MCID: PLM070
MIFTS: 57

Pulmonic Stenosis

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pulmonic Stenosis

MalaCards integrated aliases for Pulmonic Stenosis:

Name: Pulmonic Stenosis 56 74 52 29 6
Congenital Pulmonary Valve Stenosis 58 32
Valvular Pulmonic Stenosis 52
Pulmonary Valve Stenosis 71
Pulmonary Stenosis 71

Characteristics:

Orphanet epidemiological data:

58
congenital pulmonary valve stenosis
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (France),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),6-9/10000 (Germany),6-9/10000 (Hungary),1-9/100000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),6-9/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
? autosomal recessive, more likely multifactorial


HPO:

31

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 265500
ICD10 32 Q22.1
MESH via Orphanet 44 D011666
ICD10 via Orphanet 33 Q22.1
UMLS via Orphanet 72 C0162164
Orphanet 58 ORPHA3189
MedGen 41 C1956257
UMLS 71 C0034089 C1956257

Summaries for Pulmonic Stenosis

MalaCards based summary : Pulmonic Stenosis, also known as congenital pulmonary valve stenosis, is related to noonan syndrome 1 and leopard syndrome. An important gene associated with Pulmonic Stenosis is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are ERK Signaling and HIV Life Cycle. The drugs Dobutamine and Sympathomimetics have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related phenotypes are laryngeal stenosis and atrial septal defect

Wikipedia : 74 Pulmonic stenosis, is a dynamic or fixed obstruction of flow from the right ventricle of the heart to... more...

More information from OMIM: 265500

Related Diseases for Pulmonic Stenosis

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

(show top 50) (show all 185)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 31.0 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
2 leopard syndrome 30.9 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
3 cardiofaciocutaneous syndrome 1 30.9 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
4 double outlet right ventricle 30.7 ZIC3 GATA5 GATA4
5 ventricular septal defect 30.4 ZIC3 NR2F2 JAG1 GATA5 GATA4 BRAF
6 costello syndrome 30.3 SOS1 PTPN11 NF1 MAP2K2 MAP2K1 LRRC56
7 heart septal defect 30.3 ZIC3 SOS1 PTPN11 JAG1 GATA5 GATA4
8 neurofibromatosis, type iv, of riccardi 30.0 PTPN11 NF1 KRAS HRAS
9 aortic valve insufficiency 29.9 ZIC3 MYH11 GATA5
10 tetralogy of fallot 29.7 ZIC3 SOS1 PTPN11 JAG1 HRAS GATA5
11 atrial heart septal defect 29.7 ZIC3 SOS1 PTPN11 JAG1 HRAS GATA5
12 patent ductus arteriosus 1 29.5 ZIC3 SOS1 PTPN11 MYH11 JAG1 GATA4
13 pulmonary valve stenosis 29.4 SOS1 PTPN11 MAP2K2 MAP2K1 JAG1 GATA4
14 heart disease 29.0 ZIC3 SOS1 PTPN11 JAG1 HRAS GATA5
15 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 13.0
16 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 12.5
17 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 12.4
18 pulmonic stenosis and deafness 12.4
19 pulmonic stenosis and congenital nephrosis 12.4
20 watson syndrome 12.1
21 alagille syndrome 1 11.9
22 deafness, congenital heart defects, and posterior embryotoxon 11.6
23 keutel syndrome 11.6
24 pulmonary subvalvular stenosis 11.6
25 leopard syndrome 1 11.5
26 heterotaxy, visceral, 1, x-linked 11.5
27 ritscher-schinzel syndrome 1 11.3
28 mcdonough syndrome 11.3
29 leopard syndrome 2 11.3
30 leopard syndrome 3 11.3
31 cardiofaciocutaneous syndrome 2 11.3
32 cardiofaciocutaneous syndrome 3 11.3
33 cardiofaciocutaneous syndrome 4 11.3
34 congenital heart defects, multiple types, 4 11.3
35 congenital heart defects, multiple types, 5 11.3
36 spitzoid melanoma 10.6 HRAS BRAF
37 selection of therapeutic option in colorectal cancer 10.5 KRAS BRAF
38 signet ring basal cell carcinoma 10.5 KRAS HRAS
39 trachea carcinoma in situ 10.5 KRAS HRAS
40 hyperplastic polyposis syndrome 10.5 KRAS BRAF
41 nasal cavity adenocarcinoma 10.5 KRAS HRAS
42 apocrine adenoma 10.5 KRAS BRAF
43 patent foramen ovale 10.5
44 ampulla of vater neoplasm 10.4 KRAS HRAS
45 congestive heart failure 10.4
46 periampullary adenoma 10.4 KRAS HRAS
47 atypical coarctation of aorta 10.4 NF1 JAG1
48 eccrine papillary adenoma 10.4 KRAS HRAS
49 myh-associated polyposis 10.4 KRAS HRAS
50 appendix adenocarcinoma 10.4 KRAS HRAS

Graphical network of the top 20 diseases related to Pulmonic Stenosis:



Diseases related to Pulmonic Stenosis

Symptoms & Phenotypes for Pulmonic Stenosis

Human phenotypes related to Pulmonic Stenosis:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngeal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001602
2 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
3 malformation of the heart and great vessels 58 Occasional (29-5%)
4 pulmonic stenosis 31 HP:0001642

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
pulmonic stenosis

Clinical features from OMIM:

265500

GenomeRNAi Phenotypes related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

26 (show all 29)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.15 SOS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.15 BRAF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.15 PTPN11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.15 SOS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.15 PTPN11
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.15 SOS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.15 PTPN11
8 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.15 BRAF NF1 PTPN11 RAF1 SOS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.15 RAF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.15 RAF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.15 BRAF
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.15 BRAF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.15 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.15 PTPN11
15 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.15 BRAF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.15 BRAF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.15 BRAF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.15 BRAF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.15 PTPN11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.15 NF1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.15 BRAF PTPN11
22 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.15 RAF1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.15 PTPN11
24 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.15 NF1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.15 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.15 NF1
27 Decreased cell migration GR00055-A-1 9.73 BRAF HRAS KRAS MAP2K2 NF1 SOS1
28 Increased cell migration GR00055-A-3 9.55 BRAF HRAS KRAS NF1 SOS1
29 shRNA abundance <= 50% GR00343-S 9.4 GATA4 GATA5 KRAS MAP2K1 MAP2K2 NF1

MGI Mouse Phenotypes related to Pulmonic Stenosis:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 BRAF GATA4 HRAS IGFBP7 JAG1 KRAS
2 cardiovascular system MP:0005385 10.48 BRAF GATA4 GATA5 HRAS JAG1 KRAS
3 cellular MP:0005384 10.47 BRAF GATA4 GATA5 IGFBP7 JAG1 KRAS
4 endocrine/exocrine gland MP:0005379 10.44 BRAF GATA4 GATA5 HRAS IGFBP7 JAG1
5 homeostasis/metabolism MP:0005376 10.44 BRAF GATA4 GATA5 HRAS JAG1 KRAS
6 digestive/alimentary MP:0005381 10.43 BRAF GATA4 GATA5 HRAS JAG1 KRAS
7 mortality/aging MP:0010768 10.42 BRAF GATA4 GATA5 HRAS JAG1 KRAS
8 craniofacial MP:0005382 10.4 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
9 behavior/neurological MP:0005386 10.39 BRAF GATA5 HRAS JAG1 KRAS MAP2K2
10 integument MP:0010771 10.37 BRAF GATA4 GATA5 HRAS IGFBP7 JAG1
11 embryo MP:0005380 10.35 BRAF GATA4 JAG1 KRAS MAP2K1 NF1
12 nervous system MP:0003631 10.28 BRAF GATA4 HRAS JAG1 KRAS MAP2K1
13 muscle MP:0005369 10.22 BRAF GATA4 GATA5 JAG1 KRAS MYH11
14 hearing/vestibular/ear MP:0005377 10.2 BRAF JAG1 KRAS MAP2K1 MAP2K2 NF1
15 liver/biliary system MP:0005370 10.11 BRAF GATA4 JAG1 KRAS NF1 PTPN11
16 normal MP:0002873 10.11 BRAF GATA4 HRAS JAG1 KRAS MAP2K1
17 neoplasm MP:0002006 10.06 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
18 no phenotypic analysis MP:0003012 10.06 GATA4 HRAS IGFBP7 JAG1 KRAS NR2F2
19 reproductive system MP:0005389 10.03 BRAF GATA4 GATA5 IGFBP7 KRAS MAP2K1
20 skeleton MP:0005390 9.83 BRAF GATA4 GATA5 HRAS JAG1 KRAS
21 respiratory system MP:0005388 9.81 BRAF GATA4 HRAS KRAS MYH11 NF1
22 pigmentation MP:0001186 9.72 BRAF KRAS NF1 NR2F2 PTPN11
23 vision/eye MP:0005391 9.36 BRAF JAG1 KRAS MAP2K1 MAP2K2 NF1

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dobutamine Approved Phase 3 34368-04-2 36811
2 Sympathomimetics Phase 3
3 Neurotransmitter Agents Phase 3
4 Adrenergic beta-Agonists Phase 3
5 Autonomic Agents Phase 3
6 Adrenergic Agonists Phase 3
7 Protective Agents Phase 3
8 Adrenergic Agents Phase 3
9 Pharmaceutical Solutions Phase 2
10
Sodium citrate Approved, Investigational 68-04-2
11
Parathyroid hormone Approved, Investigational 9002-64-6
12
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
13
Calcium Approved, Nutraceutical 7440-70-2 271
14 Citrate
15 Chelating Agents
16 Hormones
17 Anticoagulants
18 Calcium, Dietary
19 Fluorides
20 Cariostatic Agents

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Cardiac Imaging Under Exercise Stress Test for Early Assessment of Right Ventricular Function in Patients With Tetralogy of Fallot and Pulmonary Regurgitation Terminated NCT00564993 Phase 3 Dobutamin
2 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
3 Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent Placement Withdrawn NCT02365415 Phase 2 Sirolimus
4 Catheter Denervation of Pulmonary Arteries in The Treatment of Idiopathic (PAH) & Secondary Pulmonary Hypertension (PH) Unknown status NCT02403908 Phase 1
5 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot. Unknown status NCT02186691
6 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
7 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
8 Implantation of the SAPIEN™ Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT01356108
9 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
10 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
11 Pulmonary Arteriopathy; Evaluation of Invasive Treatments of Peripheral Pulmonary Stenosis in Terms of Right Ventricular Function and Patient Exercise Tolerance Completed NCT00266175
12 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
13 Follow Up on Freestyle Valves for Right Ventricular Outflow Tract Reconstruction in Children Completed NCT00385112
14 Balloon Valvuloplasty Registry Completed NCT00005199
15 Proposal for Retrospective Review of Imaging Pre- and Post - Pulmonary Valve Replacement Completed NCT00446108
16 Pulmonic SAPIEN XT™ THV A Multi-center, Observational Registry With Retrospective Enrollment of Patients That Underwent Transcatheter Pulmonic Valve Implantation and a Retrospective or Prospective Follow-up Completed NCT02302131
17 A Retrospective Study of Hypoxemia in Infants After Palliative Neonatal Surgery for Congenital Heart Disease Completed NCT00327977
18 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
19 New Enrollment SAPIEN XT Post-Approval Study Recruiting NCT02987387
20 Multicenter Study of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777
21 COngenital Multicenter Trial of Pulmonic vAlve Dysfunction Studying the SAPIEN 3 interventIONal THV Recruiting NCT02744677
22 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Recruiting NCT02917980
23 Right Ventricular Diastolic Function in Chronic Adverse RV Loading And Congenital Heart Disease Recruiting NCT03471936
24 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
25 Sudden Cardiac Death in Congenital Heart Diseases With a Systemic Right Ventricle Recruiting NCT03833843
26 A Prospective, Multicenter, Single Arm Study to Evaluate the Safety and Effectiveness of Implantation of 'Transcatheter Pulmonary Valve (TPV)' for the Treatment of Congenital Heart Disease With Pulmonary Valve Disease Active, not recruiting NCT03110861
27 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Implantation of Transcatheter Pulmonary Valve (TPV) for the Treatment of Congenital Heart Disease With Pulmonary Valve Disease Active, not recruiting NCT02555319
28 Implantation of the SAPIEN Transcatheter Heart Valve (THV) in the Pulmonic Position Active, not recruiting NCT00676689
29 Pulmonic SAPIEN S3™ THV Registry A Multi-center, Observational Registry With Retrospective Enrollment of Patients That Underwent Transcatheter Pulmonic Valve Implantation and a Retrospective or Prospective Follow-up Active, not recruiting NCT02777892
30 Prospective, Non-randomised, Open Label Clinical Study to Assess the Safety of the Bioabsorbable Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract (RVOT) Reconstruction Active, not recruiting NCT02700100
31 The PULSTA Transcatheter Pulmonary Valve (TPV) Pre-Approval Study Not yet recruiting NCT03983512
32 Clinical Management of Children With Mild Valvar Pulmonary Stenosis Terminated NCT00277927
33 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163
34 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Alprostadil

Genetic Tests for Pulmonic Stenosis

Genetic tests related to Pulmonic Stenosis:

# Genetic test Affiliating Genes
1 Pulmonic Stenosis 29

Anatomical Context for Pulmonic Stenosis

MalaCards organs/tissues related to Pulmonic Stenosis:

40
Heart, Lung, Skin, Thyroid, Myeloid, Testes, B Cells

Publications for Pulmonic Stenosis

Articles related to Pulmonic Stenosis:

(show top 50) (show all 830)
# Title Authors PMID Year
1
Familial congenital valvular pulmonic stenosis. 61 56
4852014 1974
2
A family with congenital pulmonary valve stenosis. 61 56
4847731 1974
3
Hereditary dysplasia of the pulmonary valve in beagle dogs. Pathologic and genetic studies. 56
7468498 1981
4
Familial pulmonary stenosis with underdeveloped or normal right ventricle. 56
1111560 1975
5
Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1188 cases. 56
13410899 1957
6
[Congenital pulmonary stenosis in two sisters]. 56
12987021 1952
7
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. 61
31595648 2020
8
Peripheral pulmonic stenosis in SAPHO syndrome. 61
31711136 2020
9
Left main coronary artery compression by the right pulmonary artery in a patient with congenital pulmonic stenosis. 61
31996858 2020
10
Evaluation of non-ECG and ECG-gated computed tomographic angiography for three-dimensional printing of anomalous coronary arteries in dogs with pulmonic stenosis. 61
31794916 2019
11
Patent ductus arteriosus and pulmonic stenosis in a dog: Treatment using an Amplatz canine duct occluder device with concurrent balloon valvuloplasty. 61
31692581 2019
12
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome. 61
31730227 2019
13
Utility of 3D Printed Cardiac Models for Medical Student Education in Congenital Heart Disease: Across a Spectrum of Disease Severity. 61
31240370 2019
14
Breed does not affect the association between murmur intensity and disease severity in dogs with pulmonic or subaortic stenosis. 61
31032935 2019
15
Right ventricular and pulmonary vascular function indices for risk stratification of patients with pulmonary regurgitation. 61
30957982 2019
16
Assessment of Right Ventricular-Pulmonary Arterial Coupling in Chronic Pulmonary Regurgitation. 61
31292091 2019
17
Hemodynamically balanced congenitally corrected transposition of the great arteries with a large ventricular septal defect, and subvalvular pulmonic stenosis: a case report. 61
31319891 2019
18
Coronary Artery Disease in Adults With Coarctation of Aorta: Incidence, Risk Factors, and Outcomes. 61
31195876 2019
19
Stent angioplasty for treatment of canine valvular pulmonic stenosis. 61
30797444 2019
20
Management of the Adult Patient With Congenitally Corrected Transposition: Challenges and Uncertainties. 61
31027566 2019
21
Flow-related right ventricular to pulmonary arterial pressure gradients during exercise. 61
29878071 2019
22
Congenital Cardiac Outflow Tract Abnormalities in Dogs: Prevalence and Pattern of Inheritance From 2008 to 2017. 61
30873420 2019
23
Specific features and survival of French bulldogs with congenital pulmonic stenosis: a prospective cohort study of 66 cases. 61
30526956 2018
24
Causes and hemodynamic findings in chronic severe pulmonary regurgitation. 61
26104675 2018
25
Progressive right ventricular enlargement due to pulmonary regurgitation: Clinical characteristics of a "low-risk" group. 61
29793063 2018
26
Sudden death in patients with Ebstein anomaly. 61
29315367 2018
27
Congenitally Corrected Transposition of the Great Arteries in a Septuagenarian from the Developing Country of Pakistan. 61
30087813 2018
28
Evaluation and Management of Right-Sided Heart Failure: A Scientific Statement From the American Heart Association. 61
29650544 2018
29
Murmur intensity in adult dogs with pulmonic and subaortic stenosis reflects disease severity. 61
29023732 2018
30
Severe subvalvular pulmonic stenosis due to a ball-shaped accessory tissue in an asymptomatic woman with congenitally corrected transposition of great arteries and mesocardia: A rare case report. 61
29148606 2018
31
Surgical treatment of pulmonic stenosis in dogs under cardiopulmonary bypass: outcome in nine dogs. 61
29193096 2018
32
Exertional dyspnoea in a 28-year-old woman. 61
28954831 2017
33
Acquired Heart Disease Superimposed on Congenital Heart Disease. 61
28912039 2017
34
Intimal spindle cell sarcoma masquerading as adult-onset symptomatic pulmonic stenosis: a case report and review of the literature. 61
29084562 2017
35
Pulmonic Valve Disease: Review of Pathology and Current Treatment Options. 61
28916901 2017
36
Estimating pressure gradients by auscultation: How technology (echocardiography) can help improve clinical skills. 61
28932358 2017
37
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. 61
28697788 2017
38
Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing. 61
27763634 2017
39
N-Terminal Pro-B-Type Natriuretic Peptide and Phonocardiography in Differentiating Innocent Cardiac Murmurs from Congenital Cardiac Anomalies in Asymptomatic Puppies. 61
28316101 2017
40
Dehiscence of a pulmonary bioprosthesis with a focal dissection of the pulmonary artery in a patient with congenital pulmonic stenosis. 61
28345243 2017
41
Full Development of Consequences of Congenital Pulmonic Stenosis in Eighty-Four Years. 61
28256252 2017
42
Pulmonary artery dissection following balloon valvuloplasty in a dog with pulmonic stenosis. 61
27913078 2017
43
Use of 3D printer technology to facilitate surgical correction of a complex vascular anomaly with esophageal entrapment in a dog. 61
28094152 2017
44
Infundibular Pulmonic Stenosis in a Moluccan Cockatoo (Cacatua moluccensis). 61
28358604 2017
45
Balloon dilation of congenital supravalvular pulmonic stenosis in a dog. 61
27297421 2017
46
Aneurysm of the Pulmonary Artery in Fallot's Tetralogy. 61
28611926 2017
47
Unsuccessful transjugular intrahepatic portosystemic shunt for a patient with right heart failure and portal hypertension. 61
29364100 2017
48
Use of ECG-gated computed tomography, echocardiography and selective angiography in five dogs with pulmonic stenosis and one dog with pulmonic stenosis and aberrant coronary arteries. 61
27693045 2016
49
Epidemiological, clinical, and echocardiographic features and survival times of dogs and cats with tetralogy of Fallot: 31 cases (2003-2014). 61
27700266 2016
50
An unusual fenestration in single-stage Fontan operation. 61
27316660 2016

Variations for Pulmonic Stenosis

ClinVar genetic disease variations for Pulmonic Stenosis:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(9;11)(q34;p11.2)dnTranslocation Pathogenic 267847
2 46;XX;ins(5;6)(p13;p24p25)dnTranslocation Pathogenic 267851
3 46;XX;t(19;21)(q13.3;q22.3)dnTranslocation Pathogenic 268035
4 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg)SNV Pathogenic 40672 rs397517148 2:39250269-39250269 2:39023128-39023128
5 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
6 BRAF NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)SNV Pathogenic/Likely pathogenic 13978 rs180177039 7:140477806-140477806 7:140778006-140778006
7 ZNF526 NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)SNV Likely pathogenic 183288 rs730882205 19:42729034-42729034 19:42224882-42224882
8 GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn)SNV Conflicting interpretations of pathogenicity 9034 rs56208331 8:11615928-11615928 8:11758419-11758419
9 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
10 HRAS NM_005343.4(HRAS):c.277A>G (p.Ile93Val)SNV Uncertain significance 40439 rs587782949 11:533779-533779 11:533779-533779
11 MYH11 NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)SNV Uncertain significance 492839 rs1555554139 16:15820835-15820835 16:15726978-15726978

Expression for Pulmonic Stenosis

Search GEO for disease gene expression data for Pulmonic Stenosis.

Pathways for Pulmonic Stenosis

Pathways related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

(show top 50) (show all 181)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.98 SOX3 SOS1 RAF1 NF1 MYH11 MAP2K2
2
Show member pathways
13.87 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
3
Show member pathways
13.67 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
4
Show member pathways
13.67 ZIC3 SOS1 RAF1 PTPN11 NR2F2 NF1
5
Show member pathways
13.56 SOS1 RAF1 MYH11 MAP2K2 MAP2K1 KRAS
6
Show member pathways
13.55 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
7
Show member pathways
13.45 SOS1 RAF1 PTPN11 KRAS HRAS GATA5
8
Show member pathways
13.42 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
9
Show member pathways
13.35 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
10
Show member pathways
13.28 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
11
Show member pathways
13.24 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
12
Show member pathways
13.21 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
13
Show member pathways
13.18 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
14
Show member pathways
13.18 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
15
Show member pathways
13.17 SOS1 RAF1 MAP2K2 MAP2K1 KRAS JAG1
16
Show member pathways
13.12 RAF1 MYH11 MAP2K2 MAP2K1 KRAS HRAS
17
Show member pathways
13.12 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
18
Show member pathways
13.1 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
19
Show member pathways
13.09 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
20
Show member pathways
13.09 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
21
Show member pathways
13.09 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
22
Show member pathways
13.08 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
23
Show member pathways
13.07 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
24 13.07 SOS1 RAF1 MAP2K2 MAP2K1 KRAS JAG1
25
Show member pathways
13.06 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
26
Show member pathways
13.06 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
27
Show member pathways
13.04 SOS1 RAF1 MAP2K1 KRAS HRAS BRAF
28
Show member pathways
13.02 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
29
Show member pathways
13 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
30
Show member pathways
12.99 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
31 12.98 SOS1 RAF1 NF1 MAP2K2 MAP2K1 KRAS
32
Show member pathways
12.97 SOS1 RAF1 MAP2K2 MAP2K1 KRAS JAG1
33
Show member pathways
12.93 RAF1 MAP2K2 MAP2K1 KRAS HRAS
34
Show member pathways
12.93 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
35
Show member pathways
12.92 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
36
Show member pathways
12.87 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
37
Show member pathways
12.87 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
38
Show member pathways
12.86 SOS1 RAF1 MAP2K2 MAP2K1 KRAS BRAF
39
Show member pathways
12.86 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
40 12.86 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
41
Show member pathways
12.83 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
42
Show member pathways
12.82 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
43
Show member pathways
12.81 SOS1 RAF1 NF1 MAP2K2 MAP2K1 KRAS
44
Show member pathways
12.8 SOS1 RAF1 MYH11 MAP2K2 MAP2K1 HRAS
45
Show member pathways
12.79 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
46
Show member pathways
12.78 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
47
Show member pathways
12.78 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
48 12.75 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
49
Show member pathways
12.74 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
50
Show member pathways
12.74 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 HRAS

GO Terms for Pulmonic Stenosis

Biological processes related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.04 ZIC3 NR2F2 MAP2K2 MAP2K1 GATA5 GATA4
2 positive regulation of gene expression GO:0010628 10.02 MAP2K1 KRAS HRAS GATA5 BRAF
3 negative regulation of cell proliferation GO:0008285 10.02 RAF1 NF1 MAP2K1 IGFBP7 HRAS
4 negative regulation of gene expression GO:0010629 9.96 MAP2K2 MAP2K1 HRAS GATA5
5 heart development GO:0007507 9.89 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.85 PTPN11 MAP2K1 HRAS GATA4 BRAF
7 somatic stem cell population maintenance GO:0035019 9.77 ZIC3 RAF1 BRAF
8 visual learning GO:0008542 9.75 NF1 KRAS BRAF
9 positive regulation of axonogenesis GO:0050772 9.72 MAP2K2 MAP2K1 BRAF
10 aortic valve morphogenesis GO:0003180 9.69 JAG1 GATA5 GATA4
11 Ras protein signal transduction GO:0007265 9.67 SOS1 NF1 KRAS HRAS
12 placenta blood vessel development GO:0060674 9.65 NR2F2 MAP2K1
13 regulation of synaptic transmission, GABAergic GO:0032228 9.65 NF1 KRAS
14 cardiac right ventricle morphogenesis GO:0003215 9.65 JAG1 GATA4
15 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.64 MAP2K2 MAP2K1
16 regulation of stress-activated MAPK cascade GO:0032872 9.64 MAP2K2 MAP2K1
17 intestinal epithelial cell differentiation GO:0060575 9.63 GATA5 GATA4
18 regulation of protein heterodimerization activity GO:0043497 9.63 MAP2K2 MAP2K1
19 thymus development GO:0048538 9.62 RAF1 MAP2K2 MAP2K1 BRAF
20 regulation of early endosome to late endosome transport GO:2000641 9.61 MAP2K2 MAP2K1
21 Bergmann glial cell differentiation GO:0060020 9.61 PTPN11 MAP2K1
22 regulation of long-term neuronal synaptic plasticity GO:0048169 9.61 NF1 KRAS HRAS
23 trachea formation GO:0060440 9.59 MAP2K2 MAP2K1
24 response to isolation stress GO:0035900 9.58 KRAS HRAS
25 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 SOS1 RAF1 PTPN11
26 regulation of Golgi inheritance GO:0090170 9.56 MAP2K2 MAP2K1
27 MAPK cascade GO:0000165 9.56 SOS1 RAF1 NF1 MAP2K2 MAP2K1 KRAS
28 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.54 MAP2K2 MAP2K1
29 cerebellar cortex formation GO:0021697 9.52 PTPN11 MAP2K1
30 forebrain astrocyte development GO:0021897 9.48 NF1 KRAS
31 thyroid gland development GO:0030878 9.46 RAF1 MAP2K2 MAP2K1 BRAF
32 regulation of axon regeneration GO:0048679 9.43 MAP2K2 MAP2K1 BRAF
33 face development GO:0060324 9.02 SOX3 RAF1 MAP2K2 MAP2K1 BRAF

Molecular functions related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.1 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF

Sources for Pulmonic Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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