MCID: PLM070
MIFTS: 59

Pulmonic Stenosis malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Pulmonic Stenosis

About this section
Sources:
26GTR, 29ICD10, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pulmonic Stenosis:

Name: Pulmonic Stenosis 51 47 26
Congenital Pulmonary Valve Stenosis 53
Valvular Pulmonic Stenosis 47
 
Pulmonary Valve Stenosis 67
Pulmonary Stenosis 67

Characteristics:

Orphanet epidemiological data:

53
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:

OMIM51 265500
Orphanet53 ORPHA3189
MESH via Orphanet39 D011666
UMLS via Orphanet68 C0162164
ICD10 via Orphanet30 Q22.1
ICD1029 Q22.1

Summaries for Pulmonic Stenosis

About this section
Wikipedia:70 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 Nongenotropic Androgen signaling and Semaphorin Signaling. The drug alprostadil has been mentioned in the context of this disorder. Affiliated tissues include heart, bone and b cells, and related mouse phenotypes are pigmentation and reproductive system.

Description from OMIM:51 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 97)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 129.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
2retinal arterial macroaneurysm with supravalvular pulmonic stenosis12.4
3watson syndrome11.7
4keutel syndrome11.2
5pulmonary subvalvular stenosis11.2
6pulmonary valve stenosis11.2
7cardiofaciocutaneous syndrome11.1
8heterotaxy, visceral, 1, x-linked11.1
9lentiginosis, inherited patterned11.0
10leopard syndrome 210.9
11leopard syndrome 310.9
12costello syndrome10.9
13cardiofaciocutaneous syndrome 210.9
14noonan syndrome 110.9
15cardiofaciocutaneous syndrome 310.9
16congenital heart defects, multiple types, 410.9
17left ventricular noncompaction 1, with or without congenital heart defects10.9
18cardiofaciocutaneous syndrome 410.9
19pleomorphic xanthoastrocytoma10.6BRAF, NF1
20gliofibroma10.6BRAF, NF1
21pulmonary venoocclusive disease10.4BRAF, KRAS
22split hand split foot malformation autosomal recessive10.4BRAF, HRAS
23sexual masochism10.3KRAS, RAF1
24growth hormone insensitivity with immunodeficiency10.3MAP2K2, NF1, PTPN11
25brachial plexus neuritis10.3KRAS, RAF1
26vagina sarcoma10.3HRAS, KRAS
27ventricular septal defect10.3
28glomerulosclerosis10.3HRAS, KRAS
29otof-related deafness10.3BRAF, PTPN11, RAF1
30bladder benign neoplasm10.3KRAS, RAF1
31gonococcal spondylitis10.3HRAS, KRAS
32epidermal nevus, somatic10.3HRAS, KRAS
33schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.2HRAS, KRAS
34myxosarcoma10.2HRAS, KRAS
35tetralogy of fallot10.2
36seminal vesicle chronic gonorrhea10.2HRAS, KRAS
37ureter adenocarcinoma10.2HRAS, KRAS
38neonatal stroke10.2HRAS, NF1, PTPN11
39giant cell glioblastoma10.1KRAS, NF1, PTPN11
40mediastinum teratoma10.1BRAF, KRAS
41trachea adenoid cystic carcinoma10.1HRAS, KRAS
42mediastinitis10.1
43aneurysm10.1
44breast papillary carcinoma10.1HRAS, KRAS
45spindle epithelial tumor with thymus-like differentiation tumor10.1HRAS, KRAS
46arteritic anterior ischemic optic neuropathy10.1BRAF, HRAS, KRAS
47otosclerosis 110.1MIR1469, NR2F2
48atrial standstill10.1BRAF, HRAS, KRAS
49uterine ligament serous adenocarcinoma10.1HRAS, KRAS
50pulmonary hypertension10.1

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

Human phenotypes related to Pulmonic Stenosis:

 63 53 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pulmonary artery63 hallmark (90%) HP:0004414
2 atria septal defect63 typical (50%) HP:0001631
3 pulmonic stenosis63 HP:0001642
4 laryngeal stenosis53 Very frequent (99-80%)
5 defect in the atrial septum53 Frequent (79-30%)
6 malformation of the heart and great vessels53 Occasional (29-5%)

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MinoxidilapprovedPhase 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
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
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
3
Sirolimusapproved, investigationalPhase 2189653123-88-95284616, 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
4
EverolimusapprovedPhase 21896159351-69-66442177
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
5Antihypertensive AgentsPhase 24095
6Vasodilator AgentsPhase 23438
7Immunosuppressive AgentsPhase 212770
8Anti-Infective AgentsPhase 221402
9Anti-Bacterial AgentsPhase 210884
10Antibiotics, AntitubercularPhase 26972
11Antifungal AgentsPhase 23615
12Hormones13979
13Chelating Agents1365
14Bone Density Conservation Agents3266
15Calcium, Dietary5525
16Anticoagulants2516
17CitrateNutraceutical1106
18
Citric Acidnutraceutical, vet_approved110677-92-9311
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

Interventional clinical trials:

(show all 25)
idNameStatusNCT IDPhase
1COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve DysfunctionNot yet recruitingNCT02987387Phase 4
2Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve DysfunctionRecruitingNCT02744677Phase 3
3Efficacy of Minoxidil in Children With Williams-Beuren SyndromeCompletedNCT00876200Phase 2
4Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent PlacementRecruitingNCT02365415Phase 2
5A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV)Active, not recruitingNCT02555319Phase 2
6Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right HeartUnknown statusNCT01444222
7Pulmonary Arteriopathy-Diagnostics and TherapyCompletedNCT00266175
8Follow Up on Freestyle Valves in ChildrenCompletedNCT00385112
9Retrospective Pulmonary Valve Replacement ImagingCompletedNCT00446108
10CryoValve SG Pulmonary Human Heart Valve Post Clearance StudyCompletedNCT01092442
11Early Re-intervention in Infants and Small Children After Correction of Tetralogy of FallotCompletedNCT00536432
12Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
13Reproduction and Survival After Cardiac Defect RepairCompletedNCT00005190
14A Study of Strategies for Electrical Isolation of Pulmonic Veins for Curative Treatment of Atrial FibrillationCompletedNCT00434694
15Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of FallotRecruitingNCT02186691
16Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue BankRecruitingNCT02706639
17Pulmonic Valve REplacement Multi-discIpline EMEA RegistryActive, not recruitingNCT01356108
18Pulmonary Artery Repair With Covered StentsActive, not recruitingNCT01824160
19COMPASSION: COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THVActive, not recruitingNCT00676689
20Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract ReconstructionActive, not recruitingNCT02700100
21Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility StudyNot yet recruitingNCT03022708
22Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731
23Implantation of the Venus P-Valve™ in the Pulmonic Position in Patients With Native Outflow TractsNot yet recruitingNCT02846753
24Mild Valvar Pulmonary StenosisTerminatedNCT00277927
25Adult Pulmonary Valve Replacement: A Simple and Reproducible TechniqueTerminatedNCT00384163

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS67/NDF-RT45:

Genetic Tests for Pulmonic Stenosis

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Genetic tests related to Pulmonic Stenosis:

id Genetic test Affiliating Genes
1 Pulmonic Stenosis26

Anatomical Context for Pulmonic Stenosis

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MalaCards organs/tissues related to Pulmonic Stenosis:

35
Heart, Bone, B cells, Liver, Lung

Animal Models for Pulmonic Stenosis or affiliated genes

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MGI Mouse Phenotypes related to Pulmonic Stenosis:

40 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4BRAF, KRAS, NF1, NR2F2, PTPN11
2MP:00053898.5BRAF, IGFBP7, KRAS, MAP2K1, NR2F2, PTPN11
3MP:00053888.4BRAF, HRAS, KRAS, NF1, PTPN11, RAF1
4MP:00020068.2BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
5MP:00053708.0BRAF, JAG1, KRAS, NF1, PTPN11, RAF1
6MP:00030128.0HRAS, IGFBP7, JAG1, KRAS, NR2F2, PTPN11
7MP:00053697.6BRAF, DTNA, JAG1, KRAS, NF1, NR2F2
8MP:00053777.5BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
9MP:00053807.4BRAF, JAG1, KRAS, MAP2K1, NF1, NR2F2
10MP:00053817.1BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
11MP:00107717.1BRAF, HRAS, IGFBP7, JAG1, KRAS, MAP2K1
12MP:00053847.0BRAF, IGFBP7, JAG1, KRAS, MAP2K1, MAP2K2
13MP:00053917.0BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
14MP:00053766.9BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
15MP:00053796.9BRAF, HRAS, IGFBP7, JAG1, KRAS, MAP2K1
16MP:00053826.8BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
17MP:00028736.8BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
18MP:00053866.6BRAF, DTNA, HRAS, IGFBP7, JAG1, KRAS
19MP:00053906.3BRAF, DTNA, HRAS, JAG1, KRAS, MAP2K1
20MP:00036316.1BRAF, 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 339)
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 all 42)
idSuper pathwaysScoreTop Affiliating Genes
19.0HRAS, MAP2K1, MAP2K2, RAF1
29.0BRAF, MAP2K1, MAP2K2, NF1, RAF1
3
Show member pathways
9.0BRAF, MAP2K1, MAP2K2, NF1, RAF1
4
Show member pathways
9.0HRAS, MAP2K1, PTPN11, RAF1
58.8BRAF, KRAS, MAP2K1, MAP2K2, RAF1
68.8BRAF, KRAS, MAP2K1, MAP2K2, RAF1
78.8BRAF, HRAS, IGFBP7, MAP2K1, RAF1
88.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2
98.7HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
108.7HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
11
Show member pathways
8.7HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
128.6HRAS, KRAS, MAP2K1, MAP2K2, RAF1
138.6HRAS, KRAS, MAP2K1, MAP2K2, RAF1
14
Show member pathways
8.6HRAS, KRAS, MAP2K1, MAP2K2, RAF1
15
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
16
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
17
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
18
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
198.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
20
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
21
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
22
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
238.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
24
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
25
Show member pathways
8.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
268.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
278.4BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
288.3HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1
29
Show member pathways
8.3HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1
308.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
318.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
32
Show member pathways
8.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
338.1HRAS, KRAS, MAP2K1, MAP2K2, RAF1, ZIC3
348.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
35
Show member pathways
8.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
36
Show member pathways
8.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
37
Show member pathways
8.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
388.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
39
Show member pathways
8.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
40
Show member pathways
7.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
41
Show member pathways
7.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
42
Show member pathways
7.0BRAF, 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
1positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.6MAP2K1, MAP2K2
2proteolysis in other organismGO:003589710.6MAP2K1, MAP2K2
3regulation of Golgi inheritanceGO:009017010.6MAP2K1, MAP2K2
4forebrain astrocyte developmentGO:002189710.6KRAS, NF1
5regulation of stress-activated MAPK cascadeGO:003287210.6MAP2K1, MAP2K2
6epithelial cell proliferation involved in lung morphogenesisGO:006050210.5MAP2K1, MAP2K2
7Bergmann glial cell differentiationGO:006002010.5MAP2K1, PTPN11
8radial pattern formationGO:000995610.4MIR1469, NR2F2
9regulation of transcription involved in lymphatic endothelial cell fate commitmentGO:006084910.4MIR1469, NR2F2
10cerebellar cortex formationGO:002169710.4MAP2K1, PTPN11
11trophoblast giant cell differentiationGO:006070710.4MIR1469, NR2F2
12trachea formationGO:006044010.4MAP2K1, MAP2K2
13neurotrophin TRK receptor signaling pathwayGO:004801110.4PTPN11, RAF1
14positive regulation of systemic arterial blood pressureGO:000308410.3MIR1469, NR2F2
15lymph vessel developmentGO:000194510.3MIR1469, NR2F2
16negative regulation of cyclin-dependent protein serine/threonine kinase activityGO:004573610.3MIR1469, NR2F2
17positive regulation of axonogenesisGO:005077210.2BRAF, MAP2K1, MAP2K2
18regulation of axon regenerationGO:004867910.2BRAF, MAP2K1, MAP2K2
19regulation of early endosome to late endosome transportGO:200064110.2MAP2K1, MAP2K2
20maternal placenta developmentGO:000189310.2MIR1469, NR2F2
21negative regulation of endothelial cell migrationGO:001059610.1MIR1469, NR2F2
22negative regulation of endothelial cell proliferationGO:000193710.1MIR1469, NF1, NR2F2
23regulation of synaptic transmission, GABAergicGO:003222810.0KRAS, NF1
24placenta blood vessel developmentGO:006067410.0MAP2K1, MIR1469, NR2F2
25thyroid gland developmentGO:00308789.9BRAF, MAP2K1, MAP2K2, RAF1
26face developmentGO:00603249.9BRAF, MAP2K1, MAP2K2, RAF1
27stimulatory C-type lectin receptor signaling pathwayGO:00022239.9HRAS, KRAS, RAF1
28activation of MAPK activityGO:00001879.8MAP2K1, MAP2K2, PTPN11
29lipid metabolic processGO:00066299.8MIR1469, NR2F2, PTPN11
30thymus developmentGO:00485389.8BRAF, MAP2K1, MAP2K2, RAF1
31skeletal muscle tissue developmentGO:00075199.8MIR1469, NF1, NR2F2
32epidermal growth factor receptor signaling pathwayGO:00071739.8HRAS, KRAS, PTPN11
33somatic stem cell population maintenanceGO:00350199.7BRAF, RAF1, ZIC3
34Ras protein signal transductionGO:00072659.7HRAS, KRAS, NF1
35anterior/posterior pattern specificationGO:00099529.7MIR1469, NR2F2, ZIC3
36leukocyte migrationGO:00509009.7HRAS, KRAS, PTPN11
37negative regulation of neuron apoptotic processGO:00435249.7BRAF, HRAS, KRAS
38regulation of long-term neuronal synaptic plasticityGO:00481699.5HRAS, KRAS, NF1
39animal organ morphogenesisGO:00098879.5BRAF, HRAS, JAG1
40visual learningGO:00085429.3BRAF, KRAS, NF1
41positive regulation of gene expressionGO:00106289.2BRAF, HRAS, KRAS, MAP2K1
42heart developmentGO:00075079.2MAP2K1, MAP2K2, NF1, PTPN11, RAF1
43negative regulation of cell proliferationGO:00082859.0HRAS, IGFBP7, MAP2K1, NF1, RAF1
44positive regulation of transcription, DNA-templatedGO:00458938.9MAP2K1, MAP2K2, MIR1469, NR2F2, ZIC3
45positive regulation of ERK1 and ERK2 cascadeGO:00703748.7BRAF, HRAS, MAP2K1, MAP2K2, PTPN11
46MAPK cascadeGO:00001658.5BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
47signal transductionGO:00071657.9DTNA, 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
3MAP kinase kinase activityGO:000470810.6MAP2K1, MAP2K2
4protein serine/threonine kinase activator activityGO:004353910.5MAP2K1, MAP2K2
5mitogen-activated protein kinase kinase bindingGO:003143410.5BRAF, RAF1
6protein serine/threonine kinase activityGO:00046749.8BRAF, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet