Hyperparathyroidism-jaw tumor syndrome

Hyperparathyroidism-jaw tumor syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumors, most notably, tumors in the mandible or maxilla 2.

Approximately 200 cases have been reported in the medical literature. 

Onset most commonly is in early adulthood or late adolescence, with the condition characterized by hyperparathyroidism and tumors:

Hyperparathyroidism-jaw tumor syndrome is usually caused by mutations in the CDC73 gene (also known as the HRPT2 tumor suppressor gene) 2. This gene is responsible for the creation of parafibromin which is a protein responsible for various gene transcriptions throughout the body as well as regulating cell growth and proliferation. Mutations often cause a parafibromin protein that is too short and non-functional 1. This anomaly is inherited in an autosomal dominant pattern 3.

Share article

Article information

rID: 62677
Section: Syndromes
Synonyms or Alternate Spellings:
  • HPT-JT syndrome
  • Hyperparathyroidism-jaw tumor syndrome

Support Radiopaedia and see fewer ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.