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Familial isolated hyperparathyroidism

ORPHA:99879· ICD-10 E21.0

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.

Prevalence
Unknown
Inheritance
Autosomal dominant
Age of onset
Adult