PAH
MCID: PRM021
MIFTS: 77

Primary Pulmonary Hypertension (PAH) malady

Genetic diseases, Rare diseases, Respiratory diseases, Cardiovascular diseases categories
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Summaries for Primary Pulmonary Hypertension

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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 based summary: Primary Pulmonary Hypertension, also known as idiopathic pulmonary hypertension, is related to connective tissue disease and hypertension, and has symptoms including 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 bone, and related mouse phenotypes are respiratory system and digestive/alimentary.

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).

Descriptions from OMIM:46 178600,265400

Aliases & Classifications for Primary Pulmonary Hypertension

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Sources:
8Disease Ontology, 65Wikipedia, 62UMLS, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 57SNOMED-CT, 34MeSH, 27ICD9CM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Primary Pulmonary Hypertension, Aliases & Descriptions:

Name: Primary Pulmonary Hypertension 8 65 42 22 21 10 44
Idiopathic Pulmonary Hypertension 65 42 21 62
Idiopathic Pulmonary Arterial Hypertension 42 48 62
Sporadic Primary Pulmonary Hypertension 65 21 62
Familial Primary Pulmonary Hypertension 65 21 62
Pulmonary Arterial Hypertension 65 42 21
Pulmonary Hypertension 8 65 62
Ayerza Syndrome 65 21 62
Pph 65 42 21
 
Hereditary Pulmonary Arterial Hypertension 42 62
Heritable Pulmonary Arterial Hypertension 42 62
Ipah 48 62
Pah 42 21
Familial Pulmonary Arterial Hypertension 42
Pulmonary Hypertension, Idiopathic 8
Ppht 21
Fpph 21
Fpah 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14557
MeSH34 C536282
ICD9CM27 416.0
ICD10 via Orphanet26 I27.0
UMLS via Orphanet63 C3203102

Related Diseases for Primary Pulmonary Hypertension

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Diseases in the Primary Pulmonary Hypertension family:

Pulmonary Hypertension 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 477)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue disease31.8THBD
2hypertension31.7NPPA, BMPR2, ADM, SLC6A4, EDN1, NPPB
3mixed connective tissue disease31.4ACVRL1, BMPR2
4eisenmenger syndrome31.4THBD
5pulmonary embolism31.3FGA, NPPB
6congenital heart disease31.0SLC6A4, NPPB, NPPA
7hypertensive heart disease30.9NPPB, NPPA
8pulmonary hypertension30.8THBD, ADM, FGA, SLC6A4, NPPB, NPPA
9aortic valve stenosis30.8NPPA, BMP2, NPPB
10dysfibrinogenemia30.7THBD, FGA
11mitral valve stenosis30.6FGA, NPPB, NPPA
12central sleep apnea30.6NPPB, KCNK3
13congestive heart failure30.6NPPB, EDN1, ADM, NPPA
14adult respiratory distress syndrome30.6ALOX5, THBD
15telangiectasis30.5BMPR2, ACVRL1
16portal hypertension30.5EDN1, BMPR2
17telangiectasia, hereditary hemorrhagic, type 530.5ACVRL1, BMPR2
18renal hypertension30.3ADM, EDN1
19thrombocytopenia30.3THBD, ALOX5, FGA
20kawasaki disease30.3ADM, NPPB
21hepatorenal syndrome30.3NPPA, EDN1
22cor pulmonale30.3NPPA, NPPB, EDN1, BMPR2
23dilated cardiomyopathy30.2NPPB, EDN1, NPPA, FGA
24ischemia30.1NPPB, ALOX5, FGA, ADM, EDN1
25septic shock30.1FGA, NPPB, THBD, ADM
26liver cirrhosis30.0NPPA, ADM, ALOX5, EDN1
27systemic scleroderma29.9EDN1, THBD, ALOX5, FGA
28sepsis29.8THBD, ADM, FGA, NPPB, ALOX5
29vascular disease29.7EDN1, FGA, BMPR2, ACVRL1, THBD, SLC6A4
30atherosclerosis29.6THBD, ACVRL1, BMP2, ALOX5, FGA, EDN1
31myocardial infarction29.6SLC6A4, FGA, NPPB, EDN1, NPPA, ADM
32cerebrovascular disease29.5FGA, NPPB, NPPA, ALOX5, ADM, THBD
33chronic thromboembolic pulmonary hypertension11.2
34phenylketonuria10.8
35hypoxia10.8
36interstitial lung disease10.6
37obstructive lung disease10.6
38congenital diaphragmatic hernia10.6
39alveolar capillary dysplasia10.6
40thromboembolism10.6
41bronchopulmonary dysplasia10.6
42ventricular septal defect10.5
43patent ductus arteriosus10.5
44familial pulmonary arterial hypertension leucopenia and atrial septal defect10.5
45chronic obstructive pulmonary disease10.5
46idiopathic pulmonary fibrosis10.5
47transposition of the great arteries10.5
48systemic lupus erythematosus10.4
49lupus erythematosus10.4
50sarcoidosis10.4

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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Clinical features from OMIM:

178600,265400

HPO human phenotypes related to Primary Pulmonary Hypertension:

(show all 12)
id Description Frequency HPO Source Accession
1 respiratory insufficiency hallmark (90%) HP:0002093
2 chest pain hallmark (90%) HP:0100749
3 hepatomegaly typical (50%) HP:0002240
4 vertigo typical (50%) HP:0002321
5 edema of the lower limbs typical (50%) HP:0010741
6 acrocyanosis occasional (7.5%) HP:0001063
7 ascites occasional (7.5%) HP:0001541
8 congestive heart failure occasional (7.5%) HP:0001635
9 sudden cardiac death occasional (7.5%) HP:0001645
10 abnormality of the tricuspid valve occasional (7.5%) HP:0001702
11 hemoptysis occasional (7.5%) HP:0002105
12 recurrent respiratory infections occasional (7.5%) HP:0002205

Drugs & Therapeutics for Primary Pulmonary Hypertension

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Drug clinical trials:

Search ClinicalTrials for Primary Pulmonary Hypertension

Search NIH Clinical Center for Primary Pulmonary Hypertension

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Primary Pulmonary Hypertension

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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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MalaCards organs/tissues related to Primary Pulmonary Hypertension:

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

Animal Models for Primary Pulmonary Hypertension or affiliated genes

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MGI Mouse Phenotypes related to Primary Pulmonary Hypertension:

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

Publications for Primary Pulmonary Hypertension

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Articles related to Primary Pulmonary Hypertension:

(show top 50)    (show all 506)
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
Exudative retinal detachment and angle closure glaucoma as the presenting signs of primary pulmonary hypertension. (25389875)
2011
5
Cesarean section and primary pulmonary hypertension: the role of intravenous dexmedetomidine. (19157850)
2009
6
Decreased whole body endogenous nitric oxide production in patients with primary pulmonary hypertension. (15665548)
2005
7
HIV-associated primary pulmonary hypertension: a first case report in Thailand and literature review. (16241029)
2005
8
Lack of human herpesvirus 8 infection in lungs of Japanese patients with primary pulmonary hypertension. (15688289)
2005
9
End-tidal PCO2 abnormality and exercise limitation in patients with primary pulmonary hypertension. (15888840)
2005
10
Phosphodiesterase inhibitors in the management of primary pulmonary hypertension. (15133384)
2004
11
Primary pulmonary hypertension in children may have a different genetic background than in adults. (15295086)
2004
12
Primary pulmonary hypertension: molecular basis and potential for therapy. (15005857)
2004
13
Therapy for primary pulmonary hypertension. (12712230)
2003
14
Low-dose systemic phosphodiesterase III inhibitor pimobendan combined with prostacyclin therapy in a patient with severe primary pulmonary hypertension. (14696637)
2003
15
Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension. (12221115)
2002
16
Significance of a plasma D-dimer test in patients with primary pulmonary hypertension. (12426270)
2002
17
Survival in primary pulmonary hypertension: the impact of epoprostenol therapy. (12234951)
2002
18
Oxidative stress in patients with primary pulmonary hypertension. (12447471)
2002
19
Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity. (11250282)
2001
20
Esophageal variceal ligation for esophageal variceal hemorrhage in a patient with portal and primary pulmonary hypertension complicating myelofibrosis. (11330433)
2001
21
Plasma brain natriuretic peptide as a prognostic indicator in patients with primary pulmonary hypertension]. (11255693)
2001
22
Aerosolised iloprost improves pulmonary haemodynamics in patients with primary pulmonary hypertension receiving continuous epoprostenol treatment. (11514696)
2001
23
Pulmonary artery pulse pressure and wave reflection in chronic pulmonary thromboembolism and primary pulmonary hypertension. (11263613)
2001
24
Current management of primary pulmonary hypertension. (11708765)
2001
25
HOX genes in human lung: altered expression in primary pulmonary hypertension and emphysema. (11238043)
2001
26
Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred. (11484688)
2001
27
Primary pulmonary hypertension with severe systemic hypertension, Raynaud's phenomenon and relative polycythemia. (11579954)
2001
28
The enigma of primary pulmonary hypertension. (11300467)
2001
29
Primary pulmonary hypertension. World Health Organization. (11221172)
2000
30
Primary pulmonary hypertension with central sleep apnea: sudden death after bilevel positive airway pressure therapy. (10981861)
2000
31
Aerosolized iloprost for primary pulmonary hypertension. (11183891)
2000
32
Treatment with epoprostenol reverts nitric oxide non-responsiveness in patients with primary pulmonary hypertension. (10722538)
2000
33
Exercise testing in children with primary pulmonary hypertension. (9861081)
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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Clinvar genetic disease variations for Primary Pulmonary Hypertension:

6 (show all 14)
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

Expression for genes affiliated with Primary Pulmonary Hypertension

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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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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 pathway37
9.9BMPR2, ACVRL1
2
Show member pathways
9.4BMPR2, BMP2, BMPR1B
39.4BMPR1B, BMP2, BMPR2
4
Show member pathways
BMP receptor signaling37
BMP signalling and regulation37
BMP Signalling Pathway37
9.4BMPR1B, BMP2, BMPR2
59.4ACVRL1, BMP2, BMPR2
6
Show member pathways
9.1BMPR2, BMP2, BMPR1B, ACVRL1
79.1BMPR2, BMP2, BMPR1B, ACVRL1
8
Show member pathways
9.1BMPR1B, BMP2, BMPR2, ACVRL1
9
Show member pathways
9.1ACVRL1, BMPR1B, BMP2, BMPR2
109.1EDN1, NPPA, NPPB
118.6NPPB, NPPA, BMPR2, BMP2, BMPR1B
12
Show member pathways
8.6BMPR1B, BMP2, BMPR2, NPPA, NPPB
13
Show member pathways
8.1EDN1, ADM, BMPR1B, BMP2, BMPR2, FGA
14
Show member pathways
7.7EDN1, ACVRL1, BMPR1B, BMP2, BMPR2, ALOX5

Compounds for genes affiliated with Primary Pulmonary Hypertension

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Compounds related to Primary Pulmonary Hypertension according to GeneCards/GeneDecks:

(show top 50)    (show all 148)
idCompoundScoreTop Affiliating Genes
1mibg449.5NPPB, ADM, NPPA
28-bromo cgmp449.5ADM, NPPA, NPPB
3ptca449.5THBD, FGA, NPPB, ADM
4perindopril44 50 1111.4NPPB, THBD, NPPA
5urodilatin449.4NPPB, EDN1, NPPA
6bosentan44 1110.4NPPB, ADM, EDN1
7hanp449.4NPPB, EDN1, NPPA
8trandolapril44 1110.4NPPB, NPPA, EDN1
9enalaprilat449.3NPPB, NPPA, EDN1
10omapatrilat449.3NPPA, ADM, EDN1
11thiorphan44 28 1111.2NPPA, ADM, EDN1
12pge1449.2FGA, NPPA, ADM, THBD
13spec-t449.1NPPB, ADM, NPPA, SLC6A4
146-ketoprostaglandin f1alpha449.1FGA, NPPA, THBD, EDN1
15carvedilol44 50 28 1112.1EDN1, NPPA, NPPB, ADM
16phosphoramidon44 1110.1EDN1, ADM, NPPB, NPPA
17nitroglycerin44 1110.0EDN1, NPPB, NPPA, ADM
18ang ii449.0EDN1, NPPB, ADM, NPPA
19captopril44 61 50 28 1113.0ADM, NPPA, NPPB, EDN1
20l-nmma449.0NPPA, EDN1, NPPB, ADM
21phenylephrine44 28 24 1111.9EDN1, ADM, NPPA, NPPB
22sildenafil28 44 50 24 1112.9EDN1, NPPB, NPPA, SLC6A4
23sodium nitroprusside448.8NPPB, ADM, NPPA, EDN1
24potassium44 24 1110.8KCNK3, ADM, BMPR2, NPPA, FGA
25txb2448.7THBD, EDN1, FGA, ALOX5
26atorvastatin44 50 28 24 1112.7EDN1, THBD, NPPB, BMP2
27losartan44 50 28 1111.7EDN1, NPPA, NPPB, ADM, THBD
28thromboxane44 249.7THBD, FGA, EDN1, ALOX5
29cgmp44 289.6EDN1, ADM, NPPA, NPPB
30thromboxane a244 249.6ADM, ALOX5, EDN1, FGA
31ibmx44 61 2810.5THBD, NPPA, EDN1, ADM, BMP2
32nifedipine44 28 50 1111.4EDN1, NPPA, THBD, BMP2
33thymidine44 249.4BMPR2, NPPB, FGA, EDN1, BMP2, ADM
34actinomycin d448.3EDN1, THBD, ADM, BMP2, NPPB
35norepinephrine44 24 1110.2NPPA, ADM, FGA, NPPB, EDN1, SLC6A4
36cyclosporin a44 28 6110.1EDN1, THBD, ADM, BMP2, NPPA, NPPB
37sodium44 249.1ADM, NPPA, NPPB, SLC6A4, THBD, EDN1
38forskolin44 50 1110.1NPPB, NPPA, ADM, BMP2, THBD
39indomethacin44 28 61 1111.0BMP2, NPPB, EDN1, ADM, ALOX5
40histamine44 28 2410.0EDN1, FGA, NPPB, ALOX5, ADM, THBD
41nitric oxide44 24 119.9ADM, NPPA, NPPB, THBD, BMPR2, BMP2
42creatinine447.9NPPB, THBD, BMP2, FGA, ADM, EDN1
43prostacyclin447.6NPPA, ADM, EDN1, FGA, THBD, NPPB
44epinephrine44 24 119.4NPPB, NPPA, ADM, EDN1, SLC6A4, ALOX5
45pge2447.4EDN1, FGA, NPPB, NPPA, ALOX5, BMP2
46oxygen44 248.4BMP2, NPPB, EDN1, ADM, NPPA, ALOX5
47estrogen447.3SLC6A4, ADM, THBD, NPPB, NPPA, BMP2
48serine447.2BMPR2, ALOX5, NPPB, SLC6A4, FGA, BMPR1B
49vegf447.1NPPA, ADM, ALOX5, BMP2, ACVRL1, THBD
50arginine446.3EDN1, BMP2, BMPR2, ALOX5, NPPA, NPPB

GO Terms for genes affiliated with Primary Pulmonary Hypertension

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet