MCID: PLM070
MIFTS: 59

Pulmonic Stenosis malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Pulmonic Stenosis

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 25GTR, 66UMLS, 52Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 28ICD10
See all MalaCards sources

Aliases & Descriptions for Pulmonic Stenosis:

Name: Pulmonic Stenosis 50 46 25
Congenital Pulmonary Valve Stenosis 52
Valvular Pulmonic Stenosis 46
 
Pulmonary Valve Stenosis 66
Pulmonary Stenosis 66

Characteristics:

Orphanet epidemiological data:

52
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

Classifications:



External Ids:

OMIM50 265500
Orphanet52 ORPHA3189
UMLS via Orphanet67 C0162164
ICD10 via Orphanet29 Q22.1
MESH via Orphanet38 D011666
ICD1028 Q22.1

Summaries for Pulmonic Stenosis

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Wikipedia:69 Pulmonic stenosis, also known as pulmonary stenosis, is a dynamic or fixed obstruction of flow from the... more...

MalaCards based summary: Pulmonic Stenosis, also known as congenital pulmonary valve stenosis, is related to leopard syndrome 1 and retinal arterial macroaneurysm with supravalvular pulmonic stenosis, and has symptoms including abnormality of the pulmonary artery, atria septal defect and pulmonic stenosis. An important gene associated with Pulmonic Stenosis is NF1 (Neurofibromin 1), and among its related pathways are Development_Leptin signaling via JAK/STAT and MAPK cascades and Nongenotropic Androgen signaling. The drug alprostadil has been mentioned in the context of this disorder. Affiliated tissues include heart, b cells and liver, and related mouse phenotypes are pigmentation and liver/biliary system.

Description from OMIM:50 265500

Related Diseases for Pulmonic Stenosis

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

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 127.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
2retinal arterial macroaneurysm with supravalvular pulmonic stenosis12.4
3watson syndrome11.7
4keutel syndrome11.3
5pulmonary subvalvular stenosis11.3
6leopard syndrome11.1
7pleomorphic xanthoastrocytoma10.7BRAF, NF1
8gliofibroma10.7BRAF, NF1
9split hand split foot malformation autosomal recessive10.5BRAF, HRAS
10ventricular septal defect10.4
11otosclerosis 110.4MIR1469, NR2F2
12otof-related deafness10.4BRAF, PTPN11, RAF1
13tetralogy of fallot10.3
14growth hormone insensitivity with immunodeficiency10.3MAP2K2, NF1, PTPN11
15pulmonary valve stenosis10.3
16pulmonary venoocclusive disease10.3BRAF, KRAS
17mediastinitis10.2
18aneurysm10.2
19sexual masochism10.2KRAS, RAF1
20neonatal stroke10.2HRAS, NF1, PTPN11
21cardiofaciocutaneous syndrome10.2
22heterotaxy, visceral, 1, x-linked10.2
23brachial plexus neuritis10.2KRAS, RAF1
24pulmonary hypertension10.2
25heart disease10.2
26patent ductus arteriosus10.2
27vagina sarcoma10.2HRAS, KRAS
28bladder benign neoplasm10.1KRAS, RAF1
29glomerulosclerosis10.1HRAS, KRAS
30congenital heart disease10.1
31gonococcal spondylitis10.1HRAS, KRAS
32epidermal nevus, somatic10.1HRAS, KRAS
33schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.1HRAS, KRAS
34myxosarcoma10.1HRAS, KRAS
35congestive heart failure10.1
36patent foramen ovale10.1
37leopard syndrome 210.1
38leopard syndrome 310.1
39costello syndrome10.1
40cardiofaciocutaneous syndrome 210.1
41noonan syndrome 110.1
42cardiofaciocutaneous syndrome 310.1
43congenital heart defects, multiple types, 410.1
44left ventricular noncompaction 1, with or without congenital heart defects10.1
45cardiofaciocutaneous syndrome 410.1
46seminal vesicle chronic gonorrhea10.0HRAS, KRAS
47ureter adenocarcinoma10.0HRAS, KRAS
48dhdds-cdg10.0MIR1469, NR2F2, ZIC3
49giant cell glioblastoma10.0KRAS, NF1, PTPN11
50mediastinum teratoma10.0BRAF, KRAS

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



Diseases related to pulmonic stenosis

Symptoms for Pulmonic Stenosis

About this section

Symptoms by clinical synopsis from OMIM:

265500

Clinical features from OMIM:

265500

Symptoms:

 52
  • laryngeal stenosis
  • defect in the atrial septum
  • malformation of the heart and great vessels

HPO human phenotypes related to Pulmonic Stenosis:

id Description Frequency HPO Source Accession
1 abnormality of the pulmonary artery hallmark (90%) HP:0004414
2 atria septal defect typical (50%) HP:0001631
3 pulmonic stenosis HP:0001642

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MinoxidilPhase 23438304-91-54201
Synonyms:
16317-69-4
2,3-Dihydro-3-hydroxy-2-imino-6-(1-piperidinyl)-4-pyrimidinamine
2,4-Diamino-6-piperidinilpirimidina-3-ossido
2,4-Diamino-6-piperidinilpirimidina-3-ossido [Italian]
2,4-Diamino-6-piperidino-pyrimidine-3-oxide
2,4-Diamino-6-piperidinopyrimidine 3-N-oxide
2,4-Diamino-6-piperidinopyrimidine 3-oxide
2,4-Pyrimidinediamine, 6-(1-piperidinyl)-, 3-oxide
2,6-Diamino-4-piperidinopyrimidin-1-oxid
3-hydroxy-2-imino-6-(1-piperidyl)pyrimidin-4-amine
3-hydroxy-2-imino-6-piperidin-1-ylpyrimidin-4-amine
38304-91-5
5-25-12-00317 (Beilstein Handbook Reference)
6-(1-Piperidinyl)-2,4-pyrimidinediamine 3-oxide
6-(piperidin-1-yl)pyrimidine-2,4-diamine 3-oxide
6-Amino-1,2-dihydro-1-hydroxy-2-imino-4-piperidinopyrimidine
6-Piperidin-1-ylpyrimidine-2,4-diamine 3-oxide
6-Piperidino-2,4-diaminopyrimidine 3-oxide
6-[1-Piperidinyl]pyrimidine-2,4-diamine 3 oxide
AB00513797
AC-5271
AC1L1HN1
Alopexil
Alostil
Ambap38304-91-5
Apo-Gain
Apo-gain
BCBcMAP01_000193
BPBio1_000065
BRD-K06902185-001-05-2
BRD-K14888893-001-02-3
BRN 0886240
BSPBio_000059
BSPBio_001385
BSPBio_002037
Bio1_000084
Bio1_000573
Bio1_001062
Bio2_000105
Bio2_000585
C9H15N5.H2O
CAS-38304-91-5
CBiol_001798
CHEBI:49774
CHEBI:6942
CHEMBL609587
CHEMBL802
CID4201
CPD-7668
CPD000058963
D00418
D008914
DB00350
DB08225
DivK1c_000160
EINECS 253-874-2
EU-0100786
Gen-Minoxidil
HMS1361F07
HMS1568C21
HMS1791F07
HMS1920P03
HMS1989F07
HMS2089L08
HMS2091F20
HMS500H22
HSDB 6538
IDI1_000160
IDI1_033855
Jsp006715
KBio1_000160
KBio2_000105
KBio2_001449
KBio2_002673
KBio2_004017
KBio2_005241
KBio2_006585
KBio3_000209
KBio3_000210
KBio3_001537
KBioGR_000105
KBioGR_000585
KBioSS_000105
KBioSS_001449
LS-135040
Loniten
Loniten (TN)
Lonolox
Lopac-M-4145
 
Lopac0_000786
M 4145
M1389
MINOXIDIL (FOR MEN)
MINOXIDIL (FOR WOMEN)
MINOXIDIL EXTRA STRENGTH (FOR MEN)
MINOXIDIL EXTRA STRENGTH FOR MEN
MLS000028566
MLS000859953
MLS001077294
Men s Rogaine Foam
Men's Rogaine
Mens Rogaine Foam
Minodyl
Minossidile
Minossidile [Italian]
Minoxidil
Minoxidil (USP/INN)
Minoxidil Pfizer Brand
Minoxidil [USAN:BAN:INN]
Minoxidilum
Minoxidilum [INN-Latin]
Minoxigaine
Minoximen
MolPort-003-666-236
MolPort-005-932-694
NCGC00015673-01
NCGC00015673-02
NCGC00015673-04
NCGC00015673-11
NCGC00018278-01
NCGC00024666-01
NCGC00024666-02
NCGC00024666-03
NCGC00024666-04
NCGC00024666-05
NCGC00024666-06
NCGC00024666-07
NCGC00024666-08
NCGC00179672-01
NINDS_000160
Neoxidil
Normoxidil
Pfizer Brand of Minoxidil
Pierminox
Prestwick0_000020
Prestwick1_000020
Prestwick2_000020
Prestwick3_000020
Prestwick_521
Prexidil
Pyrimidine, 2,4-diamino-6-piperidino-, 3-oxide
ROGAINE (FOR MEN)
ROGAINE (FOR WOMEN)
ROGAINE EXTRA STRENGTH (FOR MEN)
Regaine
RiUP
Riup (TN)
Rogaine
Rogaine (TN)
Rogaine Extra Strength for Men
Rogaine for Men
Rogaine for Women
Rogaine, Regaine, Avacor and Mintop, Minoxidil
S1383_Selleck
SAM002589949
SBB056986
SGCUT00112
SMP1_000192
SMR000058963
SMR000326812
SPBio_001006
SPBio_001980
SPECTRUM1500415
Spectrum2_001053
Spectrum3_000509
Spectrum4_000063
Spectrum5_001299
Spectrum_000969
TM-160
Theroxidil
Tocris-0583
Tricoxidil
Trocoxidil
U 10858
U-10,858
U-10858
ZINC00001735
minoxidil
nchembio.79-comp10
to_000070
2
sirolimusPhase 2186353123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
3
MiconazolePhase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
EverolimusPhase 21863159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
5
Citric Acid106377-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
6CitrateNutraceutical1063

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve DysfunctionRecruitingNCT02744677Phase 3
2Efficacy of Minoxidil in Children With Williams-Beuren SyndromeCompletedNCT00876200Phase 2
3Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent PlacementRecruitingNCT02365415Phase 2
4A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV)RecruitingNCT02555319Phase 2
5Pulmonary Arteriopathy-Diagnostics and TherapyCompletedNCT00266175
6Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
7Reproduction and Survival After Cardiac Defect RepairCompletedNCT00005190
8CryoValve SG Pulmonary Human Heart Valve Post Clearance StudyCompletedNCT01092442
9Retrospective Pulmonary Valve Replacement ImagingCompletedNCT00446108
10Early Re-intervention in Infants and Small Children After Correction of Tetralogy of FallotCompletedNCT00536432
11A Study of Strategies for Electrical Isolation of Pulmonic Veins for Curative Treatment of Atrial FibrillationCompletedNCT00434694
12Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of FallotRecruitingNCT02186691
13Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue BankRecruitingNCT02706639
14Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract ReconstructionRecruitingNCT02700100
15Pulmonic Valve REplacement Multi-discIpline EMEA RegistryActive, not recruitingNCT01356108
16COMPASSION: COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THVActive, not recruitingNCT00676689
17Pulmonary Artery Repair With Covered StentsActive, not recruitingNCT01824160
18Follow Up on Freestyle Valves in ChildrenActive, not recruitingNCT00385112
19Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right HeartNot yet recruitingNCT01444222
20Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731
21Implantation of the Venus P-Valve™ in the Pulmonic Position in Patients With Native Outflow TractsNot yet recruitingNCT02846753
22Mild Valvar Pulmonary StenosisTerminatedNCT00277927
23Adult Pulmonary Valve Replacement: A Simple and Reproducible TechniqueTerminatedNCT00384163

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS66/NDF-RT44:

Genetic Tests for Pulmonic Stenosis

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Genetic tests related to Pulmonic Stenosis:

id Genetic test Affiliating Genes
1 Pulmonic Stenosis25

Anatomical Context for Pulmonic Stenosis

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MalaCards organs/tissues related to Pulmonic Stenosis:

34
Heart, B cells, Liver, Lung

Animal Models for Pulmonic Stenosis or affiliated genes

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MGI Mouse Phenotypes related to Pulmonic Stenosis:

39 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3BRAF, KRAS, NF1, NR2F2, PTPN11
2MP:00053708.6BRAF, JAG1, KRAS, NF1, PTPN11, RAF1
3MP:00030128.3HRAS, IGFBP7, JAG1, KRAS, NR2F2, PTPN11
4MP:00053888.3BRAF, HRAS, KRAS, NF1, PTPN11, RAF1
5MP:00053698.1BRAF, DTNA, JAG1, KRAS, NF1, NR2F2
6MP:00053897.9BRAF, IGFBP7, KRAS, MAP2K1, NR2F2, PTPN11
7MP:00020067.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
8MP:00053777.4BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
9MP:00053807.3BRAF, JAG1, KRAS, MAP2K1, NF1, NR2F2
10MP:00053817.2BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
11MP:00107717.1BRAF, HRAS, IGFBP7, JAG1, KRAS, MAP2K1
12MP:00053847.0BRAF, IGFBP7, JAG1, KRAS, MAP2K1, MAP2K2
13MP:00053866.9BRAF, DTNA, HRAS, IGFBP7, JAG1, KRAS
14MP:00053826.9BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
15MP:00053916.7BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
16MP:00028736.6BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
17MP:00053766.6BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
18MP:00053796.4BRAF, HRAS, IGFBP7, JAG1, KRAS, MAP2K1
19MP:00036316.2BRAF, DTNA, HRAS, JAG1, KRAS, MAP2K1
20MP:00053906.0BRAF, DTNA, HRAS, JAG1, KRAS, MAP2K1
21MP:00107685.8BRAF, DTNA, HRAS, JAG1, KRAS, MAP2K1
22MP:00053855.8BRAF, DTNA, HRAS, JAG1, KRAS, MAP2K1
23MP:00053785.5BRAF, DTNA, HRAS, IGFBP7, JAG1, KRAS

Publications for Pulmonic Stenosis

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Articles related to Pulmonic Stenosis:

(show top 50)    (show all 337)
idTitleAuthorsYear
1
Anaesthetic management and complications of balloon valvuloplasty for pulmonic stenosis in dogs. (26374780)
2015
2
Pulmonic stenosis in dogs: survival and risk factors in a retrospective cohort of patients. (23889710)
2013
3
Novel coronary artery anomaly in an English Bulldog with pulmonic stenosis. (23869559)
2013
4
Prevalence of patent foramen ovale with right-to-left shunting in dogs with pulmonic stenosis. (22151278)
2012
5
Balloon valvuloplasty for treatment of pulmonic stenosis in English Bulldogs with an aberrant coronary artery--2 years later. (21777287)
2011
6
Addition of color Doppler to the routine obstetric sonographic survey aids in the detection of pulmonic stenosis. (20720393)
2010
7
Increased chymase-like activity in a dog with congenital pulmonic stenosis. (17689467)
2007
8
Balloon valvuloplasty of valvular pulmonic stenosis in the dog. (16180401)
2005
9
Pulmonic stenosis in dogs: balloon dilation improves clinical outcome. (15515581)
2004
10
Branchio-oculo-facial syndrome with valvular pulmonic stenosis. (15591681)
2004
11
Pathogenesis of single right coronary artery and pulmonic stenosis in English Bulldogs. (11300591)
2001
12
Pre-natal echocardiographic diagnosis and neonatal balloon dilatation of severe valvar pulmonic stenosis. (10798141)
1999
13
Doppler systemic venous flow patterns: changes in children with mild/moderate pulmonic stenosis. (8943440)
1996
14
Percutaneous balloon valvuloplasty for pulmonic stenosis in adolescents and adults. (8637537)
1996
15
Assessment of aortic and pulmonic stenosis by echocardiography. (1884484)
1991
16
Pulmonic stenosis caused by single coronary artery in dogs: four cases (1965-1984). (2295544)
1990
17
Management of neonatal critical pulmonic stenosis in the balloon valvotomy era. (2306149)
1990
18
A case of pulmonic stenosis with single coronary artery in a dog. (2739227)
1989
19
Percutaneous balloon valvuloplasty for the treatment of valvular pulmonic stenosis. (3658498)
1987
20
Acquired extrinsic pulmonic stenosis caused by mediastinal tumors. (7059957)
1982
21
Pannus formation in a Hancock-valved conduit resulting in proximal intraconduit obstruction: late complication of Rastelli procedure for complete transposition of the great vessels with ventricular septal defect and pulmonic stenosis. (7234666)
1981
22
Double outlet right ventricle, non-committed ventricular septal defect and pulmonic stenosis. Anatomical and surgical considerations. (6161439)
1980
23
Calcific pulmonic stenosis in adulthood: treatment by valve replacement (porcine xenograft) with postoperative hemodynamic evaluation. (570473)
1979
24
Morphological development of the pulmonary vascular bed in experimental pulmonic stenosis. (758111)
1979
25
Quantification of the Frank and McFee-Parungao orthogonal electrocardiogram in valvular pulmonic stenosis. Correlations with hemodynamic measurement. (422921)
1979
26
Total anomalous pulmonary venous connection and severe pulmonic stenosis in a 52-year-old man. (830210)
1977
27
Echocardiographic, angiocardiographic, and surgical correlations in right ventricular myxoma simulating valvar pulmonic stenosis. (837505)
1977
28
Double outlet right ventricle with pulmonic stenosis and anteriorly positioned aorta(Taussig-Bing variant). Report of a case and surgical correction. (4744273)
1973
29
Myocardial infarction and pulmonic stenosis in a dog. (5105715)
1971
30
Calcific pulmonic stenosis. (5653056)
1968
31
Ventricular weight ratios of normal swine and from swine with pulmonic stenosis. (5950427)
1966
32
MEDICAL PROBLEMS IN SURGERY FOR PULMONIC STENOSIS. (14299195)
1965
33
CONGENITAL PULMONIC STENOSIS COMPLICATING EBSTEIN'S ANOMALY OF THE TRICUSPID VALVE. (14222416)
1964
34
HEMODYNAMIC RESPONSE TO EXERCISE IN ISOLATED PULMONIC STENOSIS. (14172094)
1964
35
LEFT SUPERIOR VENA CAVA WITH ANOMALOUS INFERIOR VENA CAVA. REPORT OF A CASE WITH ASSOCIATED ATRIAL SEPTAL DEFECT AND PULMONIC STENOSIS, SUCCESSFULLY CORRECTED. (14056243)
1963
36
COMBINED SUPRAVALVULAR AORTIC AND PULMONIC STENOSIS. (14068767)
1963
37
Combined aortic and pulmonic stenosis. (14477792)
1962
38
Pulmonic stenosis, ventricular septal defect, and right ventricular pressure above systemic level. (14402410)
1960
39
Dynamics of valvular pulmonic stenosis studied by needle puncture of pulmonary artery and right ventricle on the operating table. (13525307)
1958
40
Pulmonic stenosis: posteroanterior roentogenographic appearance in 15 patients more than 34 years of age. (13485166)
1957
41
Pulmonic stenosis; its surgical treatment. (13279358)
1956
42
Pulmonic stenosis with left-to-right ventricular shunt. (13258481)
1955
43
Experimental production of progressive pulmonic stenosis. (13131376)
1954
44
Changes in blood volume following operation for pulmonic stenosis: studies with Evans blue and radioactive phosphorus. (14869923)
1951
45
Aortic vascular rings encountered in the surgical treatment of congenital pulmonic stenosis. (15410299)
1950
46
Roentgenographic changes in pulmonic stenosis; a report of 9 cases. (15419338)
1950
47
Surgical treatment of pulmonic stenosis. (18880726)
1948
48
The surgical treatment of congenital pulmonic stenosis. (18107237)
1947-1948
49
The Blalock operation for congenital pulmonic stenosis; report of two successful cases. (20284738)
1947
50
Anesthesia in the surgical treatment of congenital pulmonic stenosis. (20996692)
1946

Variations for Pulmonic Stenosis

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Expression for genes affiliated with Pulmonic Stenosis

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Search GEO for disease gene expression data for Pulmonic Stenosis.

Pathways for genes affiliated with Pulmonic Stenosis

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

(show top 50)    (show all 148)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.6HRAS, MAP2K1, PTPN11, RAF1
28.5HRAS, MAP2K1, MAP2K2, RAF1
38.5BRAF, MAP2K1, MAP2K2, NF1, RAF1
4
Show member pathways
8.5BRAF, MAP2K1, MAP2K2, NF1, RAF1
58.4HRAS, KRAS, MAP2K2, PTPN11, RAF1
68.4BRAF, HRAS, IGFBP7, MAP2K1, RAF1
78.2HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
8
Show member pathways
8.2HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
9
Show member pathways
8.2HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
108.2HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
118.2HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
128.1BRAF, KRAS, MAP2K1, MAP2K2, RAF1
138.1BRAF, KRAS, MAP2K1, MAP2K2, RAF1
147.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2
157.9HRAS, KRAS, MAP2K1, PTPN11, RAF1
167.9HRAS, KRAS, MAP2K1, MAP2K2, RAF1
17
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, RAF1
18
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, RAF1
19
Show member pathways
7.9HRAS, KRAS, MAP2K1, MAP2K2, RAF1
207.9HRAS, KRAS, MAP2K1, MAP2K2, RAF1
217.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
22
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
23
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
24
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
25
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
26
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
277.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
287.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
29
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
30
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
31
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
32
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
337.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
34
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
35
Show member pathways
7.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
36
Show member pathways
7.6HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1
377.6HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1
387.5HRAS, KRAS, MAP2K1, MAP2K2, RAF1, ZIC3
397.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
40
Show member pathways
7.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
417.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
42
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
437.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
447.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
45
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
46
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
47
Show member pathways
7.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
48
Show member pathways
7.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
49
Show member pathways
7.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
50
Show member pathways
6.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1

GO Terms for genes affiliated with Pulmonic Stenosis

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

(show all 47)
idNameGO IDScoreTop Affiliating Genes
1regulation of transcription involved in lymphatic endothelial cell fate commitmentGO:006084910.4MIR1469, NR2F2
2radial pattern formationGO:000995610.4MIR1469, NR2F2
3forebrain astrocyte developmentGO:002189710.4KRAS, NF1
4trophoblast giant cell differentiationGO:006070710.4MIR1469, NR2F2
5lymph vessel developmentGO:000194510.3MIR1469, NR2F2
6neurotrophin TRK receptor signaling pathwayGO:004801110.3PTPN11, RAF1
7positive regulation of systemic arterial blood pressureGO:000308410.3MIR1469, NR2F2
8negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:004573610.2MIR1469, NR2F2
9maternal placenta developmentGO:000189310.1MIR1469, NR2F2
10negative regulation of endothelial cell migrationGO:001059610.1MIR1469, NR2F2
11positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.1MAP2K1, MAP2K2
12proteolysis in other organismGO:003589710.1MAP2K1, MAP2K2
13regulation of Golgi inheritanceGO:009017010.0MAP2K1, MAP2K2
14negative regulation of endothelial cell proliferationGO:000193710.0MIR1469, NF1, NR2F2
15regulation of stress-activated MAPK cascadeGO:003287210.0MAP2K1, MAP2K2
16Bergmann glial cell differentiationGO:006002010.0MAP2K1, PTPN11
17animal organ morphogenesisGO:000988710.0BRAF, HRAS, JAG1
18epithelial cell proliferation involved in lung morphogenesisGO:00605029.9MAP2K1, MAP2K2
19cerebellar cortex formationGO:00216979.9MAP2K1, PTPN11
20somatic stem cell population maintenanceGO:00350199.9BRAF, RAF1, ZIC3
21trachea formationGO:00604409.8MAP2K1, MAP2K2
22skeletal muscle tissue developmentGO:00075199.8MIR1469, NF1, NR2F2
23regulation of synaptic transmission, GABAergicGO:00322289.8KRAS, NF1
24lipid metabolic processGO:00066299.8MIR1469, NR2F2, PTPN11
25regulation of early endosome to late endosome transportGO:20006419.7MAP2K1, MAP2K2
26anterior/posterior pattern specificationGO:00099529.7MIR1469, NR2F2, ZIC3
27positive regulation of axonogenesisGO:00507729.7BRAF, MAP2K1, MAP2K2
28regulation of axon regenerationGO:00486799.7BRAF, MAP2K1, MAP2K2
29stimulatory C-type lectin receptor signaling pathwayGO:00022239.7HRAS, KRAS, RAF1
30epidermal growth factor receptor signaling pathwayGO:00071739.5HRAS, KRAS, PTPN11
31placenta blood vessel developmentGO:00606749.5MAP2K1, MIR1469, NR2F2
32negative regulation of neuron apoptotic processGO:00435249.5BRAF, HRAS, KRAS
33Ras protein signal transductionGO:00072659.4HRAS, KRAS, NF1
34thyroid gland developmentGO:00308789.3BRAF, MAP2K1, MAP2K2, RAF1
35face developmentGO:00603249.3BRAF, MAP2K1, MAP2K2, RAF1
36leukocyte migrationGO:00509009.3HRAS, KRAS, PTPN11
37regulation of long-term neuronal synaptic plasticityGO:00481699.3HRAS, KRAS, NF1
38visual learningGO:00085429.3BRAF, KRAS, NF1
39thymus developmentGO:00485389.3BRAF, MAP2K1, MAP2K2, RAF1
40heart developmentGO:00075078.7MAP2K1, MAP2K2, NF1, PTPN11, RAF1
41positive regulation of gene expressionGO:00106288.7BRAF, HRAS, KRAS, MAP2K1
42activation of MAPK activityGO:00001878.6MAP2K1, MAP2K2, PTPN11
43negative regulation of cell proliferationGO:00082858.5HRAS, IGFBP7, MAP2K1, NF1, RAF1
44positive regulation of transcription, DNA-templatedGO:00458938.4MAP2K1, MAP2K2, MIR1469, NR2F2, ZIC3
45positive regulation of ERK1 and ERK2 cascadeGO:00703748.2BRAF, HRAS, MAP2K1, MAP2K2, PTPN11
46MAPK cascadeGO:00001657.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
47signal transductionGO:00071657.5DTNA, HRAS, MAP2K1, MIR1469, NR2F2, RAF1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:000470910.6BRAF, RAF1
2small GTPase bindingGO:003126710.6BRAF, RAF1
3mitogen-activated protein kinase kinase bindingGO:003143410.4BRAF, RAF1
4MAP kinase kinase activityGO:000470810.1MAP2K1, MAP2K2
5protein serine/threonine kinase activator activityGO:004353910.0MAP2K1, MAP2K2
6protein serine/threonine kinase activityGO:00046749.2BRAF, MAP2K1, MAP2K2, RAF1
7protein bindingGO:00055154.7BRAF, DTNA, HRAS, IGFBP7, JAG1, KRAS

Sources for Pulmonic Stenosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet