ObjectiveTo summarize the clinical and genetic characteristics of parathyroid disease associated with CDC73 gene mutation.MethodsThe related literatures on CDC73 gene mutation and parathyroid diseases were collected and reviewed.ResultsCDC73 gene is a tumor suppressor gene which encodes parafibromin protein. CDC73 gene mutation may lead to the decrease or absence of expression of parafibromin protein. CDC73 gene mutation was directly associated with hyperthyroid-jaw tumor syndrome and 15% to 20% patients were associated with parathyroid carcinoma. Their first-degree relatives may also carry CDC73 gene mutation. Partial sporadic parathyroid carcinoma was associated with CDC73 mutation.ConclusionsCDC73 gene mutation is associated with various kinds of parathyroid diseases. Detection of CDC73 gene sequences and immunohistochemical analysis of parafibromin protein may be applied in the diagnosis and improve the prognosis of parathyroid diseases.