MCID: WBR001
MIFTS: 39

Weber Syndrome

Categories: Rare diseases

Aliases & Classifications for Weber Syndrome

MalaCards integrated aliases for Weber Syndrome:

Name: Weber Syndrome 54 74
Midbrain Stroke Syndromes 54

Classifications:



External Ids:

UMLS 74 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 Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and endothelial, and related phenotypes are craniofacial and muscle

Wikipedia : 77 Weber''s syndrome, also known as superior alternating hemiplegia, is a form of stroke characterized by... 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 202)
# Related Disease Score Top Affiliating Genes
1 parkes weber syndrome 34.2 CCNH RASA1
2 klippel-trenaunay-weber syndrome 33.7 KTWS RASA1 SST
3 sturge-weber syndrome 33.3 CYP1B1 FN1 GNAQ RASA1
4 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 31.5 ACVRL1 ENG RASA1
5 arteriovenous malformation 30.4 ACVRL1 ENG RASA1
6 telangiectasis 30.2 ACVRL1 ENG
7 hereditary hemorrhagic telangiectasia 29.9 ACVRL1 ENG
8 pulmonary arteriovenous malformation 29.7 ACVRL1 ENG
9 angioosteohypertrophic syndrome 11.6
10 telangiectasia, hereditary hemorrhagic, type 1 11.5
11 mental retardation syndrome, mietens-weber type 11.5
12 hemimegalencephaly 11.4
13 telangiectasia, hereditary hemorrhagic, type 2 11.4
14 hemihyperplasia, isolated 11.4
15 heterochromia iridis 11.3
16 moyamoya disease 1 11.3
17 capillary malformation-arteriovenous malformation 1 11.3
18 telangiectasia, hereditary hemorrhagic, type 3 11.0
19 capillary malformation-arteriovenous malformation 2 11.0
20 autism with port-wine stain 11.0
21 epilepsy occipital calcifications 11.0
22 hemangioma 10.5
23 epilepsy 10.4
24 phacomatosis pigmentovascularis 10.3
25 retinal detachment 10.2
26 arteriovenous fistula 10.2
27 tuberous sclerosis 10.1
28 heritable pulmonary arterial hypertension 10.1 ACVRL1 ENG
29 headache 10.1
30 mongolian spot 10.0 GNAQ SST
31 von hippel-lindau syndrome 10.0
32 glaucoma 3, primary congenital, a 10.0
33 status epilepticus 10.0
34 gingival overgrowth 10.0
35 pulmonary embolism 10.0
36 pulmonary arterio-veinous fistula 10.0
37 seizure disorder 10.0
38 pulmonary hypertension, primary, 1 10.0 ACVRL1 ENG
39 venous malformations, multiple cutaneous and mucosal 10.0 ACVRL1 RASA1
40 arteriovenous malformations of the brain 10.0 ACVRL1 ENG RASA1
41 tuberous sclerosis 1 9.9
42 varicose veins 9.9
43 hemorrhage, intracerebral 9.9
44 angiosarcoma 9.9
45 hemiplegia 9.9
46 lymphangioma 9.9
47 hemiplegic migraine 9.9
48 angiodysplasia 9.9 ACVRL1 ENG SST
49 neurofibromatosis, type i 9.9
50 neurofibromatosis, type iv, of riccardi 9.9

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:

47
# 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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 5284616 6436030
3
Everolimus Approved Phase 2, Phase 3 159351-69-6 70789204 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
5 Antifibrinolytic Agents Phase 3
6 Coagulants Phase 3
7 Hemostatics Phase 3
8 Immunologic Factors Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Anti-Bacterial Agents Phase 2, Phase 3
11 Immunosuppressive Agents Phase 2, Phase 3
12 Antifungal Agents Phase 2, Phase 3
13 Anti-Infective Agents Phase 2, Phase 3
14 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents Phase 2
17 Anticonvulsants Phase 1, Phase 2
18 Epidiolex Phase 1, Phase 2
19
Timolol Approved Phase 1 26839-75-8 5478 33624
20
Maleic acid Experimental, Investigational Phase 1 110-17-8, 110-16-7 444972
21 Neurotransmitter Agents Phase 1
22 Lubricant Eye Drops Phase 1
23 Adrenergic Agents Phase 1
24 Adrenergic Antagonists Phase 1
25 Antihypertensive Agents Phase 1
26 Anti-Arrhythmia Agents Phase 1
27 Ophthalmic Solutions Phase 1
28 Adrenergic beta-Antagonists Phase 1
29 Immunoglobulins
30 Antibodies
31 Endothelial Growth Factors
32 Mitogens
33 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 Terminated 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:

42
Brain, Kidney, Endothelial, Eye, Spinal Cord, Skin, Tongue

Publications for Weber Syndrome

Articles related to Weber Syndrome:

(show top 50) (show all 1020)
# Title Authors Year
1
Flunarizine for Headache Prophylaxis in Children With Sturge-Weber Syndrome. ( 30686627 )
2019
2
Episcleral hemangioma in Sturge Weber syndrome. ( 30715483 )
2019
3
Vesical Hemangioma in a Patient with Klippel-Trenaunay-Weber Syndrome. ( 30737037 )
2019
4
Choroidal Hemangioma in a Black Patient With Sturge-Weber Syndrome: Challenges in Diagnosis. ( 30893453 )
2019
5
Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. ( 31053110 )
2019
6
Hand Ischemia due to Steal Syndrome Associated with Multiple Arteriovenous Malformations in a Patient with Parkes-Weber Syndrome. ( 30760156 )
2019
7
Klippel-Trenaunay-Weber Syndrome with Atypical Presentation of Cerebral Cavernous Angioma: A Case Report and Literature Review. ( 30905648 )
2019
8
Lymphaticovenular anastomosis for Klippel-Trenaunay-Weber syndrome. ( 31015075 )
2019
9
Parkes Weber syndrome presenting as Stewart-Bluefarb acroangiodermatitis. ( 30852501 )
2019
10
Parkes Weber Syndrome. ( 31086946 )
2019
11
Gαq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells. ( 30112971 )
2019
12
Ahmed valve implantation in childhood glaucoma associated with Sturge-Weber syndrome: our experience. ( 30337636 )
2019
13
Sturge-Weber syndrome. ( 30357409 )
2019
14
Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms. ( 30378435 )
2019
15
Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset. ( 30482419 )
2019
16
Sturge-Weber Syndrome Coexisting With Moyamoya Disease in the Fifth Decade: A Case Report and Literature Review. ( 30586028 )
2019
17
Asymmetric cavernous sinus enlargement: a novel finding in Sturge-Weber syndrome. ( 30747269 )
2019
18
Oral healthcare management of a child with phakomatosis pigmentovascularis associated with bilateral Sturge-Weber syndrome. ( 30865332 )
2019
19
Role of the cerebral ultrasound in a case of Sturge-Weber syndrome. ( 30962208 )
2019
20
Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. ( 31050360 )
2019
21
The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. ( 31067686 )
2019
22
A 20 Years Young Lady with Recurrent Convulsion since Childhood (Sturge-Weber Syndrome). ( 31086166 )
2019
23
Soft tissue angiosarcoma of the breast in a patient with Klippel-Trenaunay-Weber syndrome. ( 30361716 )
2018
24
A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection? ( 29476210 )
2018
25
Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. ( 30195931 )
2018
26
Klippel-Trenaunay-Weber syndrome as a cause of chronic thromboembolic pulmonary hypertension. ( 29572375 )
2018
27
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
28
Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study. ( 29674168 )
2018
29
Partial thickness sclerectomy to treat exudative retinal detachment secondary a submacular choroidal hemangioma in a Sturge-Weber syndrome. ( 30564966 )
2018
30
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. ( 29054771 )
2018
31
Management of Pregnancy with Klippel-Trenaunay-Weber Syndrome: A Case Report and Review. ( 30112237 )
2018
32
Parkes Weber syndrome: a case of right lower limb hypertrophy. ( 26471502 )
2018
33
Giant popliteal vein aneurysm in Parkes-Weber syndrome. ( 29162342 )
2018
34
Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum. ( 30224889 )
2018
35
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. ( 28064423 )
2018
36
Long-term intraocular pressure after combined trabeculotomy-trabeculectomy in glaucoma associated with Sturge-Weber syndrome. ( 28885669 )
2018
37
Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome. ( 28941044 )
2018
38
Screening for Sturge-Weber syndrome: A state-of-the-art review. ( 29034507 )
2018
39
Early Trabeculotomy Ab Externo in the Treatment of Sturge-Weber Syndrome. ( 29221824 )
2018
40
Metabolic correlates of cognitive function in children with unilateral Sturge-Weber syndrome: Evidence for regional functional reorganization and crowding. ( 29274110 )
2018
41
Angiodysplastic Sturge Weber syndrome. ( 29351940 )
2018
42
Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome. ( 29403070 )
2018
43
Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement. ( 29414553 )
2018
44
Brush sign in Sturge-Weber syndrome. ( 29460138 )
2018
45
Von Hippel-Lindau disease and Sturge-Weber syndrome. ( 29478617 )
2018
46
Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome. ( 29487815 )
2018
47
A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1. ( 29536368 )
2018
48
Acute primary angle-closure in Sturge-Weber syndrome. ( 29541691 )
2018
49
Deep cerebral vein expansion with metabolic and neurocognitive recovery in Sturge-Weber syndrome. ( 29687028 )
2018
50
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. ( 29725622 )
2018

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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