
Phosphodiesterase inhibitors in the management of primary pulmonary hypertension. (15133384)
2004
10
Primary pulmonary hypertension in children may have a different genetic background than in adults. (15295086)
2004
11
Primary pulmonary hypertension: molecular basis and potential for therapy. (15005857)
2004
12
Therapy for primary pulmonary hypertension. (12712230)
2003
13
Low-dose systemic phosphodiesterase III inhibitor pimobendan combined with prostacyclin therapy in a patient with severe primary pulmonary hypertension. (14696637)
2003
14
Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension. (12221115)
2002
15
Significance of a plasma D-dimer test in patients with primary pulmonary hypertension. (12426270)
2002
16
Survival in primary pulmonary hypertension: the impact of epoprostenol therapy. (12234951)
2002
17
Oxidative stress in patients with primary pulmonary hypertension. (12447471)
2002
18
Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity. (11250282)
2001
19
Esophageal variceal ligation for esophageal variceal hemorrhage in a patient with portal and primary pulmonary hypertension complicating myelofibrosis. (11330433)
2001
20
Plasma brain natriuretic peptide as a prognostic indicator in patients with primary pulmonary hypertension]. (11255693)
2001
21
Aerosolised iloprost improves pulmonary haemodynamics in patients with primary pulmonary hypertension receiving continuous epoprostenol treatment. (11514696)
2001
22
Pulmonary artery pulse pressure and wave reflection in chronic pulmonary thromboembolism and primary pulmonary hypertension. (11263613)
2001
23
Current management of primary pulmonary hypertension. (11708765)
2001
24
HOX genes in human lung: altered expression in primary pulmonary hypertension and emphysema. (11238043)
2001
25
Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. (11484688)
2001
26
Primary pulmonary hypertension with severe systemic hypertension, Raynaud's phenomenon and relative polycythemia. (11579954)
2001
27
The enigma of primary pulmonary hypertension. (11300467)
2001
28
Primary pulmonary hypertension. World Health Organization. (11221172)
2000
29
Primary pulmonary hypertension with central sleep apnea: sudden death after bilevel positive airway pressure therapy. (10981861)
2000
30
Aerosolized iloprost for primary pulmonary hypertension. (11183891)
2000
31
Treatment with epoprostenol reverts nitric oxide non-responsiveness in patients with primary pulmonary hypertension. (10722538)
2000
32
Exercise testing in children with primary pulmonary hypertension. (9861081)
1999
33
Continuous infusion of epoprostenol improves the net balance between pulmonary endothelin-1 clearance and release in primary pulmonary hypertension. (10385501)
1999
34
Echocardiographic Evaluation of Patients with Primary Pulmonary Hypertension Before and After Atrial Septostomy. (11175203)
1999
35
Primary pulmonary hypertension: pathologist as patient. (9670148)
1998
36
Familial primary pulmonary hypertension locus mapped to chromosome 2q31-q32. (9676630)
1998
37
Primary pulmonary hypertension between inflammation and cancer. (9741573)
1998
38
Role of human immunodeficiency virus in primary pulmonary hypertension--case reports. (9855375)
1998
39
Vasodilators in the treatment of primary pulmonary hypertension. (9727771)
1998
40
Extracorporeal membrane oxygenation support for single lung transplantation in a patient with primary pulmonary hypertension. (9563612)
1998
41
Absence of hyperhomocysteinemia in ten patients with primary pulmonary hypertension. (9058503)
1997
42
Usefulness of atrial septostomy as a treatment for primary pulmonary hypertension and guidelines for its application. (9264443)
1997
43
Continuous intravenous epoprostenol improved survival, clinical status and hemodynamics in patients with severe primary pulmonary hypertension. (16379691)
1997
44
Palliative blade-balloon atrial septostomy in primary pulmonary hypertension. (9231554)
1997
45
Thromboembolism in primary pulmonary hypertension. (8973220)
1996
46
Immunocytochemical detection of progesterone receptors. A study in a patient with primary pulmonary hypertension. (7874968)
1995
47
Vascular remodeling in primary pulmonary hypertension. Potential role for transforming growth factor-beta. (8311113)
1994
48
Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension. (3382104)
1988
49
Cor triatriatum masked by primary pulmonary hypertension. (4080575)
1985
50
Primary pulmonary hypertension in leopard syndrome. (7295444)
1981

Variations for Primary Pulmonary Hypertension

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Primary Pulmonary Hypertension:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1BMPR2NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter)single nucleotide variantPathogenicrs137852741GRCh37Chr 2, 203421083: 203421083
2BMPR2NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter)single nucleotide variantPathogenicrs137852742GRCh37Chr 2, 203329673: 203329673
3BMPR2NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp)single nucleotide variantPathogenicrs137852743GRCh37Chr 2, 203332348: 203332348
4BMPR2NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr)single nucleotide variantPathogenicrs137852744GRCh37Chr 2, 203395589: 203395589
5BMPR2NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly)single nucleotide variantPathogenicrs137852745GRCh37Chr 2, 203417479: 203417479
6BMPR2NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp)single nucleotide variantPathogenicrs137852746GRCh37Chr 2, 203417496: 203417496
7BMPR2NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter)single nucleotide variantPathogenicrs137852747GRCh37Chr 2, 203378530: 203378530
8BMPR2NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter)single nucleotide variantPathogenicrs137852748GRCh37Chr 2, 203421005: 203421005
9BMPR2NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln)single nucleotide variantPathogenicrs137852749GRCh37Chr 2, 203417497: 203417497
10BMPR2NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg)single nucleotide variantPathogenicrs137852750GRCh37Chr 2, 203332361: 203332361
11BMPR2NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser)single nucleotide variantPathogenicrs137852750GRCh37Chr 2, 203332361: 203332361
12BMPR2NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter)single nucleotide variantPathogenicrs137852751GRCh37Chr 2, 203395543: 203395543
13BMPR2NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro)single nucleotide variantPathogenicrs137852752GRCh37Chr 2, 203421084: 203421084
14BMPR2NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter)single nucleotide variantPathogenicrs137852753GRCh37Chr 2, 203383554: 203383554
15BMPR2NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs)deletionPathogenicrs483352902GRCh37Chr 2, 203242241: 203242241
16BMPR2NM_001204.6: c.77-?_247+?deldeletionPathogenic

Expression for genes affiliated with Primary Pulmonary Hypertension

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2BioGPS, 16Gene Expression Omnibus DataSets
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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:
51PathCards, 39NCBI BioSystems Database, 58SinoBiological, 31KEGG, 56Reactome, 54QIAGEN
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Pathways related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
ALK1 pathway39
9.9BMPR2, ACVRL1
2
Show member pathways
9.4BMPR2, BMP2, BMPR1B
39.4BMPR2, BMP2, BMPR1B
4
Show member pathways
BMP receptor signaling39
BMP signalling and regulation39
BMP Signalling Pathway39
9.4BMP2, BMPR1B, BMPR2
59.4BMPR2, ACVRL1, BMP2
6
Show member pathways
9.1ACVRL1, BMPR1B, BMPR2, BMP2
7
Show member pathways
9.1BMPR2, BMP2, BMPR1B, ACVRL1
89.1BMPR2, ACVRL1, BMP2, BMPR1B
9
Show member pathways
9.1ACVRL1, BMPR1B, BMP2, BMPR2
109.1EDN1, NPPA, NPPB
11
Show member pathways
8.6NPPB, BMPR1B, NPPA, BMP2, BMPR2
128.6NPPA, BMPR2, BMP2, BMPR1B, NPPB
13
Show member pathways
8.1BMPR1B, BMPR2, ADM, EDN1, FGA, BMP2
14
Show member pathways
7.7BMP2, ALOX5, BMPR2, BMPR1B, ACVRL1, EDN1

Compounds for genes affiliated with Primary Pulmonary Hypertension

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

(show top 50)    (show all 148)
idCompoundScoreTop Affiliating Genes
1mibg469.5NPPB, ADM, NPPA
28-bromo cgmp469.5ADM, NPPA, NPPB
3ptca469.5THBD, FGA, NPPB, ADM
4perindopril46 52 1211.4NPPB, THBD, NPPA
5urodilatin469.4NPPB, EDN1, NPPA
6bosentan46 1210.4NPPB, ADM, EDN1
7hanp469.4NPPB, EDN1, NPPA
8trandolapril46 1210.4NPPB, NPPA, EDN1
9enalaprilat469.3NPPB, NPPA, EDN1
10omapatrilat469.3NPPA, ADM, EDN1
11thiorphan46 30 1211.2NPPA, ADM, EDN1
12pge1469.2FGA, NPPA, ADM, THBD
13spec-t469.1NPPB, ADM, NPPA, SLC6A4
146-ketoprostaglandin f1alpha469.1FGA, NPPA, THBD, EDN1
15carvedilol46 52 30 1212.1EDN1, NPPA, NPPB, ADM
16phosphoramidon46 1210.1EDN1, ADM, NPPB, NPPA
17nitroglycerin46 1210.0EDN1, NPPB, NPPA, ADM
18ang ii469.0EDN1, NPPB, ADM, NPPA
19captopril46 62 52 30 1213.0ADM, NPPA, NPPB, EDN1
20l-nmma469.0NPPA, EDN1, NPPB, ADM
21phenylephrine46 30 25 1211.9EDN1, ADM, NPPA, NPPB
22sildenafil30 46 52 25 1212.9EDN1, NPPB, NPPA, SLC6A4
23sodium nitroprusside468.8NPPB, ADM, NPPA, EDN1
24potassium46 25 1210.8KCNK3, ADM, BMPR2, NPPA, FGA
25txb2468.7THBD, EDN1, FGA, ALOX5
26atorvastatin46 52 30 25 1212.7EDN1, THBD, NPPB, BMP2
27losartan46 52 30 1211.7EDN1, NPPA, NPPB, ADM, THBD
28thromboxane46 259.7THBD, FGA, EDN1, ALOX5
29cgmp46 309.6EDN1, ADM, NPPA, NPPB
30thromboxane a246 259.6ADM, ALOX5, EDN1, FGA
31ibmx46 62 3010.5THBD, NPPA, EDN1, ADM, BMP2
32nifedipine46 30 52 1211.4EDN1, NPPA, THBD, BMP2
33thymidine46 259.4BMPR2, NPPB, FGA, EDN1, BMP2, ADM
34actinomycin d468.3EDN1, THBD, ADM, BMP2, NPPB
35norepinephrine46 25 1210.2NPPA, ADM, FGA, NPPB, EDN1, SLC6A4
36cyclosporin a46 30 6210.1EDN1, THBD, ADM, BMP2, NPPA, NPPB
37sodium46 259.1ADM, NPPA, NPPB, SLC6A4, THBD, EDN1
38forskolin46 52 1210.1NPPB, NPPA, ADM, BMP2, THBD
39indomethacin46 30 62 1211.0BMP2, NPPB, EDN1, ADM, ALOX5
40histamine46 30 2510.0EDN1, FGA, NPPB, ALOX5, ADM, THBD
41nitric oxide46 25 129.9ADM, NPPA, NPPB, THBD, BMPR2, BMP2
42creatinine467.9NPPB, THBD, BMP2, FGA, ADM, EDN1
43prostacyclin467.6NPPA, ADM, EDN1, FGA, THBD, NPPB
44epinephrine46 25 129.4NPPB, NPPA, ADM, EDN1, SLC6A4, ALOX5
45pge2467.4EDN1, FGA, NPPB, NPPA, ALOX5, BMP2
46oxygen46 258.4BMP2, NPPB, EDN1, ADM, NPPA, ALOX5
47estrogen467.3SLC6A4, ADM, THBD, NPPB, NPPA, BMP2
48serine467.2BMPR2, ALOX5, NPPB, SLC6A4, FGA, BMPR1B
49vegf467.1NPPA, ADM, ALOX5, BMP2, ACVRL1, THBD
50arginine466.3EDN1, BMP2, BMPR2, ALOX5, NPPA, NPPB

GO Terms for genes affiliated with Primary Pulmonary Hypertension

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17Gene Ontology
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Cellular components related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099868.6THBD, ACVRL1, BMP2, BMPR2, FGA
2integral component of plasma membraneGO:0058878.2THBD, KCNK3, ACVRL1, BMPR1B, BMPR2, SLC6A4
3extracellular regionGO:0055767.8FGA, NPPB, NPPA, BMP2, ADM, EDN1
4extracellular spaceGO:0056156.1FGA, EDN1, THBD, ADM, CBLN2, BMP2

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

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1venous blood vessel developmentGO:06084110.3BMPR2, ACVRL1
2lymphatic endothelial cell differentiationGO:06083610.3BMPR2, ACVRL1
3negative regulation of DNA biosynthetic processGO:200027910.3ACVRL1, BMPR2
4retina vasculature development in camera-type eyeGO:06129810.3ACVRL1, BMPR2
5artery developmentGO:06084010.3ACVRL1, BMPR2
6lymphangiogenesisGO:00194610.3ACVRL1, BMPR2
7negative regulation of vasoconstrictionGO:04590610.2BMPR2, ADM
8activin receptor signaling pathwayGO:03292410.2ACVRL1, BMPR2
9negative regulation of systemic arterial blood pressureGO:00308510.2BMPR2, NPPA
10positive regulation of BMP signaling pathwayGO:03051310.1ACVRL1, BMPR2
11cGMP biosynthetic processGO:00618210.0NPPA, NPPB
12receptor guanylyl cyclase signaling pathwayGO:00716810.0NPPA, NPPB
13regulation of blood vessel sizeGO:05088010.0NPPA, NPPB
14cellular response to BMP stimulusGO:0717739.9BMP2, ACVRL1
15body fluid secretionGO:0075899.9NPPB, EDN1
16positive regulation of bone mineralizationGO:0305019.8BMPR1B, BMP2, BMPR2
17positive regulation of osteoblast differentiationGO:0456699.8BMPR1B, BMP2, BMPR2
18positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.8BMPR2, BMP2, ACVRL1
19positive regulation of endothelial cell proliferationGO:0019389.8ACVRL1, BMP2, BMPR2
20positive regulation of urine volumeGO:0358109.8NPPB, EDN1
21negative regulation of blood coagulationGO:0301959.8THBD, EDN1
22positive regulation of renal sodium excretionGO:0358159.8EDN1, NPPB
23regulation of blood pressureGO:0082179.8NPPB, NPPA, ACVRL1
24blood circulationGO:0080159.8ACVRL1, ADM
25positive regulation of heart rateGO:0104609.8ADM, EDN1
26positive regulation of odontogenesisGO:0424829.7BMP2, EDN1
27dorsal/ventral pattern formationGO:0099539.6BMPR1B, EDN1
28blood vessel remodelingGO:0019749.6ACVRL1, BMPR2
29positive regulation of endothelial cell migrationGO:0105959.6BMPR2, EDN1
30female pregnancyGO:0075659.6NPPA, ADM, THBD
31chondrocyte differentiationGO:0020629.6BMPR1B, BMP2
32vasoconstrictionGO:0423109.6EDN1, SLC6A4
33BMP signaling pathwayGO:0305099.5ACVRL1, BMPR1B, BMP2, BMPR2
34negative regulation of cell growthGO:0303089.5ACVRL1, BMPR2, NPPA, NPPB
35response to lipopolysaccharideGO:0324969.4EDN1, THBD, ADM
36in utero embryonic developmentGO:0017019.2BMP2, ACVRL1, EDN1
37heart developmentGO:0075079.1BMP2, ADM, EDN1
38cell-cell signalingGO:0072679.0EDN1, ADM, BMP2
39response to hypoxiaGO:0016668.4SLC6A4, NPPA, BMP2, ADM, EDN1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor activity, type IGO:00502510.0BMPR1B, ACVRL1
2receptor signaling protein serine/threonine kinase activityGO:0047029.9BMPR1B, ACVRL1
3transmembrane receptor protein serine/threonine kinase activityGO:0046759.8ACVRL1, BMPR1B
4transforming growth factor beta-activated receptor activityGO:0050249.6BMPR2, ACVRL1
5SMAD bindingGO:0463329.5ACVRL1, BMPR1B, BMP2
6hormone activityGO:0051798.8NPPB, NPPA, ADM, EDN1
7receptor bindingGO:0051028.6ADM, BMP2, NPPA, NPPB, FGA
8protein bindingGO:0055156.1EDN1, THBD, ADM, ACVRL1, BMPR1B, BMP2

Products for genes affiliated with Primary Pulmonary Hypertension

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Sources for Primary Pulmonary Hypertension

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet