SWS
MCID: STR039
MIFTS: 58

Sturge-Weber Syndrome (SWS)

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

Aliases & Classifications for Sturge-Weber Syndrome

MalaCards integrated aliases for Sturge-Weber Syndrome:

Name: Sturge-Weber Syndrome 58 77 54 26 55 60 76 38 30 6 45 41
Sws 58 54 26 60 76
Encephalotrigeminal Angiomatosis 54 55 60
Sturge-Weber-Dimitri Syndrome 26 60
Encephalofacial Angiomatosis 54 60
Sturge-Weber-Krabbe Syndrome 26 60
Meningofacial Angiomatosis-Cerebral Calcification Syndrome 26
Sws Type Ii - Facial Angioma Alone, No Cns Involvement 54
Sws Type I - Facial and Leptomeningeal Angiomas 54
Sws Type Iii - Isolated Leptomeningeal Angiomas 54
Angiomatosis Aculoorbital-Thalamic Syndrome 26
Encephalofacial Hemangiomatosis Syndrome 26
Sturge-Weber Syndrome, Somatic, Mosaic 58
Meningo-Oculo-Facial Angiomatosis 26
Meningeal Capillary Angiomatosis 54
Sturge-Weber-Krabbe Angiomatosis 60
Encephalofacial Hemangiomatosis 26
Leptomeningeal Angiomatosis 54
Phakomatosis, Sturge-Weber 26
Neuroretinoangiomatosis 26
Sturge Weber Syndrome 54
Fourth Phacomatosis 54

Characteristics:

Orphanet epidemiological data:

60
sturge-weber syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
somatic mosaic


HPO:

33
sturge-weber syndrome:
Inheritance sporadic


Classifications:



Summaries for Sturge-Weber Syndrome

NIH Rare Diseases : 54 Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain. Port-wine birthmarks are caused by enlarged blood vessels right underneath the skin. People with Sturge-Weber syndrome also have clusters of abnormal blood vessels between the layers of tissue that cover the brain and spine known as leptomeningeal angiomas. They may also have  increased pressure in the eyes known as glaucoma. Other symptoms of SWS may include seizures, muscle weakness, developmental and intellectual disability. SWS 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. SWS is diagnosed based on the symptoms. Imaging studies, such as an MRI or CT-scan, are also used to aid in the diagnosis. There is no one treatment for SWS, so management involves treating the specific symptoms that are present. This may include anti-seizure medications, medications and/or surgery for glaucoma, and low-dose aspirin to reduce the pressure in the eyes and brain. The port-wine birthmark may be treated with various types of laser treatments. The long-term outlook for people with SWS is dependent on the severity of symptoms and varies from person to person.

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 Paradoxical activation of RAF signaling by kinase inactive BRAF and Oncogenic MAPK signaling. The drugs Tranexamic Acid and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and skin, and related phenotypes are seizures and capillary hemangioma

Genetics Home Reference : 26 Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. 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). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.

OMIM : 58 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)

NINDS : 55 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Sturge–Weber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital... 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 158)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 30.6 CYP1B1 FN1 GNAQ RASA1
2 familial capillaro-venous leptomeningeal angiomatosis 12.5
3 blood group--swann system 12.2
4 klippel-trenaunay-weber syndrome 11.9
5 stuve-wiedemann syndrome 11.9
6 heterochromia iridis 11.7
7 moyamoya disease 1 11.7
8 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.4
9 autism with port-wine stain 11.4
10 epilepsy occipital calcifications 11.4
11 hemimegalencephaly 11.4
12 encephalocraniocutaneous lipomatosis 11.3
13 epileptic encephalopathy, early infantile, 6 11.1
14 adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 11.1
15 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 11.1
16 adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency 11.1
17 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.1
18 parasomnia, sleepwalking type 11.1
19 hemangioma 10.8
20 epilepsy 10.8
21 phacomatosis pigmentovascularis 10.7
22 retinal detachment 10.6
23 tuberous sclerosis 10.5
24 angioosteohypertrophic syndrome 10.5
25 headache 10.5
26 von hippel-lindau syndrome 10.4
27 glaucoma 3, primary congenital, a 10.4
28 status epilepticus 10.4
29 seizure disorder 10.4
30 tuberous sclerosis 1 10.3
31 hemiplegia 10.3
32 arteriovenous malformation 10.3
33 gingival overgrowth 10.3
34 hemiplegic migraine 10.3
35 alzheimer disease 10.3
36 neurofibromatosis, type i 10.3
37 neurofibromatosis, type iv, of riccardi 10.3
38 myeloma, multiple 10.3
39 hypomelanosis of ito 10.3
40 hemorrhage, intracerebral 10.3
41 west syndrome 10.3
42 retinal vein occlusion 10.3
43 monocular esotropia 10.3
44 hypothyroidism 10.3
45 hypopituitarism 10.3
46 esotropia 10.3
47 pyogenic granuloma 10.3
48 early-onset glaucoma 10.3
49 cerebral atrophy 10.3
50 melanosis, neurocutaneous 10.2

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



Diseases related to Sturge-Weber Syndrome

Symptoms & Phenotypes for Sturge-Weber Syndrome

Human phenotypes related to Sturge-Weber Syndrome:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 capillary hemangioma 33 hallmark (90%) HP:0005306
3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
4 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
5 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
6 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
7 attention deficit hyperactivity disorder 60 33 frequent (33%) Frequent (79-30%) HP:0007018
8 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
9 stroke 60 33 frequent (33%) Frequent (79-30%) HP:0001297
10 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
11 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
12 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
13 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
14 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
15 gingival overgrowth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000212
16 blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0000618
17 pulmonary embolism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002204
18 corneal dystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001131
19 hearing abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000364
20 venous thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004936
21 cerebral cortical atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002120
22 heterochromia iridis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001100
23 conjunctival telangiectasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000524
24 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308
25 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
26 visceral angiomatosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100761
27 hyperostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100774
28 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
29 autistic behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000729
30 abnormal choroid morphology 33 occasional (7.5%) HP:0000610
31 hemianopia 33 occasional (7.5%) HP:0012377
32 abnormal retinal vascular morphology 33 occasional (7.5%) HP:0008046
33 abnormality of eye movement 60 Occasional (29-5%)
34 behavioral abnormality 60 Frequent (79-30%)
35 abnormality of the eye 60 Occasional (29-5%)
36 abnormality of vision 60 Occasional (29-5%)
37 hemianopsia 60 Occasional (29-5%)
38 abnormality of the retinal vasculature 60 Occasional (29-5%)
39 capillary hemangiomas 60 Very frequent (99-80%)
40 abnormality of the cerebral vasculature 60 Frequent (79-30%)
41 buphthalmos 33 HP:0000557
42 abnormality of the choroid 60 Occasional (29-5%)
43 facial hemangioma 33 HP:0000329
44 arachnoid hemangiomatosis 33 HP:0012222
45 choroidal hemangioma 33 HP:0007872

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Sturge-Weber Syndrome:

47
# 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 FN1 GNAQ RASA1
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 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 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 30 GNAQ

Anatomical Context for Sturge-Weber Syndrome

MalaCards organs/tissues related to Sturge-Weber Syndrome:

42
Brain, Eye, Skin, Parietal Lobe, Cortex, Kidney, Endothelial

Publications for Sturge-Weber Syndrome

Articles related to Sturge-Weber Syndrome:

(show top 50) (show all 752)
# 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
Choroidal Hemangioma in a Black Patient With Sturge-Weber Syndrome: Challenges in Diagnosis. ( 30893453 )
2019
4
Idiopathic inflammatory myopathy comorbid with Sturge-Weber syndrome: a case report. ( 31053110 )
2019
5
Gαq and hyper-phosphorylated ERK expression in Sturge-Weber syndrome leptomeningeal blood vessel endothelial cells. ( 30112971 )
2019
6
Ahmed valve implantation in childhood glaucoma associated with Sturge-Weber syndrome: our experience. ( 30337636 )
2019
7
Sturge-Weber syndrome. ( 30357409 )
2019
8
Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms. ( 30378435 )
2019
9
Hypothesis: Presymptomatic treatment of Sturge-Weber Syndrome With Aspirin and Antiepileptic Drugs May Delay Seizure Onset. ( 30482419 )
2019
10
Sturge-Weber Syndrome Coexisting With Moyamoya Disease in the Fifth Decade: A Case Report and Literature Review. ( 30586028 )
2019
11
Asymmetric cavernous sinus enlargement: a novel finding in Sturge-Weber syndrome. ( 30747269 )
2019
12
Oral healthcare management of a child with phakomatosis pigmentovascularis associated with bilateral Sturge-Weber syndrome. ( 30865332 )
2019
13
Role of the cerebral ultrasound in a case of Sturge-Weber syndrome. ( 30962208 )
2019
14
Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome. ( 31050360 )
2019
15
The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. ( 31067686 )
2019
16
A 20 Years Young Lady with Recurrent Convulsion since Childhood (Sturge-Weber Syndrome). ( 31086166 )
2019
17
A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection? ( 29476210 )
2018
18
Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. ( 30195931 )
2018
19
H-ABC Presenting as Asymmetric Dystonia in a Patient with Sturge-Weber Syndrome. ( 29076120 )
2018
20
Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study. ( 29674168 )
2018
21
Partial thickness sclerectomy to treat exudative retinal detachment secondary a submacular choroidal hemangioma in a Sturge-Weber syndrome. ( 30564966 )
2018
22
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome. ( 28064423 )
2018
23
Long-term intraocular pressure after combined trabeculotomy-trabeculectomy in glaucoma associated with Sturge-Weber syndrome. ( 28885669 )
2018
24
Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome. ( 28941044 )
2018
25
Screening for Sturge-Weber syndrome: A state-of-the-art review. ( 29034507 )
2018
26
Early Trabeculotomy Ab Externo in the Treatment of Sturge-Weber Syndrome. ( 29221824 )
2018
27
Metabolic correlates of cognitive function in children with unilateral Sturge-Weber syndrome: Evidence for regional functional reorganization and crowding. ( 29274110 )
2018
28
Angiodysplastic Sturge Weber syndrome. ( 29351940 )
2018
29
Combined cilioretinal artery and hemi-retinal vein occlusion in Sturge Weber syndrome: Expanding the clinical spectrum. ( 30224889 )
2018
30
Results of external beam radiotherapy for diffuse choroidal hemangiomas in Sturge-Weber syndrome. ( 29403070 )
2018
31
Cognitive and motor outcomes in children with unilateral Sturge-Weber syndrome: Effect of age at seizure onset and side of brain involvement. ( 29414553 )
2018
32
Brush sign in Sturge-Weber syndrome. ( 29460138 )
2018
33
Von Hippel-Lindau disease and Sturge-Weber syndrome. ( 29478617 )
2018
34
Trabeculectomy with Ologen implant versus mitomycin C in congenital glaucoma secondary to Sturge Weber Syndrome. ( 29487815 )
2018
35
A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1. ( 29536368 )
2018
36
Acute primary angle-closure in Sturge-Weber syndrome. ( 29541691 )
2018
37
Deep cerebral vein expansion with metabolic and neurocognitive recovery in Sturge-Weber syndrome. ( 29687028 )
2018
38
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome. ( 29725622 )
2018
39
Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. ( 29753575 )
2018
40
Sturge-Weber syndrome-associated glaucoma and intraocular osseous metaplasia: a unique complicated case. ( 29769188 )
2018
41
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
42
A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. ( 29803545 )
2018
43
Retrospective review of screening for Sturge-Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high-risk port-wine stains. ( 30020536 )
2018
44
The Bone Does Not Predict the Brain in Sturge-Weber Syndrome. ( 30026385 )
2018
45
Anesthesia Management of Vitrectomy in a Patient with Sturge-Weber Syndrome. ( 30116281 )
2018
46
Detailed Clinical and Electrophysiological Illustration of a Patient with Sturge-Weber Syndrome Presenting with Prolonged Transient Neurological Symptoms. ( 30271058 )
2018
47
An unusual case of acoria in Sturge-Weber syndrome. ( 30295080 )
2018
48
Proseal laryngeal mask airway with stylet in drain tube technique in a child with Sturge-Weber syndrome. ( 30787511 )
2018
49
Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. ( 30853154 )
2018
50
The influence of REM sleep and SWS on emotional memory consolidation in participants reporting depressive symptoms. ( 29306708 )
2018

Variations for Sturge-Weber Syndrome

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

76
# 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 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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