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ENSturge-Weber Syndrome (SWS)
Alias:
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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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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