MCID: WBR001
MIFTS: 38

Weber Syndrome

Categories: Rare diseases

Aliases & Classifications for Weber Syndrome

MalaCards integrated aliases for Weber Syndrome:

Name: Weber Syndrome 20 70
Midbrain Stroke Syndromes 20

Classifications:



External Ids:

UMLS 70 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 are EphB-EphrinB Signaling and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and heart, and related phenotypes are craniofacial and limbs/digits/tail

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 405)
# Related Disease Score Top Affiliating Genes
1 parkes weber syndrome 32.8 RASA1 EPHB4 CCNH
2 klippel-trenaunay-weber syndrome 32.4 SST RASA1 KTWS GNAQ
3 capillary malformation-arteriovenous malformation 1 32.2 RASA1 EPHB4 CCNH
4 sturge-weber syndrome 31.9 RASA1 GNAQ GNA11 FN1 CYP1B1
5 telangiectasia, hereditary hemorrhagic, type 2 31.8 ENG ACVRL1
6 hemangioma 30.8 GNAQ GNA11 ENG
7 arteriovenous malformation 30.5 RASA1 EPHB4 ENG CCNH ACVRL1
8 pulmonary arteriovenous malformation 30.3 ENG ACVRL1
9 angiodysplasia 30.3 SST ENG ACVRL1
10 hereditary hemorrhagic telangiectasia 30.2 HHT3 EPHB4 ENG ACVRL1
11 cerebral angioma 30.1 GNAQ CYP1B1
12 corneal edema 29.8 FN1 CYP1B1
13 mongolian spot 29.8 GNAQ GNA11
14 hypomelanosis of ito 29.7 GNAQ GNA11
15 proteus syndrome 29.6 RASA1 GNAQ
16 microvascular complications of diabetes 1 29.2 SST FN1 EPHB4
17 angioosteohypertrophic syndrome 11.3
18 mental retardation syndrome, mietens-weber type 11.2
19 telangiectasia, hereditary hemorrhagic, type 1 11.2
20 hemihyperplasia, isolated 11.1
21 hemimegalencephaly 11.0
22 telangiectasia, hereditary hemorrhagic, type 3 11.0
23 heterochromia iridis 11.0
24 moyamoya disease 1 11.0
25 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.0
26 epilepsy with bilateral occipital calcifications 11.0
27 capillary malformation-arteriovenous malformation 2 11.0
28 autism with port-wine stain 11.0
29 angiomatosis 10.8
30 intraocular pressure quantitative trait locus 10.7
31 retinal detachment 10.6
32 varicose veins 10.5
33 seizure disorder 10.5
34 telangiectasis 10.5
35 overgrowth syndrome 10.4
36 migraine with or without aura 1 10.4
37 hemiplegia 10.4
38 phacomatosis pigmentovascularis 10.4
39 epilepsy 10.3
40 status epilepticus 10.3
41 cerebral atrophy 10.3
42 gingival overgrowth 10.3
43 basal cell carcinoma, multiple 10.3 RASA1 CCNH
44 tuberous sclerosis 10.3
45 basal cell carcinoma 1 10.2 RASA1 CCNH
46 strabismus 10.2
47 pulmonary arteriovenous fistulas 10.2
48 lymphangioma 10.2
49 mechanical strabismus 10.2
50 headache 10.2

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 9.73 ACVRL1 ENG FN1 GNA11 GNAQ RASA1
2 limbs/digits/tail MP:0005371 9.55 ENG FN1 GNA11 GNAQ RASA1
3 muscle MP:0005369 9.5 ACVRL1 ENG EPHB4 FN1 GNA11 GNAQ
4 normal MP:0002873 9.1 ACVRL1 ENG FN1 GNA11 GNAQ SST

Drugs & Therapeutics for Weber Syndrome

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
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 5284616 6436030
4 Pharmaceutical Solutions Phase 2, Phase 3
5 Antibiotics, Antitubercular Phase 2, Phase 3
6 Anti-Bacterial Agents Phase 2, Phase 3
7 Immunosuppressive Agents Phase 2, Phase 3
8 Antifungal Agents Phase 2, Phase 3
9 Immunologic Factors Phase 2, Phase 3
10 Anti-Infective Agents Phase 2, Phase 3
11 Epidiolex Phase 1, Phase 2
12 Anticonvulsants Phase 1, Phase 2
13
Timolol Approved Phase 1 26839-75-8 33624 5478
14
Maleic acid Experimental Phase 1 110-16-7 444266
15 Anti-Arrhythmia Agents Phase 1
16 Lubricant Eye Drops Phase 1
17 Adrenergic Antagonists Phase 1
18 Adrenergic beta-Antagonists Phase 1
19 Ophthalmic Solutions Phase 1
20 Adrenergic Agents Phase 1
21 Neurotransmitter Agents Phase 1
22 Antihypertensive Agents Phase 1
23
Glycolic acid Approved, Investigational Early Phase 1 79-14-1 757
24 GTPase-Activating Proteins
25 Immunoglobulins
26 Antibodies
27 Mitomycins Early Phase 1
28 Mitogens
29 Endothelial Growth Factors

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Active, not recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
2 Phase II, Randomized, Triple Blind, Intra-individually Placebo-controlled Clinical Trial to Assess the Efficacy and Safety of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome. Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
3 Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome: A Phase II Trial Recruiting NCT04447846 Phase 2 Cannabidiol
4 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
5 An Open-Label Controlled Study of Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome Withdrawn NCT01997255 Phase 2 Everolimus
6 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
7 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Terminated NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
8 French National Prospective Cohort of Children With Port Wine Stain on a Limb = "Cohorte Nationale d'Enfants Avec Angiome Plan de Membre inférieur" Unknown status NCT01364857
9 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
10 Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in SWS: The Next Step Toward Biomarker Development Completed NCT01345305
11 Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome Recruiting NCT04717427
12 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626
13 Longitudinal Neuroimaging in Sturge-Weber Syndrome Recruiting NCT04517565
14 Ahmed Valve Implantation Coated With Poly Lactic -Co-glycolic Acid (PLGA) Saturated With Mitomycin-C in the Management of Adult Onset Glaucoma in Sturge Weber Syndrome Recruiting NCT04735601 Early Phase 1
15 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527
16 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
17 The Brain Vascular Malformations Clinical Research Network: Predictors of Clinical Course, Project 2: Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Active, not recruiting NCT01425944

Search NIH Clinical Center for Weber Syndrome

Genetic Tests for Weber Syndrome

Anatomical Context for Weber Syndrome

MalaCards organs/tissues related to Weber Syndrome:

40
Brain, Skin, Heart, Eye, Spinal Cord, Kidney, Endothelial

Publications for Weber Syndrome

Articles related to Weber Syndrome:

(show top 50) (show all 1973)
# Title Authors PMID Year
1
Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy in Sturge-Weber Syndrome. 61
33677229 2021
2
[Periodontal rehabilitation in a deaf patient with symptomatic epilepsy in Sturge-Weber syndrome - a case report]. 61
33789417 2021
3
Neuroimaging in infants and children in select neurocutaneous disorders. 61
33180972 2021
4
Computational fluid dynamics modeling aiding surgical planning in a toddler with Parkes Weber syndrome. 61
33747785 2021
5
A case of pulmonary arteriovenous malformation in the setting of Rendu Osler Weber syndrome. 61
33363687 2021
6
Anesthetic considerations for cesarean delivery in a parturient with hereditary hemorrhagic telangiectasia: a case report. 61
33650024 2021
7
Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome. 61
32771470 2021
8
Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome. 61
33707187 2021
9
Surgical Management of Odontogenic Infection in Sturge-Weber Syndrome: Report of a Case. 61
33674501 2021
10
Diffuse choroidal hemangioma in Sturge-Weber syndrome treated with brachytherapy. 61
33172715 2021
11
Retinal Detachment in a 40-Year-Old Man With Sturge-Weber Syndrome. 61
33662098 2021
12
Prenatal ultrasound diagnosis of Klippel-Trenaunay-Weber syndrome associated with umbilical cord hemangioma. 61
33210306 2021
13
Major Limb Amputation in Parkes-Weber Syndrome With Refractory Ulceration: A Case Report and Literature Review. 61
33527869 2021
14
Parkes-Weber Syndrome and double orifice atrial septal defect as a combined rare cause of severe pulmonary hypertension. 61
33590431 2021
15
Parkes-Weber syndrome related to RASA1 mosaic mutation. 61
33118152 2021
16
Sturge-Weber syndrome presenting in late adulthood. 61
33568409 2021
17
Neuro-schistosomiasis with palm tree contrast enhancement pattern, a report of three cases, and review of literature. 61
33614113 2021
18
Paediatric glaucoma in Hong Kong: a multicentre retrospective analysis of epidemiology, presentation, clinical interventions, and outcomes. 61
33542158 2021
19
Pulmonary Manifestations of Skin Disorders in Children. 61
33228937 2021
20
[A case of adult-onset Sturge-Weber syndrome type III without intracranial calcification, presenting with transient homonymous hemianopia]. 61
33504746 2021
21
Sirolimus Treatment in Sturge-Weber Syndrome. 61
33316689 2021
22
OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY PARAMETERS IN PATIENTS WITH PHACOMATOSIS. 61
32355124 2021
23
Parkes-Weber Syndrome with Spinal Arteriovenous Fistula in Childhood. 61
33556946 2021
24
Retrospective analysis of paediatric glaucoma at a tertiary referral centre in Hong Kong. 61
33104957 2021
25
HYPERMETABOLISM ON PEDIATRIC POSITRON EMISSION TOMOGRAPHY SCANS OF BRAIN GLUCOSE METABOLISM: What does it signify? 61
33452041 2021
26
Biomimetic phantom with anatomical accuracy for evaluating brain volumetric measurements with magnetic resonance imaging. 61
33532513 2021
27
The Diagnostic Value of Congenital and Nevoid Cutaneous Lesions Associated with Autism Spectrum Disorders in Indian Children- A Case-Control Study. 61
33768027 2021
28
Sturge-Weber syndrome coexisting with polydactyly: a case report. 61
33407220 2021
29
Sirolimus as a Potential Treatment for Sturge-Weber Syndrome. 61
32941208 2021
30
Surgical Management of Facial Port-Wine Stain in Sturge Weber Syndrome. 61
33585124 2021
31
Facial hemihypertrophy in a girl with sturge-weber syndrome: Treatment with oral sirolimus. 61
33511637 2021
32
Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome. 61
33175124 2021
33
Lasers, Birthmarks, and Sturge-Weber Syndrome: A Pilot Survey. 61
32960979 2021
34
Oral Surgery in Patients With Sturge-Weber Syndrome. 61
32941214 2021
35
The anatomic distribution of isolated and syndrome-associated port-wine stain. 61
33170527 2021
36
Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome. 61
33482759 2021
37
Severe osteomalacia with multiple insufficiency fractures secondary to intravenous iron therapy in a patient with Rendu-Osler-Weber syndrome. 61
32923530 2020
38
Choroidal alterations of Sturge-Weber syndrome secondary glaucoma and non-glaucoma port-wine stain patients distinguished by enhanced depth imaging optical coherence tomography. 61
33287757 2020
39
Teaching NeuroImages: Neurovascular features of suspected antenatal-onset Sturge-Weber syndrome without skin involvement. 61
32887775 2020
40
Case of Sturge-Weber syndrome type III diagnosed during dementia examination. 61
32940365 2020
41
Surgical Treatment for SWS Glaucoma: Experience From a Tertiary Referral Pediatric Hospital. 61
32852376 2020
42
Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force. 61
33190227 2020
43
Clinical profile and outcome of early surgery in neonatal-onset glaucoma presenting over a 5-year period. 61
33268344 2020
44
Facial Port-Wine Stain Phenotypes Associated with Glaucoma Risk in Neonates. 61
32795435 2020
45
[Brain abscess and Osler-Weber-Rendu syndrome: Do not forget to look for pulmonary arteriovenous malformations]. 61
32723482 2020
46
Embolization Techniques for Arteriovenous Malformations in Parkes-Weber Syndrome. 61
32479884 2020
47
Tongue Reduction for Macroglossia. 61
33235175 2020
48
Truncal Varicosities and Bilateral Port-wine Stain with Spinal Deformities Associated with Klippel-Trenaunay-Weber Syndrome. 61
33487708 2020
49
A rare case of Klippel-Trenaunay syndrome in association with Sturge-Weber syndrome treated by HMME-PDT. 61
32654224 2020
50
Failure of Goniosurgery for Glaucoma Associated With Sturge-Weber Syndrome. 61
33211896 2020

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
Show member pathways
11.99 RASA1 GNA11 EPHB4
2 11 GNAQ GNA11
3
Show member pathways
10.91 RASA1 EPHB4
4 10.87 GNAQ GNA11
5 10.81 GNAQ GNA11 FN1
6 10.79 GNAQ GNA11
7 10.67 RASA1 FN1
8
Show member pathways
10.16 GNAQ GNA11

GO Terms for Weber Syndrome

Cellular components related to Weber Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.96 GNAQ GNA11
2 receptor complex GO:0043235 8.8 EPHB4 ENG ACVRL1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.7 ENG CYP1B1 ACVRL1
2 negative regulation of cell migration GO:0030336 9.69 ENG CYP1B1 ACVRL1
3 heart development GO:0007507 9.56 GNA11 FN1 ENG ACVRL1
4 negative regulation of endothelial cell proliferation GO:0001937 9.55 ENG ACVRL1
5 positive regulation of BMP signaling pathway GO:0030513 9.54 ENG ACVRL1
6 action potential GO:0001508 9.49 GNAQ GNA11
7 endocardial cushion morphogenesis GO:0003203 9.48 ENG ACVRL1
8 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.46 GNAQ GNA11
9 phototransduction, visible light GO:0007603 9.43 GNAQ GNA11
10 retina vasculature development in camera-type eye GO:0061298 9.4 CYP1B1 ACVRL1
11 dorsal aorta morphogenesis GO:0035912 9.37 ENG ACVRL1
12 entrainment of circadian clock GO:0009649 9.32 GNAQ GNA11
13 endocardial cushion to mesenchymal transition GO:0090500 9.16 ENG ACVRL1
14 blood vessel morphogenesis GO:0048514 9.13 RASA1 CYP1B1 ACVRL1
15 angiogenesis GO:0001525 9.02 FN1 EPHB4 ENG CYP1B1 ACVRL1

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 9.37 ENG ACVRL1
2 G-protein beta/gamma-subunit complex binding GO:0031683 9.32 GNAQ GNA11
3 guanyl nucleotide binding GO:0019001 9.26 GNAQ GNA11
4 activin binding GO:0048185 9.16 ENG ACVRL1
5 transforming growth factor beta-activated receptor activity GO:0005024 8.96 ENG ACVRL1
6 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11

Sources for Weber Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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