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GENATLAS PHENOTYPE

last update : 06-12-2017

Symbol	NPHS12
Location	16q13
Name	nephrotic syndrome, type 12
Corresponding gene	NUP93
Main clinical features	renal disorder caused by defects in the renal glomerular filter; affected individuals have onset of progressive renal failure in the first years of life renal biopsy typically shows focal segmental glomerulosclerosis (FSGS) steroid-resistant nephrotic syndrome; age at onset ranged from 1 to 6 years and end-stage kidney disease became apparent between 1 and 11 years
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
Type	disease

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