MCID: PLM070
MIFTS: 60

Pulmonic Stenosis

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Pulmonic Stenosis

MalaCards integrated aliases for Pulmonic Stenosis:

Name: Pulmonic Stenosis 57 76 53 29 6
Congenital Pulmonary Valve Stenosis 59
Valvular Pulmonic Stenosis 53
Pulmonary Valve Stenosis 73
Pulmonary Stenosis 73

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
? autosomal recessive, more likely multifactorial


Classifications:



External Ids:

OMIM 57 265500
Orphanet 59 ORPHA3189
MESH via Orphanet 45 D011666
UMLS via Orphanet 74 C0162164
ICD10 via Orphanet 34 Q22.1
MedGen 42 C1956257
ICD10 33 Q22.1
UMLS 73 C1956257

Summaries for Pulmonic Stenosis

MalaCards based summary : Pulmonic Stenosis, also known as congenital pulmonary valve stenosis, is related to pulmonary valve stenosis and leopard syndrome. An important gene associated with Pulmonic Stenosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Signaling by GPCR and Apoptotic Pathways in Synovial Fibroblasts. The drugs Minoxidil and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and b cells, and related phenotypes are laryngeal stenosis and atrial septal defect

Wikipedia : 76 Pulmonic stenosis, also known as pulmonary stenosis, is a dynamic or fixed obstruction of flow from the... more...

Description 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 115)
# Related Disease Score Top Affiliating Genes
1 pulmonary valve stenosis 31.2 JAG1 PTPN11 SOS1
2 leopard syndrome 30.9 BRAF HRAS NF1 PTPN11 RAF1
3 ventricular septal defect 30.2 BRAF JAG1 NR2F2
4 costello syndrome 30.1 HRAS KRAS MAP2K1 MAP2K2 PTPN11 SOS1
5 cardiofaciocutaneous syndrome 1 29.9 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
6 noonan syndrome 1 28.6 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
7 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 12.5
8 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 12.1
9 pulmonic stenosis and deafness 12.1
10 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 12.1
11 pulmonic stenosis and congenital nephrosis 12.1
12 watson syndrome 11.8
13 pulmonary subvalvular stenosis 11.7
14 keutel syndrome 11.3
15 leopard syndrome 1 11.2
16 heterotaxy, visceral, 1, x-linked 11.2
17 leopard syndrome 2 11.0
18 leopard syndrome 3 11.0
19 cardiofaciocutaneous syndrome 2 11.0
20 cardiofaciocutaneous syndrome 3 11.0
21 cardiofaciocutaneous syndrome 4 11.0
22 congenital heart defects, multiple types, 4 11.0
23 sigmoid neoplasm 10.7 HRAS KRAS
24 apocrine adenoma 10.6 HRAS KRAS
25 schimmelpenning-feuerstein-mims syndrome 10.6 HRAS KRAS
26 periampullary adenoma 10.6 HRAS KRAS
27 hyperplastic polyposis syndrome 10.6 BRAF KRAS
28 kyasanur forest disease 10.6 KRAS RAF1
29 paronychia 10.6 HRAS KRAS
30 ovarian melanoma 10.6 HRAS MAP2K1
31 prostate adenoid cystic carcinoma 10.6 HRAS LRRC56
32 lentigines 10.5 BRAF PTPN11 RAF1
33 noonan syndrome with multiple lentigines 10.5 BRAF PTPN11 RAF1
34 syringocystadenoma papilliferum 10.5 BRAF KRAS
35 bile duct cysts 10.5 HRAS KRAS
36 st. louis encephalitis 10.5 KRAS RAF1
37 hypertelorism 10.5 BRAF PTPN11 RAF1
38 aggressive digital papillary adenocarcinoma 10.4 HRAS KRAS
39 spitz nevus 10.4 BRAF HRAS LRRC56
40 colorectal adenocarcinoma 10.4 BRAF HRAS KRAS
41 differentiated thyroid carcinoma 10.4 BRAF HRAS KRAS
42 lung benign neoplasm 10.4 HRAS KRAS RAF1
43 ovarian serous cystadenocarcinoma 10.4 BRAF HRAS LRRC56
44 villonodular synovitis 10.4 PTPN11 SOS1
45 secondary hypertrophic osteoarthropathy 10.3 HRAS KRAS
46 autosomal dominant café au lait spots 10.3 NF1 PTPN11
47 acneiform dermatitis 10.3 HRAS KRAS MAP2K1
48 tetralogy of fallot 10.3
49 atrial heart septal defect 10.3
50 double outlet right ventricle 10.3

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



Diseases related to Pulmonic Stenosis

Symptoms & Phenotypes for Pulmonic Stenosis

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
pulmonic stenosis


Clinical features from OMIM:

265500

Human phenotypes related to Pulmonic Stenosis:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngeal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001602
2 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
3 malformation of the heart and great vessels 59 Occasional (29-5%)
4 pulmonic stenosis 32 HP:0001642

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

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.17 SOS1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.17 BRAF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.17 RAF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.17 PTPN11
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.17 SOS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.17 PTPN11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 10.17 SOS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.17 SOS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.17 PTPN11
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.17 PTPN11 BRAF RAF1 SOS1 NF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.17 RAF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.17 RAF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.17 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.17 BRAF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.17 PTPN11
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.17 PTPN11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.17 BRAF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.17 BRAF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.17 BRAF
20 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.17 BRAF
21 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.17 PTPN11
22 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.17 NF1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.17 PTPN11 BRAF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.17 RAF1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.17 PTPN11
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.17 NF1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.17 PTPN11
28 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.17 NF1
29 Decreased cell migration GR00055-A-1 9.73 HRAS KRAS SOS1 MAP2K2 NF1 BRAF
30 Increased cell migration GR00055-A-3 9.55 BRAF HRAS KRAS SOS1 NF1
31 shRNA abundance <= 50% GR00343-S 9.32 PTPN11 RAF1 KRAS MAP2K1 MAP2K2 SOS1

MGI Mouse Phenotypes related to Pulmonic Stenosis:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 NF1 PTPN11 NR2F2 RAF1 ZIC3 SOS1
2 growth/size/body region MP:0005378 10.36 NF1 PTPN11 NR2F2 RAF1 ZIC3 SOS1
3 endocrine/exocrine gland MP:0005379 10.34 NF1 PTPN11 NR2F2 SOS1 RAF1 BRAF
4 cellular MP:0005384 10.33 NF1 PTPN11 SOS1 RAF1 ZIC3 IGFBP7
5 craniofacial MP:0005382 10.32 NF1 PTPN11 ZIC3 SOS1 RAF1 JAG1
6 digestive/alimentary MP:0005381 10.32 NF1 PTPN11 NR2F2 ZIC3 SOS1 BRAF
7 behavior/neurological MP:0005386 10.3 NF1 PTPN11 MAP2K2 RAF1 ZIC3 HRAS
8 embryo MP:0005380 10.27 NF1 PTPN11 NR2F2 RAF1 ZIC3 SOS1
9 homeostasis/metabolism MP:0005376 10.26 NR2F2 NF1 MAP2K2 SOS1 RAF1 PTPN11
10 mortality/aging MP:0010768 10.26 NR2F2 NF1 PTPN11 SOS1 RAF1 ZIC3
11 integument MP:0010771 10.25 NF1 PTPN11 RAF1 SOS1 BRAF IGFBP7
12 hearing/vestibular/ear MP:0005377 10.19 NF1 PTPN11 RAF1 ZIC3 BRAF JAG1
13 nervous system MP:0003631 10.14 NF1 PTPN11 NR2F2 SOS1 RAF1 ZIC3
14 muscle MP:0005369 10.06 NR2F2 NF1 PTPN11 SOS1 RAF1 BRAF
15 liver/biliary system MP:0005370 10.04 NF1 PTPN11 RAF1 ZIC3 BRAF JAG1
16 neoplasm MP:0002006 10.03 NF1 PTPN11 RAF1 HRAS BRAF MAP2K1
17 normal MP:0002873 10.02 NF1 PTPN11 RAF1 ZIC3 BRAF JAG1
18 no phenotypic analysis MP:0003012 9.97 PTPN11 NR2F2 RAF1 SOS1 HRAS IGFBP7
19 respiratory system MP:0005388 9.7 NF1 PTPN11 RAF1 ZIC3 HRAS BRAF
20 skeleton MP:0005390 9.7 NF1 PTPN11 RAF1 ZIC3 SOS1 BRAF
21 pigmentation MP:0001186 9.65 NR2F2 NF1 PTPN11 BRAF KRAS
22 vision/eye MP:0005391 9.36 NF1 PTPN11 NR2F2 RAF1 ZIC3 SOS1

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minoxidil Approved, Investigational Phase 2 38304-91-5 4201
2 Antihypertensive Agents Phase 2
3 Vasodilator Agents Phase 2
4
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
5 Anticoagulants
6 Bone Density Conservation Agents
7 Calcium, Dietary
8 Chelating Agents
9 Hormones
10 Citrate Nutraceutical

Interventional clinical trials:

(show all 27)
# 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 Withdrawn NCT02365415 Phase 2 Sirolimus
3 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Unknown status NCT02186691 Not Applicable
4 Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right Heart Unknown status NCT01444222
5 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Unknown status NCT02486731
6 Pulmonary Arteriopathy-Diagnostics and Therapy Completed NCT00266175
7 Follow Up on Freestyle Valves in Children Completed NCT00385112
8 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
9 Pulmonary Artery Repair With Covered Stents Completed NCT01824160 Not Applicable
10 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
11 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
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 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
14 PULSTA® Transcatheter Pulmonary Valve Korean Multicenter Study Recruiting NCT03110861 Not Applicable
15 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
16 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Recruiting NCT02987387 Not Applicable
17 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777 Not Applicable
18 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
19 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
20 Tetralogy of Fallot for Life Recruiting NCT02968264
21 Pulmonic Valve REplacement Multi-discIpline EMEA Registry Active, not recruiting NCT01356108
22 COMPASSION - COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THV Active, not recruiting NCT00676689 Not Applicable
23 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT02555319 Not Applicable
24 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
25 Implantation of the Venus P-Valveā„¢ in the Pulmonic Position in Patients With Native Outflow Tracts Not yet recruiting NCT02846753 Not Applicable
26 Mild Valvar Pulmonary Stenosis Terminated NCT00277927
27 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Heart, Bone, B Cells, Liver, Lung

Publications for Pulmonic Stenosis

Articles related to Pulmonic Stenosis:

(show top 50) (show all 345)
# Title Authors Year
1
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. ( 29148606 )
2018
2
Surgical treatment of pulmonic stenosis in dogs under cardiopulmonary bypass: outcome in nine dogs. ( 29193096 )
2018
3
Infundibular Pulmonic Stenosis in a Moluccan Cockatoo (Cacatua moluccensis). ( 28358604 )
2017
4
Full Development of Consequences of Congenital Pulmonic Stenosis in Eighty-Four Years. ( 28256252 )
2017
5
Dehiscence of a pulmonary bioprosthesis with a focal dissection of the pulmonary artery in a patient with congenital pulmonic stenosis. ( 28345243 )
2017
6
Intimal spindle cell sarcoma masquerading as adult-onset symptomatic pulmonic stenosis: a case report and review of the literature. ( 29084562 )
2017
7
Aortic Translocation for Repair of Transposition of the Great Arteries (S,D,L) With Ventricular Septal Defect and Pulmonic Stenosis. ( 26694279 )
2016
8
Pulmonary artery dissection following balloon valvuloplasty in a dog with pulmonic stenosis. ( 27913078 )
2016
9
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. ( 27693045 )
2016
10
Balloon dilation of congenital supravalvular pulmonic stenosis in a dog. ( 27297421 )
2016
11
50 Years Ago in The Journal of Pediatrics: Valvular Pulmonic Stenosis in Infancy. ( 26719177 )
2016
12
Palliative balloon dilation of pulmonic stenosis in a dog with tetralogy of Fallot. ( 27025569 )
2016
13
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. ( 26178382 )
2015
14
Anaesthetic management and complications of balloon valvuloplasty for pulmonic stenosis in dogs. ( 26374780 )
2015
15
Comparison of long-term postoperative sequelae in patients with tetralogy of Fallot versus isolated pulmonic stenosis. ( 24878128 )
2014
16
Combined aortic and pulmonic stenosis in an octogenarian: findings from echocardiography, catheterization, and pathology. ( 24493808 )
2014
17
Plasma N-terminal pro B-type natriuretic peptide concentrations in dogs with pulmonic stenosis. ( 24561377 )
2014
18
Giant left atrial appendage mimicking a mediastinal mass in a new diagnosis of atrial septal defect and pulmonic stenosis. ( 24794055 )
2014
19
Management and complications of anaesthesia during balloon valvuloplasty for pulmonic stenosis in dogs: 39 cases (2000 to 2012). ( 24450439 )
2014
20
Endovascular stenting of suture line supravalvular pulmonic stenosis after orthotopic heart transplantation using rapid pacing stabilization. ( 25147046 )
2014
21
Pulmonic stenosis in dogs: survival and risk factors in a retrospective cohort of patients. ( 23889710 )
2013
22
Novel coronary artery anomaly in an English Bulldog with pulmonic stenosis. ( 23869559 )
2013
23
A large left ventricular diverticulum in a patient withA congenital pulmonic stenosis. ( 23684527 )
2013
24
Surgical therapy for canine congenital valvular pulmonic stenosis: when and how? ( 22283792 )
2012
25
Pseudo-pulmonic stenosis in non-hodgkin's large B-cell lymphoma. ( 22494268 )
2012
26
Prevalence of patent foramen ovale with right-to-left shunting in dogs with pulmonic stenosis. ( 22151278 )
2012
27
Surgical treatment of severe pulmonic stenosis under cardiopulmonary bypass in small dogs. ( 22225461 )
2012
28
Evidence for increased probability of cardiac death in dogs with pulmonic stenosis questionable. ( 22533322 )
2012
29
Massive dilatation of the pulmonary artery in association with pulmonic stenosis and pulmonary hypertension. ( 22837867 )
2012
30
The relevance of echocardiography heart measures for breeding against the risk of subaortic and pulmonic stenosis in Boxer dogs. ( 21908643 )
2012
31
Outcome in 55 dogs with pulmonic stenosis that did not undergo balloon valvuloplasty or surgery. ( 21627655 )
2011
32
Balloon valvuloplasty for treatment of pulmonic stenosis in English Bulldogs with an aberrant coronary artery--2 years later. ( 21777287 )
2011
33
A case of valvular pulmonic stenosis and an aberrant coronary artery in a Brittany spaniel. ( 22043079 )
2011
34
[Prevalence of heart murmurs, aortic and pulmonic stenosis in boxers presented for pre-breeding exams in Switzerland]. ( 20582897 )
2010
35
Addition of color Doppler to the routine obstetric sonographic survey aids in the detection of pulmonic stenosis. ( 20720393 )
2010
36
Balloon valvuloplasty for treatment of pulmonic stenosis in English Bulldogs with an aberrant coronary artery. ( 20102492 )
2010
37
Congenital pulmonic stenosis in a 77-year-old woman successfully treated with percutaneous balloon valvuloplasty. ( 20157499 )
2010
38
A case of left main systolic compression caused by a dilated pulmonary artery in a patient with congenital pulmonic stenosis. ( 21041858 )
2010
39
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. ( 20437614 )
2010
40
Efficacy of open patch-grafting under cardiopulmonary bypass for pulmonic stenosis in small dogs. ( 19245618 )
2009
41
Histological study of right ventricle-pulmonary artery valved conduit implantation (RPVC) in dogs with pulmonic stenosis. ( 19420842 )
2009
42
Cardiovascular effects of right ventricle-pulmonary artery valved conduit implantation in experimental pulmonic stenosis. ( 19420852 )
2009
43
Cardiac troponin I and C-reactive protein concentrations in dogs with severe pulmonic stenosis before and after balloon valvuloplasty. ( 19473901 )
2009
44
Percutaneous balloon valvuloplasty for pulmonic stenosis: the role of multimodality imaging. ( 18190536 )
2008
45
Presentation of pulmonary artery intimal sarcoma in an infant with a history of neonatal valvular pulmonic stenosis. ( 18291210 )
2008
46
Aneurysm of right ventricular outflow tract with pulmonic stenosis 28 years after atrial septal defect repair. ( 18258521 )
2008
47
Surgical correction of pulmonic stenosis using transventricular pulmonic dilation valvuloplasty (Brock) in a dog. ( 17485937 )
2007
48
Increased chymase-like activity in a dog with congenital pulmonic stenosis. ( 17689467 )
2007
49
An unusual severe pulmonic stenosis case without significant electrocardiographic changes. ( 18065320 )
2007
50
Partial anomalous pulmonary venous return presenting as pseudo-pulmonic stenosis. ( 19083893 )
2007

Variations for Pulmonic Stenosis

ClinVar genetic disease variations for Pulmonic Stenosis:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806
2 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh38 Chromosome 7, 140778006: 140778006
3 SOS1 NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg) single nucleotide variant Pathogenic rs397517148 GRCh37 Chromosome 2, 39250269: 39250269
4 SOS1 NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg) single nucleotide variant Pathogenic rs397517148 GRCh38 Chromosome 2, 39023128: 39023128
5 ZNF526 NM_133444.2(ZNF526): c.479A> C (p.Lys160Thr) single nucleotide variant Likely pathogenic rs730882205 GRCh38 Chromosome 19, 42224882: 42224882
6 ZNF526 NM_133444.2(ZNF526): c.479A> C (p.Lys160Thr) single nucleotide variant Likely pathogenic rs730882205 GRCh37 Chromosome 19, 42729034: 42729034
7 46;XY;t(9;11)(q34;p11.2)dn Translocation Pathogenic
8 46;XX;ins(5;6)(p13;p24p25)dn Translocation Pathogenic
9 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
10 MYH11 NM_002474.2(MYH11): c.3728T> C (p.Leu1243Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 15820835: 15820835
11 MYH11 NM_002474.2(MYH11): c.3728T> C (p.Leu1243Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 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 183)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.26 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
2
Show member pathways
13.95 BRAF HRAS KRAS MAP2K1 MAP2K2 POLR2B
3
Show member pathways
13.87 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
4
Show member pathways
13.8 BRAF HRAS KRAS MAP2K1 MAP2K2 POLR2B
5
Show member pathways
13.77 BRAF HRAS KRAS MAP2K1 MAP2K2 POLR2B
6
Show member pathways
13.63 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
7
Show member pathways
13.61 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
8
Show member pathways
13.6 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
9
Show member pathways
13.53 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10
Show member pathways
13.5 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
11
Show member pathways
13.44 HRAS KRAS MAP2K1 MAP2K2 POLR2B RAF1
12
Show member pathways
13.4 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
13
Show member pathways
13.23 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
14
Show member pathways
13.2 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
15
Show member pathways
13.2 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
16
Show member pathways
13.17 HRAS KRAS MAP2K1 MAP2K2 RAF1 SOS1
17
Show member pathways
13.16 HRAS KRAS MAP2K1 MAP2K2 RAF1 SOS1
18
Show member pathways
13.16 HRAS JAG1 KRAS MAP2K1 MAP2K2 RAF1
19
Show member pathways
13.15 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
20
Show member pathways
13.1 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
21
Show member pathways
13.1 HRAS KRAS MAP2K1 MAP2K2 POLR2B RAF1
22
Show member pathways
13.1 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
23
Show member pathways
13.1 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
24
Show member pathways
13.09 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
25
Show member pathways
13.07 BRAF HRAS KRAS MAP2K1 POLR2B RAF1
26
Show member pathways
13.06 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
27
Show member pathways
13.06 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
28
Show member pathways
13.06 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
29 13.03 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
30
Show member pathways
13 HRAS KRAS MAP2K1 RAF1 SOS1
31
Show member pathways
13 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
32
Show member pathways
12.99 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
33
Show member pathways
12.99 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
34
Show member pathways
12.99 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
35
Show member pathways
12.97 HRAS MAP2K1 MAP2K2 RAF1 SOS1
36 12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
37
Show member pathways
12.95 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
38
Show member pathways
12.92 HRAS KRAS MAP2K1 MAP2K2 RAF1
39
Show member pathways
12.91 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
40
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12.9 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
41
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12.89 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
42
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12.88 BRAF HRAS KRAS MAP2K1 MAP2K2 POLR2B
43
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12.87 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
44
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12.86 BRAF KRAS MAP2K1 MAP2K2 RAF1 SOS1
45
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12.85 HRAS KRAS MAP2K1 MAP2K2 RAF1 SOS1
46 12.84 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
47
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12.84 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
48
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12.82 HRAS MAP2K1 MAP2K2 POLR2B RAF1 SOS1
49
Show member pathways
12.8 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
50
Show member pathways
12.77 HRAS MAP2K1 MAP2K2 PTPN11 RAF1 SOS1

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 negative regulation of cell proliferation GO:0008285 9.96 HRAS IGFBP7 MAP2K1 NF1 RAF1
2 heart development GO:0007507 9.93 MAP2K1 NF1 PTPN11 RAF1
3 leukocyte migration GO:0050900 9.88 HRAS KRAS PTPN11 SOS1
4 axon guidance GO:0007411 9.88 HRAS KRAS PTPN11 SOS1
5 animal organ morphogenesis GO:0009887 9.83 BRAF HRAS JAG1
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.83 HRAS KRAS RAF1
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 BRAF HRAS MAP2K1 PTPN11 RAF1
8 activation of MAPK activity GO:0000187 9.82 MAP2K1 MAP2K2 PTPN11
9 visual learning GO:0008542 9.72 BRAF KRAS NF1
10 thymus development GO:0048538 9.71 BRAF MAP2K1 RAF1
11 ERBB2 signaling pathway GO:0038128 9.69 HRAS KRAS SOS1
12 negative regulation of cell-matrix adhesion GO:0001953 9.66 JAG1 NF1
13 regulation of synaptic transmission, GABAergic GO:0032228 9.64 KRAS NF1
14 placenta blood vessel development GO:0060674 9.64 MAP2K1 NR2F2
15 thyroid gland development GO:0030878 9.63 BRAF MAP2K1 RAF1
16 regulation of stress-activated MAPK cascade GO:0032872 9.62 MAP2K1 MAP2K2
17 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.62 MAP2K1 MAP2K2
18 Ras protein signal transduction GO:0007265 9.62 HRAS KRAS NF1 SOS1
19 Bergmann glial cell differentiation GO:0060020 9.61 MAP2K1 PTPN11
20 regulation of early endosome to late endosome transport GO:2000641 9.61 MAP2K1 MAP2K2
21 regulation of axon regeneration GO:0048679 9.6 BRAF MAP2K1
22 response to isolation stress GO:0035900 9.59 HRAS KRAS
23 regulation of long-term neuronal synaptic plasticity GO:0048169 9.58 HRAS KRAS NF1
24 proteolysis in other organism GO:0035897 9.57 MAP2K1 MAP2K2
25 face development GO:0060324 9.54 BRAF MAP2K1 RAF1
26 regulation of Golgi inheritance GO:0090170 9.52 MAP2K1 MAP2K2
27 cerebellar cortex formation GO:0021697 9.49 MAP2K1 PTPN11
28 forebrain astrocyte development GO:0021897 9.48 KRAS NF1
29 somatic stem cell population maintenance GO:0035019 9.46 BRAF POLR2B RAF1 ZIC3
30 neurotrophin TRK receptor signaling pathway GO:0048011 9.43 PTPN11 RAF1 SOS1
31 epidermal growth factor receptor signaling pathway GO:0007173 9.26 HRAS KRAS PTPN11 SOS1
32 MAPK cascade GO:0000165 9.23 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
33 signal transduction GO:0007165 10.23 BRAF HRAS KRAS MAP2K1 NF1 NR2F2

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

# Name GO ID Score Top Affiliating Genes
1 Ras GTPase binding GO:0017016 9.16 BRAF RAF1
2 nucleotide binding GO:0000166 9.1 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
3 MAP kinase kinase activity GO:0004708 8.96 MAP2K1 MAP2K2

Sources for Pulmonic Stenosis

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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