Schaaf-Yang Syndrome

About the Disease
Schaaf-Yang Syndrome, also known as prader-willi-like syndrome, is related to hypotonia and leptin deficiency or dysfunction, and has symptoms including constipation An important gene associated with Schaaf-Yang Syndrome is MAGEL2 (MAGE Family Member L2), and among its related pathways/superpathways are Prader-Willi and Angelman syndrome and p75(NTR)-mediated signaling. Affiliated tissues include pituitary, skin and eye, and related phenotypes are abnormal facial shape and neonatal hypotonia

Common Targets
MAGEL2 | SORD

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