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pseudohypoparathyroidism type 1B

Disease Summary
Associated Targets (5)
Tbio

5


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by end-organ resistance to parathyroid hormone, hypocalcemia and hyperphosphatemia. Patients affected with PHP1B lack developmental defects characteristic of Albright hereditary osteodystrophy, and typically show no other endocrine abnormalities besides resistance to PTH.
Mondo Term and Equivalent IDs
MONDO:0011301:  pseudohypoparathyroidism type 1B
GARD:0010680: 
MESH:C548075: 
Orphanet:94089: 
UMLS:C2932715: