Conditions / Genetic
familial hypocalciuric hypercalcemia 2
info · Genetic · ICD-10: E83.5
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13.
Signs and symptoms
- Hypermagnesemia
- Multiple lipomas
- Primary hyperparathyroidism
- Parathormone-independent increased renal tubular calcium reabsorption
- Chondrocalcinosis
- Hypercalcemia
- Pancreatitis
- Hypocalciuria
- Peptic ulcer
- Kidney stone
Also known as: FHH type 2; HHC2; familial hypocalciuric hypercalcemia type 2; hypocalciuric hypercalcemia type II