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GENATLAS PHENOTYPE

last update : 06-10-2021

Symbol	NPHL1
Location	Xp11.23
Name	nephrolithiasis, recessive, with renal failure
Corresponding gene	CLCN5
Other symbol(s)	XRN
Main clinical features	proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency, also been referred to as the 'Dent disease complex'
Genetic determination	sex linked
Function/system disorder	metabolism/membrane transport
Type	disease

Gene product

Name	chloride voltage-gated channel 5 (CLCN5)

Remark(s)