pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
MONDO:0019992
pseudohypoparathyroidism
is_a
MONDO:0800466
disorder of GNAS inactivation
is_a
PHP1B
related
pseudohypoparathyroidism Ib
exact
pseudohypoparathyroidism, type IB
related
SPAC823.05c