MCID: PLM070
MIFTS: 59

Pulmonic Stenosis malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Pulmonic Stenosis

About this section
Sources:
27GTR, 30ICD10, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Pulmonic Stenosis:

Name: Pulmonic Stenosis 52 48 27
Congenital Pulmonary Valve Stenosis 54
Valvular Pulmonic Stenosis 48
 
Pulmonary Valve Stenosis 68
Pulmonary Stenosis 68

Characteristics:

Orphanet epidemiological data:

54
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:

OMIM52 265500
Orphanet54 ORPHA3189
MESH via Orphanet40 D011666
UMLS via Orphanet69 C0162164
ICD10 via Orphanet31 Q22.1
ICD1030 Q22.1

Summaries for Pulmonic Stenosis

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Wikipedia:71 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 3 and retinal arterial macroaneurysm with supravalvular pulmonic stenosis, and has symptoms including Array, Array and Array. An important gene associated with Pulmonic Stenosis is NF1 (Neurofibromin 1), and among its related pathways are Estrogen signaling pathway and Cellular roles of Anthrax toxin. 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 Increased cell migration and Increased shRNA abundance (Z-score > 2).

Description from OMIM:52 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1leopard syndrome 330.7BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
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
8leopard syndrome 111.1
9heterotaxy, visceral, 1, x-linked11.1
10leopard syndrome11.0
11leopard syndrome 210.9
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
19ventricular septal defect10.3
20pineal gland astrocytoma10.3BRAF, NF1
21tetralogy of fallot10.2
22spondylarthropathy10.2BRAF, HRAS
23malignant skin fibrous histiocytoma10.1HRAS, KRAS
24polg-related disorders10.1BRAF, PTPN11, RAF1
25growth hormone insensitivity with immunodeficiency10.1MAP2K2, NF1, PTPN11
26mediastinitis10.1
27aneurysm10.1
28biliary papillomatosis10.1BRAF, KRAS
29chronic venous insufficiency10.1HRAS, KRAS
30severe pre-eclampsia10.1HRAS, KRAS
31infantile thalamic degeneration10.1BRAF, KRAS
32nephrolithiasis10.1HRAS, NF1, PTPN11
33ichthyosis, congenital, autosomal recessive 910.1MIR1469, NR2F2
34erythrocyte lactate transporter defect10.1HRAS, KRAS
35parotid gland adenoid cystic carcinoma10.1HRAS, MAP2K1
36seborrheic dermatitis10.1HRAS, NF1, PTPN11
37pulmonary hypertension10.1
38heart disease10.1
39patent ductus arteriosus10.1
40spongiotic dermatitis10.0HRAS, KRAS, MAP2K1
41oral squamous cell carcinoma10.0BRAF, HRAS, KRAS
42brachial plexus neuropathy10.0HRAS, KRAS, RAF1
43progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.0BRAF, HRAS, MAP2K1
44non-distal monosomy 10q10.0BRAF, HRAS, KRAS
45melanocytic nevus syndrome, congenital, somatic10.0HRAS, KRAS
46pseudomonas stutzeri infections10.0BRAF, KRAS, PTPN11, RAF1
47rdh12-related leber congenital amaurosis10.0BRAF, KRAS, PTPN11, RAF1
48congestive heart failure9.9
49patent foramen ovale9.9
50medullary cystic kidney disease 19.9HRAS, KRAS, NF1, PTPN11

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



Diseases related to pulmonic stenosis

Symptoms & Phenotypes for Pulmonic Stenosis

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Symptoms by clinical synopsis from OMIM:

265500

Clinical features from OMIM:

265500

Human phenotypes related to Pulmonic Stenosis:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngeal stenosis64 54 Very frequent (99-80%) HP:0001602
2 atria septal defect54 Frequent (79-30%)
3 malformation of the heart and great vessels54 Occasional (29-5%)
4 pulmonic stenosis64 HP:0001642
5 atrial septal defect64 HP:0001631

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-39.6BRAF, HRAS, KRAS, NF1
2GR00366-A-1929.3BRAF, NF1, PTPN11, RAF1
3GR00055-A-19.2BRAF, HRAS, KRAS, MAP2K2, NF1

MGI Mouse Phenotypes related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

41 (show all 23)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2BRAF, KRAS, NF1, NR2F2, PTPN11
2MP:00020068.3BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
3MP:00053898.2BRAF, IGFBP7, KRAS, MAP2K1, NR2F2, PTPN11
4MP:00053708.2BRAF, JAG1, KRAS, NF1, PTPN11, RAF1
5MP:00053888.1BRAF, HRAS, KRAS, NF1, PTPN11, RAF1
6MP:00030128.0HRAS, IGFBP7, JAG1, KRAS, NR2F2, PTPN11
7MP:00053777.8BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
8MP:00053807.7BRAF, JAG1, KRAS, MAP2K1, NF1, NR2F2
9MP:00053697.6BRAF, DTNA, JAG1, KRAS, NF1, NR2F2
10MP:00053827.5BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
11MP:00107717.4BRAF, HRAS, IGFBP7, JAG1, KRAS, MAP2K1
12MP:00053847.4BRAF, IGFBP7, JAG1, KRAS, MAP2K1, MAP2K2
13MP:00053817.4BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
14MP:00053767.3BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
15MP:00053917.2BRAF, JAG1, KRAS, MAP2K1, MAP2K2, NF1
16MP:00028737.2BRAF, HRAS, JAG1, KRAS, MAP2K1, MAP2K2
17MP:00053796.9BRAF, HRAS, IGFBP7, JAG1, KRAS, MAP2K1
18MP:00053866.8BRAF, DTNA, HRAS, IGFBP7, JAG1, KRAS
19MP:00053906.4BRAF, DTNA, HRAS, JAG1, KRAS, MAP2K1
20MP:00036316.0BRAF, 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

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 2370622916-47-84189
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 2194053123-88-95284616, 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 21940159351-69-66442177
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 24207
6Vasodilator AgentsPhase 23543
7Immunosuppressive AgentsPhase 213086
8Anti-Infective AgentsPhase 222062
9Anti-Bacterial AgentsPhase 211226
10Antibiotics, AntitubercularPhase 27180
11Antifungal AgentsPhase 23696
12Hormones14415
13Chelating Agents1423
14Bone Density Conservation Agents3376
15Calcium, Dietary5713
16Anticoagulants2623
17CitrateNutraceutical1160
18
Citric Acidnutraceutical, vet_approved116077-92-9311
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 27)
idNameStatusNCT IDPhase
1COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve DysfunctionNot yet recruitingNCT02987387Phase 4
2COMPASSION S3 - Evaluation 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
5Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right HeartUnknown statusNCT01444222
6Pulmonary Arteriopathy-Diagnostics and TherapyCompletedNCT00266175
7Follow Up on Freestyle Valves in ChildrenCompletedNCT00385112
8Retrospective Pulmonary Valve Replacement ImagingCompletedNCT00446108
9CryoValve SG Pulmonary Human Heart Valve Post Clearance StudyCompletedNCT01092442
10Early Re-intervention in Infants and Small Children After Correction of Tetralogy of FallotCompletedNCT00536432
11Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac DefectsCompletedNCT00004361
12Reproduction and Survival After Cardiac Defect RepairCompletedNCT00005190
13A Study of Strategies for Electrical Isolation of Pulmonic Veins for Curative Treatment of Atrial FibrillationCompletedNCT00434694
14Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of FallotRecruitingNCT02186691
15PULSTA® Transcatheter Pulmonary Valve Korean Multicenter StudyRecruitingNCT03110861
16Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue BankRecruitingNCT02706639
17Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility StudyRecruitingNCT03022708
18Pulmonic Valve REplacement Multi-discIpline EMEA RegistryActive, not recruitingNCT01356108
19Pulmonary Artery Repair With Covered StentsActive, not recruitingNCT01824160
20COMPASSION - COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THVActive, not recruitingNCT00676689
21A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV)Active, not recruitingNCT02555319
22Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract ReconstructionActive, not recruitingNCT02700100
23Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive PrestentNot yet recruitingNCT03130777
24Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731
25Implantation of the Venus P-Valve™ in the Pulmonic Position in Patients With Native Outflow TractsNot yet recruitingNCT02846753
26Mild Valvar Pulmonary StenosisTerminatedNCT00277927
27Adult Pulmonary Valve Replacement: A Simple and Reproducible TechniqueTerminatedNCT00384163

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS68/NDF-RT46:

Genetic Tests for Pulmonic Stenosis

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Genetic tests related to Pulmonic Stenosis:

id Genetic test Affiliating Genes
1 Pulmonic Stenosis27

Anatomical Context for Pulmonic Stenosis

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MalaCards organs/tissues related to Pulmonic Stenosis:

36
Heart, B cells, Liver, Lung

Publications for Pulmonic Stenosis

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Articles related to Pulmonic Stenosis:

(show top 50)    (show all 342)
idTitleAuthorsYear
1
Infundibular Pulmonic Stenosis in a Moluccan Cockatoo (Cacatua moluccensis). (28358604)
2017
2
Dehiscence of a pulmonary bioprosthesis with a focal dissection of the pulmonary artery in a patient with congenital pulmonic stenosis. (28345243)
2017
3
Full Development of Consequences of Congenital Pulmonic Stenosis in Eighty-Four Years. (28256252)
2017
4
Use of ECG-gated computed tomography, echocardiography and selective angiography in five dogs with pulmonic stenosis and one dog with pulmonic stenosis and aberrant coronary arteries. (27693045)
2016
5
Aortic Translocation for Repair of Transposition of the Great Arteries (S,D,L) With Ventricular Septal Defect and Pulmonic Stenosis. (26694279)
2016
6
Palliative balloon dilation of pulmonic stenosis in a dog with tetralogy of Fallot. (27025569)
2016
7
50 Years Ago in The Journal of Pediatrics: Valvular Pulmonic Stenosis in Infancy. (26719177)
2016
8
Balloon dilation of congenital supravalvular pulmonic stenosis in a dog. (27297421)
2016
9
Pulmonary artery dissection following balloon valvuloplasty in a dog with pulmonic stenosis. (27913078)
2016
10
Anaesthetic management and complications of balloon valvuloplasty for pulmonic stenosis in dogs. (26374780)
2015
11
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. (26178382)
2015
12
Management and complications of anaesthesia during balloon valvuloplasty for pulmonic stenosis in dogs: 39 cases (2000 to 2012). (24450439)
2014
13
Combined aortic and pulmonic stenosis in an octogenarian: findings from echocardiography, catheterization, and pathology. (24493808)
2014
14
Plasma N-terminal pro B-type natriuretic peptide concentrations in dogs with pulmonic stenosis. (24561377)
2014
15
Comparison of long-term postoperative sequelae in patients with tetralogy of Fallot versus isolated pulmonic stenosis. (24878128)
2014
16
Endovascular stenting of suture line supravalvular pulmonic stenosis after orthotopic heart transplantation using rapid pacing stabilization. (25147046)
2014
17
Giant left atrial appendage mimicking a mediastinal mass in a new diagnosis of atrial septal defect and pulmonic stenosis. (24794055)
2014
18
Pulmonic stenosis in dogs: survival and risk factors in a retrospective cohort of patients. (23889710)
2013
19
Novel coronary artery anomaly in an English Bulldog with pulmonic stenosis. (23869559)
2013
20
A large left ventricular diverticulum in a patient withA congenital pulmonic stenosis. (23684527)
2013
21
Surgical treatment of severe pulmonic stenosis under cardiopulmonary bypass in small dogs. (22225461)
2012
22
Surgical therapy for canine congenital valvular pulmonic stenosis: when and how? (22283792)
2012
23
Pseudo-pulmonic stenosis in non-hodgkin's large B-cell lymphoma. (22494268)
2012
24
The relevance of echocardiography heart measures for breeding against the risk of subaortic and pulmonic stenosis in Boxer dogs. (21908643)
2012
25
Massive dilatation of the pulmonary artery in association with pulmonic stenosis and pulmonary hypertension. (22837867)
2012
26
Evidence for increased probability of cardiac death in dogs with pulmonic stenosis questionable. (22533322)
2012
27
Prevalence of patent foramen ovale with right-to-left shunting in dogs with pulmonic stenosis. (22151278)
2012
28
Balloon valvuloplasty for treatment of pulmonic stenosis in English Bulldogs with an aberrant coronary artery--2 years later. (21777287)
2011
29
Outcome in 55 dogs with pulmonic stenosis that did not undergo balloon valvuloplasty or surgery. (21627655)
2011
30
A case of valvular pulmonic stenosis and an aberrant coronary artery in a Brittany spaniel. (22043079)
2011
31
A case of left main systolic compression caused by a dilated pulmonary artery in a patient with congenital pulmonic stenosis. (21041858)
2010
32
Congenital pulmonic stenosis in a 77-year-old woman successfully treated with percutaneous balloon valvuloplasty. (20157499)
2010
33
Balloon valvuloplasty for treatment of pulmonic stenosis in English Bulldogs with an aberrant coronary artery. (20102492)
2010
34
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. (20437614)
2010
35
Addition of color Doppler to the routine obstetric sonographic survey aids in the detection of pulmonic stenosis. (20720393)
2010
36
Histological study of right ventricle-pulmonary artery valved conduit implantation (RPVC) in dogs with pulmonic stenosis. (19420842)
2009
37
Efficacy of open patch-grafting under cardiopulmonary bypass for pulmonic stenosis in small dogs. (19245618)
2009
38
Cardiac troponin I and C-reactive protein concentrations in dogs with severe pulmonic stenosis before and after balloon valvuloplasty. (19473901)
2009
39
Cardiovascular effects of right ventricle-pulmonary artery valved conduit implantation in experimental pulmonic stenosis. (19420852)
2009
40
Presentation of pulmonary artery intimal sarcoma in an infant with a history of neonatal valvular pulmonic stenosis. (18291210)
2008
41
Percutaneous balloon valvuloplasty for pulmonic stenosis: the role of multimodality imaging. (18190536)
2008
42
Aneurysm of right ventricular outflow tract with pulmonic stenosis 28 years after atrial septal defect repair. (18258521)
2008
43
An unusual severe pulmonic stenosis case without significant electrocardiographic changes. (18065320)
2007
44
Partial anomalous pulmonary venous return presenting as pseudo-pulmonic stenosis. (19083893)
2007
45
Increased chymase-like activity in a dog with congenital pulmonic stenosis. (17689467)
2007
46
Surgical correction of pulmonic stenosis using transventricular pulmonic dilation valvuloplasty (Brock) in a dog. (17485937)
2007
47
Transcatheter intravascular stent placement to relieve supravalvular pulmonic stenosis. (19083348)
2006
48
Prospective evaluation of the balloon-to-annulus ratio for valvuloplasty in the treatment of pulmonic stenosis in the dog. (16955810)
2006
49
Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis. (16944981)
2006
50
Subvalvular pulmonic stenosis. (17063954)
2006

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 158)
idSuper pathwaysScoreTop Affiliating Genes
19.9BRAF, MAP2K1
29.8MAP2K1, MAP2K2
39.8MAP2K1, MAP2K2
49.8MAP2K2, RAF1
59.7HRAS, RAF1
69.6HRAS, KRAS
79.6HRAS, KRAS
8
Show member pathways
9.6BRAF, MAP2K1, RAF1
99.6BRAF, MAP2K1, RAF1
109.6BRAF, MAP2K1, RAF1
119.5BRAF, MAP2K1, MAP2K2
129.5BRAF, KRAS, MAP2K1
13
Show member pathways
9.5MAP2K1, MAP2K2, RAF1
149.5MAP2K1, MAP2K2, RAF1
159.5MAP2K1, MAP2K2, RAF1
169.5MAP2K1, MAP2K2, RAF1
17
Show member pathways
9.5MAP2K1, MAP2K2, RAF1
189.5MAP2K1, MAP2K2, RAF1
199.5BRAF, KRAS, RAF1
20
Show member pathways
9.5MAP2K1, MAP2K2, PTPN11
21
Show member pathways
9.5MAP2K1, MAP2K2, PTPN11
22
Show member pathways
9.4HRAS, MAP2K1, RAF1
23
Show member pathways
9.4HRAS, KRAS, NF1
249.4HRAS, PTPN11, RAF1
259.3HRAS, MAP2K2, RAF1
269.3HRAS, KRAS, RAF1
279.3HRAS, KRAS, RAF1
289.3HRAS, KRAS, RAF1
29
Show member pathways
9.2BRAF, MAP2K1, MAP2K2, RAF1
30
Show member pathways
9.2BRAF, MAP2K1, MAP2K2, RAF1
31
Show member pathways
9.2BRAF, MAP2K1, MAP2K2, RAF1
32
Show member pathways
9.2BRAF, MAP2K1, MAP2K2, RAF1
339.2BRAF, MAP2K1, MAP2K2, RAF1
34
Show member pathways
9.2BRAF, KRAS, MAP2K1, RAF1
359.1BRAF, HRAS, MAP2K1, RAF1
369.1BRAF, KRAS, MAP2K1, MAP2K2
37
Show member pathways
9.1BRAF, HRAS, MAP2K1, MAP2K2
38
Show member pathways
9.1HRAS, MAP2K1, PTPN11, RAF1
399.0BRAF, HRAS, KRAS, MAP2K1
409.0HRAS, MAP2K1, MAP2K2, RAF1
41
Show member pathways
9.0HRAS, MAP2K1, MAP2K2, RAF1
42
Show member pathways
9.0HRAS, MAP2K1, MAP2K2, RAF1
439.0HRAS, MAP2K1, MAP2K2, RAF1
449.0HRAS, MAP2K1, MAP2K2, RAF1
45
Show member pathways
9.0HRAS, MAP2K1, MAP2K2, RAF1
46
Show member pathways
9.0HRAS, MAP2K1, MAP2K2, RAF1
47
Show member pathways
9.0HRAS, MAP2K1, MAP2K2, RAF1
48
Show member pathways
9.0HRAS, MAP2K1, MAP2K2, RAF1
499.0BRAF, HRAS, KRAS, RAF1
50
Show member pathways
9.0BRAF, HRAS, KRAS, PTPN11

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 32)
idNameGO IDScoreTop Affiliating Genes
1regulation of axon regenerationGO:004867910.6BRAF, MAP2K1
2Bergmann glial cell differentiationGO:006002010.6MAP2K1, PTPN11
3cerebellar cortex formationGO:002169710.6MAP2K1, PTPN11
4forebrain astrocyte developmentGO:002189710.6KRAS, NF1
5regulation of synaptic transmission, GABAergicGO:003222810.6KRAS, NF1
6neurotrophin TRK receptor signaling pathwayGO:004801110.6PTPN11, RAF1
7positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.6MAP2K1, MAP2K2
8proteolysis in other organismGO:003589710.6MAP2K1, MAP2K2
9regulation of early endosome to late endosome transportGO:200064110.6MAP2K1, MAP2K2
10regulation of Golgi inheritanceGO:009017010.6MAP2K1, MAP2K2
11regulation of stress-activated MAPK cascadeGO:003287210.6MAP2K1, MAP2K2
12cellular senescenceGO:009039810.5HRAS, MAP2K1
13placenta blood vessel developmentGO:006067410.4MAP2K1, NR2F2
14response to isolation stressGO:003590010.4HRAS, KRAS
15face developmentGO:006032410.4BRAF, MAP2K1, RAF1
16animal organ morphogenesisGO:000988710.3BRAF, HRAS, JAG1
17activation of MAPK activityGO:000018710.2MAP2K1, MAP2K2, PTPN11
18Ras protein signal transductionGO:000726510.1HRAS, KRAS, NF1
19regulation of long-term neuronal synaptic plasticityGO:004816910.1HRAS, KRAS, NF1
20negative regulation of neuron apoptotic processGO:004352410.1BRAF, HRAS, KRAS
21thymus developmentGO:004853810.1BRAF, MAP2K1, RAF1
22epidermal growth factor receptor signaling pathwayGO:000717310.0HRAS, KRAS, PTPN11
23heart developmentGO:000750710.0MAP2K1, NF1, PTPN11, RAF1
24thyroid gland developmentGO:003087810.0BRAF, MAP2K1, RAF1
25somatic stem cell population maintenanceGO:00350199.8BRAF, RAF1, ZIC3
26stimulatory C-type lectin receptor signaling pathwayGO:00022239.8HRAS, KRAS, RAF1
27positive regulation of gene expressionGO:00106289.8BRAF, HRAS, KRAS, MAP2K1
28negative regulation of cell proliferationGO:00082859.7HRAS, IGFBP7, MAP2K1, NF1, RAF1
29visual learningGO:00085429.5BRAF, KRAS, NF1
30positive regulation of ERK1 and ERK2 cascadeGO:00703749.2BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
31MAPK cascadeGO:00001658.9BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
32signal transductionGO:00071657.7BRAF, DTNA, HRAS, KRAS, MAP2K1, NF1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:000470910.7BRAF, RAF1
2mitogen-activated protein kinase kinase bindingGO:003143410.7BRAF, RAF1
3MAP kinase kinase activityGO:000470810.6MAP2K1, MAP2K2
4protein serine/threonine kinase activator activityGO:004353910.2MAP2K1, MAP2K2
5small GTPase bindingGO:00312679.9BRAF, RAF1
6nucleotide bindingGO:00001669.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, RAF1
7protein bindingGO:00055155.7BRAF, DTNA, HRAS, IGFBP7, JAG1, KRAS

Sources for Pulmonic Stenosis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet