Pseudohypoparathyroidism type 1A

Orpha code: 79443OMIM code: 103580

Definition

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
Classification

Disease

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl