Pseudohypoparathyroidism type 1C

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Name:
Pseudohypoparathyroidism type 1C
Description:
Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) 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; see this term), but normal activity of the stimulatory protein G (Gs alpha).
ORPHAcode:
79444
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14