MCID: STR039
MIFTS: 47

Sturge-Weber Syndrome malady

Summaries for Sturge-Weber Syndrome

Sources:
43NIH Rare Diseases, 44NINDS, 64Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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: Sturge-Weber Syndrome, also known as encephalotrigeminal angiomatosis, is related to arteriovenous malformation and neurofibromatosis. An important gene associated with Sturge-Weber Syndrome is CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1), and among its related pathways are Syndecan-2-mediated signaling events and Signaling events mediated by VEGFR1 and VEGFR2. The compounds erlotinib and ellipticine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and kidney, and related mouse phenotypes are nervous system and skeleton.

NINDS:44 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.

Wikipedia:64 Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital... more...

Aliases & Classifications for Sturge-Weber Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 44NINDS, 61UMLS
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Aliases & Descriptions:

sturge-weber syndrome 43 20 22 44
encephalotrigeminal angiomatosis 43 44
meningeal capillary angiomatosis 43
encephalofacial angiomatosis 43
leptomeningeal angiomatosis 43
stuve-wiedemann syndrome 61
fourth phacomatosis 43


Related Diseases for Sturge-Weber Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sturge-Weber Syndrome:



Diseases related to sturge-weber syndrome

Clinical Features for Sturge-Weber Syndrome

Drugs & Therapeutics for Sturge-Weber Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Sturge-Weber Syndrome

Drug clinical trials:

Search ClinicalTrials for Sturge-Weber Syndrome

Search NIH Clinical Center for Sturge-Weber Syndrome

Search CenterWatch for Sturge-Weber Syndrome

Genetic Tests for Sturge-Weber Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Sturge-Weber Syndrome:

id Genetic test Affiliating Genes
1 Sturge-weber Syndrome20 22

Anatomical Context for Sturge-Weber Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Sturge-Weber Syndrome:

33
Brain, Cortex, Kidney, Lung, Thyroid, Skin, B cells, Occipital lobe, Thalamus

Animal Models for Sturge-Weber Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Sturge-Weber Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.4FN1, GNAQ
2MP:00053908.5FN1, VEGFA, GNAQ
3MP:00020068.2TP53, CYP1B1, FN1, VEGFA
4MP:00107718.0TP53, FN1, VEGFA, GNAQ
5MP:00053827.7TP53, RASA1, FN1, VEGFA, GNAQ
6MP:00053697.7GNAQ, VEGFA, FN1, RASA1, TP53
7MP:00053857.7GNAQ, VEGFA, FN1, RASA1, TP53
8MP:00053877.6GNAQ, VEGFA, FN1, RASA1, TP53
9MP:00053787.4GNAQ, VEGFA, FN1, RASA1, TP53

Publications for Sturge-Weber Syndrome

Sources:
51PubMed
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Articles related to Sturge-Weber Syndrome:

(show top 50)    (show all 494)
idTitleAuthorsYear
1
Sturge-Weber syndrome with late onset hemiplegic migraine-like attacks and progressive unilateral cerebral atrophy. (24045571)
2014
2
Atypical imaging evolution of sturge-weber syndrome without facial nevus. (23337009)
2013
3
Periodontal management of sturge-weber syndrome. (23762644)
2013
4
Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. (23112247)
2013
5
Sturge-weber syndrome with osteohypertrophy of maxilla. (23819093)
2013
6
Type III Sturge-Weber syndrome with migraine-like attacks associated with prolonged visual aura. (23465081)
2013
7
Increased L-[1-11 C] leucine uptake in the leptomeningeal angioma of sturge-weber syndrome: a PET study. (21223431)
2012
8
Serous retinal detachment induced by topical bimatoprost in a patient with Sturge-Weber syndrome. (21127508)
2011
9
Sturge-Weber syndrome in an orthodontic patient. (21889087)
2011
10
Photodynamic therapy of choroidal hemangioma in sturge-weber syndrome, with a review of treatments for diffuse and circumscribed choroidal hemangiomas. (21074819)
2011
11
Prolonged left homonymous hemianopsia associated with migraine-like attacks in a child with Sturge-Weber syndrome. (19800749)
2010
12
Sturge-Weber syndrome: ear, nose, and throat issues and neurologic status. (20837301)
2010
13
MRI with diffusion-weighted imaging in children and young adults with simultaneous supra- and infratentorial manifestations of Sturge-Weber syndrome. (19570579)
2010
14
Inhibitory actions of the gamma-aminobutyric acid in pediatric Sturge-Weber syndrome. (19743469)
2009
15
Hearing impairment in the Sturge-Weber syndrome. (19555440)
2009
16
Use of the ex-press miniature glaucoma implant in a child with Sturge-Weber syndrome. (17694831)
2007
17
Quantitative EEG asymmetry correlates with clinical severity in unilateral Sturge-Weber syndrome. (17241228)
2007
18
An almost missed leptomeningeal angioma in Sturge-Weber syndrome. (17224587)
2007
19
Multimodality imaging of cortical and white matter abnormalities in Sturge-Weber syndrome. (17494666)
2007
20
Natural history and magnetic resonance imaging follow-up in 9 Sturge-Weber Syndrome patients and clinical correlation. (17621534)
2007
21
Ahmed glaucoma valve implant for childhood glaucoma in Sturge-Weber syndrome with choroidal hemangioma. (17214399)
2006
22
Advances in Sturge-Weber syndrome. (16538084)
2006
23
Sturge-Weber syndrome (encephalotrigeminal or leptomeningeal angiomatosis). (17043299)
2006
24
Quantitative analysis of cerebral cortical atrophy and correlation with clinical severity in unilateral Sturge-Weber syndrome. (16417855)
2005
25
Coexistence of pleomorphic xanthoastrocytoma with Sturge-Weber syndrome: MRI features. (15883827)
2005
26
Discrepancy between [18F]fluorodeoxyglucose and 11C-methionine positron emission tomography findings in Sturge-Weber syndrome--case report. (14560853)
2003
27
A case of acute angle-closure glaucoma secondary to posterior scleritis in patient with Sturge-Weber syndrome. (11853718)
2002
28
Central retinal vein occlusion associated with Sturge Weber syndrome. (12194091)
2002
29
Unilateral arcus lipoides cornae with contrlateral Sturge-Weber syndrome. (11186860)
2000
30
Phacomatosis pigmentovascularis type IIb associated with Sturge-Weber syndrome and pyogenic granuloma. (9863285)
1998
31
Proton magnetic resonance spectroscopy in children with Sturge-Weber syndrome. (9701482)
1998
32
Status epilepticus and venous infarction in Sturge-Weber syndrome. (9881620)
1998
33
99mTechnetium HMPAO imaging in children with the Sturge-Weber syndrome: a study of nine cases with CT and MRI correlation. (9106299)
1997
34
Accelerated myelination in early Sturge-Weber syndrome: MRI-SPECT correlations. (8929371)
1996
35
Sturge-Weber syndrome associated with a large left hemispheric arteriovenous malformation. (7800450)
1994
36
The phakomatoses: Part II. von Hippel-Lindau disease, Sturge-Weber syndrome, and less common conditions. (8081631)
1994
37
Sturge-Weber syndrome: study of 40 patients. (8216540)
1993
38
Sturge-Weber syndrome: cranial MR imaging with Gd-DTPA. (8456721)
1993
39
The Sturge-Weber syndrome: a case involving a 13-year-old black male. (1632626)
1992
40
Persistent trigeminal artery in a patient with Sturge-Weber syndrome. (1546608)
1992
41
Megalencephaly due to impaired cerebral venous return in a Sturge-Weber variant syndrome. (3598114)
1986
42
Recurrent intraoperative choroidal effusion in Sturge-Weber syndrome. (6644488)
1983
43
Intracranial calcification in a neonate with the Sturge Weber syndrome and additional problems. (431990)
1979
44
Deep venous occlusion in the Sturge-Weber syndrome. (897487)
1977
45
Trabeculectomy for adolescent onset glaucoma in the Sturge-Weber syndrome. (1018194)
1976
46
Sturge-Weber syndrome. (1215458)
1975
47
On surgical treatment of Sturge-Weber syndrome. (5030737)
1972
48
Sturge-Weber syndrome. (4899082)
1969
49
Sturge-Weber syndrome and multiple myeloma. (5358116)
1969
50
Sturge-Weber syndrome associated with multiple myeloma. (5822358)
1969

Genetic Variations for Sturge-Weber Syndrome

Expression for genes affiliated with Sturge-Weber Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sturge-Weber Syndrome

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

Pathways for genes affiliated with Sturge-Weber Syndrome

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 30KEGG, 52QIAGEN
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Pathways related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5FN1, RASA1
2
Hide members
9.4RASA1, VEGFA
39.3VEGFA, FN1
49.3VEGFA, FN1
5
Hide members
9.3GNAQ, VEGFA
69.2RASA1, TP53
7
Transcription P53 signaling pathway
Hide members
9.0VEGFA, TP53
8
Hide members
8.8VEGFA, GNAQ, FN1
9
Development Endothelin-1/EDNRA signaling
Hide members
8.8VEGFA, GNAQ, FN1
10
Hide members
8.7TP53, RASA1, GNAQ
118.6VEGFA, TP53, CYP1B1
12
Hide members
8.6VEGFA, RASA1, TP53
138.5TP53, FN1, VEGFA
148.5VEGFA, FN1, TP53
158.5TP53, FN1, VEGFA

Compounds for genes affiliated with Sturge-Weber Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 60Tocris Bioscience, 29IUPHAR
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Compounds related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1erlotinib45 50 1111.7VEGFA, CYP1B1
2ellipticine459.6CYP1B1, TP53
3aflatoxin b145 2410.6TP53, CYP1B1
4aristolochic acid45 210.5FN1, TP53
5indole-3-carbinol459.5CYP1B1, TP53
63,3-diindolylmethane459.4TP53, VEGFA
7temozolomide45 1110.4VEGFA, TP53
8taxane459.4VEGFA, TP53
9radicicol45 60 1111.3TP53, VEGFA
10triptolide459.3VEGFA, TP53
112-methoxyestradiol45 60 2411.3CYP1B1, TP53
12benzo(a)pyrene459.2TP53, CYP1B1
13topotecan45 1110.2VEGFA, TP53
14arachidonic acid45 29 11 2412.2CYP1B1, RASA1, GNAQ
15vinblastine45 50 1111.1TP53, FN1
16genistein45 29 60 2 11 2414.1VEGFA, CYP1B1, FN1
17guanine45 11 2411.0RASA1, GNAQ, TP53
18oxaliplatin45 50 1111.0CYP1B1, VEGFA, TP53
19docetaxel45 50 60 1112.0TP53, VEGFA, CYP1B1
20mg 13245 6010.0VEGFA, CYP1B1, TP53
21arsenite45 2410.0CYP1B1, VEGFA, TP53
225fluorouracil459.0CYP1B1, TP53, VEGFA
23n acetylcysteine459.0TP53, CYP1B1, VEGFA
24tamoxifen45 50 29 1111.9CYP1B1, VEGFA, TP53
25sb 20358045 609.8FN1, TP53, VEGFA
26ly294002458.8VEGFA, FN1, TP53
27actinomycin d458.8TP53, VEGFA, FN1
28flavopiridol45 119.7TP53, VEGFA
29paraffin458.7FN1, VEGFA, TP53
30paclitaxel45 50 1110.5FN1, CYP1B1, TP53, VEGFA
31doxorubicin45 50 1110.5TP53, CYP1B1, VEGFA, FN1
32cycloheximide458.5TP53, FN1, CYP1B1, VEGFA
33estrogen458.4CYP1B1, VEGFA, FN1, TP53
34cisplatin45 50 60 1111.4VEGFA, TP53, FN1
35tyrosine458.3CYP1B1, FN1, VEGFA, GNAQ, RASA1

GO Terms for genes affiliated with Sturge-Weber Syndrome

Sources:
16Gene Ontology
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Cellular components related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.3FN1, VEGFA

Biological processes related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vasculogenesisGO:0015709.1VEGFA, RASA1
2positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.0TP53, VEGFA
3regulation of cell shapeGO:0083608.9VEGFA, FN1, RASA1
4angiogenesisGO:0015258.9CYP1B1, VEGFA, FN1
5platelet activationGO:0301688.7FN1, VEGFA, GNAQ
6blood coagulationGO:0075968.1GNAQ, TP53, FN1, VEGFA

Products for genes affiliated with Sturge-Weber Syndrome

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Sources for Sturge-Weber Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet