Orphanet: Pseudohypoparathyroidism type 1A

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Pseudohypoparathyroidism type 1A

Disease definition

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).


Classification level: Disorder
  • Synonym(s):
    • AHO-PHP syndrome Ia
    • Albright hereditary osteodystrophy-PHP syndrome Ia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E20.1
  • OMIM: 103580
  • UMLS: C3494506
  • MeSH: -
  • GARD: 7486
  • MedDRA: -

Detailed information


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