Gaucher Disease, Perinatal Lethal (GDPL)

Gaucher Disease, Perinatal Lethal, also known as gaucher disease perinatal lethal, is related to gaucher disease, type ii and gaucher's disease, and has symptoms including apnea, seizures and opisthotonus. An important gene associated with Gaucher Disease, Perinatal Lethal is GBA1 (Glucosylceramidase Beta 1), and among its related pathways/superpathways are Sphingolipid metabolism and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). Affiliated tissues include skin and bone marrow, and related phenotypes are ichthyosis and hydrops fetalis