MCID: PLM070
MIFTS: 58

Pulmonic Stenosis

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Pulmonic Stenosis

MalaCards integrated aliases for Pulmonic Stenosis:

Name: Pulmonic Stenosis 57 19 75 28 5
Congenital Stenosis of Pulmonary Valve 58 33
Congenital Pulmonary Valvar Stenosis 58 33
Valvular Pulmonic Stenosis 19 5
Congenital Pulmonary Valve Stricture 33
Congenital Pulmonary Valve Stenosis 33
Pulmonary Valve Stenosis 71
Pulmonary Stenosis 71

Characteristics:


Inheritance:

Pulmonic Stenosis: ? Autosomal recessive more likely multifactorial 57
Congenital Pulmonary Valvar Stenosis: Multigenic/multifactorial 58

Prevelance:

Congenital Pulmonary Valvar Stenosis: 1-5/10000 (France, Austria, Belgium, Croatia, Denmark, Italy, Malta, Norway, Poland, Portugal, Spain, United Kingdom, Ukraine, Europe) 6-9/10000 (Germany, Hungary, Switzerland) 1-9/100000 (Ireland, Netherlands) 58

Age Of Onset:

Congenital Pulmonary Valvar Stenosis: Childhood,Infancy,Neonatal 58

Classifications:

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


External Ids:

OMIM® 57 265500
ICD10 31 Q22.1
MESH via Orphanet 44 D011666
ICD10 via Orphanet 32 Q22.1
UMLS via Orphanet 72 C0162164
Orphanet 58 ORPHA3189
MedGen 40 C1956257
ICD11 33 353180069
UMLS 71 C0034089 C1956257

Summaries for Pulmonic Stenosis

Orphanet: 58 A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).

MalaCards based summary: Pulmonic Stenosis, also known as congenital stenosis of pulmonary valve, is related to ventricular septal defect and double outlet right ventricle. An important gene associated with Pulmonic Stenosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Disease and ERK Signaling. The drugs Pharmaceutical Solutions and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are laryngeal stenosis and atrial septal defect

GARD: 19 Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets.

Wikipedia: 75 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 274)
# Related Disease Score Top Affiliating Genes
1 ventricular septal defect 30.6 ZIC3 NR2F2 JAG1 GATA5 BRAF
2 double outlet right ventricle 30.5 ZIC3 NR2F2 JAG1 GATA5
3 cardiofaciocutaneous syndrome 1 30.5 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
4 heart septal defect 30.4 ZIC3 SOS1 PTPN11 JAG1 GATA5
5 legius syndrome 30.2 NF1 HRAS
6 noonan syndrome with multiple lentigines 30.2 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
7 costello syndrome 30.1 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
8 atrioventricular septal defect 30.1 ZIC3 NR2F2 GATA5
9 atrial heart septal defect 30.1 ZIC3 SOS1 PTPN11 JAG1 GATA5
10 patent foramen ovale 30.0 ZIC3 SOS1 PTPN11 JAG1 GATA5
11 patent ductus arteriosus 1 30.0 ZIC3 SOS1 PTPN11 JAG1 GATA5
12 hydrops fetalis, nonimmune 30.0 PTPN11 KRAS HRAS
13 tetralogy of fallot 29.8 ZIC3 SOS1 PTPN11 NR2F2 JAG1 GATA5
14 pulmonary valve stenosis 29.7 ZIC3 SOS1 PTPN11 MAP2K2 MAP2K1 JAG1
15 noonan syndrome 1 29.6 ZIC3 SOS1 RAF1 PTPN11 NF1 MAP2K2
16 neurofibromatosis 29.2 SOS1 PTPN11 NF1 KRAS HRAS BRAF
17 neurofibromatosis-noonan syndrome 29.1 SOS1 PTPN11 NF1 MAP2K2 MAP2K1 HRAS
18 neurofibromatosis, type i 28.8 SOS1 RAF1 PTPN11 NF1 MAP2K1 KRAS
19 hypertrophic cardiomyopathy 28.7 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
20 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 11.9
21 watson syndrome 11.6
22 pulmonary subvalvular stenosis 11.5
23 keutel syndrome 11.4
24 alagille syndrome 1 11.3
25 long-thumb brachydactyly syndrome 11.3
26 leopard syndrome 1 11.3
27 mcdonough syndrome 11.3
28 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 11.2
29 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 11.2
30 pulmonic stenosis and deafness 11.2
31 pulmonic stenosis and congenital nephrosis 11.2
32 deafness, congenital heart defects, and posterior embryotoxon 11.1
33 heterotaxy, visceral, 1, x-linked 11.1
34 leopard syndrome 2 11.1
35 leopard syndrome 3 11.1
36 cardiofaciocutaneous syndrome 2 11.1
37 cardiofaciocutaneous syndrome 3 11.1
38 cardiofaciocutaneous syndrome 4 11.1
39 congenital heart defects, multiple types, 4 11.1
40 congenital heart defects, multiple types, 5 11.1
41 conotruncal heart malformations 10.4
42 congestive heart failure 10.4
43 interatrial communication 10.4
44 transposition of the great arteries, dextro-looped 10.3
45 atypical coarctation of aorta 10.3 NF1 JAG1
46 aortic valve disease 2 10.3
47 spitz nevus 10.3 HRAS BRAF
48 pilocytic astrocytoma of cerebellum 10.3 NF1 BRAF
49 conjunctival nevus 10.3 NF1 HRAS
50 trachea carcinoma in situ 10.3 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 30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngeal stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001602
2 atrial septal defect 58 30 Frequent (33%) Frequent (79-30%)
HP:0001631
3 malformation of the heart and great vessels 58 Occasional (29-5%)
4 pulmonic stenosis 30 HP:0001642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiac:
pulmonic stenosis

Clinical features from OMIM®:

265500 (Updated 08-Dec-2022)

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

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.66 NF1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.66 NF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 RAF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.66 SOS1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.66 SOS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.66 SOS1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.66 BRAF NF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.66 RAF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.66 RAF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.66 SOS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.66 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.66 NF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.66 NF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.66 BRAF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.66 RAF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.66 SOS1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.66 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.66 RAF1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.66 NF1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.66 PTPN11
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.66 SOS1
22 shRNA abundance <= 50% GR00343-S 9.56 KRAS MAP2K1 NF1 NR2F2 PTPN11 RAF1
23 Increased cell migration GR00055-A-1 9.46 NF1
24 Increased cell migration GR00055-A-3 9.46 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 10.38 BRAF HRAS IGFBP7 JAG1 KRAS MAP2K1
2 homeostasis/metabolism MP:0005376 10.37 BRAF GATA5 HRAS JAG1 KRAS MAP2K1
3 endocrine/exocrine gland MP:0005379 10.37 BRAF GATA5 HRAS IGFBP7 JAG1 KRAS
4 nervous system MP:0003631 10.36 BRAF HRAS JAG1 KRAS MAP2K1 NF1
5 normal MP:0002873 10.3 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
6 muscle MP:0005369 10.27 BRAF GATA5 HRAS JAG1 KRAS NF1
7 digestive/alimentary MP:0005381 10.27 BRAF GATA5 HRAS JAG1 KRAS MAP2K1
8 cellular MP:0005384 10.27 BRAF GATA5 IGFBP7 JAG1 KRAS MAP2K1
9 craniofacial MP:0005382 10.26 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
10 cardiovascular system MP:0005385 10.25 BRAF GATA5 HRAS JAG1 KRAS MAP2K1
11 neoplasm MP:0002006 10.21 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
12 embryo MP:0005380 10.21 BRAF JAG1 KRAS MAP2K1 NF1 NR2F2
13 hearing/vestibular/ear MP:0005377 10.2 BRAF JAG1 KRAS MAP2K1 MAP2K2 NF1
14 behavior/neurological MP:0005386 10.18 BRAF GATA5 HRAS JAG1 KRAS MAP2K1
15 no phenotypic analysis MP:0003012 10.14 HRAS IGFBP7 JAG1 KRAS NR2F2 PTPN11
16 liver/biliary system MP:0005370 10.11 BRAF JAG1 KRAS NF1 PTPN11 RAF1
17 skeleton MP:0005390 10.07 BRAF GATA5 HRAS JAG1 KRAS MAP2K1
18 reproductive system MP:0005389 10.06 BRAF GATA5 IGFBP7 KRAS MAP2K1 MAP2K2
19 pigmentation MP:0001186 10.01 BRAF KRAS NF1 NR2F2 PTPN11
20 vision/eye MP:0005391 9.93 BRAF JAG1 KRAS MAP2K1 MAP2K2 NF1
21 respiratory system MP:0005388 9.91 BRAF HRAS KRAS NF1 PTPN11 RAF1
22 mortality/aging MP:0010768 9.8 BRAF GATA5 HRAS JAG1 KRAS MAP2K1
23 integument MP:0010771 9.4 BRAF GATA5 HRAS IGFBP7 JAG1 KRAS

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2
Parathyroid hormone Approved, Investigational 9002-64-6
3
Sodium citrate Approved, Investigational 68-04-2 23431961
4
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
5
Tannic acid Approved 1401-55-4 16129878 16129778
6
Ketamine Approved, Vet_approved 6740-88-1, 1867-66-9 3821
7
Sevoflurane Approved, Vet_approved 28523-86-6 5206
8
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
9 Hormones
10 Calcium, Dietary
11 Anticoagulants
12 Citrate
13 Chelating Agents
14 Anesthetics
15
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Active, not recruiting NCT04017975 Phase 2 Fluorescite
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
4 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
5 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 Completed NCT02555319
6 Follow Up on Freestyle Valves for Right Ventricular Outflow Tract Reconstruction in Children Completed NCT00385112
7 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
8 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
9 Right Ventricle REmodeling After Pulmonary vAlve Replacement and Percutaneous Pulmonary Valve InseRtion, a Functional and Histopathological Assessment Completed NCT05090228
10 Implantation of the SAPIEN Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT00676689
11 Pulmonary Arteriopathy; Evaluation of Invasive Treatments of Peripheral Pulmonary Stenosis in Terms of Right Ventricular Function and Patient Exercise Tolerance Completed NCT00266175
12 Implantation of the SAPIEN™ Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT01356108
13 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
14 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
15 New Enrollment SAPIEN XT Post-Approval Study Active, not recruiting NCT02987387
16 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
17 The PULSTA Transcatheter Pulmonary Valve (TPV) Pre-Approval Study Active, not recruiting NCT03983512
18 Evaluation of the GORE PV1 Device for Replacement of the Pulmonary Valve and Reconstruction of Right Ventricular Outflow Tract Active, not recruiting NCT03441971
19 Effect of Ketamine Versus Sevoflurane On The Right Ventricular Pressure During Congenital Pulmonary Stenosis Balloon Dilatation Not yet recruiting NCT05582213
20 Role of Echocardiography in the Assessment of Right Ventricular Function in the Pediatric Population With Valvular Pulmonary Stenosis After Percutaneous Balloon Pulmonary Valvuoplasty. Not yet recruiting NCT04960085
21 MASA Valve Early Feasibility Study Not yet recruiting NCT05452720
22 Clinical Management of Children With Mild Valvar Pulmonary Stenosis Terminated NCT00277927

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 28

Anatomical Context for Pulmonic Stenosis

Organs/tissues related to Pulmonic Stenosis:

MalaCards : Heart, Lung, Liver, Skin

Publications for Pulmonic Stenosis

Articles related to Pulmonic Stenosis:

(show top 50) (show all 890)
# Title Authors PMID Year
1
Familial congenital valvular pulmonic stenosis. 62 57
4852014 1974
2
A family with congenital pulmonary valve stenosis. 62 57
4847731 1974
3
Hereditary dysplasia of the pulmonary valve in beagle dogs. Pathologic and genetic studies. 57
7468498 1981
4
Familial pulmonary stenosis with underdeveloped or normal right ventricle. 57
1111560 1975
5
Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1188 cases. 57
13410899 1957
6
[Congenital pulmonary stenosis in two sisters]. 57
12987021 1952
7
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. 62
36209351 2022
8
Pembrolizumab Improves Survival After Resection of Intracardiac Metastatic Cervical Carcinoma. 62
35090858 2022
9
Pulmonary artery dissection following pulmonary balloon valvuloplasty in dogs. 62
36370467 2022
10
Accuracy of physical examination of cardiovascular system in the diagnosis of common congenital heart diseases in children. 62
36053582 2022
11
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation. 62
35373511 2022
12
Outcome and right ventricle remodelling after valve replacement for pulmonic stenosis. 62
34815333 2022
13
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease. 62
35464689 2022
14
Right ventricular outflow tract anomalies: Neonatal interventions and outcomes. 62
35422353 2022
15
Effect of preoperative administration of atenolol to dogs with pulmonic stenosis undergoing interventional procedures. 62
35302255 2022
16
Acquired cyanosis secondary to RVOT obstruction due to pacemaker lead prolapse and vegetation in a child with ASD. 62
35911071 2022
17
Acute pulmonary edema in a dog with severe pulmonary valve stenosis: A rare complication after balloon valvuloplasty. 62
34861639 2022
18
Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates. 62
34519236 2022
19
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response. 62
34655156 2022
20
Right axis deviation in the canine electrocardiogram for predicting severity of pulmonic stenosis: a retrospective cohort analysis. 62
35038304 2022
21
Cardiac Disease in Pregnancy: Hypertrophic Obstructive Cardiomyopathy and Pulmonic Stenosis. 62
33926782 2021
22
Transvalvular pulmonic stent angioplasty: procedural outcomes and complications in 15 dogs with pulmonic stenosis. 62
34653742 2021
23
Red blood cell abnormalities occur in dogs with congenital ventricular outflow tract obstruction. 62
34936577 2021
24
Type B valvular and supravalvular pulmonic stenosis with aberrant pre-pulmonic right coronary artery diagnosed by non-electrocardiography-gated, multislice computed tomography in a Boston terrier. 62
34689048 2021
25
Sub-pulmonic stenosis caused by a right ventricular outflow tract vegetation in a children with restricted ventricular septal defect. 62
33755205 2021
26
Outcomes of percutaneous balloon pulmonary valvuloplasty in congenital pulmonary valve stenosis. 62
34484754 2021
27
Immediate outcomes of low-pressure balloon valvuloplasty for severe pulmonary valve stenosis in 20 dogs: a retrospective, single-center case series. 62
34144361 2021
28
Williams Syndrome With Rare Ureteric Abnormality. 62
34540437 2021
29
Identification and Clinical Significance of Heart Murmurs in Puppies Involved in Puppy Trade. 62
34437461 2021
30
Balloon valvuloplasty in 2 juvenile alpacas with severe valvular pulmonic stenosis. 62
34101907 2021
31
Coronary arterial compression testing by simultaneous balloon valvuloplasty and coronary angiography in an English bulldog with pulmonary valve stenosis. 62
33951596 2021
32
Valvular heart disease in congenital heart disease: a narrative review. 62
34295708 2021
33
Congenital Heart Disease in Dogs: A Retrospective Study of 95 Cases. 62
33346164 2021
34
Transcatheter pulmonic valve implantation: Techniques, current roles, and future implications. 62
34131475 2021
35
Senning With Aortic Translocation and Anatomic Repair for Congenitally Corrected Transposition. 62
33045205 2021
36
Outcomes 60 years after surgical valvotomy for isolated congenital pulmonary valve stenosis. 62
33522622 2021
37
Biventricular Pulsus Alternans in a Dog with Pulmonic Stenosis and Sepsis. 62
33937597 2021
38
Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography. 62
33590497 2021
39
Immediate results of balloon valvuloplasty in congenital pulmonary valve stenosis. 62
33899201 2021
40
Transoesophageal echocardiography-guided hybrid balloon valvuloplasty for severe pulmonic stenosis in small dogs. 62
33567831 2021
41
Expression Profile of Circulating MicroRNAs in Dogs With Cardiac Hypertrophy: A Pilot Study. 62
33898546 2021
42
Identification and Characterization of Circulating MicroRNAs as Novel Biomarkers in Dogs With Heart Diseases. 62
34708100 2021
43
Circulating Galectin-3 Evaluation in Dogs With Cardiac and Non-cardiac Diseases. 62
34722704 2021
44
Imperforate cor triatriatum dexter with patent foramen ovale and pulmonic stenosis in three dogs: Diagnostic findings and attempted surgical correction. 62
33186877 2020
45
A novel hybrid stent technique to treat canine pulmonic stenosis. 62
33031996 2020
46
Imaging characteristics and associations in twisted atrioventricular connections on multidetector computed tomography angiography. 62
33111443 2020
47
Rare Case of Coincident Quadricuspid Pulmonic Valve and Suprapulmonic Ridge: Multimodality Imaging. 62
34317137 2020
48
Left ventricular systolic function in dogs with pulmonic stenosis. 62
33363338 2020
49
The variety of phenotypes behind 'double outlet right ventricle': clinical and imaging presentations in four dogs and a cat. 62
32980747 2020
50
Familial Retinal Arterial Macroaneurysms with Peripheral Retinal Ischemia: A Characterization on Ultra-Widefield Fluorescein Angiography. 62
33814820 2020

Variations for Pulmonic Stenosis

ClinVar genetic disease variations for Pulmonic Stenosis:

5 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 78 genes DEL Pathogenic
1684631 GRCh37:
GRCh38: 18:69541066-80373285
2 SOS1 NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic
40672 rs397517148 GRCh37: 2:39250269-39250269
GRCh38: 2:39023128-39023128
3 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic
598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
4 ZNF526 NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) SNV Likely Pathogenic
183288 rs730882205 GRCh37: 19:42729034-42729034
GRCh38: 19:42224882-42224882
5 BRAF NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) SNV Likely Pathogenic
13978 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
6 MYH11 NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) SNV Uncertain Significance
492839 rs1555554139 GRCh37: 16:15820835-15820835
GRCh38: 16:15726978-15726978
7 CACNA1C NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) SNV Uncertain Significance
190707 rs369483452 GRCh37: 12:2224416-2224416
GRCh38: 12:2115250-2115250
8 GATA4 NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) SNV Uncertain Significance
9034 rs56208331 GRCh37: 8:11615928-11615928
GRCh38: 8:11758419-11758419
9 ARID1A NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup) MICROSAT Uncertain Significance
992765 rs2080258350 GRCh37: 1:27023162-27023163
GRCh38: 1:26696671-26696672
10 SOX3 NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) DUP Uncertain Significance
95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
11 HRAS, LRRC56 NM_005343.4(HRAS):c.277A>G (p.Ile93Val) SNV Likely Benign
40439 rs587782949 GRCh37: 11:533779-533779
GRCh38: 11:533779-533779

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
13.92 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
2
Show member pathways
13.9 SOS1 RAF1 NF1 MAP2K2 MAP2K1 KRAS
3 13.9 SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
4
Show member pathways
13.78 ZIC3 SOS1 PTPN11 NR2F2 MAP2K2 MAP2K1
5
Show member pathways
13.75 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
6
Show member pathways
13.68 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
7
Show member pathways
13.65 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
8
Show member pathways
13.62 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
9
Show member pathways
13.61 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10
Show member pathways
13.52 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
11
Show member pathways
13.5 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
12
Show member pathways
13.4 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
13
Show member pathways
13.39 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
14
Show member pathways
13.36 SOS1 RAF1 PTPN11 KRAS HRAS GATA5
15
Show member pathways
13.34 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
16
Show member pathways
13.22 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
17
Show member pathways
13.17 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
18
Show member pathways
13.09 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
19
Show member pathways
13.06 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
20
Show member pathways
13.06 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
21
Show member pathways
13.06 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
22
Show member pathways
13.04 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
23
Show member pathways
13.03 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
24
Show member pathways
13.02 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
25
Show member pathways
13.02 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
26
Show member pathways
13.01 SOS1 RAF1 MAP2K1 KRAS HRAS BRAF
27 13.01 SOS1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
28
Show member pathways
12.99 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
29
Show member pathways
12.98 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
30
Show member pathways
12.94 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
31
Show member pathways
12.91 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
32
Show member pathways
12.91 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
33
Show member pathways
12.87 SOS1 RAF1 NF1 MAP2K2 MAP2K1 KRAS
34
Show member pathways
12.86 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
35
Show member pathways
12.85 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
36
Show member pathways
12.84 SOS1 RAF1 MAP2K2 MAP2K1 KRAS BRAF
37
Show member pathways
12.84 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
38
Show member pathways
12.84 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
39
Show member pathways
12.84 BRAF GATA5 HRAS KRAS MAP2K1 MAP2K2
40
Show member pathways
12.83 RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
41 12.82 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
42
Show member pathways
12.81 SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
43
Show member pathways
12.78 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
44
Show member pathways
12.75 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
45
Show member pathways
12.75 SOS1 RAF1 MAP2K2 MAP2K1 HRAS
46
Show member pathways
12.74 SOS1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
47
Show member pathways
12.73 SOS1 PTPN11 KRAS HRAS BRAF
48
Show member pathways
12.71 HRAS MAP2K1 MAP2K2 PTPN11 RAF1 SOS1
49
Show member pathways
12.7 SOS1 RAF1 NF1 MAP2K2 MAP2K1 BRAF
50
Show member pathways
12.68 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1

GO Terms for Pulmonic Stenosis

Cellular components related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTPase complex GO:1905360 8.92 SOS1 HRAS

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.26 MAP2K2 MAP2K1 KRAS HRAS GATA5 BRAF
2 positive regulation of MAPK cascade GO:0043410 10.14 HRAS MAP2K1 MAP2K2 RAF1
3 regulation of cell population proliferation GO:0042127 10.13 SOS1 NF1 JAG1 HRAS BRAF
4 Ras protein signal transduction GO:0007265 10.11 SOS1 NF1 KRAS HRAS
5 heart development GO:0007507 10.1 ZIC3 PTPN11 NF1 MAP2K2 MAP2K1 GATA5
6 ERK1 and ERK2 cascade GO:0070371 10.09 MAP2K2 MAP2K1 BRAF
7 visual learning GO:0008542 10.07 NF1 KRAS BRAF
8 epidermal growth factor receptor signaling pathway GO:0007173 10.06 SOS1 PTPN11 BRAF
9 thymus development GO:0048538 10.03 BRAF MAP2K1 MAP2K2 RAF1
10 positive regulation of axonogenesis GO:0050772 10.02 MAP2K2 MAP2K1 BRAF
11 regulation of long-term neuronal synaptic plasticity GO:0048169 9.97 HRAS KRAS NF1
12 neurotrophin TRK receptor signaling pathway GO:0048011 9.93 SOS1 RAF1 PTPN11
13 regulation of early endosome to late endosome transport GO:2000641 9.92 MAP2K2 MAP2K1
14 thyroid gland development GO:0030878 9.92 BRAF MAP2K1 MAP2K2 RAF1
15 trachea formation GO:0060440 9.91 MAP2K2 MAP2K1
16 epithelial cell proliferation involved in lung morphogenesis GO:0060502 9.88 MAP2K1 MAP2K2
17 regulation of Golgi inheritance GO:0090170 9.87 MAP2K1 MAP2K2
18 cerebellar cortex formation GO:0021697 9.84 PTPN11 MAP2K1
19 forebrain astrocyte development GO:0021897 9.83 NF1 KRAS
20 insulin receptor signaling pathway GO:0008286 9.8 SOS1 RAF1 HRAS
21 MAPK cascade GO:0000165 9.8 RAF1 NF1 MAP2K2 MAP2K1 KRAS HRAS
22 regulation of axon regeneration GO:0048679 9.77 MAP2K2 MAP2K1 BRAF
23 positive regulation of protein serine/threonine kinase activity GO:0071902 9.7 SOS1 RAF1 MAP2K2 MAP2K1 KRAS
24 positive regulation of miRNA maturation GO:1903800 9.61 MAP2K2 MAP2K1
25 insulin-like growth factor receptor signaling pathway GO:0048009 9.56 SOS1 RAF1 MAP2K2 MAP2K1
26 face development GO:0060324 9.32 ZIC3 RAF1 MAP2K2 MAP2K1 BRAF

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

# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 9.63 MAP2K2 MAP2K1 BRAF
2 MAP kinase kinase activity GO:0004708 9.43 MAP2K2 MAP2K1 BRAF
3 protein serine/threonine kinase activator activity GO:0043539 9.23 SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS

Sources for Pulmonic Stenosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....