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Pseudohypoparathyroidism type 1B

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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.

Identifiers
MONDO:0011301 OMIM:603233Orphanet:94089
Part of
Disorder of GNAS inactivationPseudohypoparathyroidism
Also known as
PHP1B · pseudohypoparathyroidism Ib · pseudohypoparathyroidism, type IB

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