Pseudohypoparathyroidism type 1B

Definition

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) 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.

Also known as pseudohypoparathyroidism Ib — per MONDO

Also identified as

• DOID 0080222 per MONDO
• MESH C548075 per MONDO
• OMIM 603233 per MONDO
• Orphanet 94089 per MONDO
• UMLS C1864100 per MONDO