MCID: WBR001
MIFTS: 40

Weber Syndrome

Categories: Rare diseases

Aliases & Classifications for Weber Syndrome

MalaCards integrated aliases for Weber Syndrome:

Name: Weber Syndrome 53 73
Midbrain Stroke Syndromes 53

Classifications:



External Ids:

UMLS 73 C0455717

Summaries for Weber Syndrome

MalaCards based summary : Weber Syndrome, also known as midbrain stroke syndromes, is related to parkes weber syndrome and klippel-trenaunay-weber syndrome. An important gene associated with Weber Syndrome is RASA1 (RAS P21 Protein Activator 1), and among its related pathways/superpathways is Syndecan-2-mediated signaling events. The drugs Tranexamic Acid and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are craniofacial and muscle

Wikipedia : 76 Weber''s syndrome (superior alternating hemiplegia) is a form of stroke characterized by the presence of... more...

Related Diseases for Weber Syndrome

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

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 parkes weber syndrome 34.1 CCNH RASA1
2 klippel-trenaunay-weber syndrome 33.8 KTWS RASA1 SST
3 sturge-weber syndrome 33.6 CYP1B1 FN1 GNAQ RASA1
4 capillary malformation-arteriovenous malformation 31.6 CCNH RASA1
5 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.5 ACVRL1 ENG RASA1
6 arteriovenous malformation 30.3 ACVRL1 ENG RASA1
7 hereditary hemorrhagic telangiectasia 30.1 ACVRL1 ENG
8 pulmonary arteriovenous malformation 29.7 ACVRL1 ENG
9 mental retardation syndrome, mietens-weber type 11.5
10 angioosteohypertrophic syndrome 11.5
11 hemimegalencephaly 11.3
12 heterochromia iridis 11.3
13 telangiectasia, hereditary hemorrhagic, type 1 11.2
14 telangiectasia, hereditary hemorrhagic, type 2 11.0
15 telangiectasia, hereditary hemorrhagic, type 3 11.0
16 hemihyperplasia, isolated 11.0
17 moyamoya disease 1 11.0
18 autism with port-wine stain 11.0
19 epilepsy occipital calcifications 11.0
20 hemangioma 10.4
21 epilepsy 10.3
22 phacomatosis pigmentovascularis 10.3
23 retinal detachment 10.2
24 arteriovenous fistula 10.2
25 tuberous sclerosis 10.1
26 heritable pulmonary arterial hypertension 10.0 ACVRL1 ENG
27 mongolian spot 10.0 GNAQ SST
28 telangiectasis 10.0 ACVRL1 ENG
29 pulmonary hypertension, primary, 1 10.0 ACVRL1 ENG
30 glaucoma 3, primary congenital, a 10.0
31 status epilepticus 10.0
32 pulmonary embolism 10.0
33 pulmonary arterio-veinous fistula 10.0
34 headache 10.0
35 venous malformations, multiple cutaneous and mucosal 10.0 ACVRL1 RASA1
36 arteriovenous malformations of the brain 10.0 ACVRL1 ENG RASA1
37 tuberous sclerosis 1 9.9
38 angiosarcoma 9.9
39 hemiplegia 9.9
40 lymphangioma 9.9
41 hemiplegic migraine 9.9
42 seizure disorder 9.9
43 angiodysplasia 9.9 ACVRL1 ENG SST
44 neurofibromatosis, type i 9.8
45 persistent hyperplastic primary vitreous, autosomal recessive 9.8
46 myeloma, multiple 9.8
47 hypomelanosis of ito 9.8
48 stroke, ischemic 9.8
49 pulmonary hypertension 9.8
50 retinal vein occlusion 9.8

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



Diseases related to Weber Syndrome

Symptoms & Phenotypes for Weber Syndrome

MGI Mouse Phenotypes related to Weber Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 ACVRL1 ENG FN1 GNAQ RASA1
2 muscle MP:0005369 9.02 ACVRL1 ENG FN1 GNAQ RASA1

Drugs & Therapeutics for Weber Syndrome

Drugs for Weber Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
4
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
5 Antifibrinolytic Agents Phase 3
6 Coagulants Phase 3
7 Hemostatics Phase 3
8 Anti-Infective Agents Phase 2, Phase 3
9 Immunologic Factors Phase 2, Phase 3
10 Antibiotics, Antitubercular Phase 2, Phase 3
11 Antifungal Agents Phase 2, Phase 3
12 Anti-Bacterial Agents Phase 2, Phase 3
13 Immunosuppressive Agents Phase 2, Phase 3
14 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
15 Angiogenesis Modulating Agents Phase 2
16 Angiogenesis Inhibitors Phase 2
17 Anticonvulsants Phase 1, Phase 2
18
Timolol Approved Phase 1 26839-75-8 33624 5478
19
Maleic acid Experimental Phase 1 110-16-7 444266
20 Anti-Arrhythmia Agents Phase 1
21 Adrenergic beta-Antagonists Phase 1
22 Adrenergic Agents Phase 1
23 Neurotransmitter Agents Phase 1
24 Ophthalmic Solutions Phase 1
25 Antihypertensive Agents Phase 1
26 Adrenergic Antagonists Phase 1
27 Lubricant Eye Drops Phase 1
28 Immunoglobulins
29 Antibodies
30 Endothelial Growth Factors
31 Mitogens
32 GTPase-Activating Proteins Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3 Tranexamic acid first, than placebo;First placebo, than Tranexamic acid.
2 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
3 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
4 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Completed NCT01485224 Phase 2 Thalidomide
5 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
6 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
7 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
8 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Recruiting NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
9 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Unknown status NCT01761981
10 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
11 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
12 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
13 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
14 Immunmodulation in Patients With HHT Recruiting NCT02983253
15 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
16 Lymphatic Anomalies Registry Recruiting NCT02399527
17 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857 Not Applicable
18 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT02690246

Search NIH Clinical Center for Weber Syndrome

Genetic Tests for Weber Syndrome

Anatomical Context for Weber Syndrome

MalaCards organs/tissues related to Weber Syndrome:

41
Brain, Eye, Spinal Cord, Skin, Kidney, Thalamus, Lung

Publications for Weber Syndrome

Articles related to Weber Syndrome:

(show top 50) (show all 1001)
# Title Authors Year
1
Screening for Sturge-Weber syndrome: A state-of-the-art review. ( 29034507 )
2018
2
Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome. ( 29487815 )
2018
3
Weber syndrome secondary to brain stem tuberculoma. ( 29941767 )
2018
4
Early Trabeculotomy Ab Externo in the Treatment of Sturge-Weber Syndrome. ( 29221824 )
2018
5
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
6
Acute primary angle-closure in Sturge-Weber syndrome. ( 29541691 )
2018
7
Severe Hepatic and Pulmonary Involvement in Rendu-Osler-Weber Syndrome. ( 29515340 )
2018
8
A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1. ( 29536368 )
2018
9
Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. ( 29753575 )
2018
10
Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension. ( 29572375 )
2018
11
Reduction of bilateral dislocation of TMJ and Rendu Osler Weber syndrome: case report and physiopathological model. ( 29977502 )
2018
12
A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection? ( 29476210 )
2018
13
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. ( 29054771 )
2018
14
Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome. ( 29403070 )
2018
15
Angiodysplastic Sturge Weber syndrome. ( 29351940 )
2018
16
Brush sign in Sturge-Weber syndrome. ( 29460138 )
2018
17
Three-dimensional Photogrammetric Analysis of Facial Soft-to-Hard Tissue Ratios After Bimaxillary Surgery in Facial Asymmetry Patients With and Without Sturge-Weber Syndrome. ( 29794508 )
2018
18
Von Hippel-Lindau disease and Sturge-Weber syndrome. ( 29478617 )
2018
19
Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement. ( 29414553 )
2018
20
Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome. ( 30361716 )
2018
21
Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. ( 30195931 )
2018
22
Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review. ( 30112237 )
2018
23
Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum. ( 30224889 )
2018
24
Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study. ( 29674168 )
2018
25
Deep cerebral vein expansion with metabolic and neurocognitive recovery in Sturge-Weber syndrome. ( 29687028 )
2018
26
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. ( 29725622 )
2018
27
Sturge-Weber syndrome-associated glaucoma and intraocular osseous metaplasia: a unique complicated case. ( 29769188 )
2018
28
A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. ( 29803545 )
2018
29
Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains. ( 30020536 )
2018
30
The Bone Does Not Predict the Brain in Sturge-Weber Syndrome. ( 30026385 )
2018
31
Gαq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells. ( 30112971 )
2018
32
Anesthesia Management of Vitrectomy in a Patient with Sturge-Weber Syndrome. ( 30116281 )
2018
33
Detailed Clinical and Electrophysiological Illustration of a Patient with Sturge-Weber Syndrome Presenting with Prolonged Transient Neurological Symptoms. ( 30271058 )
2018
34
An unusual case of acoria in Sturge-Weber syndrome. ( 30295080 )
2018
35
Ahmed valve implantation in childhood glaucoma associated with Sturge-Weber syndrome: our experience. ( 30337636 )
2018
36
Sturge-Weber syndrome. ( 30357409 )
2018
37
Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms. ( 30378435 )
2018
38
Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset. ( 30482419 )
2018
39
Rendu-Osler-Weber syndrome. ( 30392695 )
2018
40
Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. ( 28711177 )
2017
41
Multimodal Imaging in Klippel-TrAcnaunay-Weber Syndrome: Clinical Photography, Computed Tomoangiography, Infrared Thermography, and 99mTc-Phytate Lymphoscintigraphy. ( 29036002 )
2017
42
Optical Coherence Tomography Visualization of a Port-Wine Stain in a Patient With Sturge-Weber Syndrome. ( 28541265 )
2017
43
Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. ( 27903813 )
2017
44
Spinal Arteriovenous Malformation Associated with Parkes Weber Syndrome: Report of Two Cases and Literature Review. ( 28645597 )
2017
45
A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )
2017
46
Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber Syndrome. ( 28757309 )
2017
47
Sturge-Weber Syndrome ( 29083797 )
2017
48
Sturge-Weber Syndrome with Choroidal Hemangioma. ( 28584769 )
2017
49
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. ( 28064423 )
2017
50
Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome. ( 28941044 )
2017

Variations for Weber Syndrome

Expression for Weber Syndrome

Search GEO for disease gene expression data for Weber Syndrome.

Pathways for Weber Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.14 FN1 RASA1

GO Terms for Weber Syndrome

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.61 ACVRL1 CYP1B1 ENG
2 negative regulation of cell migration GO:0030336 9.54 ACVRL1 CYP1B1 ENG
3 vasculogenesis GO:0001570 9.51 ENG RASA1
4 negative regulation of cell adhesion GO:0007162 9.49 ACVRL1 RASA1
5 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.48 ACVRL1 ENG
6 positive regulation of BMP signaling pathway GO:0030513 9.46 ACVRL1 ENG
7 angiogenesis GO:0001525 9.46 ACVRL1 CYP1B1 ENG FN1
8 endocardial cushion morphogenesis GO:0003203 9.4 ACVRL1 ENG
9 dorsal aorta morphogenesis GO:0035912 9.32 ACVRL1 ENG
10 retina vasculature development in camera-type eye GO:0061298 9.26 ACVRL1 CYP1B1
11 endocardial cushion to mesenchymal transition GO:0090500 8.96 ACVRL1 ENG
12 blood vessel morphogenesis GO:0048514 8.8 ACVRL1 CYP1B1 RASA1

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta binding GO:0050431 8.96 ACVRL1 ENG
2 activin binding GO:0048185 8.62 ACVRL1 ENG

Sources for Weber Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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