Orphanet: Hyperparathyroidism jaw tumor syndrome
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Hyperparathyroidism-jaw tumor syndrome

Disease definition

A rare genetic disease characterized by synchronous or metachronous occurrence of primary hyperparathyroidism and ossifying fibroma of the maxilla and/or mandible, associated with an increased risk of parathyroid carcinoma. Occurrence of renal cysts or tumors, multiple uterine polyps, and thyroid tumors has also been reported.

ORPHA:99880

Classification level: Disorder
  • Synonym(s):
    • HPT-JT
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Adolescent, Adult
  • ICD-10: E21.0
  • OMIM: 145001
  • UMLS: C1704981
  • MeSH: -
  • GARD: 10829
  • MedDRA: -

Detailed information

Professionals

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