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Table 2 New Classification and nomenclature of “Inactivating PTH/PTHrP Signalling Disorders” (IPPSDs) – Adapted from Position Statement EuroPHP Network 2016

From: Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

iPPSD Molecular Cause Main Features
iPPSD1 Mutations in the coding sequence of PTH1R gene PTH resistance and/or brachydactyly
iPPSD2 Mutations in the coding sequence of GNAS gene (formerly PHP1A, PHP1C, PPHP/AHO/POH) PTH resistance and/or subcutaneous ossifications and/or brachydactyly
iPPSD3 Abnormal methylation at the GNAS A/B:TSS-DMR (formerly PHP1B) PTH resistance
iPPSD4 Mutations in the coding sequence of PRKAR1A gene PTH resistance and/or brachydactyly
iPPSD5 Mutations in the coding sequence of PDE4D gene Brachydactyly
iPPSD6 Mutations in the coding sequence of PDE3D gene Brachydactyly +/− hypertension
  1. Abbreviations: iPPSDs Inactivating PTH/PTHrP signaling disorders