MCID: WBR001
MIFTS: 51

Weber Syndrome malady

Rare diseases category
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Summaries for Weber Syndrome

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MalaCards based summary: 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 skin, and related mouse phenotypes are limbs/digits/tail and skeleton.

Aliases & Classifications for Weber Syndrome

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Weber Syndrome, Aliases & Descriptions:

Name: Weber Syndrome 42 62
 
Midbrain Stroke Syndromes 42


Classifications:

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


Related Diseases for Weber Syndrome

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

(show top 50)    (show all 177)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-trenaunay syndrome31.6RASA1
2arteriovenous malformation31.4ACVRL1, ENG
3retinal detachment31.0FN1, VEGFA
4central retinal vein occlusion30.7VEGFA
5retinal vein occlusion30.3VEGFA, SERPINC1
6disseminated intravascular coagulation30.2FN1, SERPINC1
7neurofibromatosis30.0SST, RASA1
8melanoma29.8FN1, CYP1B1, VEGFA, GNAQ, TP53, ENG
9adenoma29.4ENG, SST, TP53, CYP1B1, IGF2
10sturge-weber syndrome11.3
11parkes weber syndrome10.8
12choroiditis10.7
13hemangioma10.7
14cerebritis10.7
15angiomatosis10.6
16vitreous detachment10.5FN1
17retinitis10.5
18migraine10.5
19endophthalmitis10.4VEGFA
20hypoglycemic coma10.4IGF2
21diabetic macular edema10.4VEGFA
22choroid plexus papilloma10.4TP53
23intracranial hemorrhage in brain cerebrovascular malformations10.4ENG, ACVRL1
24periodontitis10.4
25telangiectasis10.4ENG, ACVRL1
26telangiectasia, hereditary hemorrhagic, type 510.4ACVRL1, ENG
27hemimegalencephaly10.4
28arteriovenous fistula10.4
29tuberous sclerosis10.4
30vascular cancer10.4VEGFA, ENG
31hereditary hemorrhagic telangiectasia10.3
32gingivitis10.3
33aneurysm10.3
34headache10.3
35renal fibrosis10.3ENG, FN1
36phacomatosis pigmentovascularis10.3
37sturge-weber syndrome, somatic, mosaic10.3
38hemihypertrophy10.3
39embryonal rhabdomyosarcoma10.3ACVRL1, IGF2
40intestinal disease10.3SST
41laryngeal benign neoplasm10.2ENG, TP53
42hepatitis10.2
43lymphangioma10.2
44hemiplegic migraine10.2
45pyogenic granuloma10.2
46chronic myeloid leukemia10.2ENG, RASA1, FN1
47li-fraumeni syndrome10.2CYP1B1, IGF2
48oral cancer10.2ENG, TP53, CYP1B1
49proteinuria10.2FN1, VEGFA, ENG
50choriocarcinoma10.2IGF2, RASA1, ENG

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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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:

32
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:

36 (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 669)
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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Expression patterns in normal tissues for genes affiliated with Weber Syndrome

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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/GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1polybrene4410.1SERPINC1, FN1
2ellipticine4410.0TP53, CYP1B1
3oxaliplatin44 50 1111.8CYP1B1, VEGFA, TP53
4gabexate mesilate449.7SERPINC1, SST
5resveratrol44 61 24 1112.6CYP1B1, VEGFA, TP53
6docetaxel44 50 61 1112.6CYP1B1, VEGFA, TP53
7vinblastine44 50 1111.6FN1, TP53, SST
8p002449.6IGF2, CYP1B1, ENG
9exemestane44 50 61 1112.5CYP1B1, IGF2
10mg 13244 6110.5CYP1B1, VEGFA, TP53
11carboplatin44 50 1111.5VEGFA, TP53, SST
12hyaluronic acid44 2410.5ENG, VEGFA, FN1
13pioglitazone28 44 50 1112.5VEGFA, IGF2, FN1
14caffeine44 28 2 50 24 1114.5SST, TP53, CYP1B1
15irinotecan44 50 1111.4IGF2, VEGFA, TP53
16pegvisomant44 1110.4IGF2, SST
17aprotinin44 1110.4FN1, IGF2, SERPINC1
183,3-diindolylmethane449.4TP53, VEGFA
19tgf beta1449.4FN1, IGF2, ACVRL1, ENG
20polyethylene glycol449.4SERPINC1, IGF2, FN1
21octreotide44 61 28 1112.3IGF2, VEGFA, SST
22n acetylcysteine449.3SERPINC1, TP53, VEGFA, CYP1B1
23guanine44 24 1111.3RASA1, TP53, GNAQ, IGF2
24cyclophosphamide44 50 1111.3SST, TP53, VEGFA, CYP1B1
25genistein44 28 61 2 24 1114.2FN1, CYP1B1, VEGFA, SST
26ibmx44 61 2811.2SST, IGF2, FN1
27progestin449.1FN1, IGF2, VEGFA, SERPINC1
28prostacyclin449.1FN1, IGF2, VEGFA, SERPINC1
29ly294002449.1TP53, VEGFA, IGF2, FN1
30actinomycin d449.0FN1, IGF2, VEGFA, TP53
31imatinib44 50 1111.0FN1, IGF2, VEGFA
32rapamycin449.0FN1, IGF2, VEGFA, SST
33cisplatin44 50 61 1111.9TP53, VEGFA, IGF2, FN1
34paraffin448.9FN1, IGF2, VEGFA, TP53, ENG
35paclitaxel44 50 1110.8FN1, IGF2, CYP1B1, VEGFA, TP53
36heparin44 28 24 1111.8SERPINC1, VEGFA, IGF2, FN1
37tamoxifen44 50 28 1111.7IGF2, CYP1B1, VEGFA, TP53, SERPINC1
38oligonucleotide448.7IGF2, CYP1B1, GNAQ, TP53, ACVRL1, ENG
39doxorubicin44 50 1110.7FN1, CYP1B1, VEGFA, TP53, SST, ENG
405fluorouracil448.7IGF2, CYP1B1, VEGFA, TP53, SST
41adenylate448.7IGF2, CYP1B1, GNAQ, SERPINC1, SST
42pge2448.6FN1, IGF2, VEGFA, SERPINC1, SST
43retinoic acid44 249.5SST, TP53, CYP1B1, IGF2, FN1
44tyrosine448.4FN1, IGF2, CYP1B1, VEGFA, GNAQ, RASA1
45cycloheximide448.3FN1, IGF2, CYP1B1, VEGFA, TP53, SST
46arginine448.3FN1, IGF2, TP53, SERPINC1, SST, RASA1
47estrogen448.1FN1, IGF2, CYP1B1, VEGFA, TP53, SERPINC1
48dexamethasone44 50 28 1111.0FN1, IGF2, CYP1B1, VEGFA, SERPINC1, SST
49serine448.0FN1, IGF2, CYP1B1, TP53, SERPINC1, ACVRL1
50vegf447.7ENG, FN1, IGF2, VEGFA, TP53, SERPINC1

GO Terms for genes affiliated with Weber Syndrome

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Cellular components related to Weber Syndrome according to GeneCards/GeneDecks:

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

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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet