Conditions / Genetic
autosomal dominant hypocalcemia 1
info · Genetic
An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
Signs and symptoms
- Muscle spasm
- Hypocalcemia
- Hypomagnesemia
- Hyperphosphatemia
- Hypercalciuria
- Nephrocalcinosis
- Paresthesia
- Seizure
- Decreased circulating parathyroid hormone level
- Kidney stone
Also known as: HYPOC1