Prolidase Deficiency (PD)

Prolidase Deficiency, also known as hyperimidodipeptiduria, is related to paroxysmal extreme pain disorder and splenomegaly, and has symptoms including petechiae of skin An important gene associated with Prolidase Deficiency is PEPD (Peptidase D), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and superpathway of L-citrulline metabolism. Affiliated tissues include skin and spleen, and related phenotypes are hearing impairment and depressed nasal bridge