MCID: STR079
MIFTS: 38

Sturge-Weber Syndrome, Somatic, Mosaic malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Sturge-Weber Syndrome, Somatic, Mosaic

About this section
Sources:
49OMIM, 45NIH Rare Diseases, 22GeneTests, 46NINDS, 51Orphanet, 24GTR, 2CDC, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Sturge-Weber Syndrome, Somatic, Mosaic:

Name: Sturge-Weber Syndrome, Somatic, Mosaic 49 22
Sws 45 22 51 2 67
Sturge-Weber Syndrome 45 46 51 67
Encephalotrigeminal Angiomatosis 45 46 51
Sturge Weber Syndrome 45 22 24
Encephalofacial Angiomatosis 45 51
Sws Type Ii - Facial Angioma Alone, No Cns Involvement 45
Sws Type I - Facial and Leptomeningeal Angiomas 45
 
Sws Type Iii - Isolated Leptomeningeal Angiomas 45
Meningeal Capillary Angiomatosis 45
Sturge-Weber-Krabbe Angiomatosis 51
Sturge-Weber-Dimitri Syndrome 51
Sturge-Weber-Krabbe Syndrome 51
Leptomeningeal Angiomatosis 45
Stuve-Wiedemann Syndrome 65
Fourth Phacomatosis 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
sws:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age


External Ids:

OMIM49 185300
Orphanet51 3205
ICD10 via Orphanet28 Q85.8
MESH via Orphanet37 D013341
UMLS via Orphanet66 C0038505
MedGen34 C0038505
MeSH36 D013341

Summaries for Sturge-Weber Syndrome, Somatic, Mosaic

About this section
NIH Rare Diseases:45 Sturge-weber syndrome is a rare disorder that is present at birth. affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. people with sturge-weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. sturge-weber syndrome is caused by a mutation in the gnaq gene. the gene mutation is not inherited, but occurs by chance in cells of the developing embryo. last updated: 10/16/2013

MalaCards based summary: Sturge-Weber Syndrome, Somatic, Mosaic, also known as sws, is related to capillary malformations, congenital, 1, somatic, mosaic and weber syndrome, and has symptoms including seizures, glaucoma and optic atrophy. An important gene associated with Sturge-Weber Syndrome, Somatic, Mosaic is GNAQ (Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide). Affiliated tissues include parietal lobe, brain and bone.

OMIM:49 Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often... (185300) more...

CDC:2 CDC and the Safe Water System [2 pages]

NINDS:46 Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face.

UniProtKB/Swiss-Prot:67 Sturge-Weber syndrome: A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes.

Related Diseases for Sturge-Weber Syndrome, Somatic, Mosaic

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Diseases related to Sturge-Weber Syndrome, Somatic, Mosaic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1capillary malformations, congenital, 1, somatic, mosaic29.7CMC1, GNAQ, LIFR
2weber syndrome11.6
3choroiditis11.0
4hemangioma11.0
5angiomatosis10.9
6cerebritis10.9
7klippel-trenaunay-weber syndrome10.8
8retinitis10.8
9stroke, ischemic10.7
10parkes weber syndrome10.7
11child syndrome10.7
12brain ischemia10.7
13central nervous system hemangioma10.7
14cerebral angioma10.7
15brain angioma10.7
16brain cancer10.7
17brain stem cancer10.7
18brain stem infarction10.7
19central nervous system cancer10.7
20cerebrovascular disease10.7
21periodontitis10.7
22retinal detachment10.7
23vascular cancer10.7
24kid syndrome10.7
25angioosteohypertrophic syndrome10.7
26adult syndrome10.7
27vascular malformation10.7
28foster-kennedy syndrome10.6
29tuberous sclerosis10.6
30eye carcinoma10.6
31globe disease10.6
32optic nerve disease10.6
33seizure disorder10.6
34headache10.6
35phacomatosis pigmentovascularis10.5
36familial capillaro-venous leptomeningeal angiomatosis10.5
37fanconi anemia, complementation group c10.5
38spinal and bulbar muscular atrophy of kennedy10.5
39status epilepticus10.5
40arteriovenous malformation10.5
41capillary hemangioma10.5
42epilepsy syndrome10.5
43facial nerve disease10.5
44gingivitis10.5
45nervous system cancer10.5
46nervous system disease10.5
47skin hemangioma10.5
48neurologic diseases10.5
49hemiplegic migraine10.5
50pyogenic granuloma10.5

Graphical network of the top 20 diseases related to Sturge-Weber Syndrome, Somatic, Mosaic:



Diseases related to sturge-weber syndrome, somatic, mosaic

Symptoms for Sturge-Weber Syndrome, Somatic, Mosaic

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Symptoms by clinical synopsis from OMIM:

185300

Clinical features from OMIM:

185300

Symptoms:

 51 (show all 30)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • seizures/epilepsy/absences/spasms/status epilepticus
  • glaucoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cerebral vascular anomalies
  • transient cerebral ischemia/stroke
  • motor deficit/trouble
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperactivity/attention deficit
  • psychic/behavioural troubles
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • coloboma of iris
  • heterochromia/mixed colouring of iris
  • corneal dystrophy
  • conjunctival telangiectasia
  • choroidal anomalies/atrophy/choroideremia
  • retinal detachment
  • retinal vascular anomalies/retinal telangiectasia
  • visual loss/blindness/amblyopia
  • thickened/hypertrophic/fibromatous gingivae
  • anomalies of ear and hearing
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hydrocephaly
  • arnold-chiari anomaly
  • intracranial/cerebral calcifications
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autism/autistic disoders
  • bone tumefaction/swelling

HPO human phenotypes related to Sturge-Weber Syndrome, Somatic, Mosaic:

(show all 34)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 glaucoma typical (50%) HP:0000501
3 optic atrophy typical (50%) HP:0000648
4 hyperreflexia typical (50%) HP:0001347
5 cerebral ischemia typical (50%) HP:0002637
6 attention deficit hyperactivity disorder typical (50%) HP:0007018
7 cognitive impairment typical (50%) HP:0100543
8 gingival overgrowth occasional (7.5%) HP:0000212
9 hydrocephalus occasional (7.5%) HP:0000238
10 macrocephaly occasional (7.5%) HP:0000256
11 hearing abnormality occasional (7.5%) HP:0000364
12 visual impairment occasional (7.5%) HP:0000505
13 conjunctival telangiectasia occasional (7.5%) HP:0000524
14 retinal detachment occasional (7.5%) HP:0000541
15 iris coloboma occasional (7.5%) HP:0000612
16 autism occasional (7.5%) HP:0000717
17 heterochromia iridis occasional (7.5%) HP:0001100
18 corneal dystrophy occasional (7.5%) HP:0001131
19 choroideremia occasional (7.5%) HP:0001139
20 cerebral cortical atrophy occasional (7.5%) HP:0002120
21 neurological speech impairment occasional (7.5%) HP:0002167
22 arnold-chiari malformation occasional (7.5%) HP:0002308
23 cerebral calcification occasional (7.5%) HP:0002514
24 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
25 feeding difficulties in infancy occasional (7.5%) HP:0008872
26 macrocephaly HP:0000256
27 facial hemangioma HP:0000329
28 buphthalmos HP:0000557
29 intellectual disability HP:0001249
30 seizures HP:0001250
31 cerebral cortical atrophy HP:0002120
32 sporadic HP:0003745
33 choroidal hemangioma HP:0007872
34 arachnoid hemangiomatosis HP:0012222

Drugs & Therapeutics for Sturge-Weber Syndrome, Somatic, Mosaic

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tranexamic AcidapprovedPhase 31991197-18-85526
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
Lysteda
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
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
2CoagulantsPhase 3983
3
Sirolimusapproved, investigationalPhase 2174253123-88-95284616, 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
Miconazoleapproved, investigationalPhase 2291222916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
5
EverolimusapprovedPhase 21742159351-69-66442177
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
Afinitor Disperz
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
VOTUBIA
Zortress
everolimus
6
TimololapprovedPhase 122626839-75-833624, 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
Timolol Maleate, (1:1) Salt
Timolol [USAN]
Timolol hemihydrate
Timolol maleate
Timololo
Timololum
Timololum [INN-Latin]
Timopic
Timoptic
Timoptic OcuDose
Timoptic in Ocudose
Timoptic-XE
Timoptic-xe
Timoptol
Tocris-0649
UNII-817W3C6175
timolol
7
Maleic acidexperimentalPhase 1262110-16-7444972, 444266
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
8GTPase-Activating Proteins1

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT)CompletedNCT01031992Phase 3
2Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber SyndromeCompletedNCT02080624Phase 2
3Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)RecruitingNCT01997255Phase 2
4Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber SyndromeActive, not recruitingNCT02332655Phase 1, Phase 2
5Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic TelangiectasiaActive, not recruitingNCT01485224Phase 2
6Use of the Atkins Diet for Children With Sturge Weber SyndromeCompletedNCT00639730Phase 1
7Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical TimololRecruitingNCT01533376Phase 1
8Biomarker Development in Sturge-Weber SyndromeCompletedNCT01345305
9Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)CompletedNCT00610402
10Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
11Innovative Approaches to Gauge Progression of Sturge-Weber SyndromeRecruitingNCT01425944
12Institutional Registry of Haemorrhagic Hereditary TelangiectasiaRecruitingNCT01761981
13Symptoms and Treatment Results in Hereditary Hemorrhagic TelangiectasiaRecruitingNCT02690246
14Lymphatic Anomalies RegistryRecruitingNCT02399527
15French National Cohort of Children With Port Wine StainActive, not recruitingNCT01364857

Search NIH Clinical Center for Sturge-Weber Syndrome, Somatic, Mosaic

Genetic Tests for Sturge-Weber Syndrome, Somatic, Mosaic

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Genetic tests related to Sturge-Weber Syndrome, Somatic, Mosaic:

id Genetic test Affiliating Genes
1 Sturge-Weber Syndrome22 24
2 Sturge-Weber Syndrome, Somatic Mosaic22 GNAQ

Anatomical Context for Sturge-Weber Syndrome, Somatic, Mosaic

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MalaCards organs/tissues related to Sturge-Weber Syndrome, Somatic, Mosaic:

33
Parietal lobe, Brain, Bone, Skin, Eye

Animal Models for Sturge-Weber Syndrome, Somatic, Mosaic or affiliated genes

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Publications for Sturge-Weber Syndrome, Somatic, Mosaic

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Variations for Sturge-Weber Syndrome, Somatic, Mosaic

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UniProtKB/Swiss-Prot genetic disease variations for Sturge-Weber Syndrome, Somatic, Mosaic:

67
id Symbol AA change Variation ID SNP ID
1GNAQp.Arg183GlnVAR_067270

Clinvar genetic disease variations for Sturge-Weber Syndrome, Somatic, Mosaic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GNAQNM_002072.4(GNAQ): c.548G> A (p.Arg183Gln)single nucleotide variantPathogenicrs397514698GRCh37Chr 9, 80412493: 80412493

Expression for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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Search GEO for disease gene expression data for Sturge-Weber Syndrome, Somatic, Mosaic.

Pathways for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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GO Terms for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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Sources for Sturge-Weber Syndrome, Somatic, Mosaic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet