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Pseudohypoparathyroidism type 1B

Disease definition

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

ORPHA:94089

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent
  • ICD-10: E20.1
  • OMIM: 603233
  • UMLS: C2932715
  • MeSH: C548075
  • GARD: 10680
  • MedDRA: -

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