Gaucher Disease, Type I (GD1)

Gaucher Disease, Type I, also known as acid beta-glucosidase deficiency, is related to gaucher disease, perinatal lethal and hereditary late-onset parkinson disease, and has symptoms including dyspnea and bone pain. An important gene associated with Gaucher Disease, Type I is GBA1 (Glucosylceramidase Beta 1), and among its related pathways/superpathways are Neuroscience and Sphingolipid metabolism. The drugs Ledipasvir and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are osteopenia and splenomegaly