SWS
MCID: STR039
MIFTS: 60

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 57 12 73 20 43 53 58 72 36 29 6 44 15 39
Sws 57 12 20 43 58 72
Encephalotrigeminal Angiomatosis 12 73 20 53 58
Sturge-Weber-Dimitri Syndrome 12 43 58
Encephalofacial Angiomatosis 12 20 58
Sturge-Weber-Krabbe Syndrome 12 43 58
Meningeal Capillary Angiomatosis 12 20
Sturge-Weber-Krabbe Angiomatosis 12 58
Leptomeningeal Angiomatosis 12 20
Fourth Phacomatosis 12 20
Meningofacial Angiomatosis-Cerebral Calcification Syndrome 43
Sws Type Ii - Facial Angioma Alone, No Cns Involvement 20
Sws Type I - Facial and Leptomeningeal Angiomas 20
Sws Type Iii - Isolated Leptomeningeal Angiomas 20
Angiomatosis Aculoorbital-Thalamic Syndrome 43
Encephalofacial Hemangiomatosis Syndrome 43
Sturge-Weber Syndrome, Somatic, Mosaic 57
Meningo-Oculo-Facial Angiomatosis 43
Encephalofacial Hemangiomatosis 43
Weber-Sturge-Dimitri Syndrome 73
Phakomatosis, Sturge-Weber 43
Neuroretinoangiomatosis 43
Sturge Weber Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
somatic mosaicism


HPO:

31
sturge-weber syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Sturge-Weber Syndrome

MedlinePlus Genetics : 43 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.Most people with Sturge-Weber syndrome are born with a port-wine birthmark. This type of birthmark is caused by enlargement (dilatation) of small blood vessels (capillaries) near the surface of the skin. Port-wine birthmarks are typically initially flat and can vary in color from pale pink to deep purple. In people with Sturge-Weber syndrome, the port-wine birthmark is most often on the face, typically on the forehead, temple, or eyelid. The port-wine birthmark is usually only on one side of the face but can be on both sides. Over time, the skin within the port-wine birthmark can darken and thicken.In Sturge-Weber syndrome, there is usually abnormal formation and growth of blood vessels within the two thin layers of tissue that cover the brain and spinal cord. This abnormality, which is called leptomeningeal angioma, can affect one or both sides of the brain and impair blood flow in the brain and lead to loss of brain tissue (atrophy) and deposits of calcium (calcification) in the brain below the angioma. The decrease in blood flow caused by leptomeningeal angiomas can cause stroke-like episodes in people with Sturge-Weber syndrome. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), vision abnormalities, seizures, and migraine headaches. In affected individuals, these episodes usually begin by age 2. The seizures usually involve only one side of the brain (focal seizures), during which the port-wine birthmark may darken and individuals may lose consciousness. People with Sturge-Weber syndrome have varying levels of cognitive function, from normal intelligence to intellectual disability. Some individuals have learning disabilities with problems focusing similar to attention-deficit/hyperactivity disorder (ADHD).In individuals with Sturge-Weber syndrome, glaucoma typically develops either in infancy or early adulthood and can cause vision impairment. In some affected infants, the pressure can become so great that the eyeballs appear enlarged and bulging (buphthalmos). Individuals with Sturge-Weber syndrome can have tangles of abnormal blood vessels (hemangiomas) in various parts of the eye. When these abnormal blood vessels develop in the network of blood vessels at the back of the eye (choroid), it is called a diffuse choroidal hemangioma and occurs in about one-third of individuals with Sturge-Weber syndrome. A diffuse choroidal hemangioma can cause vision loss. When present, the eye abnormalities typically occur on the same side of the head as the port-wine birthmark.

MalaCards based summary : Sturge-Weber Syndrome, also known as sws, is related to weber syndrome and klippel-trenaunay-weber syndrome. An important gene associated with Sturge-Weber Syndrome is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are Signaling by GPCR and CCR5 Pathway in Macrophages. The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are capillary hemangioma and seizure

Disease Ontology : 12 A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has material basis in somatic mutation in GNAQ on chromosome 9q21.2.

GARD : 20 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.

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) (Updated 20-May-2021)

NINDS : 53 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.

KEGG : 36 Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome the hallmark of which is a facial port-wine stain (PWS) involving the first division of the trigeminal nerve, ipsilateral leptomeningeal angiomata, and angioma of the eye (leading to glaucoma). The clinical course is highly variable but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. Although patients with a PWS plus leptomeningeal involvement alone are generally diagnosed as having SWS, those with a facial PWS and glaucoma alone are usually classified separately or considered as having partial SWS. Leptomeningeal and choroidal vascular anomalies have also been described in the absence of a PWS and may represent another partial variant of SWS. A somatic activating missense mutation in the GNAQ gene was recently identified in affected tissues (both skin and brain). This gene encodes the Q-class G protein alpha-subunit, activation of which increases MAPK signaling. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option.

UniProtKB/Swiss-Prot : 72 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 : 73 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 349)
# Related Disease Score Top Affiliating Genes
1 weber syndrome 32.5 RASA1 GNAQ GNA11 FN1 CYP1B1
2 klippel-trenaunay-weber syndrome 32.4 SYNGAP1 RASA1 PIK3CA GNAQ
3 hemimegalencephaly 31.9 TSC2 SCN1A PIK3CA
4 angiomatosis 31.7 TSC2 PIK3CA GNAQ
5 hemangioma 31.6 TSC2 GNAQ GNA14 GNA11
6 cerebral angioma 30.9 GNAQ CYP1B1
7 capillary hemangioma 30.9 SYNGAP1 RASA1 GNA14
8 mongolian spot 30.8 GNAQ GNA11
9 hypomelanosis of ito 30.7 GNAQ GNA11
10 tuberous sclerosis 30.6 TSC2 PIK3CA NF2 NF1
11 focal epilepsy 29.8 TSC2 SCN1A GABRG2 CDKL5
12 meningioma, familial 29.8 RASA1 PIK3CA NF2 NF1
13 skin carcinoma 29.8 PIK3CA NF1 GNAQ GNA11 FN1
14 west syndrome 29.5 TSC2 SYNGAP1 SCN1A GABRG2 CDKL5
15 stuve-wiedemann syndrome 11.4
16 familial capillaro-venous leptomeningeal angiomatosis 11.4
17 heterochromia iridis 11.2
18 moyamoya disease 1 11.2
19 epilepsy with bilateral occipital calcifications 11.2
20 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.2
21 autism with port-wine stain 11.2
22 encephalocraniocutaneous lipomatosis 11.2
23 intraocular pressure quantitative trait locus 10.9
24 retinal detachment 10.8
25 seizure disorder 10.8
26 migraine with or without aura 1 10.7
27 hemiplegia 10.6
28 phacomatosis pigmentovascularis 10.6
29 epilepsy 10.6
30 status epilepticus 10.6
31 cerebral atrophy 10.6
32 gingival overgrowth 10.5
33 strabismus 10.5
34 arteriovenous malformation 10.5
35 mechanical strabismus 10.5
36 headache 10.5
37 overgrowth syndrome 10.4
38 phakomatosis cesioflammea 10.4 GNAQ GNA11
39 meningeal melanoma 10.4 GNAQ GNA11
40 meningeal melanomatosis 10.4 GNAQ GNA11
41 malignant leptomeningeal tumor 10.4 GNAQ GNA11
42 meningeal melanocytoma 10.4 GNAQ GNA11
43 nevus of ota 10.4
44 malignant dermis tumor 10.4 GNAQ GNA11
45 central nervous system melanocytic neoplasm 10.4 GNAQ GNA11
46 malignant skin fibrous histiocytoma 10.4 GNAQ GNA11
47 taylor's syndrome 10.4 SYNGAP1 RASA1
48 neurofibromatosis 10.4
49 early-onset glaucoma 10.4
50 angioosteohypertrophic syndrome 10.4

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:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 capillary hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0005306
2 seizure 31 hallmark (90%) HP:0001250
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
5 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
8 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
9 stroke 58 31 frequent (33%) Frequent (79-30%) HP:0001297
10 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
11 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
12 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
13 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
14 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
15 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
16 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
17 hearing abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000364
18 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
19 abnormal retinal vascular morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0008046
20 conjunctival telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000524
21 corneal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001131
22 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
23 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
24 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
25 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
26 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
27 hyperostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100774
28 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
29 visceral angiomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100761
30 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
31 abnormal choroid morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000610
32 hemianopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012377
33 seizures 58 Very frequent (99-80%)
34 abnormality of eye movement 58 Occasional (29-5%)
35 behavioral abnormality 58 Frequent (79-30%)
36 abnormality of the eye 58 Occasional (29-5%)
37 abnormality of vision 58 Occasional (29-5%)
38 buphthalmos 31 HP:0000557
39 abnormality of the cerebral vasculature 58 Frequent (79-30%)
40 facial hemangioma 31 HP:0000329
41 choroidal hemangioma 31 HP:0007872
42 arachnoid hemangiomatosis 31 HP:0012222

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 seen on ct scan

Head And Neck Face:
facial hemangiomata

Clinical features from OMIM®:

185300 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.13 NF2
2 Decreased cell migration GR00055-A-3 9.13 CDKL5 PIK3CA
3 Decreased HPV16-GFP infection GR00350-A 8.8 CYP1B1 GNAQ PIK3CA

MGI Mouse Phenotypes related to Sturge-Weber Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 CDKL5 GABRG2 GNA11 GNAQ NF1 NF2
2 nervous system MP:0003631 9.44 CDKL5 FN1 GABRG2 GNA11 GNAQ NF1

Drugs & Therapeutics for Sturge-Weber Syndrome

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

(show all 27)
# 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

Interventional clinical trials:

(show all 15)
# 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 Longitudinal Neuroimaging in Sturge-Weber Syndrome Recruiting NCT04517565
12 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
13 Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome Recruiting NCT04717427
14 Use of a Tonometer to Identify Focal Cortical Dysplasia and Tuberous Sclerosis Complex During Pediatric Epilepsy Surgery Recruiting NCT04344626
15 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 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:

40
Brain, Eye, Spinal Cord, Cortex, Skin, Kidney, Lung

Publications for Sturge-Weber Syndrome

Articles related to Sturge-Weber Syndrome:

(show top 50) (show all 1262)
# Title Authors PMID Year
1
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. 6 57 61
23656586 2013
2
Novel genetic mutations in a sporadic port-wine stain. 61 6
25188413 2014
3
Inhibitory actions of the gamma-aminobutyric acid in pediatric Sturge-Weber syndrome. 61 57
19743469 2009
4
White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome. 57 61
17698708 2007
5
Clinical findings of the phakomatoses: Sturge-Weber syndrome. 61 57
16505293 2006
6
Sturge-Weber syndrome: a review. 61 57
15165630 2004
7
Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue. 57 61
12621118 2003
8
Evidence of somatic mosaicism in Sturge-Weber syndrome. 61 57
12221183 2002
9
Sturge-Weber syndrome: correlation between clinical course and FDG PET findings. 57 61
11468301 2001
10
Choroid plexus size in young children with Sturge-Weber syndrome. 57 61
8770273 1996
11
Outcome of Sturge-Weber syndrome in 52 adults. 57 61
7645596 1995
12
Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. 61 57
3033033 1987
13
[A case of hereditary Sturge-Weber syndrome (author's transl)]. 57 61
491497 1979
14
A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. 20 61
29803545 2018
15
Screening for Sturge-Weber syndrome: A state-of-the-art review. 61 20
29034507 2018
16
Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes. 57
17937434 2007
17
Photodynamic therapy of circumscribed choroidal hemangioma. 57
12689885 2003
18
Ikeda S: Sturge-Weber and Klippel-Trénaunay syndrome with nevus of ota and ito. 57
5501905 1970
19
Extent of Leptomeningeal Capillary Malformation is Associated With Severity of Epilepsy in Sturge-Weber Syndrome. 61
33677229 2021
20
[Periodontal rehabilitation in a deaf patient with symptomatic epilepsy in Sturge-Weber syndrome - a case report]. 61
33789417 2021
21
Neuroimaging in infants and children in select neurocutaneous disorders. 61
33180972 2021
22
Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome. 61
32771470 2021
23
Surgical Management of Odontogenic Infection in Sturge-Weber Syndrome: Report of a Case. 61
33674501 2021
24
Diffuse choroidal hemangioma in Sturge-Weber syndrome treated with brachytherapy. 61
33172715 2021
25
Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome. 61
33707187 2021
26
Retinal Detachment in a 40-Year-Old Man With Sturge-Weber Syndrome. 61
33662098 2021
27
Paediatric glaucoma in Hong Kong: a multicentre retrospective analysis of epidemiology, presentation, clinical interventions, and outcomes. 61
33542158 2021
28
Sirolimus Treatment in Sturge-Weber Syndrome. 61
33316689 2021
29
Sturge-Weber syndrome presenting in late adulthood. 61
33568409 2021
30
Neuro-schistosomiasis with palm tree contrast enhancement pattern, a report of three cases, and review of literature. 61
33614113 2021
31
[A case of adult-onset Sturge-Weber syndrome type III without intracranial calcification, presenting with transient homonymous hemianopia]. 61
33504746 2021
32
OPTICAL COHERENCE TOMOGRAPHY AND OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY PARAMETERS IN PATIENTS WITH PHACOMATOSIS. 61
32355124 2021
33
Retrospective analysis of paediatric glaucoma at a tertiary referral centre in Hong Kong. 61
33104957 2021
34
The Diagnostic Value of Congenital and Nevoid Cutaneous Lesions Associated with Autism Spectrum Disorders in Indian Children- A Case-Control Study. 61
33768027 2021
35
HYPERMETABOLISM ON PEDIATRIC POSITRON EMISSION TOMOGRAPHY SCANS OF BRAIN GLUCOSE METABOLISM: What does it signify? 61
33452041 2021
36
Biomimetic phantom with anatomical accuracy for evaluating brain volumetric measurements with magnetic resonance imaging. 61
33532513 2021
37
The anatomic distribution of isolated and syndrome-associated port-wine stain. 61
33170527 2021
38
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
39
Facial hemihypertrophy in a girl with sturge-weber syndrome: Treatment with oral sirolimus. 61
33511637 2021
40
Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome. 61
33175124 2021
41
Sturge-Weber syndrome coexisting with polydactyly: a case report. 61
33407220 2021
42
Sirolimus as a Potential Treatment for Sturge-Weber Syndrome. 61
32941208 2021
43
Surgical Management of Facial Port-Wine Stain in Sturge Weber Syndrome. 61
33585124 2021
44
Lasers, Birthmarks, and Sturge-Weber Syndrome: A Pilot Survey. 61
32960979 2021
45
Oral Surgery in Patients With Sturge-Weber Syndrome. 61
32941214 2021
46
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
47
Teaching NeuroImages: Neurovascular features of suspected antenatal-onset Sturge-Weber syndrome without skin involvement. 61
32887775 2020
48
Case of Sturge-Weber syndrome type III diagnosed during dementia examination. 61
32940365 2020
49
Surgical Treatment for SWS Glaucoma: Experience From a Tertiary Referral Pediatric Hospital. 61
32852376 2020
50
Clinical profile and outcome of early surgery in neonatal-onset glaucoma presenting over a 5-year period. 61
33268344 2020

Variations for Sturge-Weber Syndrome

ClinVar genetic disease variations for Sturge-Weber Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNAQ NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) SNV Pathogenic 50853 rs397514698 GRCh37: 9:80412493-80412493
GRCh38: 9:77797577-77797577
2 GNAQ NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) SNV Pathogenic 50853 rs397514698 GRCh37: 9:80412493-80412493
GRCh38: 9:77797577-77797577

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

72
# Symbol AA change Variation ID SNP ID
1 GNAQ p.Arg183Gln VAR_067270 rs397514698

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:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.1 TSC2 SYNGAP1 RASA1 PIK3CA OR3A3 NF2
2
Show member pathways
12.79 PIK3CA GNAQ GNA15 GNA14 GNA11
3
Show member pathways
12.76 RASA1 PIK3CA GNA15 GNA14 GNA11
4
Show member pathways
12.63 SYNGAP1 RASA1 PIK3CA NF1 GNAQ
5
Show member pathways
12.43 RASA1 PIK3CA GNA15 GNA14 GNA11
6 12.38 SYNGAP1 SCN1A NF2 NF1 GNAQ GNA11
7
Show member pathways
12.29 RASA1 GNA15 GNA14 GNA11
8 12.29 GNAQ GNA15 GNA14 GNA11
9
Show member pathways
12.26 GNAQ GNA15 GNA14 GNA11
10
Show member pathways
12.22 PIK3CA GNAQ GNA15 GNA11
11
Show member pathways
12.21 PIK3CA GNA15 GNA14 GNA11
12
Show member pathways
12.17 SYNGAP1 RASA1 NF1 FN1
13
Show member pathways
12.08 TSC2 GNA15 GNA14 GNA11
14
Show member pathways
12.07 TSC2 PIK3CA GNAQ GNA11
15
Show member pathways
12.03 GNAQ GNA15 GNA14 GNA11
16
Show member pathways
11.93 SYNGAP1 RASA1 NF1 FN1
17 11.86 TSC2 NF2 NF1
18
Show member pathways
11.8 TSC2 GNAQ GNA15 GNA14 GNA11
19
Show member pathways
11.79 GNAQ GNA15 GNA14 GNA11
20 11.63 GNAQ GNA15 GNA14 GNA11
21 11.56 PIK3CA GNAQ GNA11
22 11.52 GNAQ GNA15 GNA14 GNA11
23 11.44 GNAQ GNA15 GNA11
24 11.44 PIK3CA GNAQ GNA15 GNA14 GNA11 FN1
25 11.39 GNA15 GNA14 GNA11
26 11.15 RASA1 NF1 FN1
27 11.09 GNAQ GNA15 GNA14 GNA11
28 10.92 SYNGAP1 RASA1 PIK3CA GNAQ GNA15 GNA14
29
Show member pathways
10.66 GNAQ GNA15 GNA14 GNA11

GO Terms for Sturge-Weber Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 heterotrimeric G-protein complex GO:0005834 8.92 GNAQ GNA15 GNA14 GNA11

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.06 SYNGAP1 RASA1 OR3A3 NF1 GNAQ GNA15
2 positive regulation of GTPase activity GO:0043547 9.8 TSC2 SYNGAP1 RASA1 NF1 GNAQ CDKL5
3 heart development GO:0007507 9.78 TSC2 NF1 GNA11 FN1
4 regulation of GTPase activity GO:0043087 9.7 SYNGAP1 RASA1 NF1
5 negative regulation of protein kinase activity GO:0006469 9.67 TSC2 NF2 NF1 GNAQ
6 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.56 GNAQ GNA15 GNA14 GNA11
7 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.54 GNAQ GNA11
8 amyloid fibril formation GO:1990000 9.51 SERF1B SERF1A
9 anoikis GO:0043276 9.49 TSC2 PIK3CA
10 phototransduction, visible light GO:0007603 9.46 GNAQ GNA11
11 entrainment of circadian clock GO:0009649 9.43 GNAQ GNA11
12 platelet activation GO:0030168 9.35 PIK3CA GNAQ GNA15 GNA14 GNA11
13 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.33 GNA15 GNA14 GNA11
14 action potential GO:0001508 9.02 SCN1A GNAQ GNA15 GNA14 GNA11

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.77 RASA1 GNAQ GNA15 GNA14 GNA11
2 GTPase activator activity GO:0005096 9.72 TSC2 SYNGAP1 RASA1 NF1 GNAQ
3 G protein-coupled receptor binding GO:0001664 9.56 GNAQ GNA15 GNA14 GNA11
4 G-protein beta/gamma-subunit complex binding GO:0031683 9.46 GNAQ GNA15 GNA14 GNA11
5 guanyl nucleotide binding GO:0019001 9.26 GNAQ GNA15 GNA14 GNA11
6 type 2A serotonin receptor binding GO:0031826 8.92 GNAQ GNA15 GNA14 GNA11

Sources for Sturge-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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