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Sturge-Weber syndrome

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
Uniprot Description 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.
Mondo Term and Equivalent IDs
MONDO:0008501:  Sturge-Weber syndrome
DOID:0111563: 
GARD:0007706: 
MESH:D013341: 
NCIT:C3391: 
Orphanet:3205: 
SCTID:19886006: 
UMLS:C0038505: 
UMLS:CN204001: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)