MCID: PLM037
MIFTS: 85

Pulmonary Hypertension malady

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

Summaries for Pulmonary Hypertension

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NIH Rare Diseases:41 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: Pulmonary Hypertension, also known as primary pulmonary hypertension, is related to connective tissue disease and eisenmenger syndrome, and has symptoms including respiratory insufficiency, chest pain and hepatomegaly. An important gene associated with Pulmonary Hypertension is BMPR2 (bone morphogenetic protein receptor, type II (serine/threonine kinase)), and among its related pathways are ALK2 signaling events and Hippo signaling pathway. The drugs alprostadil and nitroglycerin and the compounds monocrotaline and urodilatin have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Disease Ontology:9 A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.

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:32 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 Pulmonary hypertension occurs when the pressure in the blood vessels leading from the heart to the lungs is too high. The heart pumps blood from the right ventricle to the lungs to get oxygen. Because the blood does not have to travel very far, the pressure in this side of the heart and in the artery taking blood from the right ventricle to the lungs is normally low—normally much lower than systolic or diastolic blood pressure. When the pressure in this artery gets too high, the arteries in the lungs can narrow and then the blood does not flow as well as it should resulting in less oxygen in the blood.1

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

Aliases & Classifications for Pulmonary Hypertension

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Sources:
31MalaCards, 30LifeMap Discovery®, 9Disease Ontology, 63Wikipedia, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 32MedlinePlus, 3CDC, 60UMLS, 55SNOMED-CT, 33MeSH, 27ICD9CM, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Pulmonary Hypertension, Aliases & Descriptions:

Name: Pulmonary Hypertension 31 30 9 63 11 32 3 60
Primary Pulmonary Hypertension 31 9 63 41 21 11 43 22
Idiopathic Pulmonary Hypertension 63 41 21 60
Pulmonary Arterial Hypertension 63 41 21 60
Idiopathic Pulmonary Arterial Hypertension 41 47 60
Sporadic Primary Pulmonary Hypertension 63 21 60
Familial Primary Pulmonary Hypertension 63 21 60
Pph 63 41 21
Idiopathic and/or Familial Pulmonary Arterial Hypertension 41 47
Heritable Pulmonary Arterial Hypertension 41 60
Ayerza Syndrome 63 21
 
Pah 41 21
Hereditary Pulmonary Arterial Hypertension 41
Familial Pulmonary Arterial Hypertension 41
Primary Pulmonary Arterial Hypertension 47
Hypertension Pulmonary 43
Ayerza's Syndrome 60
Fpph 21
Ipah 47
Fpah 41
Ppht 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
idiopathic pulmonary arterial hypertension:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/1000000 (Spain),1-9/100000 (Czech Republic),1-9/1000000 (Czech Republic),1-9/1000000 (Switzerland),1-9/1000000 (United Kingdom),1-9/100000 (United Kingdom),1-9/1000000 (United States),1-9/1000000 (Belgium),1-9/1000000 (Israel),1-9/100000 (Europe); Age of onset: All ages; Age of death: adult
idiopathic and/or familial pulmonary arterial hypertension:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (France),1-9/100000 (Czech Republic),1-9/1000000 (Czech Republic),1-9/100000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

Disease Ontology9 DOID:14557, DOID:6432
ICD9CM27 416.0
NCIt38 C3120
Orphanet47 275766, 422
ICD10 via Orphanet26 I27.0
UMLS via Orphanet61 C3203102
ICD1025 I27.0

Related Diseases for Pulmonary Hypertension

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Diseases in the Pulmonary Hypertension family:

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

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

(show top 50)    (show all 467)
idRelated DiseaseScoreTop Affiliating Genes
1connective tissue disease31.9THBD
2eisenmenger syndrome31.8THBD
3cor pulmonale31.5NPPB, NPPA, BMPR2, EDN1
4mixed connective tissue disease31.5ACVRL1, BMPR2
5congenital heart disease31.5SLC6A4, NPPB, NPPA
6pulmonary embolism31.4NPPB, FGA
7pulmonary hypertension, primary, 231.2SMAD9, PPH2
8hereditary hemorrhagic telangiectasia31.2BMPR2, ACVRL1
9central sleep apnea31.0KCNK3, NPPB
10hypertensive heart disease31.0NPPB, NPPA
11congestive heart failure31.0ADM, NPPA, NPPB, EDN1, NPR3
12mitral valve stenosis30.9FGA, NPPB, NPPA
13dysfibrinogenemia30.8THBD, FGA
14vascular disease30.7CAV1, PTGIS, THBD, EDN1, BMPR2, FGA
15systemic scleroderma30.6EDN1, FGA, THBD
16renal hypertension30.6EDN1, ADM
17dilated cardiomyopathy30.6FGA, EDN1, NPPA, NPPB
18telangiectasis30.6BMPR2, ACVRL1
19ischemia30.6ADM, CAV1, PTGIS, NPPB, FGA, EDN1
20fibrodysplasia ossificans progressiva30.6SMAD9, BMP2
21liver cirrhosis30.6EDN1, ADM, NPPA, CAV1
22hepatorenal syndrome30.5EDN1, NPPA
23myocardial infarction30.5ADM, NPPB, EDN1, PTGIS, FGA, SLC6A4
24atrial fibrillation30.5NPPA, NPPB, FGA
25coronary artery disease30.4NPPB, THBD, EDN1, FGA
26portal hypertension30.4BMPR2, EDN1
27lung cancer30.4PTGIS, FGA, BMP2, CAV1
28kawasaki disease30.2NPPB, ADM
29adenocarcinoma30.1ADM, PTGIS, CAV1, THBD, BMP2
30atherosclerosis30.0BMP2, ACVRL1, PTGIS, THBD, EDN1, CAV1
31chronic thromboembolic pulmonary hypertension11.3
32phenylketonuria11.1
33endotheliitis10.9
34hypoxia10.8
35pulmonary fibrosis10.6
36interstitial lung disease10.6
37scleroderma10.6
38bronchopulmonary dysplasia10.6
39congenital diaphragmatic hernia10.6
40obstructive lung disease10.6
41alveolar capillary dysplasia10.6
42ventricular septal defect10.5
43familial pulmonary arterial hypertension leucopenia and atrial septal defect10.5
44patent ductus arteriosus10.5
45sickle cell disease10.5
46poems syndrome10.5
47brachydactyly, type a210.5BMP2, BMPR1B
48sick sinus syndrome10.5NPPA
49osteochondroma10.5BMP2
50lupus erythematosus10.5

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



Diseases related to pulmonary hypertension

Symptoms for Pulmonary Hypertension

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HPO human phenotypes related to 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 Pulmonary Hypertension

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Drug clinical trials:

Search ClinicalTrials for Pulmonary Hypertension

Search NIH Clinical Center for Pulmonary Hypertension

Inferred drug relations via UMLS60/NDF-RT39:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Pulmonary Hypertension cell therapies at LifeMap Discovery.

Genetic Tests for Pulmonary Hypertension

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Genetic tests related to Pulmonary Hypertension:

id Genetic test Affiliating Genes
1 Primary Pulmonary Hypertension22

Anatomical Context for Pulmonary Hypertension

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MalaCards organs/tissues related to Pulmonary Hypertension:

31
Lung, Heart, Kidney, Endothelial, Smooth muscle, Brain, Bone, Liver, Testes, Monocytes, Thyroid, T cells, Placenta, Neutrophil, Lymph node, Spleen, Myeloid, B cells

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Animal Models for Pulmonary Hypertension or affiliated genes

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Publications for Pulmonary Hypertension

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Articles related to Pulmonary Hypertension:

(show top 50)    (show all 2135)
idTitleAuthorsYear
1
Poor sleep quality is associated with exercise limitation in precapillary pulmonary hypertension. (25888026)
2015
2
Severe pulmonary hypertension in adult pulmonary Langerhans cell histiocytosis: the effect of sildenafil as a bridge to lung transplantation. (25175135)
2014
3
Recent advances of pulmonary endarterectomy for chronic thromboembolic pulmonary hypertension including Japanese experiences. (24068659)
2014
4
Unexpected 'pulmonary hypertension' in a patient with granulomatosis with polyangiitis. (25209599)
2014
5
Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia. (23770923)
2013
6
Reversal of pulmonary hypertension after diaphragm pacing in an adult patient with congenital central hypoventilation syndrome. (23653299)
2013
7
Balloon pulmonary angioplasty in patients with inoperable chronic thromboembolic pulmonary hypertension. (23846611)
2013
8
Pulmonary hypertension complicated by pericardial effusion: a single center experience. (23258502)
2013
9
Clinical outcomes of thromboendarterectomy for chronic thromboembolic pulmonary hypertension: 12-year experience. (23423163)
2013
10
Effect of bosentan on pulmonary hypertension secondary to systolic heart failure. (24296902)
2013
11
Risk factors and mortality among newborns with persistent pulmonary hypertension. (24353699)
2013
12
Severe pulmonary hypertension in idiopathic nonspecific interstitial pneumonia. (22558525)
2012
13
Terlipressin as rescue therapy for refractory pulmonary hypertension in a neonate with a congenital diaphragmatic hernia. (21292065)
2011
14
Measures of systemic sclerosis (scleroderma): Health Assessment Questionnaire (HAQ) and Scleroderma HAQ (SHAQ), physician- and patient-rated global assessments, Symptom Burden Index (SBI), University of California, Los Angeles, Scleroderma Clinical Trials Consortium Gastrointestinal Scale (UCLA SCTC GIT) 2.0, Baseline Dyspnea Index (BDI) and Transition Dyspnea Index (TDI) (Mahler's Index), Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR), and Raynaud's Condition Score (RCS). (22588774)
2011
15
Acute pulmonary hypertension in infants and children: cGMP-related drugs. (20216161)
2010
16
Regulation of soluble guanylyl cyclase-alpha1 expression in chronic hypoxia-induced pulmonary hypertension: role of NFATc3 and HuR. (19592461)
2009
17
Cesarean section and primary pulmonary hypertension: the role of intravenous dexmedetomidine. (19157850)
2009
18
Long-term outcome after pulmonary endarterectomy for chronic thromboembolic pulmonary hypertension: a single institution experience. (19272789)
2009
19
Pulmonary hypertension and cor pulmonale during severe acute chest syndrome in sickle cell disease. (18174543)
2008
20
Spontaneous short-term variations of circulating endothelin-1 in pulmonary hypertension. (18279809)
2008
21
Pulmonary hypertension associated with autoimmune hemolytic anemia: a case report. (16889843)
2007
22
Changes of the levels of adrenomedulin, endothelin-1 and nitric oxide in children with pulmonary hypertension secondary to congenital heart disease]. (18211765)
2007
23
Physiological significance and therapeutic potential of adrenomedullin in pulmonary hypertension. (16787197)
2006
24
Cross talk between endothelial and smooth muscle cells in pulmonary hypertension: critical role for serotonin-induced smooth muscle hyperplasia. (16606791)
2006
25
Effects of pulmonary thromboendarterectomy on right-sided echocardiographic parameters in patients with chronic thromboembolic pulmonary hypertension. (16770978)
2006
26
Pulmonary hypertension in human newborns with congenital diaphragmatic hernia is associated with decreased vascular expression of nitric-oxide synthase. (16456243)
2006
27
Decreased whole body endogenous nitric oxide production in patients with primary pulmonary hypertension. (15665548)
2005
28
Thrombotic, fibrinolytic and proliferative activities of pulmonary vascular bed in secondary pulmonary hypertension]. (15939682)
2005
29
Surfactant phospholipids and proteins are increased in fetal sheep with pulmonary hypertension secondary to fetal systemic arteriovenous fistula. (15557086)
2005
30
Simvastatin treatment of pulmonary hypertension: an observational case series. (15821229)
2005
31
Pulmonary hypertension after splenectomy in hereditary stomatocytosis. (16234613)
2005
32
Phosphodiesterase inhibitors in the management of primary pulmonary hypertension. (15133384)
2004
33
Primary pulmonary hypertension in children may have a different genetic background than in adults. (15295086)
2004
34
Brain-type natriuretic peptide in the diagnosis and management of persistent pulmonary hypertension of the newborn. (15520111)
2004
35
Gene transfer of hepatocyte growth factor with prostacyclin synthase in severe pulmonary hypertension of rats. (15541968)
2004
36
Pulmonary hypertension in transgenic mice expressing a dominant-negative BMPRII gene in smooth muscle. (15031260)
2004
37
Functional heterogeneity of bone morphogenetic protein receptor-II mutants found in patients with primary pulmonary hypertension. (12221115)
2002
38
Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity. (11250282)
2001
39
Surgical treatment of chronic thromboembolic pulmonary hypertension. (10700671)
2000
40
Primary pulmonary hypertension. World Health Organization. (11221172)
2000
41
Primary pulmonary hypertension: pathologist as patient. (9670148)
1998
42
Familial primary pulmonary hypertension locus mapped to chromosome 2q31-q32. (9676630)
1998
43
Congenital cytomegalovirus infection presenting as severe persistent pulmonary hypertension of the newborn. (9659657)
1998
44
Absence of hyperhomocysteinemia in ten patients with primary pulmonary hypertension. (9058503)
1997
45
Effects of thromboxane A2 receptor antagonist, KT2-962 on pulmonary hypertensive responses to antigen challenge in isolated sensitized rabbit lung]. (7699820)
1995
46
Pulmonary hypertension. Response of vasoactive peptides to a nonionic contrast medium in patients undergoing pulmonary angiography. (8537207)
1995
47
Atrial natriuretic peptide concentrations in children with pulmonary hypertension: correlation with hemodynamic measurements. (7838802)
1994
48
Elevated immunoreactive endothelin-1 levels in newborn infants with persistent pulmonary hypertension. (8320603)
1993
49
Increased plasma endothelin-1 in pulmonary hypertension: marker or mediator of disease? (1994793)
1991
50
An infant with the scimitar syndrome and pulmonary hypertension; successful surgical intervention. (3569313)
1987

Variations for Pulmonary Hypertension

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Clinvar genetic disease variations for Pulmonary Hypertension:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1CAV1NM_001753.4(CAV1): c.401_402delTTinsA (p.Ile134Lysfs)indelPathogenicGRCh37Chr 7, 116199205: 116199206
2CAV1NM_001753.4(CAV1): c.474delA (p.Leu159Serfs)deletionPathogenicGRCh37Chr 7, 116199278: 116199278
3CAV1CAV1, 1-BP DEL, 473CdeletionPathogenic
4SMAD9NM_001127217.2(SMAD9): c.127A> G (p.Lys43Glu)single nucleotide variantPathogenicrs397514715GRCh37Chr 13, 37453700: 37453700
5SMAD9NM_001127217.2(SMAD9): c.880C> T (p.Arg294Ter)single nucleotide variantPathogenicrs397514716GRCh37Chr 13, 37439797: 37439797
6KCNK3NM_002246.2(KCNK3): c.608G> A (p.Gly203Asp)single nucleotide variantPathogenicrs398123039GRCh37Chr 2, 26950859: 26950859
7KCNK3NM_002246.2(KCNK3): c.289G> A (p.Gly97Arg)single nucleotide variantPathogenicrs398123040GRCh37Chr 2, 26950540: 26950540
8KCNK3NM_002246.2(KCNK3): c.661G> C (p.Val221Leu)single nucleotide variantPathogenicrs398123041GRCh37Chr 2, 26950912: 26950912
9KCNK3NM_002246.2(KCNK3): c.544G> A (p.Glu182Lys)single nucleotide variantPathogenicrs398123042GRCh37Chr 2, 26950795: 26950795
10KCNK3NM_002246.2(KCNK3): c.575A> G (p.Tyr192Cys)single nucleotide variantPathogenicrs398123043GRCh37Chr 2, 26950826: 26950826
11SMAD9NM_001127217.2(SMAD9): c.606C> A (p.Cys202Ter)single nucleotide variantPathogenicrs121918359GRCh37Chr 13, 37446859: 37446859
12BMPR2BMPR2, 1-BP DEL, 2579TdeletionPathogenic
13BMPR2NM_001204.6(BMPR2): c.2695C> T (p.Arg899Ter)single nucleotide variantPathogenicrs137852741GRCh37Chr 2, 203421083: 203421083
14BMPR2NM_001204.6(BMPR2): c.218C> G (p.Ser73Ter)single nucleotide variantPathogenicrs137852742GRCh37Chr 2, 203329673: 203329673
15BMPR2BMPR2, 1-BP DEL, 355AdeletionPathogenic
16BMPR2NM_001204.6(BMPR2): c.354T> G (p.Cys118Trp)single nucleotide variantPathogenicrs137852743GRCh37Chr 2, 203332348: 203332348
17BMPR2NM_001204.6(BMPR2): c.1040G> A (p.Cys347Tyr)single nucleotide variantPathogenicrs137852744GRCh37Chr 2, 203395589: 203395589
18BMPR2NM_001204.6(BMPR2): c.1454A> G (p.Asp485Gly)single nucleotide variantPathogenicrs137852745GRCh37Chr 2, 203417479: 203417479
19BMPR2NM_001204.6(BMPR2): c.1471C> T (p.Arg491Trp)single nucleotide variantPathogenicrs137852746GRCh37Chr 2, 203417496: 203417496
20BMPR2BMPR2, 5-BP DEL, NT1099deletionPathogenic
21BMPR2NM_001204.6(BMPR2): c.507C> A (p.Cys169Ter)single nucleotide variantPathogenicrs137852747GRCh37Chr 2, 203378530: 203378530
22BMPR2NM_001204.6(BMPR2): c.2617C> T (p.Arg873Ter)single nucleotide variantPathogenicrs137852748GRCh37Chr 2, 203421005: 203421005
23BMPR2NM_001204.6(BMPR2): c.1472G> A (p.Arg491Gln)single nucleotide variantPathogenicrs137852749GRCh37Chr 2, 203417497: 203417497
24BMPR2BMPR2, 2-BP DEL, 1-BP INS, NT690indelPathogenic
25BMPR2NM_001204.6(BMPR2): c.367T> C (p.Cys123Arg)single nucleotide variantPathogenicrs137852750GRCh37Chr 2, 203332361: 203332361
26BMPR2NM_001204.6(BMPR2): c.367T> A (p.Cys123Ser)single nucleotide variantPathogenicrs137852750GRCh37Chr 2, 203332361: 203332361
27BMPR2NM_001204.6(BMPR2): c.994C> T (p.Arg332Ter)single nucleotide variantPathogenicrs137852751GRCh37Chr 2, 203395543: 203395543
28BMPR2NM_001204.6(BMPR2): c.2696G> C (p.Arg899Pro)single nucleotide variantPathogenicrs137852752GRCh37Chr 2, 203421084: 203421084
29BMPR2NM_001204.6(BMPR2): c.631C> T (p.Arg211Ter)single nucleotide variantPathogenicrs137852753GRCh37Chr 2, 203383554: 203383554
30BMPR2NM_001204.6(BMPR2): c.44delC (p.Pro15Hisfs)deletionPathogenicrs483352902GRCh37Chr 2, 203242241: 203242241
31BMPR2NM_001204.6: c.77-?_247+?deldeletionPathogenic
32BMPR2BMPR2, EX10DELdeletionPathogenic
33BMPR2BMPR2, EX1-13DELdeletionPathogenic

Expression for genes affiliated with Pulmonary Hypertension

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LifeMap Discovery
Genes differentially expressed in tissues of Pulmonary Hypertension patients vs. healthy controls: 30 (show all 21)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)Kidney-7.220.000
2RALYLRALY RNA binding protein-likeKidney-7.100.000
3HSD11B2hydroxysteroid (11-beta) dehydrogenase 2Kidney-7.080.000
4FAM151Afamily with sequence similarity 151, member AKidney-7.080.000
5DNASE1deoxyribonuclease IKidney-7.000.000
6TMEM52Btransmembrane protein 52BKidney-6.940.000
7KCNJ10potassium inwardly-rectifying channel, subfamily J, member 10Kidney-6.930.000
8IRX2iroquois homeobox 2Kidney-6.900.000
9PVALBparvalbuminKidney-6.660.000
10SLC13A3solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3Kidney-6.600.000
11SLC26A7solute carrier family 26 (anion exchanger), member 7Kidney-6.510.000
12SLC4A1solute carrier family 4 (anion exchanger), member 1 (Diego blood group)Kidney-6.510.000
13TYRP1tyrosinase-related protein 1Kidney-6.460.000
14UPB1ureidopropionase, betaKidney-6.390.000
15CYP4A11cytochrome P450, family 4, subfamily A, polypeptide 11Kidney-6.380.000
16SOSTsclerostinKidney-6.350.000
17HEPACAM2HEPACAM family member 2Kidney-6.330.000
18UMODuromodulinKidney-6.210.000
19SCNN1Bsodium channel, non-voltage-gated 1, beta subunitKidney-6.210.000
20SLC22A6solute carrier family 22 (organic anion transporter), member 6Kidney-6.190.000
21GCgroup-specific component (vitamin D binding protein)Kidney-6.190.000

Search GEO for disease gene expression data for Pulmonary Hypertension.

Pathways for genes affiliated with Pulmonary Hypertension

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

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2SMAD9, BMPR2
210.0BMPR2, BMP2, BMPR1B
310.0ACVRL1, BMP2, BMPR2
49.9EDN1, NPPA, NPPB
5
Show member pathways
ALK1 pathway36
9.9SMAD9, ACVRL1, BMPR2, CAV1
6
Show member pathways
9.9SMAD9, BMPR1B, BMP2, BMPR2
7
Show member pathways
BMP receptor signaling36
BMP signalling and regulation36
BMP Signalling Pathway36
9.9BMPR2, BMP2, BMPR1B, SMAD9
8
Show member pathways
9.8BMPR2, BMP2, BMPR1B, ACVRL1
99.8BMPR2, BMP2, BMPR1B, ACVRL1
10
Show member pathways
9.7BMPR2, BMP2, BMPR1B, ACVRL1, EDN1
11
Show member pathways
9.6BMPR1B, BMP2, BMPR2, NPPA, NPPB
129.6NPPB, NPPA, BMPR2, BMP2, BMPR1B
13
Show member pathways
9.4EDN1, SMAD9, ADM, BMPR1B, BMP2, BMPR2

Compounds for genes affiliated with Pulmonary Hypertension

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

(show top 50)    (show all 154)
idCompoundScoreTop Affiliating Genes
1monocrotaline4310.4PTGIS, CAV1, BMPR2
2urodilatin4310.3NPPB, NPPA, EDN1
3omapatrilat4310.3NPPA, ADM, EDN1
4ouabain43 1211.3NPPB, EDN1, CAV1, SLC6A4
5trandolapril43 1211.3NPPB, NPPA, EDN1
6hanp4310.2EDN1, NPPB, NPPA
7bosentan43 1211.2EDN1, NPPB, ADM
8ptca4310.2FGA, THBD, ADM, NPPB
9carvedilol43 49 28 1213.2NPPA, EDN1, ADM, NPPB
10sildenafil28 43 49 24 1214.2EDN1, NPPA, NPPB, SLC6A4
11phosphoramidon43 1211.2NPPB, NPPA, EDN1, ADM
12spec-t4310.2ADM, NPPA, NPPB, SLC6A4
13nitrate4310.2PTGIS, NPPB, EDN1, ADM
14enalaprilat4310.2NPPB, EDN1, NPPA
15ang ii4310.1ADM, EDN1, NPPB, NPPA
16captopril43 59 49 28 1214.1NPPB, ADM, EDN1, NPPA
17txb24310.1THBD, PTGIS, EDN1, FGA
18l-nmma4310.1EDN1, NPPA, ADM, NPPB
19losartan43 49 28 1213.0NPPB, NPPA, ADM, THBD, EDN1
20thromboxane43 2411.0FGA, PTGIS, THBD, EDN1
21nitroglycerin43 1211.0EDN1, PTGIS, ADM, NPPA, NPPB
22cgmp43 2811.0NPPB, EDN1, NPPA, ADM, NPR3
236-ketoprostaglandin f1alpha4310.0PTGIS, FGA, EDN1, THBD, NPPA
24phenylephrine43 28 24 1213.0EDN1, NPPA, NPPB, ADM
25thiorphan43 28 1211.9EDN1, ADM, NPPA
26isoproterenol43 1210.9EDN1, ADM, NPPA, NPPB, NPR3
27ibmx43 59 2811.9NPR3, NPPA, BMP2, THBD, ADM, EDN1
28epinephrine43 24 1211.9SLC6A4, FGA, NPPB, ADM, EDN1, NPPA
29norepinephrine43 24 1211.8EDN1, ADM, NPPB, FGA, NPPA, SLC6A4
30mibg439.8NPPB, NPPA, ADM
31actinomycin d439.8THBD, EDN1, NPR3, ADM, BMP2, NPPB
32pge1439.8THBD, FGA, ADM, NPPA
33thromboxane a243 2410.8ADM, FGA, PTGIS, EDN1
34cyclosporin a43 28 5911.7THBD, ADM, BMP2, CAV1, EDN1, NPPA
35forskolin43 49 1211.7ADM, BMP2, THBD, NPPA, NPPB, NPR3
36thymidine43 2410.7EDN1, BMP2, ADM, BMPR2, NPPB, FGA
37creatinine439.6BMP2, NPPA, ADM, THBD, EDN1, FGA
38pge2439.6PTGIS, NPPB, FGA, EDN1, NPPA, ADM
39sodium43 2410.6EDN1, SLC6A4, THBD, ADM, CAV1, NPPA
40cysteine439.6BMPR2, ADM, THBD, BMP2, SLC6A4, NPR3
41prostacyclin439.5EDN1, PTGIS, ADM, CAV1, NPPA, NPPB
42oxygen43 2410.5NPPB, CAV1, BMPR2, BMP2, ADM, PTGIS
43adp43 28 2411.5CPS1, ACVRL1, THBD, BMPR1B, BMPR2, FGA
44vegf439.4THBD, ADM, BMP2, CAV1, NPPA, EDN1
45lipid439.3PTGIS, ADM, THBD, BMPR2, NPPB, CAV1
46serine439.3BMPR1B, BMP2, CAV1, FGA, THBD, BMPR2
47tyrosine439.3BMP2, BMPR1B, PTGIS, THBD, ADM, NPPB
48nitric oxide43 24 1211.2NPPA, CAV1, BMP2, ADM, PTGIS, EDN1
49cycloheximide439.2ADM, EDN1, BMP2, CAV1, THBD, NPR3
50arginine439.1NPR3, NPPA, NPPB, CAV1, BMPR2, BMP2

GO Terms for genes affiliated with Pulmonary Hypertension

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

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.7PTGIS, BMPR2, CAV1
2cell surfaceGO:00099869.5THBD, ACVRL1, BMP2, BMPR2, FGA
3extracellular regionGO:00055769.4FGA, NPPB, NPPA, BMP2, ADM, EDN1
4integral component of plasma membraneGO:00058879.3THBD, KCNK3, ACVRL1, BMPR1B, BMPR2, CAV1
5extracellular spaceGO:00056159.0FGA, EDN1, THBD, PTGIS, ADM, BMP2

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

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of vasoconstrictionGO:004590610.6ADM, BMPR2
2venous blood vessel developmentGO:006084110.6ACVRL1, BMPR2
3lymphatic endothelial cell differentiationGO:006083610.5BMPR2, ACVRL1
4negative regulation of DNA biosynthetic processGO:0200027910.5ACVRL1, BMPR2
5positive regulation of odontogenesisGO:004248210.5BMP2, EDN1
6artery developmentGO:006084010.5BMPR2, ACVRL1
7retina vasculature development in camera-type eyeGO:006129810.5BMPR2, ACVRL1
8negative regulation of systemic arterial blood pressureGO:000308510.5BMPR2, NPPA
9body fluid secretionGO:000758910.5NPPB, EDN1
10positive regulation of heart rateGO:001046010.5ADM, EDN1
11lymphangiogenesisGO:000194610.5ACVRL1, BMPR2
12negative regulation of nitric oxide biosynthetic processGO:004501910.5PTGIS, CAV1
13vasoconstrictionGO:004231010.5EDN1, CAV1, SLC6A4
14cGMP biosynthetic processGO:000618210.4NPPB, NPPA
15positive regulation of urine volumeGO:003581010.4NPR3, NPPB, EDN1
16negative regulation of blood coagulationGO:003019510.4EDN1, THBD
17positive regulation of bone mineralizationGO:003050110.4BMPR2, BMP2, BMPR1B
18receptor guanylyl cyclase signaling pathwayGO:000716810.4NPPA, NPPB
19positive regulation of osteoblast differentiationGO:004566910.4BMPR1B, BMP2, BMPR2
20positive regulation of renal sodium excretionGO:003581510.4EDN1, NPPB
21activin receptor signaling pathwayGO:003292410.4ACVRL1, BMPR2
22positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.4BMPR2, BMP2, ACVRL1
23regulation of blood vessel sizeGO:005088010.3NPPA, NPPB
24positive regulation of endothelial cell proliferationGO:000193810.3BMPR2, BMP2, ACVRL1
25nitric oxide metabolic processGO:004620910.3CAV1, CPS1
26prostaglandin biosynthetic processGO:000151610.3EDN1, PTGIS
27response to lipopolysaccharideGO:003249610.3EDN1, THBD, CPS1, ADM
28female pregnancyGO:000756510.3THBD, ADM, NPPA
29cellular response to BMP stimulusGO:007177310.2ACVRL1, BMP2
30membrane depolarizationGO:005189910.2EDN1, CAV1
31skeletal system developmentGO:000150110.2NPR3, BMP2, BMPR1B
32negative regulation of cell growthGO:003030810.2ACVRL1, BMPR2, NPPA, NPPB
33regulation of blood pressureGO:000821710.2ACVRL1, NPPA, NPPB, NPR3
34negative regulation of endothelial cell proliferationGO:000193710.1CAV1, ACVRL1
35BMP signaling pathwayGO:003050910.1SMAD9, ACVRL1, BMPR1B, BMP2, BMPR2
36protein phosphorylationGO:000646810.1SMAD9, ACVRL1, BMPR1B, BMP2
37positive regulation of BMP signaling pathwayGO:003051310.1BMPR2, ACVRL1
38heart developmentGO:000750710.0BMP2, ADM, EDN1
39response to amino acidGO:00432009.9CPS1, EDN1
40response to hypoxiaGO:00016669.8SLC6A4, NPPA, CAV1, BMP2, ADM, SMAD9

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.2BMPR2, ACVRL1
2transforming growth factor beta receptor activity, type IGO:000502510.1BMPR1B, ACVRL1
3transmembrane receptor protein serine/threonine kinase activityGO:000467510.0BMPR1B, ACVRL1
4SMAD bindingGO:004633210.0ACVRL1, BMPR1B, BMP2
5hormone activityGO:00051799.9EDN1, ADM, NPPA, NPPB
6nitric-oxide synthase bindingGO:00509989.9SLC6A4, CAV1
7receptor bindingGO:00051029.6FGA, NPPB, NPPA, CAV1, BMP2, ADM
8protein bindingGO:00055158.5EDN1, THBD, SMAD9, PTGIS, CPS1, ADM

Products for genes affiliated with Pulmonary Hypertension

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Sources for Pulmonary Hypertension

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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