MCID: WBR001
MIFTS: 33

Weber Syndrome malady

Summaries for Weber Syndrome

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32MalaCards
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MalaCards: Weber Syndrome, also known as midbrain stroke syndromes, is related to klippel-trenaunay syndrome and glaucoma. An important gene associated with Weber Syndrome is ENG (endoglin), and among its related pathways are Glypican 1 network and TGF-beta Receptor Signaling Pathway. The compounds ellipticine and polybrene have been mentioned in the context of this disorder. Related mouse phenotypes are embryogenesis and renal/urinary system.

Aliases & Classifications for Weber Syndrome

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

weber syndrome 42 60
midbrain stroke syndromes 42


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 211)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-trenaunay syndrome31.4RASA1
2glaucoma31.1CYP1B1, FN1
3hemangioma30.9VEGFA
4arteriovenous malformation30.6ENG, ACVRL1
5hereditary hemorrhagic telangiectasia30.4ENG, ACVRL1
6retinal detachment30.4VEGFA, FN1
7von hippel-lindau disease30.1VEGFA
8multiple myeloma30.1TP53
9myeloma30.1FN1, VEGFA
10disseminated intravascular coagulation30.1FN1, SERPINC1
11melanoma30.1TP53, ENG, CYP1B1, FN1, VEGFA, GNAQ
12neurofibromatosis29.9RASA1
13hypertension29.9FN1
14central retinal vein occlusion29.9VEGFA
15ischemia29.9VEGFA, ENG
16beckwith-wiedemann syndrome29.9IGF2
17leukemia29.8TP53, ENG, CYP1B1, FN1
18li-fraumeni syndrome29.8IGF2, CYP1B1
19adenoma29.8CYP1B1, ENG, TP53, SST, IGF2
20image syndrome10.7
21choroiditis10.7
22cerebritis10.6
23sturge-weber syndrome10.5
24parkes weber syndrome10.5
25epilepsy syndrome10.5
26migraine10.4
27retinitis10.4
28periodontitis10.4
29arteriovenous fistula10.3
30tuberous sclerosis10.3
31gingivitis10.3
32sturge-weber syndrome, somatic, mosaic10.2
33hepatitis10.2
34lymphangioma10.2
35status epilepticus10.1
36adult syndrome10.1
37angiosarcoma10.1
38cervicitis10.1
39esotropia10.1
40hemiplegia10.1
41migraine with aura10.1
42pulmonary embolism10.1
43parkes weber syndrome, rasa1-related10.1
44intracranial aneurysm10.0ENG
45myeloid leukemia10.0FN1
46arthritis10.0FN1
47myelofibrosis10.0FN1
48blindness10.0VEGFA
49vasculitis10.0FN1
50adrenocortical carcinoma10.0TP53

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



Diseases related to weber syndrome

Clinical Features for Weber Syndrome

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Drugs & Therapeutics for Weber Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Weber Syndrome

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Anatomical Context for Weber Syndrome

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Animal Models for Weber Syndrome or affiliated genes

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36MGI
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Publications for Weber Syndrome

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Genetic Variations for Weber Syndrome

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Expression for genes affiliated with Weber Syndrome

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1BioGPS, 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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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 51QIAGEN
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Compounds for genes affiliated with Weber Syndrome

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44Novoseek, 11DrugBank, 49PharmGKB, 2BitterDB, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Weber Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1ellipticine4410.1CYP1B1, TP53
2polybrene4410.1FN1, SERPINC1
3Dalteparin1110.0SERPINC1, VEGFA
4gabexate mesilate449.8SERPINC1, SST
5oxaliplatin44 49 1111.8TP53, CYP1B1, VEGFA
63,3-diindolylmethane449.8VEGFA, TP53
7aristolochic acid44 210.7FN1, TP53
8serine449.7ACVRL1, RASA1, CYP1B1, FN1
9heparin44 28 11 2412.7FN1, VEGFA
10pge2449.7FN1, SST, VEGFA
11docetaxel44 49 59 1112.7VEGFA, CYP1B1, TP53
12exemestane49 44 59 1112.6IGF2, CYP1B1
13hyaluronic acid44 2410.6VEGFA, FN1, ENG
14pegvisomant44 1110.6SST, IGF2
15vinblastine44 49 1111.6TP53, FN1, SST
16p002449.6IGF2, CYP1B1, ENG
17mg 13244 5910.6VEGFA, CYP1B1, TP53
18carboplatin44 49 1111.5TP53, SST, VEGFA
19caffeine44 49 28 2 11 2414.5TP53, CYP1B1, SST
20pioglitazone44 49 28 1112.5VEGFA, IGF2, FN1
21irinotecan44 49 1111.4TP53, IGF2, VEGFA
22aprotinin44 1110.4SERPINC1, FN1, IGF2
23polyethylene glycol449.4IGF2, FN1, SERPINC1
24cyclophosphamide44 49 1111.4TP53, CYP1B1, SST
25tgf beta1449.4IGF2, FN1, ACVRL1, ENG
26octreotide44 59 28 1112.4VEGFA, SST, IGF2
27n acetylcysteine449.3TP53, SERPINC1, CYP1B1, VEGFA
28ibmx44 28 5911.3FN1, IGF2, SST
29genistein44 28 59 2 11 2414.2CYP1B1, FN1, SST, VEGFA
305-aza-2deoxycytidine449.1TP53, CYP1B1, IGF2
31progestin449.1VEGFA, IGF2, FN1, SERPINC1
32prostacyclin449.1VEGFA, IGF2, FN1, SERPINC1
33ly294002449.1VEGFA, IGF2, FN1, TP53
34actinomycin d449.1TP53, FN1, IGF2, VEGFA
35dexamethasone44 49 28 1112.0VEGFA, IGF2, FN1, CYP1B1, ENG
36rapamycin449.0VEGFA, SST, IGF2, FN1
37cisplatin44 49 59 1111.9TP53, FN1, IGF2, VEGFA
38paraffin448.9VEGFA, IGF2, FN1, ENG, TP53
39paclitaxel44 49 1110.8VEGFA, IGF2, FN1, CYP1B1, TP53
40imatinib44 49 1110.8VEGFA, IGF2, FN1
41guanine44 11 2410.8TP53, RASA1, IGF2, GNAQ
42tamoxifen44 49 28 1111.7VEGFA, IGF2, CYP1B1, SERPINC1, TP53
43doxorubicin44 49 1110.7VEGFA, SST, FN1, CYP1B1, ENG, TP53
445fluorouracil448.7VEGFA, SST, IGF2, CYP1B1, TP53
45retinoic acid44 249.5SST, IGF2, FN1, CYP1B1, TP53
46arginine448.3SST, IGF2, FN1, RASA1, SERPINC1, TP53
47oligonucleotide448.2GNAQ, IGF2, CYP1B1, ACVRL1, ENG, TP53
48adenylate448.1GNAQ, SST, IGF2, CYP1B1, SERPINC1
49tyrosine447.8GNAQ, VEGFA, IGF2, FN1, CYP1B1, RASA1
50vegf447.6TP53, VEGFA, SST, IGF2, FN1, ACVRL1

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:0310939.1FN1, IGF2, VEGFA
2extracellular spaceGO:0056157.6ENG, SERPINC1, FN1, IGF2, SST, VEGFA

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein phosphorylationGO:00193410.3VEGFA
2retina vasculature development in camera-type eyeGO:06129810.1CYP1B1, ACVRL1
3positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.9ENG, ACVRL1
4artery morphogenesisGO:0488449.8ENG, VEGFA
5positive regulation of BMP signaling pathwayGO:0305139.8ENG, ACVRL1
6vasculogenesisGO:0015709.8ENG, RASA1, VEGFA
7negative regulation of endothelial cell proliferationGO:0019379.6ENG, ACVRL1
8regulation of cell shapeGO:0083609.6RASA1, FN1, VEGFA
9transforming growth factor beta receptor signaling pathwayGO:0071799.6ACVRL1, ENG, TP53
10angiogenesisGO:0015259.4VEGFA, FN1, CYP1B1, ACVRL1
11platelet degranulationGO:0025769.3FN1, IGF2, VEGFA
12positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.3TP53, IGF2, VEGFA
13platelet activationGO:0301688.6GNAQ, VEGFA, IGF2, FN1
14blood coagulationGO:0075967.7TP53, SERPINC1, FN1, IGF2, VEGFA, GNAQ

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta bindingGO:05043110.0ACVRL1, ENG
2activin bindingGO:0481859.9ACVRL1, ENG
3transforming growth factor beta-activated receptor activityGO:0050249.8ENG, ACVRL1
4heparin bindingGO:0082019.0SERPINC1, VEGFA, FN1
5protein bindingGO:0055156.6TP53, ENG, ACVRL1, GNAQ, SERPINC1, IGF2

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet