Preferred Label : Sturge-weber syndrome;
Symbol : SWS;
CISMeF acronym : SWS;
Type : Phenotype, molecular basis known;
Description : 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).;
Inheritance : Somatic mosaicism;
Molecular basis : Caused by somatic mosaic mutation in the guanine nucleotide-binding protein q gene
(GNAQ, 600998.0001);
Prefixed ID : #185300;
Origin ID : 185300;
UMLS CUI : C0038505;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)