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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-02-2017
Symbol HYP2
Location Xp11.23
Name hypophosphatemia, with vitamin D resistant rickets 2
Corresponding gene CLCN5
Main clinical features
  • hypercalciuria, gyromouse homolog, with inner ear abnormalities
  • X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency
  • Genetic determination sex linked
    Function/system disorder metabolism/membrane transport
    Type disease