Conditions / Genetic
familial hypocalciuric hypercalcemia 3
info · Genetic · ICD-10: E83.5
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13.
Signs and symptoms
- Multiple lipomas
- Bone pain
- Hypercalcemia
- Hypermagnesemia
- Primary hyperparathyroidism
- Parathormone-independent increased renal tubular calcium reabsorption
- Osteomalacia
- Chondrocalcinosis
- Pancreatitis
- Hypocalciuria
Also known as: FHH type 3; HHC3; familial hypocalciuric hypercalcemia type 3; hypocalciuric hypercalcemia type III