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Pseudohypoparathyroidism type 1C
rareA rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).
- Identifiers
- MONDO:0012911 OMIM:612462Orphanet:79444
- Causal genes
- GNAS
- Part of
- Acromelic dysplasiaDisorder of GNAS inactivationOsteonecrosis of genetic originPrimary avascular necrosisPseudohypoparathyroidism
- Also known as
- PHP1C · pseudohypoparathyroidism Ic · pseudohypoparathyroidism, type IC
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