Familial Hemophagocytic Lymphohistiocytosis 5 (FHL5)

Familial Hemophagocytic Lymphohistiocytosis 5, also known as hplh5, is related to microvillus inclusion disease and hemophagocytic lymphohistiocytosis, familial, 1. An important gene associated with Familial Hemophagocytic Lymphohistiocytosis 5 is STXBP2 (Syntaxin Binding Protein 2), and among its related pathways/superpathways are trans-Golgi Network Vesicle Budding and N-glycan antennae elongation in the medial/trans-Golgi. Affiliated tissues include smooth muscle and nk cells, and related phenotypes are splenomegaly and fever