MCID: PLM070
MIFTS: 49

Pulmonic Stenosis

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonic Stenosis

MalaCards integrated aliases for Pulmonic Stenosis:

Name: Pulmonic Stenosis 57 73 20 29 6
Congenital Stenosis of Pulmonary Valve 58
Congenital Pulmonary Valvar Stenosis 58
Valvular Pulmonic Stenosis 20
Pulmonary Valve Stenosis 70
Pulmonary Stenosis 70

Characteristics:

Orphanet epidemiological data:

58
congenital pulmonary valvar 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 (Updated 05-Apr-2021)
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® 57 265500
ICD10 32 Q22.1
MESH via Orphanet 45 D011666
ICD10 via Orphanet 33 Q22.1
UMLS via Orphanet 71 C0162164
Orphanet 58 ORPHA3189
MedGen 41 C1956257
UMLS 70 C0034089 C1956257

Summaries for Pulmonic Stenosis

MalaCards based summary : Pulmonic Stenosis, also known as congenital stenosis of pulmonary valve, is related to cardiofaciocutaneous syndrome 1 and noonan syndrome with multiple lentigines. An important gene associated with Pulmonic Stenosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are MAPK signaling pathway and Gastric cancer. The drugs Pharmaceutical Solutions and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are laryngeal stenosis and atrial septal defect

Wikipedia : 73 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 128)
# Related Disease Score Top Affiliating Genes
1 cardiofaciocutaneous syndrome 1 31.5 SOS1 NF1 BRAF
2 noonan syndrome with multiple lentigines 31.3 SOS1 NF1 BRAF
3 costello syndrome 31.2 SOS1 NF1 BRAF
4 noonan syndrome 1 31.0 SOS1 NF1 BRAF
5 heart septal defect 30.8 SOS1 JAG1
6 patent ductus arteriosus 1 30.4 SOS1 JAG1
7 pulmonary valve stenosis 28.7 ZNF526 TMCO1 SOS1 JAG1 BRAF
8 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 11.9
9 watson syndrome 11.6
10 keutel syndrome 11.4
11 pulmonary subvalvular stenosis 11.4
12 alagille syndrome 1 11.3
13 leopard syndrome 1 11.2
14 heterotaxy, visceral, 1, x-linked 11.2
15 prune belly syndrome with pulmonic stenosis, mental retardation, and deafness 11.2
16 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 11.1
17 pulmonic stenosis and deafness 11.1
18 pulmonic stenosis and congenital nephrosis 11.1
19 deafness, congenital heart defects, and posterior embryotoxon 11.1
20 ritscher-schinzel syndrome 1 11.1
21 mcdonough syndrome 11.1
22 leopard syndrome 2 11.1
23 leopard syndrome 3 11.1
24 cardiofaciocutaneous syndrome 2 11.1
25 cardiofaciocutaneous syndrome 3 11.1
26 cardiofaciocutaneous syndrome 4 11.1
27 congenital heart defects, multiple types, 4 11.1
28 congenital heart defects, multiple types, 5 11.1
29 ventricular septal defect 10.6
30 tetralogy of fallot 10.5
31 patent foramen ovale 10.4
32 atrial heart septal defect 10.4
33 double outlet right ventricle 10.4
34 congestive heart failure 10.4
35 pulmonary hypertension 10.3
36 heart disease 10.2
37 tricuspid valve insufficiency 10.2
38 double discordia 10.2
39 syncope 10.2
40 dextro-looped transposition of the great arteries 10.2
41 pulmonary valve insufficiency 10.2
42 teratoma 10.2
43 anencephaly 10.1
44 pre-eclampsia 10.1
45 hydrocephalus 10.1
46 eclampsia 10.1
47 infective endocarditis 10.1
48 cardiac arrest 10.1
49 endocarditis 10.1
50 sarcoma 10.1

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®:

57 (Updated 05-Apr-2021)
Cardiac:
pulmonic stenosis

Clinical features from OMIM®:

265500 (Updated 05-Apr-2021)

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.47 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 9.47 BRAF
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.47 SOS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.47 SOS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 9.47 BRAF
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.47 BRAF
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 9.47 BRAF
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.47 SOS1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.47 BRAF
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 9.47 BRAF
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-32 9.47 BRAF
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.47 SOS1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.47 BRAF
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 9.47 NF1
15 Decreased cell migration GR00055-A-1 9.26 SOS1
16 Decreased cell migration GR00055-A-3 9.26 BRAF

MGI Mouse Phenotypes related to Pulmonic Stenosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 BRAF JAG1 NF1 SOS1 TMCO1
2 embryo MP:0005380 9.65 BRAF JAG1 NF1 SOS1 TMCO1
3 endocrine/exocrine gland MP:0005379 9.55 BRAF IGFBP7 JAG1 NF1 SOS1
4 integument MP:0010771 9.35 BRAF IGFBP7 JAG1 NF1 SOS1
5 vision/eye MP:0005391 9.02 BRAF JAG1 NF1 SOS1 TMCO1

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2
Sodium citrate Approved, Investigational 68-04-2
3
Parathyroid hormone Approved, Investigational 9002-64-6
4
tannic acid Approved 1401-55-4
5
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
6
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
7 Citrate
8 Chelating Agents
9 Anticoagulants
10 Hormones
11 Calcium, Dietary
12 Anesthetics
13
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) 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 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
5 Pulmonary Arteriopathy; Evaluation of Invasive Treatments of Peripheral Pulmonary Stenosis in Terms of Right Ventricular Function and Patient Exercise Tolerance Completed NCT00266175
6 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
7 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
8 Follow Up on Freestyle Valves for Right Ventricular Outflow Tract Reconstruction in Children Completed NCT00385112
9 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
10 Implantation of the SAPIEN Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT00676689
11 Implantation of the SAPIEN™ Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT01356108
12 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
13 The PULSTA Transcatheter Pulmonary Valve (TPV) Pre-Approval Study Recruiting NCT03983512
14 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
15 New Enrollment SAPIEN XT Post-Approval Study Active, not recruiting NCT02987387
16 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
17 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
18 Clinical Management of Children With Mild Valvar Pulmonary Stenosis Terminated NCT00277927

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Alprostadil

Genetic Tests for Pulmonic Stenosis

Genetic tests related to Pulmonic Stenosis:

# Genetic test Affiliating Genes
1 Pulmonic Stenosis (disease) 29

Anatomical Context for Pulmonic Stenosis

MalaCards organs/tissues related to Pulmonic Stenosis:

40
Heart, Liver, Lung, Skin

Publications for Pulmonic Stenosis

Articles related to Pulmonic Stenosis:

(show top 50) (show all 788)
# Title Authors PMID Year
1
Familial congenital valvular pulmonic stenosis. 57 61
4852014 1974
2
Hereditary dysplasia of the pulmonary valve in beagle dogs. Pathologic and genetic studies. 57
7468498 1981
3
Familial pulmonary stenosis with underdeveloped or normal right ventricle. 57
1111560 1975
4
A family with congenital pulmonary valve stenosis. 57
4847731 1974
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
Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography. 61
33590497 2021
8
Sub-pulmonic stenosis caused by a right ventricular outflow tract vegetation in a children with restricted ventricular septal defect. 61
33755205 2021
9
Transoesophageal echocardiography-guided hybrid balloon valvuloplasty for severe pulmonic stenosis in small dogs. 61
33567831 2021
10
A novel hybrid stent technique to treat canine pulmonic stenosis. 61
33031996 2020
11
Imperforate cor triatriatum dexter with patent foramen ovale and pulmonic stenosis in three dogs: Diagnostic findings and attempted surgical correction. 61
33186877 2020
12
Congenital Heart Disease in Dogs: A Retrospective Study of 95 Cases. 61
33346164 2020
13
Imaging characteristics and associations in twisted atrioventricular connections on multidetector computed tomography angiography. 61
33111443 2020
14
Left ventricular systolic function in dogs with pulmonic stenosis. 61
33363338 2020
15
Learning from a case of right ventricular outflow tract stenting in tricuspid atresia with critical pulmonary stenosis. 61
32843116 2020
16
The variety of phenotypes behind 'double outlet right ventricle': clinical and imaging presentations in four dogs and a cat. 61
32980747 2020
17
Senning With Aortic Translocation and Anatomic Repair for Congenitally Corrected Transposition. 61
33045205 2020
18
Right ventricular outflow tract obstruction caused by a right coronary cusp prolapse: An unusual finding. 61
32574403 2020
19
Canine infantile left ventricular noncompaction. 61
32703195 2020
20
An unusual presentation of developmental anomalies of the cardiovascular system including tetralogy of fallot, double outlet right ventricle, patent foramen ovale and persistent right aortic arch in a Friesian calf. 61
32605568 2020
21
Transcatheter Tricuspid and Pulmonary Valve Repair and Replacement. 61
32379893 2020
22
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects. 61
32134193 2020
23
Outcomes after combined percutaneous balloon valvuloplasty and external beam radiation therapy for the treatment of congenital pulmonic stenosis in four dogs. 61
32086158 2020
24
Evaluation of the NuCLEUS-X™ balloon valvuloplasty catheter for severe pulmonic stenosis in dogs. 61
32163862 2020
25
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome. 61
31730227 2020
26
Left main coronary artery compression by the right pulmonary artery in a patient with congenital pulmonic stenosis. 61
31996858 2020
27
Peripheral pulmonic stenosis in SAPHO syndrome. 61
31711136 2020
28
Pregnancy Management in a Patient With Congenital Heart Disease and Severe Right Ventricle to Pulmonary Artery Conduit Stenosis. 61
33408586 2020
29
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
30
A Case of Asymptomatic Pulmonary Artery Aneurysm with Review of Management Strategies. 61
33110662 2020
31
Epidemiological study of congenital heart diseases in dogs: Prevalence, popularity, and volatility throughout twenty years of clinical practice. 61
32716943 2020
32
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
33
Patent ductus arteriosus and pulmonic stenosis in a dog: Treatment using an Amplatz canine duct occluder device with concurrent balloon valvuloplasty. 61
31692581 2019
34
Utility of 3D Printed Cardiac Models for Medical Student Education in Congenital Heart Disease: Across a Spectrum of Disease Severity. 61
31240370 2019
35
Breed does not affect the association between murmur intensity and disease severity in dogs with pulmonic or subaortic stenosis. 61
31032935 2019
36
Right ventricular and pulmonary vascular function indices for risk stratification of patients with pulmonary regurgitation. 61
30957982 2019
37
Assessment of Right Ventricular-Pulmonary Arterial Coupling in Chronic Pulmonary Regurgitation. 61
31292091 2019
38
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
39
Coronary Artery Disease in Adults With Coarctation of Aorta: Incidence, Risk Factors, and Outcomes. 61
31195876 2019
40
Stent angioplasty for treatment of canine valvular pulmonic stenosis. 61
30797444 2019
41
Congenital Cardiac Outflow Tract Abnormalities in Dogs: Prevalence and Pattern of Inheritance From 2008 to 2017. 61
30873420 2019
42
Management of the Adult Patient With Congenitally Corrected Transposition: Challenges and Uncertainties. 61
31027566 2019
43
Flow-related right ventricular to pulmonary arterial pressure gradients during exercise. 61
29878071 2019
44
Specific features and survival of French bulldogs with congenital pulmonic stenosis: a prospective cohort study of 66 cases. 61
30526956 2018
45
Causes and hemodynamic findings in chronic severe pulmonary regurgitation. 61
26104675 2018
46
Progressive right ventricular enlargement due to pulmonary regurgitation: Clinical characteristics of a "low-risk" group. 61
29793063 2018
47
Sudden death in patients with Ebstein anomaly. 61
29315367 2018
48
Congenitally Corrected Transposition of the Great Arteries in a Septuagenarian from the Developing Country of Pakistan. 61
30087813 2018
49
Evaluation and Management of Right-Sided Heart Failure: A Scientific Statement From the American Heart Association. 61
29650544 2018
50
Murmur intensity in adult dogs with pulmonic and subaortic stenosis reflects disease severity. 61
29023732 2018

Variations for Pulmonic Stenosis

ClinVar genetic disease variations for Pulmonic Stenosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 GRCh37: 2:39250269-39250269
GRCh38: 2:39023128-39023128
2 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
3 ZNF526 NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) SNV Likely pathogenic 183288 rs730882205 GRCh37: 19:42729034-42729034
GRCh38: 19:42224882-42224882
4 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) SNV Likely pathogenic 13978 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
5 MYH11 NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) SNV Uncertain significance 492839 rs1555554139 GRCh37: 16:15820835-15820835
GRCh38: 16:15726978-15726978
6 CACNA1C NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) SNV Uncertain significance 190707 rs369483452 GRCh37: 12:2224416-2224416
GRCh38: 12:2115250-2115250
7 GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) SNV Uncertain significance 9034 rs56208331 GRCh37: 8:11615928-11615928
GRCh38: 8:11758419-11758419
8 ARID1A NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup) Microsatellite Uncertain significance 992765 GRCh37: 1:27023162-27023163
GRCh38: 1:26696671-26696672
9 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
10 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 all 16)
# Super pathways Score Top Affiliating Genes
1 12.4 SOS1 NF1 BRAF
2
Show member pathways
12.39 SOS1 JAG1 BRAF
3
Show member pathways
12.36 SOS1 NF1 BRAF
4
Show member pathways
12.23 SOS1 NF1 BRAF
5
Show member pathways
12.06 SOS1 NF1 JAG1 BRAF
6
Show member pathways
11.97 SOS1 NF1 BRAF
7 11.55 SOS1 NF1 BRAF
8 11.48 SOS1 NF1 BRAF
9 11.34 SOS1 BRAF
10 11.24 SOS1 BRAF
11
Show member pathways
11.17 NF1 BRAF
12 11.11 SOS1 BRAF
13 10.98 SOS1 BRAF
14 10.8 SOS1 BRAF
15 10.79 SOS1 NF1 BRAF
16 9.23 SOS1 NF1

GO Terms for Pulmonic Stenosis

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

# Name GO ID Score Top Affiliating Genes
1 Ras protein signal transduction GO:0007265 9.32 SOS1 NF1
2 epidermal growth factor receptor signaling pathway GO:0007173 9.26 SOS1 BRAF
3 cell communication GO:0007154 9.16 NF1 JAG1
4 visual learning GO:0008542 8.96 NF1 BRAF
5 MAPK cascade GO:0000165 8.8 SOS1 NF1 BRAF

Sources for Pulmonic Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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