Conditions / Genetic
familial isolated hypoparathyroidism 1
info · Genetic
A familial isolated hypoparathyroidism that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone PTH gene on chromosome 11p15.
Signs and symptoms
- Hypocalcemic seizures
- Decreased circulating parathyroid hormone level
- Hypoparathyroidism
- Hyperphosphatemia
- Hypocalcemia
- Nephrocalcinosis
- Tetany
- Cataract
- Irritability
- Chvostek sign
Also known as: FIH1