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last update : 30-11-2016
Symbol HRPT2
Location 1q31.2
Name hyperparathyroidism 2
Other name(s)
  • hyperparathyroidism, familial primary with multiple ossifying jaw fibromas
  • hyperparathyroidism, familial isolated, primary
  • Corresponding gene CDC73
    Other symbol(s) HPTJT, FIHP, HRPT1
    Main clinical features
  • with jaw, parathyroid and Wilms or renal hamartoma tumors, see TSG1F, in Portuguese kindreds
  • multiple parathyroid adenomas and endocrine adenomatosis without evidence of other endocrinologic abnormalities, complicated by multiple ossifying jaw fibromas
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name parafibromin
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function mutations identified predicted to truncate parafibromin upstream of or within the NLS disrupt nuclear localization