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GENATLAS PHENOTYPE

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

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