MCID: PLM040
MIFTS: 38

Pulmonary Valve Disease

Categories: Cardiovascular diseases

Aliases & Classifications for Pulmonary Valve Disease

MalaCards integrated aliases for Pulmonary Valve Disease:

Name: Pulmonary Valve Disease 12 14
Pulmonary Valve Disorder 12 69
Abnormality of the Pulmonary Valve 28

Classifications:



External Ids:

Disease Ontology 12 DOID:5749
ICD9CM 34 424.3
NCIt 46 C78579
SNOMED-CT 64 195001000 76267008
ICD10 32 I37 I39.3
UMLS 69 C0034087

Summaries for Pulmonary Valve Disease

MalaCards based summary : Pulmonary Valve Disease, also known as pulmonary valve disorder, is related to pulmonary valve insufficiency and pulmonary valve stenosis. An important gene associated with Pulmonary Valve Disease is GATA6 (GATA Binding Protein 6), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Kit receptor signaling pathway. Affiliated tissues include heart, and related phenotypes are cardiovascular system and embryo

Wikipedia : 72 The pulmonary valve (sometimes referred to as the pulmonic valve) is the semilunar valve of the heart... more...

Related Diseases for Pulmonary Valve Disease

Diseases in the Pulmonary Valve Disease family:

Pulmonary Valve Insufficiency

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 pulmonary valve insufficiency 31.3 FLRT3 NKX2-6 SLC6A11
2 pulmonary valve stenosis 27.7 CRELD1 GATA4 NKX2-6 PTPN11 SOS1 SPRED1
3 rheumatic pulmonary valve disease 12.2
4 atrial septal defect 9 10.9
5 villonodular synovitis 10.2 PTPN11 SOS1
6 autosomal dominant café au lait spots 10.1 PTPN11 SPRED1
7 costello syndrome 10.1 PTPN11 SOS1
8 legius syndrome 10.1 PTPN11 SPRED1
9 pancreatic agenesis 9.9 GATA4 GATA6
10 leopard syndrome 9.9 PTPN11 SPRED1
11 cardiofaciocutaneous syndrome 1 9.9 PTPN11 SOS1 SPRED1
12 tricuspid atresia 9.9 CRELD1 NKX2-6
13 total anomalous pulmonary venous return 1 9.9 CRELD1 NKX2-6
14 noonan syndrome 1 9.9 PTPN11 SOS1 SPRED1
15 familial atrial fibrillation 9.8 GATA4 GATA6 NKX2-6
16 juvenile myelomonocytic leukemia 9.8 PTPN11 SOS1 SPRED1
17 tricuspid valve disease 9.8 CRELD1 GATA6 NKX2-6
18 patent ductus arteriosus 1 9.8 CRELD1 GATA6 NKX2-6
19 complete atrioventricular canal-tetralogy of fallot syndrome 9.7 CRELD1 GATA4
20 complete atrioventricular canal-left heart obstruction syndrome 9.7 CRELD1 GATA4
21 patent foramen ovale 9.7 GATA4 GATA6 TBX5
22 tricuspid valve stenosis 9.7 CRELD1 NKX2-6 SLC6A11
23 atrioventricular block 9.7 GATA4 TBX5
24 carcinoid syndrome 9.6
25 partial atrioventricular canal 9.6 CRELD1 GATA4 GATA6
26 complete atrioventricular canal-ventricle hypoplasia syndrome 9.6 CRELD1 GATA4 GATA6
27 ventricular septal defect 9.5 GATA4 GATA6 NKX2-6 TBX5
28 ebstein anomaly 9.5 CRELD1 GATA4 NKX2-6
29 aortic valve disease 1 9.5 CRELD1 NKX2-6
30 transposition of the great arteries 9.3 CRELD1 GATA4 GATA6 NKX2-6
31 conotruncal heart malformations 9.3 CRELD1 GATA4 GATA6 NKX2-6
32 atrial heart septal defect 9.2 CRELD1 GATA4 NKX2-6 TBX5
33 heart septal defect 9.0 CRELD1 GATA4 GATA6 NKX2-6 TBX5
34 atrioventricular septal defect 9.0 CRELD1 GATA4 GATA6 NKX2-6 TBX5
35 tetralogy of fallot 8.7 CRELD1 GATA4 GATA6 NKX2-6 PTPN11 TBX5
36 heart disease 8.6 CRELD1 GATA4 NKX2-6 PTPN11 SOS1 TBX5

Comorbidity relations with Pulmonary Valve Disease via Phenotypic Disease Network (PDN): (show all 15)


Acute Cystitis Aortic Valve Disease 1
Chronic Myocardial Ischemia Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Ischemic Heart Disease Mitral Valve Disease
Pulmonary Hypertension, Primary, 1 Respiratory Failure
Sinoatrial Node Disease Transient Cerebral Ischemia
Tricuspid Valve Disease

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



Diseases related to Pulmonary Valve Disease

Symptoms & Phenotypes for Pulmonary Valve Disease

MGI Mouse Phenotypes related to Pulmonary Valve Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 SOS1 GATA6 NKX2-6 CRELD1 FLRT3 PTPN11
2 embryo MP:0005380 10.01 SOS1 GATA6 NKX2-6 CRELD1 FLRT3 PTPN11
3 cellular MP:0005384 9.98 GATA4 SOS1 GATA6 NKX2-6 CRELD1 FLRT3
4 growth/size/body region MP:0005378 9.97 GATA4 SOS1 GATA6 SPRED1 NKX2-6 FLRT3
5 mortality/aging MP:0010768 9.91 SLC6A11 SOS1 GATA6 NKX2-6 CRELD1 FLRT3
6 limbs/digits/tail MP:0005371 9.72 GATA4 GATA6 SPRED1 PTPN11 TBX5
7 muscle MP:0005369 9.55 PTPN11 GATA4 SOS1 GATA6 TBX5
8 nervous system MP:0003631 9.5 SLC6A11 GATA4 SOS1 SPRED1 CRELD1 FLRT3
9 respiratory system MP:0005388 9.02 GATA4 GATA6 SPRED1 NKX2-6 PTPN11

Drugs & Therapeutics for Pulmonary Valve Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes Following Pulmonary Valve Replacement in Adults Completed NCT00276237
2 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
3 PULSTA® Transcatheter Pulmonary Valve Korean Multicenter Study Recruiting NCT03110861
4 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT02555319
5 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Pulmonary Valve Disease

Genetic Tests for Pulmonary Valve Disease

Genetic tests related to Pulmonary Valve Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Pulmonary Valve 28

Anatomical Context for Pulmonary Valve Disease

MalaCards organs/tissues related to Pulmonary Valve Disease:

38
Heart

Publications for Pulmonary Valve Disease

Articles related to Pulmonary Valve Disease:

# Title Authors Year
1
Abnormal Haemodynamic Flow Patterns in Bicuspid Pulmonary Valve Disease. ( 28620320 )
2017
2
Importance of pulmonary valve disease during implantation of a biventricular assist device. ( 24268185 )
2013
3
Tricuspid and pulmonary valve disease evaluation and management. ( 21070730 )
2010
4
Pulmonary valve replacement: extending the indications to the whole spectrum of pulmonary valve disease. ( 19804205 )
2007
5
Percutaneous stent-mounted valve for treatment of aortic or pulmonary valve disease. ( 15343576 )
2004
6
Carcinoid syndrome: an unusual cause of tricuspid and pulmonary valve disease. ( 12876616 )
2003
7
Rheumatic pulmonary valve disease. ( 11273310 )
1998
8
Echocardiographic evaluation of isolated pulmonary valve disease in adolescents and adults. ( 10146329 )
1993
9
Rheumatic pulmonary valve disease. ( 5380838 )
1969

Variations for Pulmonary Valve Disease

Expression for Pulmonary Valve Disease

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

Pathways for Pulmonary Valve Disease

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 FLRT3 PTPN11 SOS1 SPRED1
2
Show member pathways
11.7 PTPN11 SOS1 SPRED1
3
Show member pathways
11.56 PTPN11 SOS1 SPRED1
4
Show member pathways
11.54 FLRT3 PTPN11 SOS1 SPRED1
5 11.3 PTPN11 SOS1
6 11.28 GATA4 TBX5
7 11.26 PTPN11 SOS1
8 11.22 GATA4 GATA6
9 11.2 PTPN11 SOS1
10 11.15 PTPN11 SOS1
11 11.13 PTPN11 SOS1
12 11.06 PTPN11 SOS1
13 10.98 PTPN11 SOS1
14
Show member pathways
10.91 PTPN11 SOS1
15 10.85 PTPN11 SOS1
16 10.77 PTPN11 SOS1
17 10.59 GATA4 GATA6 PTPN11 TBX5

GO Terms for Pulmonary Valve Disease

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 axon guidance GO:0007411 9.65 FLRT3 PTPN11 SOS1
2 heart development GO:0007507 9.56 FLRT3 NKX2-6 PTPN11 TBX5
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.54 FLRT3 PTPN11 SPRED1
4 positive regulation of cardiac muscle cell proliferation GO:0060045 9.52 GATA6 TBX5
5 positive regulation of BMP signaling pathway GO:0030513 9.51 GATA4 GATA6
6 ventricular septum development GO:0003281 9.49 GATA4 TBX5
7 neurotrophin TRK receptor signaling pathway GO:0048011 9.46 PTPN11 SOS1
8 atrial septum morphogenesis GO:0060413 9.43 GATA4 TBX5
9 pericardium development GO:0060039 9.4 NKX2-6 TBX5
10 cardiac muscle cell differentiation GO:0055007 9.33 GATA4 GATA6 TBX5
11 intestinal epithelial cell differentiation GO:0060575 9.32 GATA4 GATA6
12 endocardial cushion development GO:0003197 9.13 CRELD1 GATA4 TBX5
13 positive regulation of cardioblast differentiation GO:0051891 8.8 GATA4 GATA6 TBX5

Molecular functions related to Pulmonary Valve Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.26 GATA4 GATA6 NKX2-6 TBX5
2 RNA polymerase II transcription factor binding GO:0001085 9.16 GATA4 GATA6
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.8 GATA4 GATA6 TBX5

Sources for Pulmonary Valve Disease

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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