X-linked dominant hypophosphatemic rickets

Summary
Synonym
  • Hypophosphatemia, Vitamin D-Resistant Rickets
  • Vitamin D-Resistant Rickets, X-Linked
  • X-linked hypophosphatemia
  • hypophosphatemic rickets X-linked dominant
Definition
A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.
Super Class
X-linked dominant disease rickets
External Links
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
1591 CYP24A1 cytochrome P450 family 24 subfamily A member 1
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
3897 L1CAM L1 cell adhesion molecule
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
6514 SLC2A2 solute carrier family 2 member 2
9365 KL klotho
653509 SFTPA1 surfactant protein A1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024