Familial isolated hypoparathyroidism
ORPHA:2238· ICD-10 E20.8
Definition
A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- All ages