MCID: WBR001
MIFTS: 47

Weber Syndrome malady

Summaries for Weber Syndrome

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33MalaCards
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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 Glypican 1 network and TGF-beta Receptor Signaling Pathway. The compounds ellipticine and polybrene have been mentioned in the context of this disorder. Affiliated tissues include spleen, brain and cortex, and related mouse phenotypes are embryogenesis and renal/urinary system.

Aliases & Classifications for Weber Syndrome

Sources:
43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

weber syndrome 43 61
midbrain stroke syndromes 43


Related Diseases for Weber Syndrome

Sources:
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 219)
idRelated DiseaseScoreTop Affiliating Genes
1klippel-trenaunay syndrome31.4RASA1
2arteriovenous malformation30.6ACVRL1, ENG
3hereditary hemorrhagic telangiectasia30.4ENG, ACVRL1
4neurofibromatosis29.9RASA1
5central retinal vein occlusion29.9VEGFA
6varicose veins29.9SST
7beckwith-wiedemann syndrome29.9IGF2
8thromboembolism29.9SERPINC1
9adenoma29.9SST, IGF2, CYP1B1, ENG, TP53
10sturge-weber syndrome11.3
11n syndrome10.9
12parkes weber syndrome10.7
13angiomatosis10.5
14char syndrome10.4
15hemimegalencephaly10.4
16tuberous sclerosis10.3
17image syndrome10.3
18sturge-weber syndrome, somatic, mosaic10.3
19phacomatosis pigmentovascularis10.2
20headache10.2
21hemihypertrophy10.2
22young syndrome10.2
23hemiplegic migraine10.2
24pyogenic granuloma10.2
25mass syndrome10.2
26early-onset glaucoma10.2
27cerebral angioma10.1
28status epilepticus10.1
29adult syndrome10.1
30angiosarcoma10.1
31pulmonary arteriovenous malformation10.1
32heterochromia iridis10.1
33glaucoma, congenital10.1
34parkes weber syndrome, rasa1-related10.1
35cerebral atrophy10.1
36seizure disorder10.1
37hyperopia10.1
38hypertension10.0FN1
39intracranial aneurysm10.0ENG
40myeloid leukemia10.0FN1
41arthritis10.0FN1
42myelofibrosis10.0FN1
43blindness10.0VEGFA
44vasculitis10.0FN1
45adrenocortical carcinoma10.0TP53
46vitreous detachment10.0FN1
47fibrosarcoma10.0FN1
48neuroblastoma10.0TP53
49von hippel-lindau disease10.0VEGFA
50multiple myeloma10.0TP53

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



Diseases related to weber syndrome

Clinical Features for Weber Syndrome

Drugs & Therapeutics for Weber Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Weber Syndrome

Anatomical Context for Weber Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Weber Syndrome:

33
Spleen, Brain, Cortex, Spinal cord, Heart, Small intestine, Colon, Kidney, Lung, Thyroid, Skin, Testis, B cells, Fetal brain, Occipital lobe, Thalamus, Fetal lung, Fetal thyroid, Adrenal cortex

Animal Models for Weber Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Weber Syndrome

Sources:
51PubMed
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Articles related to Weber Syndrome:

(show top 50)    (show all 665)
idTitleAuthorsYear
1
Sturge-Weber syndrome with pyogenic granuloma. (24124305)
2013
2
Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome. (23112245)
2013
3
Bilateral Sturge Weber syndrome- a rare case report. (23584661)
2013
4
Neonatal status epilepticus controlled with levetiracetam at Sturge Weber syndrome. (22804835)
2013
5
Sturge-Weber syndrome in patients with facial port-wine stain. (21906147)
2012
6
Lengthening of the normal tibia in a patient with hemihypertrophy caused by Klippel- Trenaunay-Weber syndrome: a case report. (22184171)
2011
7
Multiple cerebral and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome. (20493710)
2010
8
Anesthetic management of a patient with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Case report. (19374218)
2009
9
An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. (19389148)
2009
10
Management of a femoral diaphyseal fracture in a patient with Klippel-Trenaunay-Weber syndrome: a case report. (19918405)
2009
11
Color Doppler imaging of retrobulbar hemodynamics in Sturge-Weber syndrome-associated glaucoma. (18320507)
2008
12
Cognitive level and adaptive behaviour in the Klippel-Trenaunay-Weber Syndrome. An example of the potentials of an early intervention model applied to a complex pathology. (18608386)
2008
13
Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable? (18575872)
2008
14
Use of an electrosurgical scalpel in gingival overgrowth associated with Rendu-Osler-Weber syndrome. (19098572)
2008
15
Sturge-Weber syndrome, without a facial port-wine stain, with epilepsy onset in the fifth decade. (18484115)
2008
16
Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients. (17678489)
2007
17
The correlation between motor impairment and cerebral blood flow in Sturge-Weber syndrome. (17317246)
2007
18
Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions. (17660941)
2007
19
Pulmonary arteriovenous malformation of Osler-Weber-Rendu syndrome diagnosed by endobronchial ultrasound. (17298467)
2007
20
Behavioral manifestations of sturge-weber syndrome: a case report. (16964314)
2006
21
Prenatal sonographic diagnosis of Klippel-Trenaunay-Weber syndrome: a case report. (15916215)
2005
22
Images in cardiovascular medicine. Klippel-Trenaunay-Weber syndrome. (15668346)
2005
23
Angiosarcoma with malignant peripheral nerve sheath tumour developing in a patient with klippel-trAcnaunay-weber syndrome. (18521421)
2005
24
Klippel trenaunay Parkes-Weber syndrome. (17642585)
2004
25
Klippel-Trenaunay-Weber syndrome with labyrinthine bony overgrowth and mixed hearing loss, a case report. (15236896)
2004
26
Early characteristics of Sturge-Weber syndrome shown by perfusion MR imaging and proton MR spectroscopic imaging. (14561628)
2003
27
Sturge-Weber syndrome in a 14-year-old girl without facial naevus. (12418457)
2002
28
Evidence of somatic mosaicism in Sturge-Weber syndrome. (12221183)
2002
29
Cerebral blood flow and glucose metabolism in an infant with Sturge-Weber syndrome. (10698426)
2000
30
Prenatal sonographic appearances of Klippel-Trenaunay-Weber syndrome. (10327144)
1999
31
Embolotherapy for pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (9817050)
1998
32
Prenatal diagnosis of Klippel-TrAcnaunay-Weber syndrome as a cause for in utero heart failure and severe postnatal sequelae. (9467816)
1997
33
Klippel-Trenaunay-Weber syndrome. (9314616)
1997
34
Recurrent massive hemothorax in Rendu-Osler-Weber syndrome. (8969355)
1996
35
Ipsilateral facial and uveal arteriovenous and capillary angioma, microphthalmos, heterochromia of the iris, and hypotony: an oculocutaneous syndrome simulating Sturge-Weber syndrome. (8981698)
1996
36
Outcome of Sturge-Weber syndrome in 52 adults. (7645596)
1995
37
Progressive venous occlusion in a neonate with Sturge-Weber syndrome: demonstration with MR venography. (7484651)
1995
38
Pictures of the month. Case 2. Sturge-Weber syndrome. (8075741)
1994
39
Anesthesia for patients with Sturge-Weber disease and Klippel-Trenaunay syndrome. (1657059)
1991
40
Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. (1850461)
1991
41
Gd-DOTA-enhanced MR imaging in two cases of Sturge-Weber syndrome. (2114750)
1990
42
Sturge-Weber syndrome with extensive intracranial calcifications contralateral to the bulk of the facial nevus, normal intelligence, and absent seizure disorder. (3113217)
1987
43
Sturge-Weber syndrome. A case with thyroid and choroid plexus hemangiomas and leptomeningeal melanosis. (6895830)
1982
44
Nursing care study: Sturge-Weber syndrome (naevoid amentia). (917871)
1977
45
Facial angiomatosis with angioid streaks. Association of angioid streaks with a component of the Sturge-Weber syndrome. (5492464)
1970
46
Encephalotrigeminal angiomatosis. (Sturge-Weber Syndrome). (5802220)
1969
47
Sturge-Weber syndrome with normal karyotype. (6024883)
1967
48
STURGE-WEBER SYNDROME: REPORT OF A CASE. (14196247)
1964
49
Symposium: The Sturge-Weber Syndrome. (19994254)
1963
50
Nodular nonsuppurative panniculitis (Weber-Christian syndrome) with relapsing uveitis. (14409834)
1959

Genetic Variations for Weber Syndrome

Expression for genes affiliated with Weber Syndrome

Sources:
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

Sources:
38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Weber Syndrome

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 2BitterDB, 29IUPHAR, 24HMDB, 60Tocris Bioscience
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Compounds related to Weber Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1ellipticine4510.1CYP1B1, TP53
2polybrene4510.1FN1, SERPINC1
3Dalteparin1110.0SERPINC1, VEGFA
4gabexate mesilate459.8SERPINC1, SST
5oxaliplatin45 50 1111.8TP53, CYP1B1, VEGFA
63,3-diindolylmethane459.8VEGFA, TP53
7aristolochic acid45 210.7FN1, TP53
8serine459.7ACVRL1, RASA1, CYP1B1, FN1
9heparin45 29 11 2412.7FN1, VEGFA
10pge2459.7FN1, SST, VEGFA
11docetaxel45 50 60 1112.7VEGFA, CYP1B1, TP53
12exemestane50 45 60 1112.6IGF2, CYP1B1
13hyaluronic acid45 2410.6VEGFA, FN1, ENG
14pegvisomant45 1110.6SST, IGF2
15vinblastine45 50 1111.6TP53, FN1, SST
16p002459.6IGF2, CYP1B1, ENG
17mg 13245 6010.6VEGFA, CYP1B1, TP53
18carboplatin45 50 1111.5TP53, SST, VEGFA
19caffeine45 50 29 2 11 2414.5TP53, CYP1B1, SST
20pioglitazone45 50 29 1112.5VEGFA, IGF2, FN1
21irinotecan45 50 1111.4TP53, IGF2, VEGFA
22aprotinin45 1110.4SERPINC1, FN1, IGF2
23polyethylene glycol459.4IGF2, FN1, SERPINC1
24cyclophosphamide45 50 1111.4TP53, CYP1B1, SST
25tgf beta1459.4IGF2, FN1, ACVRL1, ENG
26octreotide45 60 29 1112.4VEGFA, SST, IGF2
27n acetylcysteine459.3TP53, SERPINC1, CYP1B1, VEGFA
28ibmx45 29 6011.3FN1, IGF2, SST
29genistein45 29 60 2 11 2414.2CYP1B1, FN1, SST, VEGFA
305-aza-2deoxycytidine459.1TP53, CYP1B1, IGF2
31progestin459.1VEGFA, IGF2, FN1, SERPINC1
32prostacyclin459.1VEGFA, IGF2, FN1, SERPINC1
33ly294002459.1VEGFA, IGF2, FN1, TP53
34actinomycin d459.1TP53, FN1, IGF2, VEGFA
35dexamethasone45 50 29 1112.0VEGFA, IGF2, FN1, CYP1B1, ENG
36rapamycin459.0VEGFA, SST, IGF2, FN1
37cisplatin45 50 60 1111.9TP53, FN1, IGF2, VEGFA
38paraffin458.9VEGFA, IGF2, FN1, ENG, TP53
39paclitaxel45 50 1110.8VEGFA, IGF2, FN1, CYP1B1, TP53
40imatinib45 50 1110.8VEGFA, IGF2, FN1
41guanine45 11 2410.8TP53, RASA1, IGF2, GNAQ
42tamoxifen45 50 29 1111.7VEGFA, IGF2, CYP1B1, SERPINC1, TP53
43doxorubicin45 50 1110.7VEGFA, SST, FN1, CYP1B1, ENG, TP53
445fluorouracil458.7VEGFA, SST, IGF2, CYP1B1, TP53
45retinoic acid45 249.5SST, IGF2, FN1, CYP1B1, TP53
46arginine458.3SST, IGF2, FN1, RASA1, SERPINC1, TP53
47oligonucleotide458.2GNAQ, IGF2, CYP1B1, ACVRL1, ENG, TP53
48adenylate458.1GNAQ, SST, IGF2, CYP1B1, SERPINC1
49tyrosine457.8GNAQ, VEGFA, IGF2, FN1, CYP1B1, RASA1
50vegf457.6TP53, VEGFA, SST, IGF2, FN1, ACVRL1

GO Terms for genes affiliated with Weber Syndrome

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet