Belgian Genetic Tests database
Pseudohypoparathyroidism type 1A
| Name: |
Pseudohypoparathyroidism type 1A
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| Description: |
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).
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| ORPHAcode: |
79443
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| Synonyms: |
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
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| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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