Pseudohypoparathyroidism type 1C

Definition

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).

Disease data

Classification

Disease

ORPHA code

79444

OMIM code

612462

ICD10 code

E20.1

ICD11 code

*Soruce