Pseudohypoparathyroidism type 1C
ORPHA:79444· ICD-10 E20.1
Definition
Pseudohypoparathyroidism type 1c (PHP1c) is 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).
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal