Sturge-weber syndrome

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;

Détails

Origin ID

185300;

UMLS CUI

C0038505;

Automatic exact mappings (from CISMeF team)
- GNAQ wt Allele [NCIt concept]
- LIFR wt Allele [NCIt concept]
- Sturge-Weber syndrome [DO Concept]
- patatin like phospholipase domain containing 6 [ORDO Gene]
- waardenburg syndrome, type 4 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Sturge Weber syndrome [Disease (Nov.)]
- Sturge-Weber Syndrome [NCIt concept]
- Sturge-Weber syndrome [ICD-11 More detail]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Sturge-Weber syndrome [MeSH concept]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-Weber syndrome [ACR pathology]
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
- encephalotrigeminal angiomatosis [Radlex concept]
- sturge-weber sequence [SNOMED Notion]
- sturge-weber syndrome [MeSH Descriptor]
DO Cross reference
- Sturge-Weber syndrome [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, q polypeptide [OMIM gene]
HPO term(s)
- Arachnoid hemangiomatosis [HPO term]
- Buphthalmos [HPO term]
- Cerebral cortical atrophy [HPO term]
- Choroidal hemangioma [HPO term]
- Facial hemangioma [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Macrocephaly [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Sturge-Weber syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Encephalocutaneous angiomatosis [MedDRA Preferred Term]
- Milles' syndrome [MedDRA LLT]
- Parkes Weber syndrome [ORDO Disease]
- Parkes Weber syndrome (disorder) [SNOMED CT concept]
- Parkes-Weber syndrome [MedDRA Preferred Term]
- Schirmer's syndrome [MedDRA LLT]
- Sturge Weber syndrome [Disease (Nov.)]
- Sturge-Weber Syndrome [NCIt concept]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Sturge-Weber syndrome [ORDO Disease]
- Sturge-Weber syndrome [MeSH concept]
- Sturge-Weber syndrome [ACR pathology]
- Sturge-Weber syndrome [DO Concept]
- Sturge-Weber syndrome (disorder) [SNOMED CT concept]
- encephalotrigeminal angiomatosis [Radlex concept]
- sturge-weber sequence [SNOMED Notion]
- sturge-weber syndrome [MeSH Descriptor]

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