MCID: PLM040
MIFTS: 36

Pulmonary Valve Disease

Categories: Cardiovascular diseases

Aliases & Classifications for Pulmonary Valve Disease

MalaCards integrated aliases for Pulmonary Valve Disease:

Name: Pulmonary Valve Disease 12 15
Pulmonary Valve Disorder 12 73

Classifications:



External Ids:

Disease Ontology 12 DOID:5749
ICD9CM 35 424.3
NCIt 50 C78579
SNOMED-CT 68 195001000 76267008
ICD10 33 I37 I39.3
UMLS 73 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. The drugs Dopamine and Cabergoline have been mentioned in the context of this disorder. Related phenotypes are cardiovascular system and embryo

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 40)
# Related Disease Score Top Affiliating Genes
1 pulmonary valve insufficiency 31.3 FLRT3 NKX2-6 SLC6A11
2 pulmonary valve stenosis 28.6 GATA4 NKX2-6 PTPN11 SOS1 TBX5
3 rheumatic pulmonary valve disease 12.1
4 atrial septal defect 9 10.9
5 noonan syndrome 3 10.5 PTPN11 SOS1
6 villonodular synovitis 10.4 PTPN11 SOS1
7 autosomal dominant café au lait spots 10.3 PTPN11 SPRED1
8 pulmonic stenosis 10.3 PTPN11 SOS1
9 costello syndrome 10.2 PTPN11 SOS1
10 conotruncal heart malformations 10.2 GATA6 NKX2-6
11 legius syndrome 10.2 PTPN11 SPRED1
12 pancreatic agenesis 9.9 GATA4 GATA6
13 tricuspid atresia 9.9 CRELD1 NKX2-6
14 total anomalous pulmonary venous return 1 9.9 CRELD1 NKX2-6
15 cardiofaciocutaneous syndrome 1 9.9 PTPN11 SOS1 SPRED1
16 tricuspid valve insufficiency 9.8 CRELD1 PTPN11
17 noonan syndrome 1 9.8 PTPN11 SOS1 SPRED1
18 familial atrial fibrillation 9.8 GATA4 GATA6 NKX2-6
19 juvenile myelomonocytic leukemia 9.8 PTPN11 SOS1 SPRED1
20 patent foramen ovale 9.8 GATA4 TBX5
21 aortic valve disease 1 9.8 NKX2-6 SOS1
22 tricuspid valve disease 9.7 CRELD1 GATA6 NKX2-6
23 complete atrioventricular canal-tetralogy of fallot syndrome 9.6 CRELD1 GATA4
24 complete atrioventricular canal-left heart obstruction syndrome 9.6 CRELD1 GATA4
25 carcinoid syndrome 9.6
26 mitral valve insufficiency 9.6 CRELD1 TBX5
27 tricuspid valve stenosis 9.5 CRELD1 NKX2-6 SLC6A11
28 atrioventricular block 9.5 GATA4 TBX5
29 partial atrioventricular canal 9.3 CRELD1 GATA4 GATA6
30 complete atrioventricular canal-ventricle hypoplasia syndrome 9.3 CRELD1 GATA4 GATA6
31 ventricular septal defect 9.3 GATA4 GATA6 NKX2-6 TBX5
32 atrial septal defect 4 9.3 GATA4 GATA6 PTPN11 TBX5
33 ebstein anomaly 9.3 CRELD1 GATA4 NKX2-6
34 double outlet right ventricle 8.9 CRELD1 GATA4 GATA6 NKX2-6
35 patent ductus arteriosus 1 8.6 CRELD1 GATA4 GATA6 NKX2-6 PTPN11
36 heart septal defect 8.4 CRELD1 GATA4 GATA6 NKX2-6 TBX5
37 atrioventricular septal defect 8.4 CRELD1 GATA4 GATA6 NKX2-6 TBX5
38 atrial heart septal defect 8.4 CRELD1 GATA4 GATA6 NKX2-6 TBX5
39 tetralogy of fallot 7.9 CRELD1 GATA4 GATA6 NKX2-6 PTPN11 TBX5
40 heart disease 7.5 CRELD1 GATA4 GATA6 NKX2-6 PTPN11 SOS1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 TBX5 NKX2-6 CRELD1 FLRT3 PTPN11 GATA4
2 embryo MP:0005380 10.01 TBX5 NKX2-6 CRELD1 FLRT3 PTPN11 GATA4
3 cellular MP:0005384 9.98 GATA6 NKX2-6 CRELD1 FLRT3 PTPN11 GATA4
4 growth/size/body region MP:0005378 9.97 TBX5 SPRED1 NKX2-6 FLRT3 PTPN11 GATA4
5 mortality/aging MP:0010768 9.91 TBX5 NKX2-6 CRELD1 FLRT3 PTPN11 GATA4
6 limbs/digits/tail MP:0005371 9.72 TBX5 GATA6 SPRED1 PTPN11 GATA4
7 muscle MP:0005369 9.55 TBX5 GATA6 PTPN11 GATA4 SOS1
8 nervous system MP:0003631 9.5 SPRED1 CRELD1 FLRT3 PTPN11 SLC6A11 GATA4
9 respiratory system MP:0005388 9.02 GATA6 SPRED1 NKX2-6 PTPN11 GATA4

Drugs & Therapeutics for Pulmonary Valve Disease

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Cabergoline Approved 81409-90-7 54746
3
Levodopa Approved 59-92-7 6047
4 Dopamine agonists
5 Neurotransmitter Agents
6 Dopamine Agents
7 Peripheral Nervous System Agents
8 Protective Agents
9 Autonomic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes Following Pulmonary Valve Replacement in Adults Completed NCT00276237
2 The Association Between Dopamine Agonists and Cardiac Valvulopathy, Fibrosis and Other Cardiopulmonary Events Completed NCT01052948
3 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
4 PULSTA® Transcatheter Pulmonary Valve Korean Multicenter Study Recruiting NCT03110861 Not Applicable
5 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT02555319 Not Applicable
6 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

Anatomical Context for Pulmonary Valve Disease

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 17)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.74 GATA4 GATA6 SLC6A11
2 axon guidance GO:0007411 9.7 FLRT3 PTPN11 SOS1
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.58 FLRT3 PTPN11 SPRED1
4 positive regulation of cardiac muscle cell proliferation GO:0060045 9.56 GATA6 TBX5
5 positive regulation of BMP signaling pathway GO:0030513 9.55 GATA4 GATA6
6 ventricular septum development GO:0003281 9.54 GATA4 TBX5
7 tissue development GO:0009888 9.51 GATA4 GATA6
8 digestive tract development GO:0048565 9.5 GATA4 GATA6 NKX2-6
9 anatomical structure formation involved in morphogenesis GO:0048646 9.49 GATA4 GATA6
10 neurotrophin TRK receptor signaling pathway GO:0048011 9.48 PTPN11 SOS1
11 atrial septum morphogenesis GO:0060413 9.46 GATA4 TBX5
12 pericardium development GO:0060039 9.43 NKX2-6 TBX5
13 cardiac muscle cell differentiation GO:0055007 9.43 GATA4 GATA6 TBX5
14 intestinal epithelial cell differentiation GO:0060575 9.37 GATA4 GATA6
15 endocardial cushion development GO:0003197 9.33 CRELD1 GATA4 TBX5
16 positive regulation of cardioblast differentiation GO:0051891 9.13 GATA4 GATA6 TBX5
17 heart development GO:0007507 9.1 FLRT3 GATA4 GATA6 NKX2-6 PTPN11 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 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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