Hypophosphatemic rickets [12 genes]

Hereditary hypophosphatemic rickets are a rare genetic disease characterized by hypophosphatemia due to loss of kidney phosphate, which causes a form of childhood rickets. Genetic defects following autosomal recessive, autosomal dominant, and X-linked inheritance patterns involved in phosphate metabolism and transport have been identified. The genes associated with the development of this disease physiologically affect bone mineralization due to dysregulation in the reabsorption and homeostasis of calcium metabolism ions.

1/250,000

  • Phosphate supplementation
  • Vitamin D analogs

Identifying genetic variants causing hypophosphatemic rickets allows for a precise molecular diagnosis that provides the necessary information to perform genetic counseling, direct patient management, and offers predictive value to carrier patients.

This panel is indicated when hypophosphatemic rickets syndrome is suspected, which may include the following clinical characteristics:

  • Hypophosphatemia
  • Nephrocalcinosis
  • Hypercalciuria
  • Osteomalacia
  • Childhood rickets

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Hypophosphatemic rickets

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202009003

Hypophosphatemic rickets: View panel
  • ALPL
  • CLCN5
  • CYP27B1
  • CYP2R1
  • DMP1
  • EHHADH
  • ENPP1
  • FGF23
  • PHEX
  • SLC34A1
  • SLC34A3
  • VDR

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Bitzan M, Goodyer PR. Hypophosphatemic Rickets. Pediatr Clin North Am. 2019 Feb;66(1):179-207. doi: 10.1016/j.pcl.2018.09.004. Review. PubMed PMID: 30454743.
  2. Bergwitz C, Miyamoto KI. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflugers Arch. 2019 Jan;471(1):149-163. doi: 10.1007/s00424-018-2184-2. Epub 2018 Aug 14. Review. PubMed PMID: 30109410.
  3. Lambert AS, Linglart A. Hypocalcaemic and hypophosphatemic rickets. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):455-476. doi: 10.1016/j.beem.2018.05.009. Epub 2018 Jul 4. Review. PubMed PMID: 30086869.