Rare Hypophosphataemia

Rare Hypophosphataemia

The condition specific module was launched in January 2023 and is the work of the Rare Hypophosphataemia Working Group. This module aims to collect baseline and longitudinal data on the reported cases of rare hypophosphataemia.

Want to start using the module? Get access to the Core Registry and read the instructions (, 1 MB).

If you have questions or interest in joining the working group, please contact us on: registries@lumc.nl.

The full data dictionary can be downloaded here.

After entering the patient with the diagnosis of any type of Rare Hypophosphataemia in the Core Registry, the Rare Hypophosphataemia module appears automatically and is ready to use.

This module covers the following diagnoses:

  • 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

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.

Tools used in the module

Calculation of the TmP/GFR evaluate renal phosphate transport.

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