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Familial isolated hyperparathyroidism

Disease definition

A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.


Classification level: Disorder
  • Synonym(s):
    • FIHPT
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E21.0
  • ICD-11: 5A51.0
  • OMIM: 145000  600166  610071  617343  618883
  • UMLS: C4551961
  • MeSH: C564166
  • GARD: -
  • MedDRA: -

Detailed information


Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.