Pseudohypoparathyroidism type 1A

Orpha code: 79443OMIM code: 103580

Definicja

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

Disease data
Klasyfikacja

Disease

Synonimy
AHO-PHP syndrome Ia
AHO - PHP Ia
Dzidziczna osteodystrofia Albrighta - PHP Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
Kod ORPHA
79443
Kod OMIM
103580
Kod ICD10
E20.1
Kod ICD11
-

No additional description.

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