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