Sturge-Weber Syndrome (SWS)

Sturge-Weber Syndrome(来自ICD-11)

别称:

Sws

Encephalotrigeminal Angiomatosis

Sturge-Weber-Dimitri Syndrome

Sturge-Weber-Krabbe Syndrome

Sturge-Weber-Krabbe Angiomatosis

Encephalofacial Angiomatosis

Sturge-Weber Syndrome, Somatic, Mosaic

Meningofacial Angiomatosis-Cerebral Calcification Syndrome

Angiomatosis Aculoorbital-Thalamic Syndrome

Encephalofacial Hemangiomatosis Syndrome

Meningo-Oculo-Facial Angiomatosis

Meningeal Capillary Angiomatosis

Angiomatosis Encephalotrigeminal

Encephalofacial Hemangiomatosis

Weber-Sturge-Dimitri Syndrome

Leptomeningeal Angiomatosis

Phakomatosis, Sturge-Weber

Neuroretinoangiomatosis

Fourth Phacomatosis

Phacomatosis Fourth

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Sturge-Weber Syndrome, also known as sws, is related to hemimegalencephaly and capillary malformations, congenital. An important gene associated with Sturge-Weber Syndrome is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Temsirolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are seizure and capillary hemangioma

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