Gillespie Syndrome (GLSP)

Gillespie Syndrome, also known as aniridia-cerebellar ataxia-intellectual disability syndrome, is related to aniridia 2 and aniridia 1, and has symptoms including ataxia, cerebellar ataxia and static tremor. An important gene associated with Gillespie Syndrome is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Regulation of actin dynamics for phagocytic cup formation and Beta-2 adrenergic-dependent CFTR expression. Affiliated tissues include eye and cerebellum, and related phenotypes are intellectual disability and ataxia