Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome

Curr Mol Med. 2004 Dec;4(8):895-7. doi: 10.2174/1566524043359719.


Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a familial multi-tumor syndrome resulting from mutations in the HRPT2 tumor suppressor gene, which encodes a protein product named parafibromin. We review current knowledge of the renal manifestations of the HPT-JT syndrome, and examine recent advances in understanding the biological function of parafibromin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Neoplasms / genetics*
  • Genes, Tumor Suppressor
  • Humans
  • Hyperparathyroidism / genetics*
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology*
  • Syndrome