Conditions / Genetic
familial hypocalciuric hypercalcemia 1
info · Genetic · ICD-10: E83.5
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
Signs and symptoms
- Hypermagnesemia
- Hypercalcemia
- Hypocalciuria
- Hyperparathyroidism
- Kidney stone
- Pancreatitis
- Parathyroid adenoma
- Hypercalciuria
Also known as: FHH type 1; HHC1; familial benign hypercalcemia 1; familial hypocalciuric hypercalcemia type I; hypocalciuric hypercalcemia type I