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GENATLAS PHENOTYPE

last update : 28-09-2021

Symbol	C3G3
Location	1q31.3
Name	nephropathy due to CFHR5 deficiency
Corresponding gene	CFHR5
Main clinical features	onset of microscopic or macroscopic hematuria in the first 3 decades of life, followed by variable progression of renal disease after age 30, about half of patients continue to have episodic hematuria while maintaining normal renal function, whereas the other half develop proteinuria and progressive renal failure or end-stage renal disease
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)