Combined Saposin Deficiency (PSAPD)

Combined Saposin Deficiency, also known as combined sap deficiency, is related to gaucher disease, type i and lysosomal storage disease, and has symptoms including muscular fasciculation and myoclonus. An important gene associated with Combined Saposin Deficiency is PSAP (Prosaposin), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Beta-Adrenergic Signaling. Affiliated tissues include eye and brain, and related phenotypes are abnormality of eye movement and hypotonia