Rare Hypophosphataemia

The condition specific module was launched in January 2023 and is the work of the Rare Hypophosphataemia Study Group.

This module covers the following diagnosis:

  • X- linked hypophosphataemia  ORPHA:89936
  • Autosomal dominant hypophosphataemic rickets ORPHA:89937
  • Autosomal recessive hypophosphataemic rickets ORPHA:289176
  • Dominant hypophosphataemia with nephrolithiasis or osteoporosis ORPHA:244305
  • Hereditary hypophosphataemic rickets with hypercalciuria ORPHA:157215
  • Dent disease ORPHA:1652

Would you like to start using the module?  Get access to the Core Registry here and read the instructions about how to use the module. After entering the patient in the Core Registry, the Rare Hypophosphataemia module appears automatically and is ready to use.

This module collects data on the diagnostic and care pathway of patients with these conditions. Additionally, the study group has recommended the yearly collection of the following PROMs (patient-reported outcome measures): EQ-5D​, BPI-SF, MSK-QL​, OHIP​-14.

The module should be updated every 12 months in adults and every 6 months in children when patients are under active control. If not, updates should be provided every 3 years. Additional data can be entered any time.

The full data dictionary can be downloaded here when available.

Tools used in the module and other resources:

Brief Pain Inventory 




Calculation of the TmP/GFR to evaluate renal phosphate transport.

Intercondylar distance

Intermalleolar distance

Rickets severity score

Do not forget: the generic outcomes (applicable to all conditions) EQ-5D and ICF should be assessed yearly for all bone  and mineral conditions, either by the clinician or by patients with access to the platform.

If you have questions or interest in joining the study group, please contact us at registries@lumc.nl.

This page has last been updated in May 2023, for the most up-to-date information on our Rare Hypophosphataemia Module, please visit our new website.