Aliases & Classifications for Weber Syndrome

MalaCards integrated aliases for Weber Syndrome:

Name: Weber Syndrome 49 69
Midbrain Stroke Syndromes 49

Classifications:



External Ids:

UMLS 69 C0455717

Summaries for Weber Syndrome

MalaCards based summary : Weber Syndrome, also known as midbrain stroke syndromes, is related to klippel-trenaunay-weber syndrome and sturge-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 Miconazole and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and endothelial, and related phenotypes are craniofacial and muscle

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 180)
# Related Disease Score Top Affiliating Genes
1 klippel-trenaunay-weber syndrome 33.2 KTWS RASA1 SST
2 sturge-weber syndrome 32.8 CYP1B1 FN1 GNAQ RASA1
3 arteriovenous malformation 30.0 ACVRL1 ENG RASA1
4 pulmonary arteriovenous malformation 29.8 ACVRL1 ENG
5 hereditary hemorrhagic telangiectasia 29.6 ACVRL1 ENG HHT3
6 neurofibromatosis, type iv, of riccardi 28.8 RASA1 SST
7 parkes weber syndrome 12.5
8 mental retardation syndrome, mietens-weber type 11.3
9 hemimegalencephaly 11.2
10 hemihyperplasia, isolated 11.2
11 heterochromia iridis 11.2
12 telangiectasia, hereditary hemorrhagic, type 1 11.0
13 angioosteohypertrophic syndrome 10.9
14 telangiectasia, hereditary hemorrhagic, type 2 10.9
15 telangiectasia, hereditary hemorrhagic, type 3 10.9
16 autism with port-wine stain 10.8
17 moyamoya disease 1 10.8
18 capillary malformation-arteriovenous malformation 10.8
19 epilepsy occipital calcifications 10.8
20 choroiditis 10.4
21 hemangioma 10.3
22 cerebritis 10.3
23 angiomatosis 10.2
24 epilepsy 10.2
25 retinitis 10.1
26 pulmonary hypertension, primary, 1 10.1 ACVRL1 ENG
27 heritable pulmonary arterial hypertension 10.1 ACVRL1 ENG
28 migraine with or without aura 1 10.0
29 periodontitis 10.0
30 arteriovenous malformations of the brain 10.0 ACVRL1 ENG
31 arteriovenous fistula 10.0
32 retinal detachment 10.0
33 aneurysm 10.0
34 venous malformations, multiple cutaneous and mucosal 10.0 ACVRL1 RASA1
35 telangiectasis 10.0 ACVRL1 ENG RASA1
36 gingivitis 9.9
37 tuberous sclerosis 9.9
38 pulmonary arteriovenous fistulas 9.9
39 headache 9.9
40 hepatitis 9.9
41 phacomatosis pigmentovascularis 9.9
42 hemiplegia 9.8
43 pulmonary arterio-veinous fistula 9.8
44 lymphangioma 9.8
45 pyogenic granuloma 9.8
46 status epilepticus 9.8
47 von hippel-lindau syndrome 9.8
48 hemiplegic migraine 9.8
49 aging 9.8
50 pulmonary embolism 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 FN1 GNAQ RASA1 ACVRL1 ENG
2 muscle MP:0005369 9.35 ENG FN1 GNAQ RASA1 ACVRL1
3 normal MP:0002873 9.02 ENG FN1 GNAQ SST ACVRL1

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
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
2
Tranexamic Acid Approved Phase 3 1197-18-8 5526
3
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
4
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 46835353 6436030 5284616
5 Coagulants Phase 3
6 Hemostatics Phase 3
7 Anti-Bacterial Agents Phase 2, Phase 3
8 Antifibrinolytic Agents Phase 3
9 Anti-Infective Agents Phase 2, Phase 3
10 Antifungal Agents Phase 2, Phase 3
11 Immunosuppressive Agents Phase 2, Phase 3
12 Antibiotics, Antitubercular Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
14 Angiogenesis Inhibitors Phase 2
15 Angiogenesis Modulating Agents Phase 2
16 Anticonvulsants Phase 1, Phase 2
17
Timolol Approved Phase 1 26839-75-8 5478 33624
18
Maleic acid Experimental Phase 1 110-16-7 444266
19 Adrenergic Agents Phase 1
20 Adrenergic Antagonists Phase 1
21 Adrenergic beta-Antagonists Phase 1
22 Tetrahydrozoline Phase 1
23 Neurotransmitter Agents Phase 1
24 Ophthalmic Solutions Phase 1
25 Anti-Arrhythmia Agents Phase 1
26 Antihypertensive Agents Phase 1
27 Lubricant Eye Drops Phase 1
28 Immunoglobulins
29 Antibodies
30 Mitogens
31 Endothelial Growth Factors
32 GTPase-Activating Proteins

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
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:

38
Brain, Eye, Endothelial, Spinal Cord, Skin, Thalamus, Testis

Publications for Weber Syndrome

Articles related to Weber Syndrome:

(show top 50) (show all 810)
# Title Authors Year
1
Early Trabeculotomy Ab Externo in the Treatment of Sturge-Weber Syndrome. ( 29221824 )
2018
2
Angiodysplastic Sturge Weber syndrome. ( 29351940 )
2018
3
Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement. ( 29414553 )
2018
4
Spinal Cavernous Angioma Associated with Klippel-Trenaunay-Weber Syndrome: Case Report and Literature Review. ( 29054771 )
2018
5
Screening for Sturge-Weber syndrome: A state-of-the-art review. ( 29034507 )
2018
6
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
7
Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome. ( 29403070 )
2018
8
Bilateral intracranial calcifications with bilateral facial cutaneous naevus: Sturge Weber syndrome. ( 28978576 )
2017
9
Sturge-Weber Syndrome ( 29083797 )
2017
10
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )
2017
11
Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma. ( 28868033 )
2017
12
Cannabidiol Treatment for Refractory Seizures in Sturge-Weber Syndrome. ( 28454984 )
2017
13
Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. ( 29136059 )
2017
14
Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber Syndrome. ( 28757309 )
2017
15
Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. ( 28079102 )
2017
16
Sturge Weber Syndrome: A Case Study. ( 28658923 )
2017
17
Imaging of Glutamate Concentration in Sturge-Weber Syndrome. ( 28070151 )
2017
18
Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome. ( 28807733 )
2017
19
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. ( 28064423 )
2017
20
A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )
2017
21
Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. ( 27903813 )
2017
22
Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome. ( 28941044 )
2017
23
Growing skull hemangioma: first and unique description in a patient with Klippel-TrAcnaunay-Weber syndrome. ( 27822901 )
2017
24
GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome. ( 28571101 )
2017
25
Giant popliteal vein aneurysm in Parkes-Weber syndrome. ( 29162342 )
2017
26
Cryotherapy as a conservative treatment modality for gingival enlargement in a patient with Sturge-Weber Syndrome. ( 28580218 )
2017
27
Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome. ( 28779688 )
2017
28
Spinal Arteriovenous Malformation Associated with Parkes Weber Syndrome: Report of Two Cases and Literature Review. ( 28645597 )
2017
29
Klippel-Trenaunay-Weber syndrome with atypical presentation of hypersplenism and nephrotic syndrome: a case report. ( 28823249 )
2017
30
Multimodal Imaging in Klippel-TrAcnaunay-Weber Syndrome: Clinical Photography, Computed Tomoangiography, Infrared Thermography, and 99mTc-Phytate Lymphoscintigraphy. ( 29036002 )
2017
31
Sturge-Weber Syndrome. ( 28854093 )
2017
32
Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome. ( 28459499 )
2017
33
Synthetic MRI showed increased myelin partial volume in the white matter of a patient with Sturge-Weber syndrome. ( 28844080 )
2017
34
Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome. ( 27864521 )
2017
35
Metabolic correlates of cognitive function in children with unilateral Sturge-Weber syndrome: Evidence for regional functional reorganization and crowding. ( 29274110 )
2017
36
Complicated Total Knee Arthroplasty in a Patient with Klippel-Trenaunay-Weber Syndrome: A Case Report. ( 29244707 )
2017
37
Sturge-Weber Syndrome with Choroidal Hemangioma. ( 28584769 )
2017
38
Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. ( 28711177 )
2017
39
Long-term intraocular pressure after combined trabeculotomy-trabeculectomy in glaucoma associated with Sturge-Weber syndrome. ( 28885669 )
2017
40
Optical Coherence Tomography Visualization of a Port-Wine Stain in a Patient With Sturge-Weber Syndrome. ( 28541265 )
2017
41
Verteporfin photodynamic therapy for the treatment of choroidal haemangioma associated with Sturge-Weber syndrome. ( 27375184 )
2016
42
Nodular Proliferation in Parkes Weber Syndrome. ( 27575310 )
2016
43
Alarming Skin Tatoo with Periodontal Link: Sturge Weber Syndrome. ( 27437380 )
2016
44
Sturge Weber Syndrome: An Unusual Case with Multisystem Manifestations. ( 27222632 )
2016
45
Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. ( 27274162 )
2016
46
Spectral Domain Optical Coherence Tomography of Choroidal and Outer Retinal Layer Thickness in the Sturge Weber Syndrome. ( 27159379 )
2016
47
A Cerebral Infarction in a Girl With Sturge-Weber Syndrome. ( 27663490 )
2016
48
Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. ( 27257371 )
2016
49
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. ( 26957145 )
2016
50
Correction of Facial Deformity in Sturge-Weber Syndrome. ( 27622111 )
2016

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 9.58 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 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.49 ACVRL1 ENG
5 negative regulation of cell adhesion GO:0007162 9.48 ACVRL1 RASA1
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 9.43 ACVRL1 ENG
9 retina vasculature development in camera-type eye GO:0061298 9.32 ACVRL1 CYP1B1
10 dorsal aorta morphogenesis GO:0035912 9.26 ACVRL1 ENG
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....