MCID: PLM041
MIFTS: 48

Pulmonary Valve Stenosis

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Pulmonary Valve Stenosis

MalaCards integrated aliases for Pulmonary Valve Stenosis:

Name: Pulmonary Valve Stenosis 12 72 49 28 51 41 14 69
Valvular Pulmonary Stenosis 49 55
Heart Valve Pulmonary Stenosis 49
Valvate Pulmonary Stenosis 49
Valvar Pulmonary Stenosis 49
Pulmonary Stenosis 69

Classifications:



External Ids:

Disease Ontology 12 DOID:6420
MeSH 41 D011666
SNOMED-CT 64 56786000
Orphanet 55 ORPHA99054
MESH via Orphanet 42 D011666
UMLS via Orphanet 70 C0034089
ICD10 via Orphanet 33 Q22.1
ICD10 32 I37.0 I37.2

Summaries for Pulmonary Valve Stenosis

MalaCards based summary : Pulmonary Valve Stenosis, also known as valvular pulmonary stenosis, is related to pulmonic stenosis and patent ductus arteriosus 1. An important gene associated with Pulmonary Valve Stenosis is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Signaling by FGFR2. The drugs Minoxidil and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone, and related phenotypes are cardiovascular system and embryo

Wikipedia : 72 Pulmonary valve stenosis (PVS) is a heart valve disorder in which outflow of blood from the right... more...

Related Diseases for Pulmonary Valve Stenosis

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 pulmonic stenosis 32.7 JAG1 PTPN11
2 patent ductus arteriosus 1 29.4 CRELD1 NKX2-6
3 ventricular septal defect 29.3 GATA4 JAG1 NKX2-6 TBX5
4 tricuspid atresia 29.2 CRELD1 NKX2-6
5 atrial heart septal defect 29.1 CRELD1 GATA4 NKX2-6 TBX5
6 patent foramen ovale 29.0 GATA4 TBX5
7 tetralogy of fallot 27.9 CRELD1 GATA4 JAG1 NKX2-6 PTPN11 TBX5
8 heart disease 26.9 CRELD1 GATA4 JAG1 NKX2-6 PTPN11 SOS1
9 kleefstra syndrome 11.1
10 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2 JAG1 PTPN11
11 villonodular synovitis 10.2 PTPN11 SOS1
12 autosomal dominant café au lait spots 10.2 PTPN11 SPRED1
13 costello syndrome 10.1 PTPN11 SOS1
14 legius syndrome 10.1 PTPN11 SPRED1
15 cyanosis, transient neonatal 10.0
16 complete atrioventricular canal-tetralogy of fallot syndrome 10.0 CRELD1 GATA4
17 complete atrioventricular canal-left heart obstruction syndrome 10.0 CRELD1 GATA4
18 leopard syndrome 10.0 PTPN11 SPRED1
19 partial atrioventricular canal 10.0 CRELD1 GATA4
20 complete atrioventricular canal-ventricle hypoplasia syndrome 10.0 CRELD1 GATA4
21 aging 10.0
22 endocarditis 10.0
23 hypoplastic left heart syndrome 1 9.9
24 aortic valve disease 2 9.9
25 congestive heart failure 9.9
26 hypoplastic left heart syndrome 9.9
27 hypertrophic cardiomyopathy 9.9
28 atrioventricular block 9.9 GATA4 TBX5
29 cardiofaciocutaneous syndrome 1 9.8 PTPN11 SOS1 SPRED1
30 noonan syndrome 1 9.8 PTPN11 SOS1 SPRED1
31 juvenile myelomonocytic leukemia 9.8 PTPN11 SOS1 SPRED1
32 total anomalous pulmonary venous return 1 9.8 CRELD1 NKX2-6
33 tricuspid valve disease 9.7 CRELD1 NKX2-6
34 prune belly syndrome 9.7
35 pulmonary hypertension, primary, 1 9.7
36 williams-beuren syndrome 9.7
37 ataxia-telangiectasia 9.7
38 pulmonary atresia with intact ventricular septum 9.7
39 hemophilia a 9.7
40 ataxia and polyneuropathy, adult-onset 9.7
41 hydrops, lactic acidosis, and sideroblastic anemia 9.7
42 infective endocarditis 9.7
43 sarcoma 9.7
44 pulmonary edema 9.7
45 purpura 9.7
46 cerebritis 9.7
47 tricuspid valve insufficiency 9.7
48 malignant hyperthermia 9.7
49 pulmonary embolism 9.7
50 muscular dystrophy 9.7

Graphical network of the top 20 diseases related to Pulmonary Valve Stenosis:



Diseases related to Pulmonary Valve Stenosis

Symptoms & Phenotypes for Pulmonary Valve Stenosis

MGI Mouse Phenotypes related to Pulmonary Valve Stenosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 JAG1 TBX5 NKX2-6 CRELD1 PTPN11 GATA4
2 embryo MP:0005380 9.95 JAG1 TBX5 NKX2-6 CRELD1 PTPN11 GATA4
3 cellular MP:0005384 9.93 SOS1 JAG1 NKX2-6 CRELD1 PTPN11 GATA4
4 growth/size/body region MP:0005378 9.91 JAG1 SPRED1 TBX5 NKX2-6 PTPN11 GATA4
5 craniofacial MP:0005382 9.83 JAG1 SPRED1 CRELD1 PTPN11 SOS1
6 mortality/aging MP:0010768 9.8 SOS1 JAG1 NKX2-6 CRELD1 PTPN11 GATA4
7 limbs/digits/tail MP:0005371 9.62 SPRED1 PTPN11 GATA4 TBX5
8 muscle MP:0005369 9.55 SOS1 JAG1 TBX5 PTPN11 GATA4
9 nervous system MP:0003631 9.43 SOS1 SPRED1 JAG1 CRELD1 PTPN11 GATA4
10 normal MP:0002873 9.02 JAG1 NKX2-6 PTPN11 GATA4 TBX5

Drugs & Therapeutics for Pulmonary Valve Stenosis

Drugs for Pulmonary Valve Stenosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Everolimus Approved Phase 2 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 6436030 5284616
5 Vasodilator Agents Phase 2
6 Antihypertensive Agents Phase 2
7 Anti-Bacterial Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Antifungal Agents Phase 2
10 Immunosuppressive Agents Phase 2
11 Antibiotics, Antitubercular Phase 2
12
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
13 Chelating Agents
14 Hormones
15 Anticoagulants
16 Bone Density Conservation Agents
17 Calcium, Dietary
18 Citrate Nutraceutical

Interventional clinical trials:

(show all 25)

# Name Status NCT ID Phase Drugs
1 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome Completed NCT00876200 Phase 2 Minoxidil;Placebo
2 Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent Placement Recruiting NCT02365415 Phase 2 Sirolimus
3 Pulmonary Artery Repair With Covered Stents Unknown status NCT01824160
4 Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right Heart Unknown status NCT01444222
5 Pulmonary Arteriopathy-Diagnostics and Therapy Completed NCT00266175
6 Follow Up on Freestyle Valves in Children Completed NCT00385112
7 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
8 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
9 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
10 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
11 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
12 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Recruiting NCT02186691
13 PULSTA® Transcatheter Pulmonary Valve Korean Multicenter Study Recruiting NCT03110861
14 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Recruiting NCT02987387
15 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
16 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777
17 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
18 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677
19 Pulmonic Valve REplacement Multi-discIpline EMEA Registry Active, not recruiting NCT01356108
20 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT02555319
21 COMPASSION - COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THV Active, not recruiting NCT00676689
22 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
23 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Not yet recruiting NCT02486731
24 Mild Valvar Pulmonary Stenosis Terminated NCT00277927
25 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Pulmonary Valve Stenosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: pulmonary valve stenosis

Genetic Tests for Pulmonary Valve Stenosis

Genetic tests related to Pulmonary Valve Stenosis:

# Genetic test Affiliating Genes
1 Pulmonary Valve Stenosis (rare) 28

Anatomical Context for Pulmonary Valve Stenosis

MalaCards organs/tissues related to Pulmonary Valve Stenosis:

38
Heart, Lung, Bone

Publications for Pulmonary Valve Stenosis

Articles related to Pulmonary Valve Stenosis:

(show top 50) (show all 177)
# Title Authors Year
1
Fetal Pulmonary Valve Stenosis or Atresia with Intact Ventricular Septum: Predictors of Need for Neonatal Intervention. ( 29417607 )
2018
2
Percutaneous balloon pulmonary valvuloplasty (PBPV) of extreme pulmonary valve stenosis by the use of Accura balloon. ( 28978603 )
2017
3
Anatomic, histopathologic, and echocardiographic features in a dog with an atypical pulmonary valve stenosis with a fibrous band of tissue and a patent ductus arteriosus. ( 28697788 )
2017
4
Biventricular impact of mild to moderate pulmonary valve stenosis in fetal life. ( 28295792 )
2017
5
Long-term results of percutaneous balloon valvuloplasty in neonatal critical pulmonary valve stenosis: a 20-year, single-centre experience. ( 28619122 )
2017
6
Regional right ventricular remodeling and function in children with idiopathic pulmonary arterial hypertension vs those with pulmonary valve stenosis: Insights into mechanics of right ventricular dysfunction. ( 28370259 )
2017
7
Percutaneous balloon valvuloplasty with Inoue balloon catheter technique for pulmonary valve stenosis in adolescents and adults. ( 28460765 )
2017
8
Dysplastic pulmonary valve stenosis associated with unilateral absent first metacarpal: A rare association. ( 28894588 )
2017
9
Immediate Therapeutic Outcomes and Medium-term Follow-up of Percutaneous Balloon Pulmonary Valvuloplasty in Infants with Pulmonary Valve Stenosis: A Single-center Retrospective Study. ( 29176137 )
2017
10
Results of pulmonary balloon valvuloplasty persist and improve at late follow-up in isolated pulmonary valve stenosis. ( 28651667 )
2017
11
Unilateral absence of an external jugular vein in two English bulldogs with pulmonary valve stenosis. ( 28274588 )
2017
12
Percutaneous balloon valvuloplasty in carcinoid pulmonary valve stenosis. ( 27976548 )
2016
13
Dual-Source Computed Tomography Evaluation of Children with Congenital Pulmonary Valve Stenosis. ( 27703660 )
2016
14
Case 4/2016: 32-Year-Old Female, with Critical Pulmonary Valve Stenosis. Operated at 4 Months of Age, in Normal Healing Evolution. ( 27409129 )
2016
15
EP08.08: Critical pulmonary valve stenosis in dichorionic and diamniotic twins: prenatal diagnosis, pregnancy outcomes and postnatal development. ( 27646419 )
2016
16
Long-Term Outcomes of Balloon Valvuloplasty for Isolated Pulmonary Valve Stenosis. ( 27826708 )
2016
17
Prosthetic Pulmonary Valve Stenosis: A Different Way to Solve the Problem. ( 26354643 )
2015
18
Henoch-SchAPnlein purpura secondary to infective endocarditis in a patient with pulmonary valve stenosis and a ventricular septal defect. ( 25995673 )
2015
19
Interventional Treatment of Pulmonary Valve Stenosis: A Single Center Experience. ( 27275259 )
2015
20
Balloon valvuloplasty in dysplastic pulmonary valve stenosis: immediate and intermediate outcomes. ( 25604363 )
2015
21
Right juxtaposition and a tunnel between the atrial appendages in a patient with atrial septal defect and pulmonary valve stenosis. ( 25548354 )
2015
22
Restrictive right ventricular performance assessed by cardiac magnetic resonance after balloon valvuloplasty of critical pulmonary valve stenosis. ( 26095337 )
2015
23
Percutaneous Pulmonary Balloon Valvuloplasty Provides Good Long-Term Outcomes in Adults With Pulmonary Valve Stenosis. ( 26301562 )
2015
24
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. ( 24498650 )
2014
25
Functional and haemodynamic assessment of mild-to-moderate pulmonary valve stenosis at rest and during exercise. ( 24780907 )
2014
26
Immediate- and medium-term effects of simultaneous percutaneous corrections of secundum type atrial septal defect combined with pulmonary valve stenosis in local anesthesia and without transesophageal echocardiography guidance. ( 24842233 )
2014
27
Rebuttal: Percutaneous balloon dilation of severe pulmonary valve stenosis in patients with cyanosis and congestive heart failure. ( 24554586 )
2014
28
Long-term results of percutaneous balloon valvuloplasty in pulmonary valve stenosis in the pediatric population. ( 24774730 )
2014
29
Staged pulmonary valve balloon dilatation in patients with severe pulmonary valve stenosis and heart failure. ( 24677571 )
2014
30
Alpha blocker and angiotensin-converting enzyme inhibitor in the management of severe pulmonary valve stenosis: from bench to bedside. ( 25543957 )
2014
31
Stenting of the right ventricular outflow tract in 2 dogs for palliation of dysplastic pulmonary valve stenosis and right-to-left intracardiac shunting defects. ( 25087648 )
2014
32
Utility of live/real time three-dimensional transesophageal echocardiography in the assessment and percutaneous intervention of bioprosthetic pulmonary valve stenosis. ( 24646027 )
2014
33
Comparison of medium-term results of transcatheter correction versus surgical treatment for secundum type atrial septal defect combined with pulmonary valve stenosis. ( 24898601 )
2014
34
Percutaneous transluminal pulmonary valvuloplasty in a child with tricuspid atresia, ventricular septal defect, and severe pulmonary valve stenosis: Usefulness of the Femoral Artery Approach. ( 24030841 )
2013
35
Pulmonary valve regurgitation following balloon valvuloplasty for pulmonary valve stenosis: Single center experience. ( 24688230 )
2013
36
A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. ( 24513334 )
2013
37
Transjugular Balloon Pulmonary Valvuloplasty Through a Bidirectional Glenn Shunt for Dysplastic Pulmonary Valve Stenosis in an 8.7-Year-Old Boy with Inaccessible Femoral Veins. ( 24103403 )
2013
38
Assessment of the vortex flow in the post-stenotic dilatation above the pulmonary valve stenosis in an infant using echocardiography vector flow mapping. ( 24135837 )
2013
39
The Comparison between the Echocardiographic Data to the Cardiac Catheterization Data on the Diagnosis, Treatment, and Follow-Up in Patients Diagnosed as Pulmonary Valve Stenosis. ( 23560138 )
2013
40
Percutaneous balloon dilation of severe pulmonary valve stenosis in patients with cyanosis and congestive heart failure. ( 24327397 )
2013
41
Single left coronary ostium and an anomalous prepulmonic right coronary artery in 2 dogs with congenital pulmonary valve stenosis. ( 23660401 )
2013
42
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis. ( 23270675 )
2013
43
Immediate, short, intermediate and long-term results of balloon valvuloplasty in congenital pulmonary valve stenosis. ( 23737317 )
2013
44
Long-term Results of Balloon Pulmonary Valvuloplasty in Children with Congenital Pulmonary Valve Stenosis. ( 23550107 )
2013
45
Delayed Success of Balloon Dilation for Coexisting Pulmonary Valve Stenosis and Sinotubular Narrowing. ( 23803015 )
2013
46
Angiotensin converting enzyme inhibitor as an additive treatment after successful balloon dilation of a critical pulmonary valve stenosis. ( 23960668 )
2012
47
Percutaneous balloon valvuloplasty inpatients with pulmonary valve stenosis: a single center experiment. ( 22768462 )
2012
48
Critical pulmonary valve stenosis and pulmonary atresia/intact ventricular septum: to lump or split? Examining procedural success and risk for reintervention. ( 22344996 )
2012
49
Exercise capacity and ventricular function in patients treated for isolated pulmonary valve stenosis or tetralogy of Fallot. ( 22871643 )
2012
50
Pulmonary valve stenosis causing massive pulmonary artery aneurysm: a conservative approach. ( 20442668 )
2012

Variations for Pulmonary Valve Stenosis

Expression for Pulmonary Valve Stenosis

Search GEO for disease gene expression data for Pulmonary Valve Stenosis.

Pathways for Pulmonary Valve Stenosis

Pathways related to Pulmonary Valve Stenosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 PTPN11 SOS1 SPRED1
2
Show member pathways
11.72 PTPN11 SOS1 SPRED1
3
Show member pathways
11.54 PTPN11 SOS1 SPRED1
4
Show member pathways
11.4 PTPN11 SOS1
5
Show member pathways
11.35 PTPN11 SOS1
6 11.29 PTPN11 SOS1
7 11.27 GATA4 TBX5
8
Show member pathways
11.26 PTPN11 SOS1 SPRED1
9 11.23 PTPN11 SOS1
10 11.18 PTPN11 SOS1
11 11.14 PTPN11 SOS1
12 11.11 PTPN11 SOS1
13 11.04 PTPN11 SOS1
14 10.95 PTPN11 SOS1
15
Show member pathways
10.88 PTPN11 SOS1
16 10.82 PTPN11 SOS1
17 10.72 PTPN11 SOS1
18 10.46 GATA4 PTPN11 TBX5

GO Terms for Pulmonary Valve Stenosis

Biological processes related to Pulmonary Valve Stenosis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.63 NKX2-6 PTPN11 TBX5
2 epidermal growth factor receptor signaling pathway GO:0007173 9.49 PTPN11 SOS1
3 inner ear development GO:0048839 9.48 JAG1 PTPN11
4 ventricular septum development GO:0003281 9.43 GATA4 TBX5
5 cardiac muscle cell differentiation GO:0055007 9.4 GATA4 TBX5
6 neurotrophin TRK receptor signaling pathway GO:0048011 9.37 PTPN11 SOS1
7 atrial septum morphogenesis GO:0060413 9.32 GATA4 TBX5
8 cardiac right ventricle morphogenesis GO:0003215 9.26 GATA4 JAG1
9 pericardium development GO:0060039 9.16 NKX2-6 TBX5
10 positive regulation of cardioblast differentiation GO:0051891 8.96 GATA4 TBX5
11 endocardial cushion development GO:0003197 8.8 CRELD1 GATA4 TBX5

Sources for Pulmonary Valve Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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