MCID: WBR001
MIFTS: 51

Weber Syndrome malady

Rare diseases category
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Summaries for Weber Syndrome

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MalaCards: Weber Syndrome, also known as midbrain stroke syndromes, is related to klippel-trenaunay syndrome and arteriovenous malformation. An important gene associated with Weber Syndrome is ENG (endoglin), and among its related pathways are Syndecan-2-mediated signaling events and Aurora A signaling. The compounds polybrene and ellipticine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and thalamus, and related mouse phenotypes are limbs/digits/tail and skeleton.

Aliases & Classifications for Weber Syndrome

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43NIH Rare Diseases, 62UMLS
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Classifications:

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


Aliases & Descriptions:

weber syndrome 43 62
midbrain stroke syndromes 43


Related Diseases for Weber Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Weber Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-trenaunay syndrome30.9RASA1
2arteriovenous malformation30.8ENG, ACVRL1
3hereditary hemorrhagic telangiectasia30.6ACVRL1, ENG
4retinal detachment30.6VEGFA, FN1
5disseminated intravascular coagulation30.1SERPINC1, FN1
6central retinal vein occlusion30.1VEGFA
7melanoma30.1VEGFA, ENG, TP53, GNAQ, FN1, CYP1B1
8retinal vein occlusion30.0VEGFA, SERPINC1
9neurofibromatosis30.0RASA1, SST
10adenoma29.8CYP1B1, IGF2, SST, ENG, TP53
11sturge-weber syndrome11.3
12glaucoma10.8
13parkes weber syndrome10.7
14choroiditis10.7
15cerebritis10.7
16hemangioma10.7
17angiomatosis10.6
18retinitis10.4
19migraine10.4
20periodontitis10.4
21hemimegalencephaly10.4
22arteriovenous fistula10.3
23tuberous sclerosis10.3
24gingivitis10.3
25aneurysm10.3
26phacomatosis pigmentovascularis10.3
27sturge-weber syndrome, somatic, mosaic10.3
28hepatitis10.2
29lymphangioma10.2
30hemiplegic migraine10.2
31pyogenic granuloma10.2
32headache10.2
33hemihypertrophy10.2
34vitreous detachment10.1FN1
35status epilepticus10.1
36von hippel-lindau disease10.1
37angiosarcoma10.1
38cervicitis10.1
39esotropia10.1
40hemiplegia10.1
41multiple myeloma10.1
42myeloma10.1
43pulmonary embolism10.1
44heterochromia iridis10.1
45pulmonary arteriovenous malformation10.1
46parkes weber syndrome, rasa1-related10.1
47early-onset glaucoma10.1
48seizure disorder10.1
49hyperopia10.1
50endophthalmitis10.1VEGFA

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



Diseases related to weber syndrome

Symptoms for Weber Syndrome

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Drugs & Therapeutics for Weber Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Weber Syndrome

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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33MalaCards
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MalaCards organs/tissues related to Weber Syndrome:

33
Brain, Spinal cord, Thalamus, Skin, Occipital lobe, Testis, Lung, Kidney, Colon, Heart, Cortex, Spleen, Bone, Eye

Animal Models for Weber Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Weber Syndrome:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4RASA1, GNAQ, IGF2, TP53, FN1, VEGFA
2MP:00053908.4GNAQ, TP53, FN1, VEGFA, IGF2
3MP:00053888.4ENG, GNAQ, TP53, IGF2, ACVRL1, VEGFA
4MP:00053708.4ACVRL1, IGF2, SERPINC1, TP53, VEGFA
5MP:00053678.3SERPINC1, TP53, GNAQ, VEGFA, IGF2
6MP:00107718.3ENG, GNAQ, VEGFA, IGF2, FN1, TP53
7MP:00028738.2ENG, FN1, VEGFA, GNAQ, TP53, ACVRL1
8MP:00030128.2TP53, VEGFA, IGF2, SST, RASA1
9MP:00053818.1RASA1, ACVRL1, SST, TP53, VEGFA, IGF2
10MP:00053918.0CYP1B1, TP53, SERPINC1, VEGFA, IGF2
11MP:00053828.0VEGFA, ENG, IGF2, RASA1, FN1, ACVRL1
12MP:00053697.9ACVRL1, GNAQ, VEGFA, IGF2, FN1, RASA1
13MP:00053807.8ENG, FN1, IGF2, VEGFA, TP53, SERPINC1
14MP:00053977.7ENG, SERPINC1, TP53, VEGFA, IGF2, FN1
15MP:00053857.5SERPINC1, ACVRL1, ENG, GNAQ, TP53, FN1
16MP:00053877.4FN1, IGF2, VEGFA, TP53, SERPINC1, SST
17MP:00053787.4RASA1, ENG, IGF2, GNAQ, TP53, SST
18MP:00107687.4GNAQ, RASA1, ACVRL1, SERPINC1, TP53, VEGFA
19MP:00036317.0VEGFA, RASA1, ACVRL1, SST, SERPINC1, TP53
20MP:00053766.9FN1, ENG, SST, SERPINC1, GNAQ, VEGFA

Publications for Weber Syndrome

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52PubMed
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Articles related to Weber Syndrome:

(show top 50)    (show all 640)
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
Thoracic vertebral hemangioma causing paraplegia in Klippel-Trenaunay-Weber syndrome: case report. (24101274)
2013
3
Organ donation and Rendu-Osler-Weber syndrome. (23545515)
2013
4
Bilateral bispectral index monitoring of a post-hemispherotomy patient with Sturge-Weber syndrome. (23808520)
2013
5
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
6
Sturge-Weber syndrome: presentation with partial hypopituitarism. (23155711)
2012
7
Increased L-[1-11 C] leucine uptake in the leptomeningeal angioma of sturge-weber syndrome: a PET study. (21223431)
2012
8
Hypermetropia as a presentation of diffuse choroidal haemangioma in sturge-weber syndrome. (22237194)
2012
9
A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. (19768566)
2010
10
Transurethral bladder tumor resection (TUR-Bt) in a patient with Osler-Rendu-Weber syndrome. (20513516)
2010
11
Clinical management of Rendu-Osler-Weber syndrome and genetic thrombophilia. (20519971)
2009
12
Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Case report. (19374218)
2009
13
Neuroimaging findings of Sturge-Weber Syndrome in a child with Tuberous Sclerosis. (18644690)
2009
14
Color Doppler imaging of retrobulbar hemodynamics in Sturge-Weber syndrome-associated glaucoma. (18320507)
2008
15
Rendu-Osler-Weber Syndrome: case report and literature review. (18661022)
2008
16
Electronic clinical challenges and images in GI: image 2. Colonic varices and consumptive coagulopathy in Klippel-TrAcnaunay-Weber Syndrome. (18775722)
2008
17
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. (18446851)
2008
18
Management of urethral hemangiomas associated with Klippel-Trenaunay-Weber syndrome by endoscopic sclerotherapy. (17645615)
2007
19
Use of the ex-press miniature glaucoma implant in a child with Sturge-Weber syndrome. (17694831)
2007
20
White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome. (17698708)
2007
21
Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome. (16965497)
2006
22
Ahmed glaucoma valve implant for childhood glaucoma in Sturge-Weber syndrome with choroidal hemangioma. (17214399)
2006
23
Clinical findings of the phakomatoses: Sturge-Weber syndrome. (16505293)
2006
24
Sturge-Weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. (16134318)
2005
25
Sturge-Weber syndrome (choroidal hemangioma and glaucoma). (16250225)
2005
26
Ruthenium-106 plaque brachytherapy for the treatment of diffuse choroidal haemangioma in Sturge-Weber syndrome. (16333180)
2005
27
Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: on the spectrum of Sturge-Weber syndrome variants? (12661936)
2003
28
Charcot osteoarthropathy in a case of Klippel-Trenaunay-Weber syndrome. (14587998)
2003
29
Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme? (12804981)
2003
30
Sturge-Weber syndrome in a 14-year-old girl without facial naevus. (12418457)
2002
31
Pulmonary arteriovenous fistula in the newborn: a case report of Rendu-Osler-Weber syndrome and a review of the literature. (11765165)
2001
32
Klippel-Trenaunay-Weber syndrome presenting as massive lymphangiohemangioma of the thigh: prenatal diagnosis. (11005126)
2000
33
Cerebral blood flow and glucose metabolism in an infant with Sturge-Weber syndrome. (10698426)
2000
34
Indocyanine green angiographic findings in diffuse choroidal hemangioma associated with Sturge-Weber syndrome. (10955666)
2000
35
Sturge weber syndrome - A case report. (23119574)
1999
36
Ahmed glaucoma valve implant for management of glaucoma in Sturge-Weber syndrome. (10612515)
1999
37
Sturge-Weber syndrome: cerebral haemodynamics during seizure activity. (10454232)
1999
38
The use of preoperative percutaneous transcatheter vascular occlusive therapy in the management of Sturge-Weber syndrome: report of a case. (9632339)
1998
39
Application of the surface rendering technique of three-dimensional ultrasound in prenatal diagnosis and counselling of Klippel-Trenaunay-Weber syndrome. (9556049)
1998
40
Periodontal manifestations and treatment of Sturge-Weber syndrome--report of two cases. (9099052)
1997
41
Early single photon emission computed tomography in Sturge-Weber syndrome. (9408103)
1997
42
Gram-negative bacteremia in four patients with Klippel-Trenaunay-Weber syndrome. (8628620)
1996
43
Sturge-Weber syndrome in pregnancy. (7573285)
1995
44
Klippel-Trenaunay-Weber syndrome mimicking pyoderma gangrenosum. (8537163)
1995
45
MR and MR angiography of Sturge-Weber syndrome. (8456722)
1993
46
Diagnosis of Sturge-Weber syndrome: comparison of the efficacy of CT and MR imaging in 14 cases. (1546607)
1992
47
Intracranial calcification in a neonate with the Sturge Weber syndrome and additional problems. (431990)
1979
48
Elevated spinal-fluid protein in Sturge-Weber syndrome. (669073)
1978
49
Oculocutaneous melanosis associated with the Sturge-Weber syndrome. (5062260)
1972
50
Encephalotrigeminal angiomatosis. (Sturge-Weber Syndrome). (5802220)
1969

Variations for Weber Syndrome

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Expression for genes affiliated with Weber Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Weber Syndrome

Search GEO for disease gene expression data for Weber Syndrome.

Pathways for genes affiliated with Weber Syndrome

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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG, 55Reactome, 53QIAGEN
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Compounds for genes affiliated with Weber Syndrome

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45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 24HMDB, 29IUPHAR, 3BitterDB
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Compounds related to Weber Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1polybrene4510.1SERPINC1, FN1
2ellipticine4510.0TP53, CYP1B1
3oxaliplatin45 51 1111.8VEGFA, TP53, CYP1B1
4gabexate mesilate459.7SST, SERPINC1
5resveratrol45 61 24 1112.6TP53, VEGFA, CYP1B1
6docetaxel45 51 61 1112.6TP53, VEGFA, CYP1B1
7vinblastine45 51 1111.6SST, TP53, FN1
8p002459.6CYP1B1, ENG, IGF2
9exemestane45 51 61 1112.5IGF2, CYP1B1
10mg 13245 6110.5TP53, VEGFA, CYP1B1
11carboplatin45 51 1111.5VEGFA, TP53, SST
12hyaluronic acid45 2410.5FN1, ENG, VEGFA
13pioglitazone29 45 51 1112.5FN1, IGF2, VEGFA
14caffeine45 29 3 51 24 1114.5TP53, SST, CYP1B1
15irinotecan45 51 1111.4TP53, IGF2, VEGFA
16aprotinin45 1110.4IGF2, SERPINC1, FN1
17pegvisomant45 1110.4IGF2, SST
183,3-diindolylmethane459.4TP53, VEGFA
19tgf beta1459.4FN1, IGF2, ACVRL1, ENG
20polyethylene glycol459.4IGF2, FN1, SERPINC1
21octreotide45 61 29 1112.3SST, IGF2, VEGFA
22n acetylcysteine459.3TP53, VEGFA, SERPINC1, CYP1B1
23guanine45 24 1111.3IGF2, TP53, GNAQ, RASA1
24cyclophosphamide45 51 1111.3SST, VEGFA, CYP1B1, TP53
25genistein45 29 61 3 24 1114.2FN1, SST, CYP1B1, VEGFA
26ibmx45 61 2911.2IGF2, SST, FN1
27progestin459.1IGF2, VEGFA, SERPINC1, FN1
28prostacyclin459.1FN1, IGF2, SERPINC1, VEGFA
29ly294002459.1TP53, VEGFA, IGF2, FN1
30actinomycin d459.0TP53, FN1, IGF2, VEGFA
31imatinib45 51 1111.0VEGFA, IGF2, FN1
32rapamycin459.0SST, FN1, IGF2, VEGFA
33cisplatin45 51 61 1111.9FN1, IGF2, TP53, VEGFA
34paraffin458.9ENG, FN1, IGF2, VEGFA, TP53
35paclitaxel45 51 1110.8TP53, CYP1B1, IGF2, VEGFA, FN1
36heparin45 29 24 1111.8VEGFA, SERPINC1, FN1, IGF2
37tamoxifen45 51 29 1111.7IGF2, SERPINC1, CYP1B1, TP53, VEGFA
38oligonucleotide458.7ENG, ACVRL1, TP53, GNAQ, IGF2, CYP1B1
39doxorubicin45 51 1110.7CYP1B1, ENG, SST, TP53, VEGFA, FN1
405fluorouracil458.7SST, IGF2, CYP1B1, VEGFA, TP53
41adenylate458.7SST, IGF2, CYP1B1, GNAQ, SERPINC1
42pge2458.6IGF2, FN1, SERPINC1, SST, VEGFA
43retinoic acid45 249.5FN1, SST, IGF2, CYP1B1, TP53
44tyrosine458.4CYP1B1, VEGFA, ENG, RASA1, FN1, GNAQ
45cycloheximide458.3TP53, CYP1B1, IGF2, FN1, VEGFA, SST
46arginine458.3FN1, TP53, IGF2, SERPINC1, SST, RASA1
47estrogen458.1TP53, ENG, FN1, IGF2, CYP1B1, VEGFA
48dexamethasone45 51 29 1111.0FN1, IGF2, VEGFA, SST, SERPINC1, CYP1B1
49serine458.0FN1, ENG, RASA1, IGF2, CYP1B1, TP53
50vegf457.7TP53, FN1, IGF2, VEGFA, SERPINC1, SST

GO Terms for genes affiliated with Weber Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310938.8FN1, IGF2, VEGFA
2extracellular regionGO:0055768.2SST, SERPINC1, VEGFA, IGF2, FN1
3extracellular spaceGO:0056157.8ENG, SST, SERPINC1, VEGFA, IGF2, FN1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1retina vasculature development in camera-type eyeGO:06129810.1ACVRL1, CYP1B1
2positive regulation of BMP signaling pathwayGO:03051310.1ENG, ACVRL1
3negative regulation of endothelial cell proliferationGO:00193710.0ENG, ACVRL1
4artery morphogenesisGO:04884410.0VEGFA, ENG
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.9ENG, ACVRL1
6vasculogenesisGO:0015709.9ENG, RASA1, VEGFA
7patterning of blood vesselsGO:0015699.8ENG, VEGFA
8transforming growth factor beta receptor signaling pathwayGO:0071799.7ENG, ACVRL1, TP53
9regulation of cell shapeGO:0083609.7FN1, VEGFA, RASA1
10negative regulation of cell adhesionGO:0071629.6RASA1, ACVRL1
11angiogenesisGO:0015259.5FN1, CYP1B1, VEGFA, ACVRL1
12positive regulation of protein phosphorylationGO:0019349.4ENG, VEGFA, IGF2
13platelet degranulationGO:0025769.4FN1, IGF2, VEGFA
14positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.4IGF2, VEGFA, TP53
15in utero embryonic developmentGO:0017019.3VEGFA, TP53, ACVRL1
16platelet activationGO:0301689.1FN1, IGF2, VEGFA, GNAQ
17positive regulation of transcription from RNA polymerase II promoterGO:0459448.8ENG, ACVRL1, TP53, VEGFA, IGF2
18blood coagulationGO:0075968.3SERPINC1, TP53, GNAQ, VEGFA, IGF2, FN1

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

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:04818510.0ENG, ACVRL1
2transforming growth factor beta bindingGO:0504319.9ENG, ACVRL1
3transforming growth factor beta-activated receptor activityGO:0050249.8ACVRL1, ENG
4protease bindingGO:0020209.4SERPINC1, TP53, FN1
5heparin bindingGO:0082019.0SERPINC1, VEGFA, FN1
6protein bindingGO:0055157.2FN1, IGF2, VEGFA, GNAQ, TP53, SERPINC1

Products for genes affiliated with Weber Syndrome

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Sources for Weber Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet