SWS
MCID: STR079
MIFTS: 42

Sturge-Weber Syndrome, Somatic, Mosaic (SWS) malady

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

Aliases & Classifications for Sturge-Weber Syndrome, Somatic, Mosaic

Aliases & Descriptions for Sturge-Weber Syndrome, Somatic, Mosaic:

Name: Sturge-Weber Syndrome, Somatic, Mosaic 54
Sturge-Weber Syndrome 54 50 24 25 51 56 66 42
Sws 50 24 25 56 66 3
Encephalotrigeminal Angiomatosis 50 51 56
Sturge-Weber-Dimitri Syndrome 25 56
Encephalofacial Angiomatosis 50 56
Sturge-Weber-Krabbe Syndrome 25 56
Sturge Weber Syndrome 50 29
Meningofacial Angiomatosis-Cerebral Calcification Syndrome 25
Sws Type Ii - Facial Angioma Alone, No Cns Involvement 50
Sws Type I - Facial and Leptomeningeal Angiomas 50
Sws Type Iii - Isolated Leptomeningeal Angiomas 50
Angiomatosis Aculoorbital-Thalamic Syndrome 25
Encephalofacial Hemangiomatosis Syndrome 25
Sturge-Weber Syndrome, Somatic Mosaic 24
Meningo-Oculo-Facial Angiomatosis 25
Meningeal Capillary Angiomatosis 50
Sturge-Weber-Krabbe Angiomatosis 56
Encephalofacial Hemangiomatosis 25
Leptomeningeal Angiomatosis 50
Phakomatosis, Sturge-Weber 25
Neuroretinoangiomatosis 25
Fourth Phacomatosis 50

Characteristics:

Orphanet epidemiological data:

56
sturge-weber syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age;

HPO:

32
sturge-weber syndrome, somatic, mosaic:
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 185300
Orphanet 56 ORPHA3205
MESH via Orphanet 43 D013341
UMLS via Orphanet 70 C0038505
ICD10 via Orphanet 34 Q85.8
MedGen 40 C0038505
MeSH 42 D013341

Summaries for Sturge-Weber Syndrome, Somatic, Mosaic

NINDS : 51 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, Somatic, Mosaic, also known as sturge-weber syndrome, is related to familial capillaro-venous leptomeningeal angiomatosis and klippel-trenaunay-weber syndrome, and has symptoms including seizures, macrocephaly and hydrocephalus. An important gene associated with Sturge-Weber Syndrome, Somatic, Mosaic is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways is G-protein signaling_RhoA regulation pathway. The drugs Tranexamic Acid and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and parietal lobe, and related phenotype is limbs/digits/tail.

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.

NIH Rare Diseases : 50 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. last updated: 10/16/2013

OMIM : 54 Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often... (185300) more...

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.

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Sturge-Weber Syndrome, Somatic, Mosaic

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

(show top 50) (show all 99)
id Related Disease Score Top Affiliating Genes
1 familial capillaro-venous leptomeningeal angiomatosis 12.2
2 klippel-trenaunay-weber syndrome 11.6
3 heterochromia iridis 11.5
4 stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome 11.4
5 weber syndrome 11.2
6 moyamoya disease 11.1
7 hemimegalencephaly 11.1
8 angiomatosis, leptomeningeal capillary venous 11.0
9 dravet syndrome 10.8
10 3-beta-hydroxysteroid dehydrogenase, type ii, deficiency 10.8
11 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.8
12 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 10.8
13 17-alpha-hydroxylase/17,20-lyase deficiency 10.8
14 parasomnia, sleepwalking type 10.8
15 choroiditis 10.6
16 hemangioma 10.5
17 cerebritis 10.5
18 angiomatosis 10.5
19 epilepsy 10.5
20 retinitis 10.4
21 periodontitis 10.3
22 retinal detachment 10.3
23 tuberous sclerosis 10.3
24 headache 10.2
25 vascular malformation 10.2
26 phacomatosis pigmentovascularis 10.2
27 arteriovenous malformation 10.1
28 hemiplegic migraine 10.1
29 gingivitis 10.1
30 pyogenic granuloma 10.1
31 status epilepticus 10.1
32 hemiplegia 10.1
33 hypomelanosis of ito 10.0
34 seizure disorder 10.0
35 hypopituitarism 10.0
36 esotropia 10.0
37 early-onset glaucoma 10.0
38 hypothyroidism 10.0
39 multiple myeloma 10.0
40 cerebral atrophy 10.0
41 liposarcoma 10.0
42 chondrosarcoma 9.9
43 psychotic disorder 9.9
44 thyroiditis 9.9
45 growth hormone deficiency 9.9
46 syndactyly 9.9
47 basal cell carcinoma 9.9
48 childhood leukemia 9.9
49 hypoxia 9.9
50 coats disease 9.9

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



Diseases related to Sturge-Weber Syndrome, Somatic, Mosaic

Symptoms & Phenotypes for Sturge-Weber Syndrome, Somatic, Mosaic

Symptoms by clinical synopsis from OMIM:

185300

Clinical features from OMIM:

185300

Human phenotypes related to Sturge-Weber Syndrome, Somatic, Mosaic:

56 32 (show all 42)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Very frequent (99-80%) HP:0001250
2 macrocephaly 56 32 Occasional (29-5%) HP:0000256
3 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 hyperreflexia 56 32 Frequent (79-30%) HP:0001347
6 dysphagia 56 32 Occasional (29-5%) HP:0002015
7 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
8 cerebral calcification 56 32 Occasional (29-5%) HP:0002514
9 gingival overgrowth 56 32 Occasional (29-5%) HP:0000212
10 optic atrophy 56 32 Frequent (79-30%) HP:0000648
11 blindness 56 32 Occasional (29-5%) HP:0000618
12 pulmonary embolism 56 32 Occasional (29-5%) HP:0002204
13 strabismus 56 32 Frequent (79-30%) HP:0000486
14 corneal dystrophy 56 32 Occasional (29-5%) HP:0001131
15 hearing abnormality 56 32 Occasional (29-5%) HP:0000364
16 attention deficit hyperactivity disorder 56 32 Frequent (79-30%) HP:0007018
17 venous thrombosis 56 32 Occasional (29-5%) HP:0004936
18 cerebral cortical atrophy 56 32 Occasional (29-5%) HP:0002120
19 abnormality of the retinal vasculature 56 32 Occasional (29-5%) HP:0008046
20 heterochromia iridis 56 32 Occasional (29-5%) HP:0001100
21 conjunctival telangiectasia 56 32 Occasional (29-5%) HP:0000524
22 arnold-chiari malformation 56 32 Occasional (29-5%) HP:0002308
23 glaucoma 56 32 Frequent (79-30%) HP:0000501
24 retinal detachment 56 32 Occasional (29-5%) HP:0000541
25 capillary hemangiomas 56 32 Very frequent (99-80%) HP:0005306
26 visceral angiomatosis 56 32 Occasional (29-5%) HP:0100761
27 abnormality of the choroid 56 32 Occasional (29-5%) HP:0000610
28 hyperostosis 56 32 Occasional (29-5%) HP:0100774
29 stroke 56 32 Frequent (79-30%) HP:0001297
30 iris coloboma 56 32 Occasional (29-5%) HP:0000612
31 autistic behavior 56 32 Occasional (29-5%) HP:0000729
32 abnormality of eye movement 56 Occasional (29-5%)
33 behavioral abnormality 56 Frequent (79-30%)
34 abnormality of the eye 56 Occasional (29-5%)
35 abnormality of vision 56 Occasional (29-5%)
36 hemianopsia 56 Occasional (29-5%)
37 abnormality of the cerebral vasculature 56 Frequent (79-30%)
38 buphthalmos 32 HP:0000557
39 facial hemangioma 32 HP:0000329
40 choroidal hemangioma 32 HP:0007872
41 arachnoid hemangiomatosis 32 HP:0012222
42 hemianopia 32 HP:0012377

MGI Mouse Phenotypes related to Sturge-Weber Syndrome, Somatic, Mosaic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 GNAQ LIFR

Drugs & Therapeutics for Sturge-Weber Syndrome, Somatic, Mosaic

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

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
5 Antifibrinolytic Agents Phase 3
6 Coagulants Phase 3
7 Hemostatics Phase 3
8 Anti-Bacterial Agents Phase 2, Phase 3
9 Antibiotics, Antitubercular Phase 2, Phase 3
10 Antifungal Agents Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Immunosuppressive Agents Phase 2, Phase 3
13 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
14 Anticonvulsants Phase 1, Phase 2
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents 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 Anti-Arrhythmia Agents Phase 1
23 Antihypertensive Agents Phase 1
24 Lubricant Eye Drops Phase 1
25 Neurotransmitter Agents Phase 1
26 Ophthalmic Solutions Phase 1
27 Tetrahydrozoline Phase 1
28 Antibodies
29 Immunoglobulins
30 GTPase-Activating Proteins

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Tranexamic Acid and Epistaxis in Hereditary Hemorrhagic Telangiectasia (HHT) Completed NCT01031992 Phase 3
2 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3
3 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2
4 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2
5 Efficacy of Thalidomide in the Treatment of Hereditary Hemorrhagic Telangiectasia Active, not recruiting NCT01485224 Phase 2
6 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2
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
9 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
10 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
11 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
12 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
13 Immunmodulation in Patients With HHT Recruiting NCT02983253
14 Symptoms and Treatment Results in Hereditary Hemorrhagic Telangiectasia Recruiting NCT02690246
15 Institutional Registry of Haemorrhagic Hereditary Telangiectasia Recruiting NCT01761981
16 Lymphatic Anomalies Registry Recruiting NCT02399527
17 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857

Search NIH Clinical Center for Sturge-Weber Syndrome, Somatic, Mosaic

Cochrane evidence based reviews: sturge-weber syndrome

Genetic Tests for Sturge-Weber Syndrome, Somatic, Mosaic

Genetic tests related to Sturge-Weber Syndrome, Somatic, Mosaic:

id Genetic test Affiliating Genes
1 Sturge-Weber Syndrome 29 24
2 Sturge-Weber Syndrome, Somatic Mosaic 24 GNAQ

Anatomical Context for Sturge-Weber Syndrome, Somatic, Mosaic

MalaCards organs/tissues related to Sturge-Weber Syndrome, Somatic, Mosaic:

39
Brain, Eye, Parietal Lobe, Skin, Cortex

Publications for Sturge-Weber Syndrome, Somatic, Mosaic

Variations for Sturge-Weber Syndrome, Somatic, Mosaic

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

66
id Symbol AA change Variation ID SNP ID
1 GNAQ p.Arg183Gln VAR_067270 rs397514698

ClinVar genetic disease variations for Sturge-Weber Syndrome, Somatic, Mosaic:

6
id 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

Expression for Sturge-Weber Syndrome, Somatic, Mosaic

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

Pathways for Sturge-Weber Syndrome, Somatic, Mosaic

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

id Super pathways Score Top Affiliating Genes
1 10.31 GNAQ LIFR

GO Terms for Sturge-Weber Syndrome, Somatic, Mosaic

Sources for Sturge-Weber Syndrome, Somatic, Mosaic

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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