Aliases & Classifications for Weber Syndrome

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Aliases & Descriptions for Weber Syndrome:

Name: Weber Syndrome 42 61
 
Midbrain Stroke Syndromes 42


Classifications:



Summaries for Weber Syndrome

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MalaCards based summary: Weber Syndrome, also known as midbrain stroke syndromes, is related to klippel-trenaunay-weber 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 skin, and related mouse phenotypes are limbs/digits/tail and skeleton.

Related Diseases for Weber Syndrome

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Diseases related to Weber Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-trenaunay-weber syndrome32.3RASA1
2arteriovenous malformation31.3ENG, ACVRL1
3hereditary hemorrhagic telangiectasia31.1ACVRL1, ENG
4retinal detachment31.0VEGFA, FN1
5central retinal vein occlusion30.6VEGFA
6retinal vein occlusion30.3VEGFA, SERPINC1
7disseminated intravascular coagulation30.0SERPINC1, FN1
8neurofibromatosis30.0RASA1, SST
9kidney disease30.0SERPINC1, VEGFA, FN1
10glioblastoma29.9VEGFA, FN1, ENG, TP53
11melanoma29.8VEGFA, ENG, TP53, GNAQ, FN1, CYP1B1
12adenoma29.4CYP1B1, IGF2, SST, ENG, TP53
13parkes weber syndrome10.8
14choroiditis10.7
15sturge-weber syndrome, somatic, mosaic10.7
16hemangioma10.7
17cerebritis10.7
18angiomatosis10.5
19vitreous detachment10.5FN1
20retinitis10.5
21migraine10.5
22mietens-weber syndrome10.5
23endophthalmitis10.4VEGFA
24hypoglycemic coma10.4IGF2
25cerebral arteriovenous malformation10.4ACVRL1, ENG
26diabetic macular edema10.4VEGFA
27choroid plexus papilloma10.4TP53
28telangiectasis10.4ACVRL1, ENG
29periodontitis10.4
30arteriovenous fistula10.4
31tuberous sclerosis10.4
32hemimegalencephaly10.4
33vascular cancer10.4VEGFA, ENG
34aneurysm10.3
35headache10.3
36renal fibrosis10.3ENG, FN1
37gingivitis10.3
38phacomatosis pigmentovascularis10.3
39embryonal rhabdomyosarcoma10.2IGF2, ACVRL1
40intestinal disease10.2SST
41laryngeal carcinoma10.2TP53, ENG
42hepatitis10.2
43lymphangioma10.2
44hemiplegic migraine10.2
45pyogenic granuloma10.2
46parkes weber syndrome, rasa1-related10.2
47li-fraumeni syndrome10.2IGF2, CYP1B1
48leukemia, chronic myeloid10.2RASA1, FN1, ENG
49oral cancer10.2ENG, CYP1B1, TP53
50proteinuria10.2ENG, VEGFA, FN1

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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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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MalaCards organs/tissues related to Weber Syndrome:

31
Brain, Spinal cord, Skin, Thalamus, Eye, Bone, Spleen, Cortex, Heart, Colon, Kidney, Lung, Thyroid, Testis, Occipital lobe

Animal Models for Weber Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Weber Syndrome:

35 (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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Articles related to Weber Syndrome:

(show top 50)    (show all 686)
idTitleAuthorsYear
1
Sturge-Weber syndrome: CT and MRI illustrations. (25385561)
2014
2
Klippel-Trenaunay-Weber syndrome-associated arterial and venous malformations in the lower uterine segment. (25222156)
2014
3
Localization of function-specific segments of the primary motor pathway in children with Sturge-Weber syndrome: a multimodal imaging analysis. (23463702)
2013
4
Thoracic vertebral hemangioma causing paraplegia in Klippel-Trenaunay-Weber syndrome: case report. (24101274)
2013
5
Organ donation and Rendu-Osler-Weber syndrome. (23545515)
2013
6
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
7
Sturge-Weber syndrome: presentation with partial hypopituitarism. (23155711)
2012
8
Increased L-[1-11 C] leucine uptake in the leptomeningeal angioma of sturge-weber syndrome: a PET study. (21223431)
2012
9
Hypermetropia as a presentation of diffuse choroidal haemangioma in sturge-weber syndrome. (22237194)
2012
10
A girl of Klippel-Trenaunay Weber syndrome coexistence of recurrent bloody vaginal discharge. (19768566)
2010
11
Transurethral bladder tumor resection (TUR-Bt) in a patient with Osler-Rendu-Weber syndrome. (20513516)
2010
12
Clinical management of Rendu-Osler-Weber syndrome and genetic thrombophilia. (20519971)
2009
13
Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Case report. (19374218)
2009
14
Neuroimaging findings of Sturge-Weber Syndrome in a child with Tuberous Sclerosis. (18644690)
2009
15
Color Doppler imaging of retrobulbar hemodynamics in Sturge-Weber syndrome-associated glaucoma. (18320507)
2008
16
Rendu-Osler-Weber Syndrome: case report and literature review. (18661022)
2008
17
Electronic clinical challenges and images in GI: image 2. Colonic varices and consumptive coagulopathy in Klippel-TrAcnaunay-Weber Syndrome. (18775722)
2008
18
Ictal SPECT in Sturge-Weber syndrome. (18222066)
2008
19
Management of urethral hemangiomas associated with Klippel-Trenaunay-Weber syndrome by endoscopic sclerotherapy. (17645615)
2007
20
Use of the ex-press miniature glaucoma implant in a child with Sturge-Weber syndrome. (17694831)
2007
21
White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome. (17698708)
2007
22
Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome. (16965497)
2006
23
Ahmed glaucoma valve implant for childhood glaucoma in Sturge-Weber syndrome with choroidal hemangioma. (17214399)
2006
24
Clinical findings of the phakomatoses: Sturge-Weber syndrome. (16505293)
2006
25
Sturge-Weber syndrome: diffusion magnetic resonance imaging and proton magnetic resonance spectroscopy findings. (16134318)
2005
26
Sturge-Weber syndrome (choroidal hemangioma and glaucoma). (16250225)
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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Search GEO for disease gene expression data for Weber Syndrome.

Pathways for genes affiliated with Weber Syndrome

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Compounds for genes affiliated with Weber Syndrome

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Compounds related to Weber Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1polybrene4410.1SERPINC1, FN1
2ellipticine4410.0CYP1B1, TP53
3oxaliplatin44 50 1111.8VEGFA, TP53, CYP1B1
4gabexate mesilate449.7SERPINC1, SST
5aristolochic acid44 110.7FN1, TP53
6resveratrol44 60 24 1112.6VEGFA, TP53, CYP1B1
7docetaxel44 50 60 1112.6VEGFA, TP53, CYP1B1
8vinblastine44 50 1111.6SST, TP53, FN1
9p002449.6CYP1B1, ENG, IGF2
10mg 13244 6010.5TP53, CYP1B1, VEGFA
11carboplatin44 50 1111.5TP53, SST, VEGFA
12hyaluronic acid44 2410.5VEGFA, ENG, FN1
13pioglitazone28 44 50 1112.5FN1, IGF2, VEGFA
14caffeine44 28 1 50 24 1114.5SST, TP53, CYP1B1
15irinotecan44 50 1111.4TP53, IGF2, VEGFA
16aprotinin44 1110.4IGF2, SERPINC1, FN1
17pegvisomant44 1110.4SST, IGF2
183,3-diindolylmethane449.4VEGFA, TP53
19tgf beta1449.4FN1, IGF2, ACVRL1, ENG
20polyethylene glycol449.4FN1, SERPINC1, IGF2
21octreotide44 60 28 1112.3SST, IGF2, VEGFA
22n acetylcysteine449.3TP53, VEGFA, SERPINC1, CYP1B1
23guanine44 24 1111.3IGF2, TP53, GNAQ, RASA1
24cyclophosphamide44 50 1111.3SST, VEGFA, CYP1B1, TP53
25genistein44 28 60 1 24 1114.2CYP1B1, SST, FN1, VEGFA
26ibmx44 60 2811.2IGF2, SST, FN1
27progestin449.1IGF2, VEGFA, SERPINC1, FN1
28prostacyclin449.1FN1, IGF2, SERPINC1, VEGFA
29ly294002449.1TP53, VEGFA, IGF2, FN1
30actinomycin d449.0TP53, IGF2, FN1, VEGFA
31imatinib44 50 1111.0FN1, IGF2, VEGFA
32rapamycin449.0SST, FN1, IGF2, VEGFA
33cisplatin44 50 60 1111.9FN1, IGF2, VEGFA, TP53
34paraffin448.9ENG, FN1, IGF2, VEGFA, TP53
35paclitaxel44 50 1110.8TP53, CYP1B1, IGF2, VEGFA, FN1
36heparin44 28 24 1111.8VEGFA, FN1, SERPINC1, IGF2
37tamoxifen44 50 28 1111.7IGF2, SERPINC1, CYP1B1, TP53, VEGFA
38oligonucleotide448.7ENG, ACVRL1, TP53, GNAQ, IGF2, CYP1B1
39doxorubicin44 50 1110.7CYP1B1, ENG, SST, TP53, VEGFA, FN1
405fluorouracil448.7SST, IGF2, CYP1B1, VEGFA, TP53
41adenylate448.7SST, IGF2, CYP1B1, GNAQ, SERPINC1
42pge2448.6IGF2, FN1, SERPINC1, SST, VEGFA
43retinoic acid44 249.5FN1, TP53, SST, CYP1B1, IGF2
44tyrosine448.4CYP1B1, VEGFA, ENG, RASA1, FN1, GNAQ
45cycloheximide448.3TP53, CYP1B1, IGF2, FN1, VEGFA, SST
46arginine448.3FN1, TP53, IGF2, SERPINC1, SST, RASA1
47estrogen448.1TP53, ENG, FN1, IGF2, CYP1B1, VEGFA
48dexamethasone44 50 28 1111.0FN1, IGF2, VEGFA, SST, SERPINC1, CYP1B1
49serine448.0FN1, ENG, RASA1, IGF2, CYP1B1, TP53
50vegf447.7TP53, FN1, IGF2, VEGFA, SERPINC1, SST

GO Terms for genes affiliated with Weber Syndrome

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Cellular components related to Weber Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310938.8FN1, IGF2, VEGFA
2extracellular regionGO:00055768.2SST, SERPINC1, VEGFA, IGF2, FN1
3extracellular spaceGO:00056157.8ENG, SST, SERPINC1, VEGFA, IGF2, FN1

Biological processes related to Weber Syndrome according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1retina vasculature development in camera-type eyeGO:006129810.1ACVRL1, CYP1B1
2positive regulation of BMP signaling pathwayGO:003051310.1ENG, ACVRL1
3negative regulation of endothelial cell proliferationGO:000193710.0ENG, ACVRL1
4artery morphogenesisGO:004884410.0VEGFA, ENG
5positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.9ENG, ACVRL1
6vasculogenesisGO:00015709.9ENG, RASA1, VEGFA
7patterning of blood vesselsGO:00015699.8ENG, VEGFA
8transforming growth factor beta receptor signaling pathwayGO:00071799.7ENG, ACVRL1, TP53
9regulation of cell shapeGO:00083609.7FN1, VEGFA, RASA1
10negative regulation of cell adhesionGO:00071629.6RASA1, ACVRL1
11angiogenesisGO:00015259.5FN1, CYP1B1, VEGFA, ACVRL1
12positive regulation of protein phosphorylationGO:00019349.4ENG, VEGFA, IGF2
13platelet degranulationGO:00025769.4FN1, IGF2, VEGFA
14positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.4IGF2, VEGFA, TP53
15in utero embryonic developmentGO:00017019.3VEGFA, TP53, ACVRL1
16platelet activationGO:00301689.1FN1, IGF2, VEGFA, GNAQ
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.8ENG, ACVRL1, TP53, VEGFA, IGF2
18blood coagulationGO:00075968.3SERPINC1, TP53, GNAQ, VEGFA, IGF2, FN1

Molecular functions related to Weber Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1activin bindingGO:004818510.0ENG, ACVRL1
2transforming growth factor beta bindingGO:00504319.9ENG, ACVRL1
3transforming growth factor beta-activated receptor activityGO:00050249.8ACVRL1, ENG
4protease bindingGO:00020209.4SERPINC1, TP53, FN1
5heparin bindingGO:00082019.0SERPINC1, VEGFA, FN1
6protein bindingGO:00055157.2FN1, IGF2, VEGFA, GNAQ, TP53, SERPINC1

Sources for Weber Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet