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Pseudohypoparathyroidism type 1C

Disease 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).

ORPHA:79444

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E20.1
  • OMIM: 612462
  • UMLS: C2932716
  • MeSH: C548076
  • GARD: 10681
  • MedDRA: -

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