MCID: WBR001
MIFTS: 41

Weber Syndrome malady

Categories: Rare diseases

Aliases & Classifications for Weber Syndrome

Aliases & Descriptions for Weber Syndrome:

Name: Weber Syndrome 50 69
Midbrain Stroke Syndromes 50

Classifications:



Summaries for Weber Syndrome

MalaCards based summary : Weber Syndrome, also known as midbrain stroke syndromes, is related to hypomelanosis of ito and parkes weber syndrome. An important gene associated with Weber Syndrome is ENG (Endoglin), and among its related pathways/superpathways are Oncogenic MAPK signaling and VEGFR3 signaling in lymphatic endothelium. The drugs protease inhibitors and HIV Protease Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and spinal cord, and related phenotypes are cardiovascular system and growth/size/body region

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 174)
id Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 29.3 FLT4 GLMN
2 parkes weber syndrome 12.3
3 sturge-weber syndrome, somatic, mosaic 12.3
4 klippel-trenaunay-weber syndrome 12.3
5 parkes weber syndrome, rasa1-related 11.7
6 hemimegalencephaly 11.1
7 heterochromia iridis 11.1
8 telangiectasia, hereditary hemorrhagic, type 1 10.9
9 moyamoya disease 10.8
10 hemihyperplasia, isolated 10.8
11 clove syndrome, somatic 10.8
12 capillary malformation-arteriovenous malformation 10.8
13 telangiectasia, hereditary hemorrhagic, type 2 10.7
14 angioosteohypertrophic syndrome 10.7
15 acvrl1-related hereditary hemorrhagic telangiectasia 10.7
16 mental retardation syndrome, mietens-weber type 10.7
17 eng-related hereditary hemorrhagic telangiectasia 10.7
18 telangiectasia, hereditary hemorrhagic, type 3 10.7
19 pulmonary surfactant protein b, deficiency of 10.3 ACVRL1 ENG
20 choroiditis 10.3
21 hemangioma 10.2
22 cerebritis 10.2
23 pulmonary venoocclusive disease 1 10.2 ACVRL1 ENG
24 tooth erosion 10.2 ACVRL1 ENG SST
25 pituitary infarct 10.2 ACVRL1 ENG RASA1
26 x-linked leigh syndrome 10.2 ACVRL1 ENG
27 angiomatosis 10.2
28 pelvic organ prolapse 2 10.1 GNAQ LIFR
29 respiratory syncytial virus infectious disease 10.1 ACVRL1 ENG SOX18
30 epilepsy 10.1
31 melanoma, cutaneous malignant, 6 10.1 AGGF1 GLMN RASA1
32 retinitis 10.0
33 chondrodysplasia punctata 1, x-linked 10.0 CCM2 KRIT1 PDCD10
34 retinitis pigmentosa 68 10.0 CCM2 KRIT1 PDCD10
35 pineal parenchymal tumor of intermediate differentiation 10.0 CCM2 KRIT1 PDCD10
36 chronic pain 10.0 CCM2 KRIT1 PDCD10
37 arteriovenous malformation 10.0
38 cerebellar astrocytoma 10.0 CCM2 KRIT1 PDCD10
39 charcot-marie-tooth disease, axonal, type 2f 10.0 CCM2 KRIT1 PDCD10
40 coronary artery dissection, spontaneous 10.0 FOXC2 SOX18 SST
41 pallister-hall syndrome 10.0 CCM2 KRIT1 PDCD10
42 myasthenic syndrome, congenital, 15, without tubular aggregates 10.0 GLMN KRIT1
43 periodontitis 10.0
44 retinal detachment 9.9
45 arteriovenous fistula 9.9
46 hereditary hemorrhagic telangiectasia 9.9
47 pilomyxoid astrocytoma 9.9 FLT4 GLMN
48 tuberous sclerosis 9.9
49 aneurysm 9.9
50 central cervical cord syndrome 9.9 FLT4 GLMN GNAQ

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:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.32 FN1 ENG ACVRL1 FLT4 AGGF1 CCM2
2 growth/size/body region MP:0005378 10.28 FN1 ENG ACVRL1 FLT4 CCM2 GNAQ
3 embryo MP:0005380 10.23 FN1 ENG ACVRL1 FLT4 AGGF1 CCM2
4 homeostasis/metabolism MP:0005376 10.18 CCM2 CYP1B1 FN1 ENG ACVRL1 FLT4
5 mortality/aging MP:0010768 10.13 FN1 ENG ACVRL1 FLT4 AGGF1 CCM2
6 craniofacial MP:0005382 10.1 CCM2 FN1 ENG ACVRL1 GNAQ KRIT1
7 immune system MP:0005387 10.07 CCM2 FLT4 PDCD10 GNAQ FN1 FOXC2
8 digestive/alimentary MP:0005381 10.02 ENG ACVRL1 FLT4 FOXC2 RASA1 SOX18
9 integument MP:0010771 9.92 CCM2 ENG FLT4 PDCD10 GNAQ FN1
10 muscle MP:0005369 9.85 FN1 ENG ACVRL1 FLT4 CCM2 GNAQ
11 nervous system MP:0003631 9.77 CCM2 FN1 ENG ACVRL1 AGGF1 PDCD10
12 normal MP:0002873 9.32 CCM2 FN1 ENG ACVRL1 FLT4 PDCD10

Drugs & Therapeutics for Weber Syndrome

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

(show all 44)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
protease inhibitors Phase 4
2 HIV Protease Inhibitors Phase 4
3 Anti-HIV Agents Phase 4
4 Anti-Infective Agents Phase 4,Phase 2,Phase 3
5 Anti-Retroviral Agents Phase 4
6 Atazanavir Sulfate Phase 4
7 Antiviral Agents Phase 4
8
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
9
Tranexamic Acid Approved Phase 3 1197-18-8 5526
10
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
11
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
12
Serotonin Phase 3 50-67-9 5202
13 Serotonin Agents Phase 3
14 Serotonin Antagonists Phase 3
15 Gastrointestinal Agents Phase 3
16 Coagulants Phase 3
17 Neurotransmitter Agents Phase 3,Phase 1
18 Hemostatics Phase 3
19 Anti-Bacterial Agents Phase 2, Phase 3
20 Immunosuppressive Agents Phase 2, Phase 3
21 Antifibrinolytic Agents Phase 3
22 Antifungal Agents Phase 2, Phase 3
23 Antibiotics, Antitubercular Phase 2, Phase 3
24 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
25 Angiogenesis Inhibitors Phase 2
26 Angiogenesis Modulating Agents Phase 2
27 Anticonvulsants Phase 1, Phase 2
28
Azacitidine Approved, Investigational Phase 1 320-67-2 9444
29
Decitabine Approved, Investigational Phase 1 2353-33-5 451668
30
Timolol Approved Phase 1 26839-75-8 33624 5478
31
Maleic acid Experimental Phase 1 110-16-7 444266
32 Antimetabolites Phase 1
33 Antimetabolites, Antineoplastic Phase 1
34 Adrenergic Agents Phase 1
35 Adrenergic Antagonists Phase 1
36 Adrenergic beta-Antagonists Phase 1
37 Tetrahydrozoline Phase 1
38 Ophthalmic Solutions Phase 1
39 Anti-Arrhythmia Agents Phase 1
40 Antihypertensive Agents Phase 1
41 Lubricant Eye Drops Phase 1
42 Immunoglobulins
43 Antibodies
44 GTPase-Activating Proteins

Interventional clinical trials:

(show all 41)
id Name Status NCT ID Phase
1 A Prospective Randomized Study Comparing Radiofrequency Energy With Cryoenergy Unknown status NCT00773539 Phase 4
2 Effect of Atazanavir on Endothelial Function in HIV-Infected Patients Completed NCT00447070 Phase 4
3 Treatment of Predominant Central Sleep Apnoea by Adaptive Servo Ventilation in Patients With Heart Failure Completed NCT00733343 Phase 4
4 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3
5 Study In Women With Severe Diarrhea-Predominant Irritable Bowel Syndrome Having Failed Conventional Therapy Completed NCT00067457 Phase 3
6 Randomized Controlled Trial of Stress Management Training in HIV Completed NCT00436085 Phase 3
7 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3
8 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2
9 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT03016715 Phase 2
10 Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study Recruiting NCT02960997 Phase 2
11 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2
12 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT01485224 Phase 2
13 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2
14 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
15 Decitabine in Treating Patients With Melanoma or Other Advanced Cancer Completed NCT00002980 Phase 1
16 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Recruiting NCT01533376 Phase 1
17 Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian Syndromes Unknown status NCT00368199 Early Phase 1
18 Investigation of Plasma Proteins in Patients With Hereditary Haemorrhagic Telangiectasia and PAVMs Unknown status NCT00230672
19 Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia Unknown status NCT00733629
20 Studies of White Blood Cells Derived From HHT Patients Unknown status NCT00230633
21 Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery Unknown status NCT01778959
22 Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study Unknown status NCT02155478
23 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
24 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
25 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
26 Pulsatile and Steady State Hemodynamics in Diastolic Heart Failure Completed NCT00720525
27 Extrapulmonary Interventional Ventilatory Support in Severe Acute Respiratory Distress Syndrome (ARDS) Completed NCT00538928
28 Nerve Changes in Patients Who Are Undergoing Chemotherapy or Biological Therapy for Cancer Completed NCT00281853
29 Studies of Hereditary Hemorrhagic Telangiectasia Completed NCT00004648
30 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
31 Immunmodulation in Patients With HHT Recruiting NCT02983253
32 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Recruiting NCT02690246
33 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Recruiting NCT01761981
34 Lymphatic Anomalies Registry Recruiting NCT02399527
35 Pupillometry in Horner's Syndrome Recruiting NCT02978079
36 Measuring Energy Expenditure in ECMO (Extracorporeal Membrane Oxygenation) Patients Recruiting NCT01992237
37 Genetic Determinants of Congenital Heart Disease Outcomes Recruiting NCT01656941
38 Improving Adherence Among HIV+ Rwandan Youth: A TI-CBTe Indigenous Leader Model Recruiting NCT02464423
39 Surviving ARDS: The Influence of Quality of Care and Individual Patient Characteristics on Quality of Life Recruiting NCT02637011
40 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857
41 Study of Histological Samples From Patients With Hereditary Haemorrhagic Telangiectasia Active, not recruiting NCT00733655

Search NIH Clinical Center for Weber Syndrome

Genetic Tests for Weber Syndrome

Anatomical Context for Weber Syndrome

MalaCards organs/tissues related to Weber Syndrome:

39
Brain, Skin, Spinal Cord, Thalamus, Thyroid, Testis, Occipital Lobe

Publications for Weber Syndrome

Articles related to Weber Syndrome:

(show top 50) (show all 775)
id Title Authors Year
1
Growing skull hemangioma: first and unique description in a patient with Klippel-TrAcnaunay-Weber syndrome. ( 27822901 )
2017
2
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. ( 28064423 )
2017
3
Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. ( 28079102 )
2017
4
Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. ( 27903813 )
2017
5
Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome. ( 27864521 )
2017
6
Imaging of Glutamate Concentration in Sturge-Weber Syndrome. ( 28070151 )
2017
7
Fosphenytoin-induced dyskinesias in an infant with Sturge-Weber syndrome. ( 27164450 )
2016
8
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. ( 27511883 )
2016
9
Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. ( 27257371 )
2016
10
Alarming Skin Tatoo with Periodontal Link: Sturge Weber Syndrome. ( 27437380 )
2016
11
Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort. ( 27238857 )
2016
12
The Advantage of Synthetic MRI for the Visualization of Early White Matter Change in an Infant with Sturge-Weber Syndrome. ( 27001386 )
2016
13
Analysis of Sturge-Weber syndrome: A retrospective study of multiple associated variables. ( 26964511 )
2016
14
Sturge Weber Syndrome: An Unusual Case with Multisystem Manifestations. ( 27222632 )
2016
15
Hemiplegia Following Mild Head Injury in a Child with Sturge-Weber Syndrome - A Diagnostic Dilemma. ( 27539768 )
2016
16
Spectral Domain Optical Coherence Tomography of Choroidal and Outer Retinal Layer Thickness in the Sturge Weber Syndrome. ( 27159379 )
2016
17
Verteporfin photodynamic therapy for the treatment of choroidal haemangioma associated with Sturge-Weber syndrome. ( 27375184 )
2016
18
Chronic foot ulcer caused by Parkes Weber syndrome. ( 27197605 )
2016
19
A rare case of worsening of Parkes-Weber syndrome with development of POEMS syndrome. ( 27649853 )
2016
20
Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. ( 27274162 )
2016
21
Pulmonary hypertension associated with Parkes-Weber syndrome (a rare congenital arteriovenous malformation). ( 27707981 )
2016
22
Imaging increased glutamate in children with Sturge-Weber syndrome: Association with epilepsy severity. ( 26970949 )
2016
23
Predicting and Preventing Epilepsy in Sturge-Weber Syndrome? ( 27909387 )
2016
24
Combined surgical and endovascular treatment of complex high-flow conus medullaris arteriovenous fistula associated with Parkes Weber syndrome: case report. ( 27015132 )
2016
25
Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells inA Sturge-Weber Syndrome. ( 27919468 )
2016
26
Sturge-Weber syndrome with intracerebral hemorrhage: a case report. ( 27795889 )
2016
27
Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. ( 27019697 )
2016
28
Predictive Factors for Epilepsy in Pediatric Patients With Sturge-Weber Syndrome. ( 27637568 )
2016
29
Analysis of Epileptic Discharges from Implanted Subdural Electrodes in Patients with Sturge-Weber Syndrome. ( 27054715 )
2016
30
Nodular Proliferation in Parkes Weber Syndrome. ( 27575310 )
2016
31
Anticonvulsant Efficacy in Sturge-Weber Syndrome. ( 26997037 )
2016
32
A case of recurrent massive pulmonary embolism in Klippel-Trenaunay-Weber syndrome treated with thrombolytics. ( 27141435 )
2016
33
Pancytopenia in a Patient with Rendu-Osler-Weber Syndrome and Uncommon Vascular Abnormalities. ( 27803822 )
2016
34
Sturge-Weber syndrome type 3 manifesting as 'Status migrainosus'. ( 27993821 )
2016
35
Vertical parasagittal hemispherotomy for Sturge-Weber syndrome in early infancy: case report and literature review. ( 27652010 )
2016
36
Predictors of Cognitive Functions in Children With Sturge-Weber Syndrome: A Longitudinal Study. ( 27353695 )
2016
37
A Cerebral Infarction in a Girl With Sturge-Weber Syndrome. ( 27663490 )
2016
38
Reconstruction of the Large Face and Scalp Defects of a Patient with Sturge-Weber Syndrome. ( 27248033 )
2016
39
Combination of Sturge-Weber Syndrome and Trigonocephaly. ( 27557468 )
2016
40
A rare type of congenital Sturge-Weber Syndrome: presenting with history of perinatal asphyxia. ( 27525070 )
2016
41
Correction of Facial Deformity in Sturge-Weber Syndrome. ( 27622111 )
2016
42
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. ( 26957145 )
2016
43
Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations. ( 26437284 )
2015
44
Teaching NeuroImages: Dyke-Davidoff-Masson in Sturge-Weber syndrome. ( 26481933 )
2015
45
Angiomatous meningioma in Sturge-Weber syndrome. ( 25766367 )
2015
46
Sturge-Weber syndrome: oral and extra-oral manifestations. ( 25766438 )
2015
47
Rat Model of Parkes Weber Syndrome. ( 26217941 )
2015
48
Phakomatosis pigmentovascularis Type IIb, Sturge- Weber syndrome and cone shaped tongue: An unusual association. ( 26515844 )
2015
49
A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. ( 25592619 )
2015
50
Surgery can get favorable outcome in atypical sturge-weber syndrome with intractable epilepsy. ( 25723661 )
2015

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 AGGF1 FN1 RASA1
2 9.98 FLT4 FN1

GO Terms for Weber Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 ENG FLT4 LIFR

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.8 CCM2 ENG FOXC2 GNAQ SOX18
2 negative regulation of cell migration GO:0030336 9.73 ACVRL1 CYP1B1 ENG
3 positive regulation of angiogenesis GO:0045766 9.73 ACVRL1 AGGF1 CYP1B1 ENG
4 positive regulation of endothelial cell proliferation GO:0001938 9.72 ACVRL1 AGGF1 FLT4
5 positive regulation of vascular endothelial growth factor production GO:0010575 9.61 CYP1B1 FLT4
6 sprouting angiogenesis GO:0002040 9.6 ENG FLT4
7 artery morphogenesis GO:0048844 9.59 ENG FOXC2
8 embryonic heart tube development GO:0035050 9.58 FOXC2 SOX18
9 negative regulation of endothelial cell migration GO:0010596 9.58 ACVRL1 KRIT1
10 endocardial cushion morphogenesis GO:0003203 9.57 ACVRL1 ENG
11 blood vessel morphogenesis GO:0048514 9.56 ACVRL1 CYP1B1 FLT4 RASA1
12 retina vasculature development in camera-type eye GO:0061298 9.54 ACVRL1 CYP1B1
13 vasculature development GO:0001944 9.54 CCM2 FLT4 SOX18
14 dorsal aorta morphogenesis GO:0035912 9.52 ACVRL1 ENG
15 venous blood vessel morphogenesis GO:0048845 9.51 CCM2 ENG
16 lymph vessel development GO:0001945 9.5 FLT4 FOXC2 SOX18
17 lymphatic endothelial cell differentiation GO:0060836 9.49 ACVRL1 SOX18
18 endothelial tube morphogenesis GO:0061154 9.48 ACVRL1 CCM2
19 endocardial cushion to mesenchymal transition GO:0090500 9.46 ACVRL1 ENG
20 lymphangiogenesis GO:0001946 9.46 ACVRL1 FLT4 FOXC2 SOX18
21 vasculogenesis GO:0001570 9.43 AGGF1 CCM2 ENG GLMN RASA1 SOX18
22 angiogenesis GO:0001525 9.28 ACVRL1 AGGF1 CYP1B1 ENG FLT4 FN1

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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