Pseudohypoparathyroidism type 1C Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) 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; see this term), but normal activity of the stimulatory protein G (Gs alpha). (Orphanet Rare Disease Ontology, Orphanet_79444)
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1 genes associated with the Pseudohypoparathyroidism type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
GNAS GNAS complex locus