MCID: STR079
MIFTS: 35

Sturge-Weber Syndrome, Somatic, Mosaic malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories

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

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Sources:
60UMLS, 45OMIM, 41NIH Rare Diseases, 42NINDS, 47Orphanet, 20GeneTests, 22GTR, 3CDC, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Sturge-Weber Syndrome, Somatic, Mosaic, Aliases & Descriptions:

Name: Sturge-Weber Syndrome, Somatic, Mosaic 45
Sturge-Weber Syndrome 45 41 42 47
Encephalotrigeminal Angiomatosis 41 42 47
Sturge Weber Syndrome 41 20 22
Sws 41 47 3
Sturge-Weber-Krabbe Angiomatosis 41 47
Sturge-Weber-Dimitri Syndrome 41 47
Encephalofacial Angiomatosis 41 47
 
Sturge-Weber-Krabbe Syndrome 41 47
Sws Type Ii - Facial Angioma Alone, No Cns Involvement 41
Sws Type I - Facial and Leptomeningeal Angiomas 41
Sws Type Iii - Isolated Leptomeningeal Angiomas 41
Meningeal Capillary Angiomatosis 41
Leptomeningeal Angiomatosis 41
Stuve-Wiedemann Syndrome 60
Fourth Phacomatosis 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
sturge-weber syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 185300
Orphanet47 3205
MESH via Orphanet34 D013341
ICD10 via Orphanet26 Q85.8
UMLS via Orphanet61 C0038505

Summaries for Sturge-Weber Syndrome, Somatic, Mosaic

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NIH Rare Diseases:41 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

MalaCards based summary: Sturge-Weber Syndrome, Somatic, Mosaic, also known as sturge-weber syndrome, is related to weber syndrome and choroiditis, and has symptoms including seizures, glaucoma and optic atrophy. An important gene associated with Sturge-Weber Syndrome, Somatic, Mosaic is CMC1 (C-x(9)-C motif containing 1). Affiliated tissues include brain, parietal lobe and eye.

CDC:3 CDC and the Safe Water System [2 pages]

NINDS:42 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.

OMIM:45 Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often... (185300) more...

Related Diseases for Sturge-Weber Syndrome, Somatic, Mosaic

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



Diseases related to sturge-weber syndrome, somatic, mosaic

Symptoms for Sturge-Weber Syndrome, Somatic, Mosaic

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Symptoms by clinical synopsis from OMIM:

185300

Clinical features from OMIM:

185300

Symptoms:

 47 (show all 30)
  • capillary hemangioma/nevus/naevus flammeus/port-wine stain
  • seizures/epilepsy/absences/spasms/status epilepticus
  • glaucoma
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cerebral vascular anomalies
  • transient cerebral ischemia/stroke
  • motor deficit/trouble
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperactivity/attention deficit
  • psychic/behavioural troubles
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • coloboma of iris
  • heterochromia/mixed colouring of iris
  • corneal dystrophy
  • conjunctival telangiectasia
  • choroidal anomalies/atrophy/choroideremia
  • retinal detachment
  • retinal vascular anomalies/retinal telangiectasia
  • visual loss/blindness/amblyopia
  • thickened/hypertrophic/fibromatous gingivae
  • anomalies of ear and hearing
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hydrocephaly
  • arnold-chiari anomaly
  • intracranial/cerebral calcifications
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autism/autistic disoders
  • bone tumefaction/swelling

HPO human phenotypes related to Sturge-Weber Syndrome, Somatic, Mosaic:

(show all 34)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 glaucoma typical (50%) HP:0000501
3 optic atrophy typical (50%) HP:0000648
4 hyperreflexia typical (50%) HP:0001347
5 cerebral ischemia typical (50%) HP:0002637
6 attention deficit hyperactivity disorder typical (50%) HP:0007018
7 cognitive impairment typical (50%) HP:0100543
8 gingival overgrowth occasional (7.5%) HP:0000212
9 hydrocephalus occasional (7.5%) HP:0000238
10 macrocephaly occasional (7.5%) HP:0000256
11 hearing abnormality occasional (7.5%) HP:0000364
12 visual impairment occasional (7.5%) HP:0000505
13 conjunctival telangiectasia occasional (7.5%) HP:0000524
14 retinal detachment occasional (7.5%) HP:0000541
15 iris coloboma occasional (7.5%) HP:0000612
16 autism occasional (7.5%) HP:0000717
17 heterochromia iridis occasional (7.5%) HP:0001100
18 corneal dystrophy occasional (7.5%) HP:0001131
19 choroideremia occasional (7.5%) HP:0001139
20 cerebral cortical atrophy occasional (7.5%) HP:0002120
21 neurological speech impairment occasional (7.5%) HP:0002167
22 arnold-chiari malformation occasional (7.5%) HP:0002308
23 cerebral calcification occasional (7.5%) HP:0002514
24 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
25 feeding difficulties in infancy occasional (7.5%) HP:0008872
26 macrocephaly HP:0000256
27 facial hemangioma HP:0000329
28 buphthalmos HP:0000557
29 intellectual disability HP:0001249
30 seizures HP:0001250
31 cerebral cortical atrophy HP:0002120
32 sporadic HP:0003745
33 choroidal hemangiomata HP:0007872
34 arachnoid hemangiomatosis HP:0012222

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

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Drug clinical trials:

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Genetic Tests for Sturge-Weber Syndrome, Somatic, Mosaic

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

id Genetic test Affiliating Genes
1 Sturge-Weber Syndrome20 22

Anatomical Context for Sturge-Weber Syndrome, Somatic, Mosaic

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

31
Brain, Parietal lobe, Eye, Bone, Skin

Animal Models for Sturge-Weber Syndrome, Somatic, Mosaic or affiliated genes

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Publications for Sturge-Weber Syndrome, Somatic, Mosaic

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Variations for Sturge-Weber Syndrome, Somatic, Mosaic

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

62
id Symbol AA change Variation ID SNP ID
1GNAQp.Arg183GlnVAR_067270

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1GNAQNM_002072.4(GNAQ): c.548G> A (p.Arg183Gln)single nucleotide variantPathogenicrs397514698GRCh37Chr 9, 80412493: 80412493

Expression for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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

Pathways for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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Compounds for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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GO Terms for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:00468729.1CMC1, GNAQ

Products for genes affiliated with Sturge-Weber Syndrome, Somatic, Mosaic

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Sources for Sturge-Weber Syndrome, Somatic, Mosaic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet