Pseudohypoparathyroidism type 2

Definition

Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.

Disease data

Classification

Disease

ORPHA code

94090

OMIM code

203330

ICD10 code

E20.1

ICD11 code

*Soruce