Disease

Hemimegalencephaly

About the Disease
Hemimegalencephaly, also known as unilateral megalencephaly, is related to megalencephaly-capillary malformation-polymicrogyria syndrome and megalencephaly. An important gene associated with Hemimegalencephaly is MTOR (Mechanistic Target Of Rapamycin Kinase), and among its related pathways/superpathways are Cellular responses to stimuli and PIP3 activates AKT signaling. Affiliated tissues include brain, cortex and olfactory bulb, and related phenotypes are hyperintensity of cerebral white matter on mri and ventriculomegaly

Common Targets
G5728 | G2475 | PIK3CA | AKT3

疾病靶点研报
Hemimegalencephaly

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