Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
syndrome
rare disease neurocutaneous disorder |
| gptkbp:affects |
gptkb:skin
brain eyes |
| gptkbp:alsoKnownAs |
encephalotrigeminal angiomatosis
|
| gptkbp:causedBy |
somatic mutation in GNAQ gene
|
| gptkbp:characterizedBy |
intellectual disability
glaucoma seizures hemiparesis facial port-wine stain leptomeningeal angioma |
| gptkbp:complication |
learning disabilities
visual impairment stroke-like episodes |
| gptkbp:diagnosedBy |
gptkb:CT_scan
MRI clinical examination |
| gptkbp:firstDescribed |
gptkb:Frederick_Parkes_Weber
William Allen Sturge |
| https://www.w3.org/2000/01/rdf-schema#label |
Sturge-Weber syndrome
|
| gptkbp:ICD-10_code |
Q85.8
|
| gptkbp:inheritance |
not inherited
|
| gptkbp:MeSH_ID |
D013331
|
| gptkbp:OMIM |
185300
|
| gptkbp:onset |
present at birth
|
| gptkbp:prevalence |
1 in 20,000 to 50,000 live births
|
| gptkbp:symptom |
epilepsy
headache paralysis muscle weakness glaucoma vision loss seizures developmental delay migraine learning difficulties behavioral problems hemiparesis port-wine stain leptomeningeal angioma |
| gptkbp:treatment |
physical therapy
laser therapy antiepileptic drugs eye drops for glaucoma |
| gptkbp:bfsParent |
gptkb:Gq_protein
|
| gptkbp:bfsLayer |
6
|