Conditions / Genetic
pseudohypoparathyroidism type 1B
info · Genetic
A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mu
A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.
Signs and symptoms
- Low urinary cyclic AMP response to PTH administration
- Elevated circulating parathyroid hormone level
- Hyperphosphatemia
- Hypocalcemia
- Pseudohypoparathyroidism
- Brachydactyly
- Short metacarpal
- Obesity
Also known as: PHP Ib