Aliases & Classifications for Weber Syndrome

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Weber Syndrome, Aliases & Descriptions:

Name: Weber Syndrome 41 60
 
Midbrain Stroke Syndromes 41


Classifications:

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


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:

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

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
1polybrene4310.1SERPINC1, FN1
2ellipticine4310.0CYP1B1, TP53
3oxaliplatin43 49 1211.8VEGFA, TP53, CYP1B1
4gabexate mesilate439.7SERPINC1, SST
5aristolochic acid43 210.7FN1, TP53
6resveratrol43 59 24 1212.6VEGFA, TP53, CYP1B1
7docetaxel43 49 59 1212.6VEGFA, TP53, CYP1B1
8vinblastine43 49 1211.6SST, TP53, FN1
9p002439.6CYP1B1, ENG, IGF2
10mg 13243 5910.5TP53, CYP1B1, VEGFA
11carboplatin43 49 1211.5TP53, SST, VEGFA
12hyaluronic acid43 2410.5VEGFA, ENG, FN1
13pioglitazone28 43 49 1212.5FN1, IGF2, VEGFA
14caffeine43 28 2 49 24 1214.5SST, TP53, CYP1B1
15irinotecan43 49 1211.4TP53, IGF2, VEGFA
16aprotinin43 1210.4IGF2, SERPINC1, FN1
17pegvisomant43 1210.4SST, IGF2
183,3-diindolylmethane439.4VEGFA, TP53
19tgf beta1439.4FN1, IGF2, ACVRL1, ENG
20polyethylene glycol439.4FN1, SERPINC1, IGF2
21octreotide43 59 28 1212.3SST, IGF2, VEGFA
22n acetylcysteine439.3TP53, VEGFA, SERPINC1, CYP1B1
23guanine43 24 1211.3IGF2, TP53, GNAQ, RASA1
24cyclophosphamide43 49 1211.3SST, VEGFA, CYP1B1, TP53
25genistein43 28 59 2 24 1214.2CYP1B1, SST, FN1, VEGFA
26ibmx43 59 2811.2IGF2, SST, FN1
27progestin439.1IGF2, VEGFA, SERPINC1, FN1
28prostacyclin439.1FN1, IGF2, SERPINC1, VEGFA
29ly294002439.1TP53, VEGFA, IGF2, FN1
30actinomycin d439.0TP53, IGF2, FN1, VEGFA
31imatinib43 49 1211.0FN1, IGF2, VEGFA
32rapamycin439.0SST, FN1, IGF2, VEGFA
33cisplatin43 49 59 1211.9FN1, IGF2, VEGFA, TP53
34paraffin438.9ENG, FN1, IGF2, VEGFA, TP53
35paclitaxel43 49 1210.8TP53, CYP1B1, IGF2, VEGFA, FN1
36heparin43 28 24 1211.8VEGFA, FN1, SERPINC1, IGF2
37tamoxifen43 49 28 1211.7IGF2, SERPINC1, CYP1B1, TP53, VEGFA
38oligonucleotide438.7ENG, ACVRL1, TP53, GNAQ, IGF2, CYP1B1
39doxorubicin43 49 1210.7CYP1B1, ENG, SST, TP53, VEGFA, FN1
405fluorouracil438.7SST, IGF2, CYP1B1, VEGFA, TP53
41adenylate438.7SST, IGF2, CYP1B1, GNAQ, SERPINC1
42pge2438.6IGF2, FN1, SERPINC1, SST, VEGFA
43retinoic acid43 249.5FN1, TP53, SST, CYP1B1, IGF2
44tyrosine438.4CYP1B1, VEGFA, ENG, RASA1, FN1, GNAQ
45cycloheximide438.3TP53, CYP1B1, IGF2, FN1, VEGFA, SST
46arginine438.3FN1, TP53, IGF2, SERPINC1, SST, RASA1
47estrogen438.1TP53, ENG, FN1, IGF2, CYP1B1, VEGFA
48dexamethasone43 49 28 1211.0FN1, IGF2, VEGFA, SST, SERPINC1, CYP1B1
49serine438.0FN1, ENG, RASA1, IGF2, CYP1B1, TP53
50vegf437.7TP53, 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

Products for genes affiliated with Weber Syndrome

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Sources for Weber Syndrome

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3CDC
13ExPASy
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
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39NDF-RT
42NINDS
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46OMIM via Orphanet
50PubMed
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56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet