SWS
MCID: STR039
MIFTS: 55

Sturge-Weber Syndrome (SWS) malady

Genetic diseases, Rare diseases categories

Summaries for Sturge-Weber Syndrome

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44NIH Rare Diseases, 4CDC, 45NINDS, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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 sturge weber syndrome, is related to glaucoma and retinal detachment. An important gene associated with Sturge-Weber Syndrome is GNAQ (guanine nucleotide binding protein (G protein), q polypeptide), and among its related pathways are Basal cell carcinoma and Amoebiasis. The compounds ellipticine and aflatoxin b1 have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and thalamus, and related mouse phenotypes are tumorigenesis and skeleton.

CDC:4 CDC and the Safe Water System [2 pages]

NINDS:45 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:66 Sturge?Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital... more...

Aliases & Classifications for Sturge-Weber Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 45NINDS, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

sturge-weber syndrome 44 45
sturge weber syndrome 44 21 23
encephalotrigeminal angiomatosis 44 45
sws type ii - facial angioma alone, no cns involvement 44
sws type i - facial and leptomeningeal angiomas 44
sws type iii - isolated leptomeningeal angiomas 44
meningeal capillary angiomatosis 44
encephalofacial angiomatosis 44
leptomeningeal angiomatosis 44
stuve-wiedemann syndrome 63
fourth phacomatosis 44
sws 44


Related Diseases for Sturge-Weber Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Sturge-Weber Syndrome:



Diseases related to sturge-weber syndrome

Symptoms for Sturge-Weber Syndrome

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Drugs & Therapeutics for Sturge-Weber Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Sturge-Weber Syndrome

Search CenterWatch for Sturge-Weber Syndrome

Genetic Tests for Sturge-Weber Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Sturge-Weber Syndrome:

id Genetic test Affiliating Genes
1 Sturge-Weber Syndrome21 23

Anatomical Context for Sturge-Weber Syndrome

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34MalaCards
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MalaCards organs/tissues related to Sturge-Weber Syndrome:

34
Brain, Skin, Thalamus, Eye, Cortex, Kidney, Lung, Occipital lobe

Animal Models for Sturge-Weber Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Sturge-Weber Syndrome:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3TP53, VEGFA, CYP1B1, FN1
2MP:00053908.2TP53, GNAQ, VEGFA, FN1
3MP:00107718.1FN1, VEGFA, GNAQ, TP53
4MP:00053807.9RASA1, TP53, VEGFA, FN1
5MP:00053717.9RASA1, TP53, GNAQ, VEGFA, FN1
6MP:00053827.8FN1, VEGFA, GNAQ, TP53, RASA1
7MP:00053697.8RASA1, TP53, GNAQ, VEGFA, FN1
8MP:00053857.8FN1, VEGFA, GNAQ, TP53, RASA1
9MP:00028737.8FN1, VEGFA, GNAQ, TP53
10MP:00053877.8FN1, VEGFA, GNAQ, TP53, RASA1
11MP:00053767.8FN1, CYP1B1, VEGFA, GNAQ, TP53
12MP:00036317.8FN1, VEGFA, GNAQ, TP53, RASA1
13MP:00053787.7RASA1, TP53, GNAQ, VEGFA, FN1
14MP:00107687.6RASA1, TP53, GNAQ, VEGFA, FN1

Publications for Sturge-Weber Syndrome

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53PubMed
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Articles related to Sturge-Weber Syndrome:

(show top 50)    (show all 484)
idTitleAuthorsYear
1
Localization of function-specific segments of the primary motor pathway in children with Sturge-Weber syndrome: a multimodal imaging analysis. (23463702)
2013
2
Bilateral bispectral index monitoring of a post-hemispherotomy patient with Sturge-Weber syndrome. (23808520)
2013
3
Atypical imaging evolution of sturge-weber syndrome without facial nevus. (23337009)
2013
4
Urine vascular biomarkers in Sturge-Weber syndrome. (23720035)
2013
5
Sturge-Weber syndrome: presentation with partial hypopituitarism. (23155711)
2012
6
Increased L-[1-11 C] leucine uptake in the leptomeningeal angioma of sturge-weber syndrome: a PET study. (21223431)
2012
7
Hypermetropia as a presentation of diffuse choroidal haemangioma in sturge-weber syndrome. (22237194)
2012
8
A pilot study of the modified Atkins diet for Sturge-Weber syndrome. (20934305)
2010
9
Neuroimaging findings of Sturge-Weber Syndrome in a child with Tuberous Sclerosis. (18644690)
2009
10
An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. (19389148)
2009
11
Color Doppler imaging of retrobulbar hemodynamics in Sturge-Weber syndrome-associated glaucoma. (18320507)
2008
12
Use of the ex-press miniature glaucoma implant in a child with Sturge-Weber syndrome. (17694831)
2007
13
White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome. (17698708)
2007
14
Impact of recent seizures on cerebral blood flow in patients with sturge-weber syndrome: study of 2 cases. (17690070)
2007
15
Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome. (16965497)
2006
16
Ahmed glaucoma valve implant for childhood glaucoma in Sturge-Weber syndrome with choroidal hemangioma. (17214399)
2006
17
Clinical findings of the phakomatoses: Sturge-Weber syndrome. (16505293)
2006
18
Sturge-Weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. (16134318)
2005
19
Sturge-Weber syndrome (choroidal hemangioma and glaucoma). (16250225)
2005
20
Ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal haemangioma in Sturge-Weber syndrome. (16333180)
2005
21
Photodynamic therapy using verteporfin for a diffuse choroidal hemangioma in Sturge-Weber syndrome. (15076958)
2004
22
Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: on the spectrum of Sturge-Weber syndrome variants? (12661936)
2003
23
Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme? (12804981)
2003
24
Pathophysiology of Sturge-Weber syndrome. (13677575)
2003
25
Sturge-Weber syndrome in a 14-year-old girl without facial naevus. (12418457)
2002
26
Ciliochoroidal effusion induced by topical latanoprost in a patient with sturge-weber syndrome. (12457915)
2002
27
An unusual case of Sturge-Weber syndrome in association with phakomatosis pigmentovascularis and Klippel-Trenaunay-Weber syndrome. (12055477)
2002
28
Cerebral blood flow and glucose metabolism in an infant with Sturge-Weber syndrome. (10698426)
2000
29
Indocyanine green angiographic findings in diffuse choroidal hemangioma associated with Sturge-Weber syndrome. (10955666)
2000
30
Circumscribed choroidal haemangioma in a patient with Sturge Weber syndrome. (10845024)
2000
31
Sturge-Weber syndrome. (10738631)
2000
32
Sturge weber syndrome - A case report. (23119574)
1999
33
Ahmed glaucoma valve implant for management of glaucoma in Sturge-Weber syndrome. (10612515)
1999
34
Sturge-Weber syndrome: cerebral haemodynamics during seizure activity. (10454232)
1999
35
The use of preoperative percutaneous transcatheter vascular occlusive therapy in the management of Sturge-Weber syndrome: report of a case. (9632339)
1998
36
Periodontal manifestations and treatment of Sturge-Weber syndrome--report of two cases. (9099052)
1997
37
Early single photon emission computed tomography in Sturge-Weber syndrome. (9408103)
1997
38
Abnormal ocular enhancement in Sturge-Weber syndrome: correlation of ocular MR and CT findings with clinical and intracranial imaging findings. (8730196)
1996
39
Sturge-Weber syndrome in pregnancy. (7573285)
1995
40
MR and MR angiography of Sturge-Weber syndrome. (8456722)
1993
41
Sturge-Weber syndrome: study of 40 patients. (8216540)
1993
42
Diagnosis of Sturge-Weber syndrome: comparison of the efficacy of CT and MR imaging in 14 cases. (1546607)
1992
43
MRI in Sturge-Weber syndrome. (1464780)
1992
44
Sturge-Weber syndrome without facial nevus. (1304469)
1992
45
Intracranial calcification in a neonate with the Sturge Weber syndrome and additional problems. (431990)
1979
46
Elevated spinal-fluid protein in Sturge-Weber syndrome. (669073)
1978
47
The value of the brain scan and cerebral arteriogram in the Sturge-Weber syndrome. (1215390)
1975
48
Oculocutaneous melanosis associated with the Sturge-Weber syndrome. (5062260)
1972
49
Cerebral venous drainage pattern of the Sturge-Weber syndrome. (5111963)
1971
50
Encephalotrigeminal angiomatosis. (Sturge-Weber Syndrome). (5802220)
1969

Variations for Sturge-Weber Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Sturge-Weber Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1LIFRNM_002310.5(LIFR): c.1789C> T (p.Arg597Ter)single nucleotide variantPathogenicrs121912501GRCh37Chr 5, 38496580: 38496580

Expression for genes affiliated with Sturge-Weber Syndrome

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 62Tocris Bioscience, 54QIAGEN, 56Reactome
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Pathways related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5TP53, GNAQ
29.4GNAQ, FN1
39.4RASA1, TP53
4
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.4RASA1, TP53
59.3RASA1, FN1
69.3FN1, TP53
79.3FN1, TP53
8
Show member pathways
S1P2 pathway39
S1P4 pathway39
S1P5 pathway39
S1P1 pathway39
Sphingosine 1-phosphate (S1P) pathway39
9.2GNAQ, VEGFA
9
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
9.1RASA1, VEGFA
10
Show member pathways
VEGFR1 specific signals39
9.1RASA1, VEGFA
119.1VEGFA, TP53
12
Show member pathways
9.1TP53, VEGFA
139.0VEGFA, FN1
14
Show member pathways
9.0VEGFA, FN1
159.0VEGFA, FN1
16
Show member pathways
9.0VEGFA, FN1
17
Show member pathways
9.0RASA1, TP53, GNAQ
18
Show member pathways
8.7VEGFA, GNAQ, RASA1
198.7CYP1B1, VEGFA, TP53
20
Show member pathways
Cytoskeleton remodeling FAK signaling61
Development Endothelin 1 EDNRA transactivation of EGFR61
8.6GNAQ, VEGFA, FN1
218.5FN1, VEGFA, TP53
228.5TP53, VEGFA, FN1
238.5TP53, VEGFA, FN1
24
Show member pathways
8.1TP53, GNAQ, VEGFA, FN1
25
Show member pathways
7.6FN1, VEGFA, GNAQ, TP53, RASA1

Compounds for genes affiliated with Sturge-Weber Syndrome

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Sources:
46Novoseek, 25HMDB, 62Tocris Bioscience, 3BitterDB, 52PharmGKB, 12DrugBank, 30IUPHAR
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Compounds related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1ellipticine469.9TP53, CYP1B1
2aflatoxin b146 2510.9TP53, CYP1B1
3indole-3-carbinol469.8TP53, CYP1B1
42-methoxyestradiol46 62 2511.8CYP1B1, TP53
5benzo(a)pyrene469.8TP53, CYP1B1
6aristolochic acid46 310.7TP53, FN1
7vinblastine46 52 1211.6TP53, FN1
83,3-diindolylmethane469.5TP53, VEGFA
9temozolomide46 1210.5TP53, VEGFA
10erlotinib46 52 1211.5VEGFA, CYP1B1
11taxane469.5TP53, VEGFA
12radicicol46 62 1211.5TP53, VEGFA
13triptolide469.5TP53, VEGFA
14fluorouracil52 1210.5VEGFA, TP53
15topotecan46 1210.5TP53, VEGFA
16guanine46 25 1211.4RASA1, TP53, GNAQ
17arachidonic acid46 30 25 1212.4CYP1B1, GNAQ, RASA1
18flavopiridol46 1210.4TP53, VEGFA
19bortezomib46 52 1211.3TP53, VEGFA
20irinotecan46 52 1211.3TP53, VEGFA
21pioglitazone30 46 52 1212.3VEGFA, FN1
22carboplatin46 52 1211.2TP53, VEGFA
23nocodazole46 1210.2TP53, FN1
24progestin469.2FN1, VEGFA
25oligonucleotide469.2TP53, GNAQ, CYP1B1
26geldanamycin46 52 62 1212.1VEGFA, TP53
27oxaliplatin46 52 1211.1TP53, VEGFA, CYP1B1
28resveratrol46 62 25 1212.1CYP1B1, VEGFA, TP53
29docetaxel46 52 62 1212.1TP53, VEGFA, CYP1B1
30h2o2469.1FN1, CYP1B1, TP53
31mg 13246 6210.1TP53, VEGFA, CYP1B1
32cyclophosphamide46 52 1211.1CYP1B1, VEGFA, TP53
33arsenite46 2510.1TP53, VEGFA, CYP1B1
345fluorouracil469.1CYP1B1, VEGFA, TP53
35n acetylcysteine469.1TP53, VEGFA, CYP1B1
36tamoxifen46 52 30 1212.1CYP1B1, VEGFA, TP53
37genistein46 30 62 3 25 1213.9VEGFA, CYP1B1, FN1
38sb 20358046 629.9TP53, VEGFA, FN1
39ly294002468.9FN1, VEGFA, TP53
40actinomycin d468.9TP53, VEGFA, FN1
41paraffin468.9TP53, VEGFA, FN1
42gemcitabine46 52 1210.8TP53, VEGFA
43cisplatin46 52 62 1211.8TP53, VEGFA, FN1
44serine468.6FN1, CYP1B1, TP53, RASA1
45dexamethasone46 52 30 1211.6VEGFA, CYP1B1, FN1
46paclitaxel46 52 1210.5TP53, VEGFA, CYP1B1, FN1
47doxorubicin46 52 1210.5FN1, CYP1B1, VEGFA, TP53
48cycloheximide468.5TP53, VEGFA, CYP1B1, FN1
49estrogen468.5FN1, CYP1B1, VEGFA, TP53
50tyrosine468.1FN1, CYP1B1, VEGFA, GNAQ, RASA1

GO Terms for genes affiliated with Sturge-Weber Syndrome

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17Gene Ontology
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Cellular components related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0VEGFA, FN1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1vasculogenesisGO:0015709.1RASA1, VEGFA
2cellular response to hypoxiaGO:0714569.1TP53, VEGFA
3positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.0TP53, VEGFA
4platelet degranulationGO:0025768.7VEGFA, FN1
5angiogenesisGO:0015258.7VEGFA, CYP1B1, FN1
6platelet activationGO:0301688.7FN1, VEGFA, GNAQ
7regulation of cell shapeGO:0083608.7FN1, VEGFA, RASA1
8blood coagulationGO:0075968.3TP53, GNAQ, VEGFA, FN1

Molecular functions related to Sturge-Weber Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.0VEGFA, FN1
2protease bindingGO:0020209.0TP53, FN1

Products for genes affiliated with Sturge-Weber Syndrome

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Sources for Sturge-Weber Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet