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GENATLAS PHENOTYPE

last update : 03-02-2010

Symbol	SRN3
Location	10q23.33
Name	steroid-resistant nephrotic syndrome 3
Corresponding gene	PLCE1
Main clinical features	focal segmental glomerulosclerosis or diffuse mesangial proliferation characterized to early chilhood onset of proteinuria, rapid progression to end-stage renal disease, with absence of recurrence after renal transplantation and absence of extra-renal signs
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)

any affected individuals responded to therapy, making this the first report of a molecular cause of nephrotic syndrome that may resolve after therapy