Version: 8.0.0
Date: Tue Jan 28 2025
pseudohypoparathyroidism type 1B
DOID:0080222
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

pseudohypoparathyroidism type 1B

Definition
A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. Mutations in GNAS, GNAS-AS1, and STX16 have been shown to alter the methylation pattern of GNAS.
Synonyms
  • PHP Ib
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