Pseudohypoparathyroidism type 2

Orpha code: 94090OMIM code: 203330

Definicja

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
Klasyfikacja

Disease

Kod ORPHA
94090
Kod OMIM
203330
Kod ICD10
E20.1
Kod ICD11
-

No additional description.

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