MCID: STR039
MIFTS: 37

Sturge-Weber Syndrome malady

Summaries for Sturge-Weber Syndrome

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42NIH Rare Diseases, 43NINDS, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 glaucoma and retinal detachment. 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 and skin, and related mouse phenotypes are nervous system and skeleton.

NINDS:43 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:63 Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital... more...

Aliases & Classifications for Sturge-Weber Syndrome

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42NIH Rare Diseases, 20GeneTests, 22GTR, 43NINDS, 60UMLS
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Aliases & Descriptions:

sturge-weber syndrome 42 20 22 43
encephalotrigeminal angiomatosis 42 43
meningeal capillary angiomatosis 42
encephalofacial angiomatosis 42
leptomeningeal angiomatosis 42
stuve-wiedemann syndrome 60
fourth phacomatosis 42


Related Diseases for Sturge-Weber Syndrome

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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

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Drugs & Therapeutics for Sturge-Weber Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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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

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32MalaCards
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MalaCards organs/tissues related to Sturge-Weber Syndrome:

32
Brain, Skin

Animal Models for Sturge-Weber Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sturge-Weber Syndrome:

36
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

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Genetic Variations for Sturge-Weber Syndrome

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Expression for genes affiliated with Sturge-Weber Syndrome

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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

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37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 29KEGG, 51QIAGEN
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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
19.5RASA1, FN1
2
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9.4RASA1, VEGFA
39.3VEGFA, FN1
49.3FN1, VEGFA
5
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9.3GNAQ, VEGFA
69.2RASA1, TP53
7
Transcription P53 signaling pathway
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9.0TP53, VEGFA
8
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8.8FN1, VEGFA, GNAQ
9
Development Endothelin-1/EDNRA signaling
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8.8FN1, VEGFA, GNAQ
10
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8.7GNAQ, RASA1, TP53
118.6VEGFA, CYP1B1, TP53
12
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8.6TP53, RASA1, VEGFA
138.5VEGFA, FN1, TP53
148.5VEGFA, FN1, TP53
158.5TP53, FN1, VEGFA

Compounds for genes affiliated with Sturge-Weber Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1erlotinib44 49 1111.7VEGFA, CYP1B1
2ellipticine449.6CYP1B1, TP53
3aflatoxin b144 2410.6TP53, CYP1B1
4aristolochic acid44 210.5FN1, TP53
5indole-3-carbinol449.5TP53, CYP1B1
63,3-diindolylmethane449.4VEGFA, TP53
7temozolomide44 1110.4VEGFA, TP53
8taxane449.4VEGFA, TP53
9radicicol44 59 1111.3VEGFA, TP53
10triptolide449.3TP53, VEGFA
112-methoxyestradiol44 59 2411.3TP53, CYP1B1
12benzo(a)pyrene449.2TP53, CYP1B1
13topotecan44 1110.2VEGFA, TP53
14arachidonic acid44 28 11 2412.2GNAQ, CYP1B1, RASA1
15vinblastine44 49 1111.1TP53, FN1
16genistein44 28 59 2 11 2414.1CYP1B1, FN1, VEGFA
17guanine44 11 2411.0TP53, RASA1, GNAQ
18oxaliplatin44 49 1111.0VEGFA, CYP1B1, TP53
19docetaxel44 49 59 1112.0TP53, CYP1B1, VEGFA
20mg 13244 5910.0TP53, CYP1B1, VEGFA
21arsenite44 2410.0VEGFA, CYP1B1, TP53
225fluorouracil449.0TP53, CYP1B1, VEGFA
23n acetylcysteine449.0TP53, CYP1B1, VEGFA
24tamoxifen44 49 28 1111.9TP53, CYP1B1, VEGFA
25sb 20358044 599.8TP53, FN1, VEGFA
26ly294002448.8TP53, FN1, VEGFA
27actinomycin d448.8VEGFA, FN1, TP53
28flavopiridol44 119.7TP53, VEGFA
29paraffin448.7TP53, FN1, VEGFA
30paclitaxel44 49 1110.5TP53, CYP1B1, FN1, VEGFA
31doxorubicin44 49 1110.5TP53, CYP1B1, FN1, VEGFA
32cycloheximide448.5VEGFA, FN1, CYP1B1, TP53
33estrogen448.4VEGFA, FN1, CYP1B1, TP53
34cisplatin44 49 59 1111.4VEGFA, FN1, TP53
35tyrosine448.3GNAQ, VEGFA, FN1, CYP1B1, RASA1

GO Terms for genes affiliated with Sturge-Weber Syndrome

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

Products for genes affiliated with Sturge-Weber Syndrome

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Sources for Sturge-Weber Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet