MCID: WBR001
MIFTS: 41

Weber Syndrome malady

Category: Rare diseases

Aliases & Classifications for Weber Syndrome

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Aliases & Descriptions for Weber Syndrome:

Name: Weber Syndrome 48 68
 
Midbrain Stroke Syndromes 48

Classifications:



Summaries for Weber Syndrome

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MalaCards based summary: Weber Syndrome, also known as midbrain stroke syndromes, is related to hypomelanosis of ito and parkes weber syndrome. An important gene associated with Weber Syndrome is ENG (Endoglin), and among its related pathways are Oncogenic MAPK signaling and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include brain, skin and spinal cord, and related mouse phenotypes are craniofacial and digestive/alimentary.

Related Diseases for Weber Syndrome

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Diseases related to Weber Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 174)
idRelated DiseaseScoreTop Affiliating Genes
1hypomelanosis of ito29.3FLT4, GLMN
2parkes weber syndrome12.3
3sturge-weber syndrome, somatic, mosaic12.3
4klippel-trenaunay-weber syndrome12.3
5parkes weber syndrome, rasa1-related11.7
6hemimegalencephaly11.1
7heterochromia iridis11.1
8telangiectasia, hereditary hemorrhagic, type 110.9
9clove syndrome, somatic10.8
10capillary malformation-arteriovenous malformation10.8
11moyamoya disease10.8
12hemihyperplasia, isolated10.8
13telangiectasia, hereditary hemorrhagic, type 310.7
14telangiectasia, hereditary hemorrhagic, type 210.7
15mental retardation syndrome, mietens-weber type10.7
16acvrl1-related hereditary hemorrhagic telangiectasia10.7
17eng-related hereditary hemorrhagic telangiectasia10.7
18angioosteohypertrophic syndrome10.7
19pulmonary surfactant protein b, deficiency of10.3ACVRL1, ENG
20choroiditis10.3
21hemangioma10.2
22cerebritis10.2
23pulmonary venoocclusive disease 110.2ACVRL1, ENG
24tooth erosion10.2ACVRL1, ENG, SST
25pituitary infarct10.2ACVRL1, ENG, RASA1
26x-linked leigh syndrome10.2ACVRL1, ENG
27angiomatosis10.2
28pelvic organ prolapse 210.1GNAQ, LIFR
29respiratory syncytial virus infectious disease10.1ACVRL1, ENG, SOX18
30epilepsy10.1
31melanoma, cutaneous malignant, 610.1AGGF1, GLMN, RASA1
32retinitis10.0
33chondrodysplasia punctata 1, x-linked10.0CCM2, KRIT1, PDCD10
34retinitis pigmentosa 6810.0CCM2, KRIT1, PDCD10
35pineal parenchymal tumor of intermediate differentiation10.0CCM2, KRIT1, PDCD10
36chronic pain10.0CCM2, KRIT1, PDCD10
37arteriovenous malformation10.0
38cerebellar astrocytoma10.0CCM2, KRIT1, PDCD10
39charcot-marie-tooth disease, axonal, type 2f10.0CCM2, KRIT1, PDCD10
40coronary artery dissection, spontaneous10.0FOXC2, SOX18, SST
41pallister-hall syndrome10.0CCM2, KRIT1, PDCD10
42myasthenic syndrome, congenital, 15, without tubular aggregates10.0GLMN, KRIT1
43periodontitis10.0
44arteriovenous fistula9.9
45retinal detachment9.9
46hereditary hemorrhagic telangiectasia9.9
47pilomyxoid astrocytoma9.9FLT4, GLMN
48tuberous sclerosis9.9
49aneurysm9.9
50central cervical cord syndrome9.9FLT4, GLMN, GNAQ

Graphical network of the top 20 diseases related to Weber Syndrome:



Diseases related to weber syndrome

Symptoms & Phenotypes for Weber Syndrome

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MGI Mouse Phenotypes related to Weber Syndrome according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8ACVRL1, CCM2, ENG, FN1, FOXC2, GNAQ
2MP:00053818.6ACVRL1, ENG, FLT4, FOXC2, RASA1, SOX18
3MP:00107718.2CCM2, ENG, FLT4, FN1, GNAQ, KRIT1
4MP:00053697.5ACVRL1, CCM2, ENG, FLT4, FN1, FOXC2
5MP:00053877.3CCM2, FLT4, FN1, FOXC2, GNAQ, LIFR
6MP:00028736.7ACVRL1, CCM2, ENG, FLT4, FN1, FOXC2
7MP:00053766.7ACVRL1, CCM2, CYP1B1, ENG, FLT4, FN1
8MP:00036316.6ACVRL1, AGGF1, CCM2, ENG, FN1, FOXC2
9MP:00053806.4ACVRL1, AGGF1, CCM2, ENG, FLT4, FN1
10MP:00053856.3ACVRL1, AGGF1, CCM2, ENG, FLT4, FN1
11MP:00053785.9ACVRL1, CCM2, ENG, FLT4, FN1, FOXC2
12MP:00107685.5ACVRL1, AGGF1, CCM2, ENG, FLT4, FN1

Drugs & Therapeutics for Weber Syndrome

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Drugs for Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
protease inhibitorsPhase 45471
Synonyms:
 
protease inhibitors
2Anti-HIV AgentsPhase 43162
3HIV Protease InhibitorsPhase 45470
4Atazanavir SulfatePhase 4223
5Anti-Infective AgentsPhase 4, Phase 2, Phase 322062
6Anti-Retroviral AgentsPhase 43296
7Antiviral AgentsPhase 49967
8
EverolimusapprovedPhase 2, Phase 31940159351-69-66442177
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
9
Sirolimusapproved, investigationalPhase 2, Phase 3194053123-88-95284616, 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
10
Tranexamic AcidapprovedPhase 32771197-18-85526
Synonyms:
08455_FLUKA
1197-17-7
1197-18-8
1ceb
3-14-00-00868 (Beilstein Handbook Reference)
4-(Aminomethyl)-Cyclohexanecarboxylic Acid
4-(Aminomethyl)cyclohexanecarboxylic acid
4-(aminomethyl)cyclohexane-1-carboxylic acid
857653_ALDRICH
A0236
AB00052260
AB1003647
AC-4687
AC1L1KJH
AC1Q50F3
AC1Q546D
AC1Q5U04
ALBB-006013
AMCA
AMCHA
AMH
AR-1F6595
Acide tranexamique
Acide tranexamique [INN-French]
Acido tranexamico
Acido tranexamico [INN-Spanish]
Acidum tranexamicum
Acidum tranexamicum [INN-Latin]
Amikapron
Amstat
Anvitoff
BAY 3517
BPBio1_000069
BRN 2207452
BSPBio_000061
BSPBio_002837
CAS-1197-18-8
CHEBI:48669
CHEMBL292500
CHEMBL877
CID5526
CL 65336
CL-65336
Carxamin
Cyclocapron
Cyklokapron
Cyklokapron (TN)
D01136
DB00302
DV 79
DV-79
DV79
DivK1c_000655
EINECS 214-818-2
Emorhalt
Exacyl
Frenolyse
HMS1568D03
HMS1921F08
HMS2092P03
HMS502A17
Hexapromin
Hexatron
I04-0993
IDI1_000655
KABI 2161
KBio1_000655
KBio2_001871
KBio2_004439
KBio2_007007
KBio3_002337
KBioGR_000511
 
KBioSS_001871
LS-56611
LS-56612
LT00159441
Mastop
MolPort-001-792-390
MolPort-002-512-008
NCGC00016569-01
NCGC00016569-02
NCGC00016569-03
NCGC00094944-01
NCGC00094944-02
NINDS_000655
NSC 291305
NSC291305
Oprea1_786414
Prestwick0_000171
Prestwick1_000171
Prestwick2_000171
Prestwick3_000171
Prestwick_476
RP 18,429
Rikavarin
Rikavarin (TN)
Rikavarin-S
SPBio_000689
SPBio_001982
SPECTRUM1502026
STK503668
STOCK1N-16183
Spectrum2_000655
Spectrum3_001189
Spectrum4_000046
Spectrum5_001258
Spectrum_001391
Spiramin
Tamcha
Tranex
Tranexamate
Tranexamic acid (JP15/USAN/INN)
Tranexamic acid [USAN:INN:BAN:JAN]
Tranexamic acid cis-form
Tranexamsaeure
Tranexan
Tranexmic acid
Tranhexamic acid
Trans AMCHA
Trans-1-(Aminomethyl)cyclohexane-4-carboxylic acid
Trans-4-(Aminomethyl)-1-cyclohexanecarboxylic acid
Trans-p-(Aminomethyl)cyclohexanecarboxylic
Transamin
Transamin (TN)
Transamlon
Trasamlon
UNII-6T84R30KC1
Ugurol
WLN: L6TJ AVQ D1Z -T
cis-4-(Aminomethyl)cyclohexanecarboxylic acid
cis-4-Aminomethylcyclohexane-1-carboxylic acid
cis-AMCHA
t-AMCHA
tranexamic acid
tranexmic acid
trans-1-Aminomethylcyclohexane-4-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-1-carboxylic acid
trans-4-(Aminomethyl)cyclohexane-carboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid
trans-4-(Aminomethyl)cyclohexanecarboxylic acid ester
trans-4-Aminomethylcyclohexane-1-carboxylic acid
trans-4-aminomethylcyclohexane-1-carboxylic acid
trans-Amcha
trans-Tranexamic acid
trans-p-(Aminomethyl)cyclohexanecarboxylic acid
11
Miconazoleapproved, investigational, vet_approvedPhase 2, Phase 3370622916-47-84189
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
12HemostaticsPhase 31443
13Antifungal AgentsPhase 2, Phase 33696
14CoagulantsPhase 31500
15Antifibrinolytic AgentsPhase 3484
16Gastrointestinal AgentsPhase 38402
17Antibiotics, AntitubercularPhase 2, Phase 37180
18Immunosuppressive AgentsPhase 2, Phase 313086
19Anti-Bacterial AgentsPhase 2, Phase 311226
20
SerotoninPhase 3362750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
21Serotonin AgentsPhase 33156
22Serotonin AntagonistsPhase 31409
23Neurotransmitter AgentsPhase 3, Phase 118340
24Pharmaceutical SolutionsPhase 2, Phase 3, Phase 18192
25Angiogenesis Modulating AgentsPhase 24185
26AnticonvulsantsPhase 1, Phase 22695
27Angiogenesis InhibitorsPhase 24257
28
Decitabineapproved, investigationalPhase 12442353-33-5451668
Synonyms:
-Deoxycytidine
-azacytidine
2'-Deoxy-5-azacytidine
2353-33-5
4-Amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-s-triazin-2(1H)-one
4-Amino-1-(2-deoxy-beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-amino-1-(2-Deoxy-beta-D-erythro-pentofuranosyl)-S-triazin-2(1H)-one
4-amino-1-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
5-AZAdC
5-Aza-2&prime
5-Aza-2'-deoxycytidine
5-Azadeoxycytidine
5-Deoxy-2&prime
5-aza-2'-deoxycytidine
5-aza-2-deoxycytidine
5-aza-CdR
5-aza-dC
5A2dc
A3656_SIGMA
AC-1135
AC1L9PS9
AzadC
 
Azadc
CHEBI:50131
CHEMBL1201129
CID451668
D03665
DB01262
Dacogen
Dacogen (TN)
Dacogen, 5-aza-2'-deoxycytidine,NSC 127716, Dacogen, DAC, Decitabine
Decitabine
Decitabine (USAN/INN)
Dezocitidine
E-7373
FT-0082622
MLS001332587
MLS001332588
MolMap_000063
NCGC_5ADOC
NSC-127716
NSC127716
S1200_Selleck
SBB066121
SMR000857076
TL8001944
29
Azacitidineapproved, investigationalPhase 1529320-67-29444
Synonyms:
2-(beta-D-Ribofuranosyl)-4-amino-1,3,5-triazin-2-one
320-67-2
4-Amino-1-(beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-traizin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-1,3,5-triazine-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-S-triazin-2(1H)-one
4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one
4-Amino-1-beta-d-ribofuranosyl-1,3,5-triazin-2(1H)-one
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triaz
4-amino-1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
4-amino-1-beta-L-ribofuranosyl-1,3,5-triazin-2(1H)-one
5 AZC
5 Azacytidine
5-AC
5-AZAC
5-AZCR
5-Azacytidine
5-aza-CR
5-azacitidine
5-azacytidine
5-azacytidine, Mylosar, Ladakamycin, Vidaza, Azacitidine
5AzaC
A 2385
A1287_SIGMA
A2385_SIGMA
AC1L1T1Y
Antibiotic U 18496
Azacitidina
Azacitidina [INN-Spanish]
Azacitidine
Azacitidine (JAN/USAN/INN)
Azacitidine [USAN:INN]
Azacitidinum
Azacitidinum [INN-Latin]
Azacytidine
BCBcMAP01_000083
BRN 0620461
BSPBio_003157
C11262
CCRIS 60
CHEBI:2038
CHEMBL1489
CID9444
CPD000857239
D001374
D03021
DB00928
DivK1c_000125
EINECS 206-280-2
EU-0100035
FT-0081170
HMS1921J22
HMS2092D08
HMS500G07
HSDB 6879
IDI1_000125
InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1
 
Jsp005945
KBio1_000125
KBio2_001742
KBio2_002556
KBio2_004310
KBio2_005124
KBio2_006878
KBio2_007692
KBio3_002657
KBio3_003034
KBioGR_001444
KBioGR_002556
KBioSS_001742
KBioSS_002565
LS-1189
Ladakamycin
Lopac0_000035
MLS001333121
MLS001333122
MLS002153249
MolMap_000062
Mylosar
NCGC00090851-01
NCGC00090851-02
NCGC00090851-03
NCGC00090851-04
NCGC00090851-08
NCGC00178234-01
NCI-C01569
NINDS_000125
NS-17
NSC 102816
NSC-102816
NSC102816
Pharmion Brand of Azacitidine
S1782_Selleck
SAM002264595
SMR000857239
SPBio_000892
SPECTRUM1502111
ST056940
Spectrum2_000786
Spectrum3_001509
Spectrum4_000922
Spectrum5_001166
Spectrum_001262
TL80073599
U 18496
U-18496
UNII-M801H13NRU
Vidaza
Vidaza (TN)
WR-183027
ZINC03861768
cMAP_000082
mylo sar
pyrimidine antimetabolite: inhibits nucleic acid replication
s-Triazin-2(1H)-one, 4-amino-1-beta-D-ribofuranosyl- (8CI)
wr 183027
30
TimololapprovedPhase 125226839-75-833624, 5478
Synonyms:
(-)-3-Morpholino-4-(3-tert-butylamino-2-hydroxypropoxy)-1,2,5-thiadiazole
(2S)-1-((1,1-dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol
(2S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(2S)-1-[(1,1-dimethylethyl)amino]-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(S)-1-(1,1-(Dimethylethyl)amino)-3-((4-(4-morpholinyl)-1,2,5-thiadiazol-3-yl)oxy)-2-propanol
(S)-1-(tert-Butylamino)-3-((4-morpholino-1,2,5-thiadiazol-3-yl)oxy)propan-2-ol
(S)-1-(tert-butylamino)-3-[(4-morpholin-4-yl-1,2,5-thiadiazol-3-yl)oxy]propan-2-ol
(S)-timolol
131628-37-0
194288-09-0
26839-75-8
26921-17-5 (maleate (1:1) salt)
AB00513729
AC1L1PYN
AC1Q59QM
Apo-Timol
Apo-Timop
Aquanil
BIDD:GT0073
BPBio1_001008
BRD-K08806317-050-03-6
BSPBio_000916
Betim
Betimol
Betimol (TN)
Blocadren
C07141
C13H24N4O3S
CAS-26921-17-5
CHEBI:9599
CHEMBL499
CID33624
CPD001456519
D08600
DB00373
DB08625
EINECS 248-032-6
HMS2089I11
HSDB 6533
Istalol
L-714,465
LS-122231
Lopac-T-6394
Lopac0_001189
MK-950
NCGC00016038-01
 
NCGC00016038-02
NCGC00016798-01
NCGC00016798-07
NCGC00022033-02
NCGC00022033-04
NCGC00022033-05
Novo-Timol
Nu-Timolol
Oprea1_640981
Optimol
Phoxal-timolol
Prestwick0_000948
Prestwick1_000948
Prestwick2_000948
Prestwick3_000948
Proflax
S(-)-Timolol maleate
S-(-)-3-(3-tert-Butylamino-2-hydroxypropoxy)-4-morpholino-1,2,5-thiadiazole
SAM002564238
SPBio_003075
ST072193
TIM
Temserin
Tenopt
Tim-AK
Timacar
Timacor
Timolol
Timolol (INN)
Timolol (TN)
Timolol GFS
Timolol Maleate, (1:1) Salt
Timolol [USAN]
Timolol anhydrous
Timolol maleate
Timololo
Timololum
Timololum [INN-Latin]
Timopic
Timoptic
Timoptic OcuDose
Timoptic in Ocudose
Timoptic-XE
Timoptol
Tocris-0649
UNII-817W3C6175
timolol
31
Maleic acidexperimentalPhase 1296110-16-7444266
Synonyms:
(2Z)-2-Butenedioate
(2Z)-2-Butenedioic acid
(2Z)-Butene-2-dioate
(2Z)-Butene-2-dioic acid
(2Z)-but-2-enedioate
(2Z)-but-2-enedioic acid
(Z)-2-Butenedioate
(Z)-2-Butenedioic acid
(z)-butenedioate
(z)-butenedioic acid
2-Butenedioate
2-Butenedioic acid
Cis-butenedioate
Cis-butenedioic acid
 
H2male
Kyselina maleinova
MAE
Maleate
Maleic acid
Maleic acid [NA2215]
Maleinic acid
Malenic acid
Malezid CM
Scotchbond multipurpose etchant
Toxilic acid
cis-1,2-Ethylenedicarboxylic acid
cis-2-Butenedioate
cis-2-Butenedioic acid
cis-But-2-enedioate
cis-But-2-enedioic acid
32AntimetabolitesPhase 112054
33Antimetabolites, AntineoplasticPhase 17361
34Ophthalmic SolutionsPhase 11140
35TetrahydrozolinePhase 1621
36Adrenergic AntagonistsPhase 11573
37Adrenergic AgentsPhase 15352
38Lubricant Eye DropsPhase 1168
39Anti-Arrhythmia AgentsPhase 13093
40Adrenergic beta-AntagonistsPhase 11193
41Antihypertensive AgentsPhase 14207
42Immunoglobulins6394
43Antibodies6394
44GTPase-Activating Proteins1

Interventional clinical trials:

(show all 41)
idNameStatusNCT IDPhase
1A Prospective Randomized Study Comparing Radiofrequency Energy With CryoenergyUnknown statusNCT00773539Phase 4
2Effect of Atazanavir on Endothelial Function in HIV-Infected PatientsCompletedNCT00447070Phase 4
3Treatment of Predominant Central Sleep Apnoea by Adaptive Servo Ventilation in Patients With Heart FailureCompletedNCT00733343Phase 4
4Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT)CompletedNCT01031992Phase 3
5Study In Women With Severe Diarrhea-Predominant Irritable Bowel Syndrome Having Failed Conventional TherapyCompletedNCT00067457Phase 3
6Randomized Controlled Trial of Stress Management Training in HIVCompletedNCT00436085Phase 3
7Trial of Sirolimus for Cognitive Impairment in Sturge-Weber SyndromeRecruitingNCT03047980Phase 2, Phase 3
8Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber SyndromeCompletedNCT02080624Phase 2
9Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyRecruitingNCT03016715Phase 2
10Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) StudyRecruitingNCT02960997Phase 2
11Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber SyndromeActive, not recruitingNCT02332655Phase 1, Phase 2
12Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic TelangiectasiaActive, not recruitingNCT01485224Phase 2
13Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)WithdrawnNCT01997255Phase 2
14Use of the Atkins Diet for Children With Sturge Weber SyndromeCompletedNCT00639730Phase 1
15Decitabine in Treating Patients With Melanoma or Other Advanced CancerCompletedNCT00002980Phase 1
16Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical TimololRecruitingNCT01533376Phase 1
17Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian SyndromesUnknown statusNCT00368199Early Phase 1
18Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMsUnknown statusNCT00230672
19Study of Endothelial Cells in Patients With Hereditary Haemorrhagic TelangiectasiaUnknown statusNCT00733629
20Studies of White Blood Cells Derived From HHT PatientsUnknown statusNCT00230633
21Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract SurgeryUnknown statusNCT01778959
22Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory StudyUnknown statusNCT02155478
23Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)CompletedNCT00610402
24Biomarker Development in Sturge-Weber SyndromeCompletedNCT01345305
25Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
26Pulsatile and Steady State Hemodynamics in Diastolic Heart FailureCompletedNCT00720525
27Extrapulmonary Interventional Ventilatory Support in Severe Acute Respiratory Distress Syndrome (ARDS)CompletedNCT00538928
28Nerve Changes in Patients Who Are Undergoing Chemotherapy or Biological Therapy for CancerCompletedNCT00281853
29Studies of Hereditary Hemorrhagic TelangiectasiaCompletedNCT00004648
30Innovative Approaches to Gauge Progression of Sturge-Weber SyndromeRecruitingNCT01425944
31Immunmodulation in Patients With HHTRecruitingNCT02983253
32Symptoms and Treatment Results in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT02690246
33Institutional Registry of Haemorrhagic Hereditary TelangiectasiaRecruitingNCT01761981
34Lymphatic Anomalies RegistryRecruitingNCT02399527
35Pupillometry in Horner's SyndromeRecruitingNCT02978079
36Measuring Energy Expenditure in ECMO (Extracorporeal Membrane Oxygenation) PatientsRecruitingNCT01992237
37Genetic Determinants of Congenital Heart Disease OutcomesRecruitingNCT01656941
38Improving Adherence Among HIV+ Rwandan Youth: A TI-CBTe Indigenous Leader ModelRecruitingNCT02464423
39Surviving ARDS: The Influence of Quality of Care and Individual Patient Characteristics on Quality of LifeRecruitingNCT02637011
40French National Cohort of Children With Port Wine StainActive, not recruitingNCT01364857
41Study of Histological Samples From Patients With Hereditary Haemorrhagic TelangiectasiaActive, not recruitingNCT00733655

Search NIH Clinical Center for Weber Syndrome

Genetic Tests for Weber Syndrome

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Anatomical Context for Weber Syndrome

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MalaCards organs/tissues related to Weber Syndrome:

36
Brain, Skin, Spinal cord, Thalamus, Thyroid, Testis, Occipital lobe

Publications for Weber Syndrome

About this section

Articles related to Weber Syndrome:

(show top 50)    (show all 775)
idTitleAuthorsYear
1
Growing skull hemangioma: first and unique description in a patient with Klippel-TrAcnaunay-Weber syndrome. (27822901)
2017
2
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. (28064423)
2017
3
Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. (28079102)
2017
4
Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. (27903813)
2017
5
Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome. (27864521)
2017
6
Imaging of Glutamate Concentration in Sturge-Weber Syndrome. (28070151)
2017
7
Fosphenytoin-induced dyskinesias in an infant with Sturge-Weber syndrome. (27164450)
2016
8
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. (27511883)
2016
9
Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. (27257371)
2016
10
Alarming Skin Tatoo with Periodontal Link: Sturge Weber Syndrome. (27437380)
2016
11
Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort. (27238857)
2016
12
The Advantage of Synthetic MRI for the Visualization of Early White Matter Change in an Infant with Sturge-Weber Syndrome. (27001386)
2016
13
Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables. (26964511)
2016
14
Sturge Weber Syndrome: An Unusual Case with Multisystem Manifestations. (27222632)
2016
15
Hemiplegia Following Mild Head Injury in a Child with Sturge-Weber Syndrome - A Diagnostic Dilemma. (27539768)
2016
16
Spectral Domain Optical Coherence Tomography of Choroidal and Outer Retinal Layer Thickness in the Sturge Weber Syndrome. (27159379)
2016
17
Verteporfin photodynamic therapy for the treatment of choroidal haemangioma associated with Sturge-Weber syndrome. (27375184)
2016
18
Chronic foot ulcer caused by Parkes Weber syndrome. (27197605)
2016
19
A rare case of worsening of Parkes-Weber syndrome with development of POEMS syndrome. (27649853)
2016
20
Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. (27274162)
2016
21
Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation). (27707981)
2016
22
Imaging increased glutamate in children with Sturge-Weber syndrome: Association with epilepsy severity. (26970949)
2016
23
Predicting and Preventing Epilepsy in Sturge-Weber Syndrome? (27909387)
2016
24
Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report. (27015132)
2016
25
Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells inA Sturge-Weber Syndrome. (27919468)
2016
26
Sturge-Weber syndrome with intracerebral hemorrhage: a case report. (27795889)
2016
27
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. (27019697)
2016
28
Predictive Factors for Epilepsy in Pediatric Patients With Sturge-Weber Syndrome. (27637568)
2016
29
Analysis of Epileptic Discharges from Implanted Subdural Electrodes in Patients with Sturge-Weber Syndrome. (27054715)
2016
30
Nodular Proliferation in Parkes Weber Syndrome. (27575310)
2016
31
Anticonvulsant Efficacy in Sturge-Weber Syndrome. (26997037)
2016
32
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. (27141435)
2016
33
Pancytopenia in a Patient with Rendu-Osler-Weber Syndrome and Uncommon Vascular Abnormalities. (27803822)
2016
34
Sturge-Weber syndrome type 3 manifesting as 'Status migrainosus'. (27993821)
2016
35
Vertical parasagittal hemispherotomy for Sturge-Weber syndrome in early infancy: case report and literature review. (27652010)
2016
36
Predictors of Cognitive Functions in Children With Sturge-Weber Syndrome: A Longitudinal Study. (27353695)
2016
37
A Cerebral Infarction in a Girl With Sturge-Weber Syndrome. (27663490)
2016
38
Reconstruction of the Large Face and Scalp Defects of a Patient with Sturge-Weber Syndrome. (27248033)
2016
39
Combination of Sturge-Weber Syndrome and Trigonocephaly. (27557468)
2016
40
A rare type of congenital Sturge-Weber Syndrome: presenting with history of perinatal asphyxia. (27525070)
2016
41
Correction of Facial Deformity in Sturge-Weber Syndrome. (27622111)
2016
42
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. (26957145)
2016
43
Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. (26437284)
2015
44
Teaching NeuroImages: Dyke-Davidoff-Masson in Sturge-Weber syndrome. (26481933)
2015
45
Angiomatous meningioma in Sturge-Weber syndrome. (25766367)
2015
46
Sturge-Weber syndrome: oral and extra-oral manifestations. (25766438)
2015
47
Rat Model of Parkes Weber Syndrome. (26217941)
2015
48
Phakomatosis pigmentovascularis Type IIb, Sturge- Weber syndrome and cone shaped tongue: An unusual association. (26515844)
2015
49
A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. (25592619)
2015
50
Surgery can get favorable outcome in atypical sturge-weber syndrome with intractable epilepsy. (25723661)
2015

Variations for Weber Syndrome

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Expression for genes affiliated with Weber Syndrome

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Search GEO for disease gene expression data for Weber Syndrome.

Pathways for genes affiliated with Weber Syndrome

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Pathways related to Weber Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7AGGF1, FN1, RASA1
29.4FLT4, FN1

GO Terms for genes affiliated with Weber Syndrome

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Cellular components related to Weber Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor complexGO:00432358.9ENG, FLT4, LIFR

Biological processes related to Weber Syndrome according to GeneCards Suite gene sharing:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1dorsal aorta morphogenesisGO:003591210.7ACVRL1, ENG
2endocardial cushion morphogenesisGO:000320310.7ACVRL1, ENG
3endocardial cushion to mesenchymal transitionGO:009050010.7ACVRL1, ENG
4endothelial tube morphogenesisGO:006115410.6ACVRL1, CCM2
5retina vasculature development in camera-type eyeGO:006129810.5ACVRL1, CYP1B1
6lymphatic endothelial cell differentiationGO:006083610.5ACVRL1, SOX18
7negative regulation of cell migrationGO:003033610.4ACVRL1, CYP1B1, ENG
8negative regulation of endothelial cell migrationGO:001059610.4ACVRL1, KRIT1
9artery morphogenesisGO:004884410.3ENG, FOXC2
10embryonic heart tube developmentGO:003505010.2FOXC2, SOX18
11positive regulation of angiogenesisGO:004576610.1ACVRL1, AGGF1, CYP1B1, ENG
12sprouting angiogenesisGO:000204010.0ENG, FLT4
13positive regulation of vascular endothelial growth factor productionGO:00105759.9CYP1B1, FLT4
14venous blood vessel morphogenesisGO:00488459.9CCM2, ENG
15positive regulation of endothelial cell proliferationGO:00019389.7ACVRL1, AGGF1, FLT4
16blood vessel morphogenesisGO:00485149.6ACVRL1, CYP1B1, FLT4, RASA1
17vasculature developmentGO:00019449.4CCM2, FLT4, SOX18
18heart developmentGO:00075079.4CCM2, ENG, FOXC2, GNAQ, SOX18
19lymph vessel developmentGO:00019459.3FLT4, FOXC2, SOX18
20lymphangiogenesisGO:00019469.1ACVRL1, FLT4, FOXC2, SOX18
21vasculogenesisGO:00015708.7AGGF1, CCM2, ENG, GLMN, RASA1, SOX18
22angiogenesisGO:00015257.8ACVRL1, AGGF1, CYP1B1, ENG, FLT4, FN1

Molecular functions related to Weber Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:004818510.4ACVRL1, ENG
2transforming growth factor beta bindingGO:005043110.0ACVRL1, ENG

Sources for Weber Syndrome

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