MCID: STR039
MIFTS: 59

Sturge-Weber Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Sturge-Weber Syndrome

MalaCards integrated aliases for Sturge-Weber Syndrome:

Name: Sturge-Weber Syndrome 57 53 25 54 59 75 37 29 6 44 40
Sws 57 53 25 59 75 3
Encephalotrigeminal Angiomatosis 53 54 59
Sturge-Weber-Dimitri Syndrome 25 59
Encephalofacial Angiomatosis 53 59
Sturge-Weber-Krabbe Syndrome 25 59
Meningofacial Angiomatosis-Cerebral Calcification Syndrome 25
Sws Type Ii - Facial Angioma Alone, No Cns Involvement 53
Sws Type I - Facial and Leptomeningeal Angiomas 53
Sws Type Iii - Isolated Leptomeningeal Angiomas 53
Angiomatosis Aculoorbital-Thalamic Syndrome 25
Encephalofacial Hemangiomatosis Syndrome 25
Sturge-Weber Syndrome, Somatic, Mosaic 57
Meningo-Oculo-Facial Angiomatosis 25
Meningeal Capillary Angiomatosis 53
Sturge-Weber-Krabbe Angiomatosis 59
Encephalofacial Hemangiomatosis 25
Leptomeningeal Angiomatosis 53
Phakomatosis, Sturge-Weber 25
Neuroretinoangiomatosis 25
Sturge Weber Syndrome 53
Fourth Phacomatosis 53

Characteristics:

Orphanet epidemiological data:

59
sturge-weber syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
isolated cases


HPO:

32
sturge-weber syndrome:
Inheritance sporadic


Classifications:



Summaries for Sturge-Weber Syndrome

NINDS : 54 Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face.  The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face.  Sturge-Weber syndrome is also accompanied by abnormal blood vessels on the brain surface and the loss of nerve cells and calcification of underlying tissue in the cerebral cortex of the brain on the same side of the brain as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity.  There may be intermittent or permanent muscle weakness on the same side.  Some children will have developmental delays and cognitive impairment; most will have glaucoma (increased pressure within the eye) at birth or developing later.  The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). There is an increased risk for migraine headaches.  Sturge-Weber syndrome rarely affects other body organs.

MalaCards based summary : Sturge-Weber Syndrome, also known as sws, is related to weber syndrome and familial capillaro-venous leptomeningeal angiomatosis. An important gene associated with Sturge-Weber Syndrome is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Signaling by moderate kinase activity BRAF mutants and Oncogenic MAPK signaling. The drugs Miconazole and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin, and related phenotypes are seizures and strabismus

OMIM : 57 Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004). (185300)

UniProtKB/Swiss-Prot : 75 Sturge-Weber syndrome: A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes.

NIH Rare Diseases : 53 Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.

CDC : 3 Since 1990, 2 billion people have gained access to improved drinking water sources and 1.8 billion people have gained access to improved sanitation. However, worldwide, 780 million people still do not have access to improved water sources and an estimated 2.5 billion people — half of the developing world — lack access to adequate sanitation 1.

Genetics Home Reference : 25 Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). Not all individuals with Sturge-Weber syndrome have all three features.

Wikipedia : 76 Sturge–Weber syndrome or Sturge–Weber–Krabbe disease, sometimes referred to as encephalotrigeminal... more...

Related Diseases for Sturge-Weber Syndrome

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 28.5 CYP1B1 FN1 GNAQ RASA1
2 familial capillaro-venous leptomeningeal angiomatosis 12.3
3 klippel-trenaunay-weber syndrome 11.7
4 stuve-wiedemann syndrome 11.6
5 blood group--swann system 11.6
6 heterochromia iridis 11.5
7 moyamoya disease 1 11.2
8 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.2
9 autism with port-wine stain 11.2
10 epilepsy occipital calcifications 11.2
11 hemimegalencephaly 11.2
12 encephalocraniocutaneous lipomatosis 11.2
13 epileptic encephalopathy, early infantile, 6 10.9
14 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 10.9
15 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.9
16 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 10.9
17 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 10.9
18 parasomnia, sleepwalking type 10.9
19 choroiditis 10.7
20 hemangioma 10.6
21 cerebritis 10.6
22 angiomatosis 10.6
23 epilepsy 10.6
24 phacomatosis pigmentovascularis 10.5
25 retinitis 10.5
26 periodontitis 10.4
27 retinal detachment 10.4
28 tuberous sclerosis 10.4
29 headache 10.3
30 glaucoma 3, primary congenital, a 10.2
31 gingivitis 10.2
32 tuberous sclerosis 1 10.2
33 hemiplegia 10.2
34 arteriovenous malformation 10.2
35 status epilepticus 10.2
36 hemiplegic migraine 10.2
37 pyogenic granuloma 10.2
38 myeloma, multiple 10.1
39 hypomelanosis of ito 10.1
40 aging 10.1
41 hypothyroidism 10.1
42 infantile epileptic encephalopathy 10.1
43 hypopituitarism 10.1
44 esotropia 10.1
45 early-onset glaucoma 10.1
46 cerebral atrophy 10.1
47 seizure disorder 10.1
48 liposarcoma 10.0
49 alzheimer disease 10.0
50 chondrosarcoma 10.0

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



Diseases related to Sturge-Weber Syndrome

Symptoms & Phenotypes for Sturge-Weber Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
glaucoma
buphthalmos
choroidal hemangiomata

Skin Nails Hair Skin:
hemangiomata in at least first branch (ophthalmic) of trigeminal nerve distribution, unilateral, occasionally bilateral

Neurologic Central Nervous System:
seizures
cerebral cortical atrophy
mental retardation
arachnoid hemangiomata
'double contour' convolutional calcification on ct scan

Head And Neck Face:
facial hemangiomata


Clinical features from OMIM:

185300

Human phenotypes related to Sturge-Weber Syndrome:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
3 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
4 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
5 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
6 stroke 59 32 frequent (33%) Frequent (79-30%) HP:0001297
7 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
8 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
9 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000212
10 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
11 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
12 hearing abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000364
13 conjunctival telangiectasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000524
14 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
15 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
16 blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0000618
17 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
18 heterochromia iridis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001100
19 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
20 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
21 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
22 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
23 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
24 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
25 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
26 venous thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004936
27 abnormality of the retinal vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0008046
28 visceral angiomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100761
29 hyperostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100774
30 capillary hemangiomas 59 Very frequent (99-80%)
31 behavioral abnormality 59 Frequent (79-30%)
32 abnormality of the cerebral vasculature 59 Frequent (79-30%)
33 abnormality of the eye 59 Occasional (29-5%)
34 abnormality of eye movement 59 Occasional (29-5%)
35 abnormality of vision 59 Occasional (29-5%)
36 abnormality of the choroid 59 Occasional (29-5%)
37 hemianopsia 59 Occasional (29-5%)
38 facial hemangioma 32 HP:0000329
39 buphthalmos 32 HP:0000557
40 choroidal hemangioma 32 HP:0007872
41 arachnoid hemangiomatosis 32 HP:0012222
42 abnormal choroid morphology 32 occasional (7.5%) HP:0000610
43 capillary hemangioma 32 hallmark (90%) HP:0005306
44 hemianopia 32 occasional (7.5%) HP:0012377

MGI Mouse Phenotypes related to Sturge-Weber Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 FN1 GNAQ RASA1
2 limbs/digits/tail MP:0005371 9.13 RASA1 FN1 GNAQ
3 muscle MP:0005369 8.8 FN1 GNAQ RASA1

Drugs & Therapeutics for Sturge-Weber Syndrome

Drugs for Sturge-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 5284616 6436030 46835353
5 Coagulants Phase 3
6 Hemostatics Phase 3
7 Anti-Bacterial Agents Phase 2, Phase 3
8 Antibiotics, Antitubercular Phase 2, Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Anti-Infective Agents Phase 2, Phase 3
11 Antifibrinolytic Agents Phase 3
12 Antifungal Agents 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 33624 5478
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 Neurotransmitter Agents Phase 1
23 Tetrahydrozoline 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 Antibodies
29 Immunoglobulins
30 Mitogens
31 Endothelial Growth Factors
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 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
11 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
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 Sturge-Weber Syndrome

Cochrane evidence based reviews: sturge-weber syndrome

Genetic Tests for Sturge-Weber Syndrome

Genetic tests related to Sturge-Weber Syndrome:

# Genetic test Affiliating Genes
1 Sturge-Weber Syndrome 29 GNAQ

Anatomical Context for Sturge-Weber Syndrome

MalaCards organs/tissues related to Sturge-Weber Syndrome:

41
Brain, Eye, Skin, Parietal Lobe, Cortex, Endothelial, Thalamus

Publications for Sturge-Weber Syndrome

Articles related to Sturge-Weber Syndrome:

(show top 50) (show all 627)
# 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
Early Trabeculotomy Ab Externo in the Treatment of Sturge-Weber Syndrome. ( 29221824 )
2018
4
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
5
Acute primary angle-closure in Sturge-Weber syndrome. ( 29541691 )
2018
6
A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1. ( 29536368 )
2018
7
Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. ( 29753575 )
2018
8
A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection? ( 29476210 )
2018
9
Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome. ( 29403070 )
2018
10
Angiodysplastic Sturge Weber syndrome. ( 29351940 )
2018
11
Brush sign in Sturge-Weber syndrome. ( 29460138 )
2018
12
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
13
Von Hippel-Lindau disease and Sturge-Weber syndrome. ( 29478617 )
2018
14
Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement. ( 29414553 )
2018
15
Deep cerebral vein expansion with metabolic and neurocognitive recovery in Sturge-Weber syndrome. ( 29687028 )
2018
16
Somatic <i>GNAQ</i> mutation in the <i>forme fruste</i> of Sturge-Weber syndrome. ( 29725622 )
2018
17
A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. ( 29803545 )
2018
18
Sturge-Weber syndrome-associated glaucoma and intraocular osseous metaplasia: a unique complicated case. ( 29769188 )
2018
19
Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study. ( 29674168 )
2018
20
Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. ( 28711177 )
2017
21
Optical Coherence Tomography Visualization of a Port-Wine Stain in a Patient With Sturge-Weber Syndrome. ( 28541265 )
2017
22
Abnormal neurovascular coupling during status epilepticus migrainosus in Sturge-Weber syndrome. ( 27903813 )
2017
23
A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma. ( 28724825 )
2017
24
Reliability and Clinical Correlation of Transcranial Doppler Ultrasound in Sturge-Weber Syndrome. ( 28757309 )
2017
25
Sturge-Weber Syndrome ( 29083797 )
2017
26
Sturge-Weber Syndrome with Choroidal Hemangioma. ( 28584769 )
2017
27
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. ( 28064423 )
2017
28
Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome. ( 28941044 )
2017
29
Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita. ( 29136059 )
2017
30
Cannabidiol Treatment for Refractory Seizures in Sturge-Weber Syndrome. ( 28454984 )
2017
31
Imaging of Glutamate Concentration in Sturge-Weber Syndrome. ( 28070151 )
2017
32
Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome. ( 28459499 )
2017
33
Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect. ( 28782176 )
2017
34
Bilateral intracranial calcifications with bilateral facial cutaneous naevus: Sturge Weber syndrome. ( 28978576 )
2017
35
Metabolic correlates of cognitive function in children with unilateral Sturge-Weber syndrome: Evidence for regional functional reorganization and crowding. ( 29274110 )
2017
36
GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome. ( 28571101 )
2017
37
Long-term intraocular pressure after combined trabeculotomy-trabeculectomy in glaucoma associated with Sturge-Weber syndrome. ( 28885669 )
2017
38
Epilepsy Mechanisms in Neurocutaneous Disorders: Tuberous Sclerosis Complex, Neurofibromatosis Type 1, and Sturge-Weber Syndrome. ( 28367137 )
2017
39
Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. ( 28079102 )
2017
40
Sturge-Weber Syndrome. ( 28854093 )
2017
41
Enlargement of deep medullary veins during the early clinical course of Sturge-Weber syndrome. ( 27864521 )
2017
42
Sturge-Weber Syndrome Associated with Monolateral Ocular Melanocytosis, Iris Mammillations, and Diffuse Choroidal Haemangioma. ( 28868033 )
2017
43
Sturge Weber Syndrome: A Case Study. ( 28658923 )
2017
44
Synthetic MRI showed increased myelin partial volume in the white matter of a patient with Sturge-Weber syndrome. ( 28844080 )
2017
45
Early Trabeculotomy Ab Externo in Treatment of Sturge-Weber Syndrome. ( 28807733 )
2017
46
Cryotherapy as a conservative treatment modality for gingival enlargement in a patient with Sturge-Weber Syndrome. ( 28580218 )
2017
47
Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome. ( 28779688 )
2017
48
[Formula: see text]Intellectual and adaptive functioning in Sturge-Weber Syndrome. ( 25952468 )
2016
49
A Cerebral Infarction in a Girl With Sturge-Weber Syndrome. ( 27663490 )
2016
50
Correction of Facial Deformity in Sturge-Weber Syndrome. ( 27622111 )
2016

Variations for Sturge-Weber Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Sturge-Weber Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 GNAQ p.Arg183Gln VAR_067270 rs397514698

ClinVar genetic disease variations for Sturge-Weber Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNAQ NM_002072.4(GNAQ): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic rs397514698 GRCh37 Chromosome 9, 80412493: 80412493
2 GNAQ NM_002072.4(GNAQ): c.548G> A (p.Arg183Gln) single nucleotide variant Pathogenic rs397514698 GRCh38 Chromosome 9, 77797577: 77797577

Expression for Sturge-Weber Syndrome

Search GEO for disease gene expression data for Sturge-Weber Syndrome.

Pathways for Sturge-Weber Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 FN1 RASA1
2
Show member pathways
11.29 FN1 RASA1
3 10.94 FN1 GNAQ
4 10.14 FN1 RASA1

GO Terms for Sturge-Weber Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.16 CYP1B1 FN1
2 regulation of cell shape GO:0008360 8.96 FN1 RASA1
3 blood vessel morphogenesis GO:0048514 8.62 CYP1B1 RASA1

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 8.62 GNAQ RASA1

Sources for Sturge-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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