H number H00246
Name Primary hyperparathyroidism;
Familial hyperparathyroidism (HRPT)
Description Familial hyperparathyroidism is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene.
Category Endocrine disease; Urinary system disease