Pseudohypoparathyroidism type 1C

Pseudohypoparathyroidism type 1C

Definition

A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).

Also known as pseudohypoparathyroidism Ic — per MONDO

Also identified as