Primary Hyperoxaluria, Type 2 (GRHPR)
Primary hyperoxaluria, type 2 is an autosomal recessive, pan-ethnic disease caused by pathogenic variants in the GRHPR gene. Age of onset is typically in infancy or early childhood, and the disease is characterized by the accumulation of calcium oxalate in the kidney and urinary tract, which leads to the development of kidney stones and progressive kidney failure. Eventually, end-stage kidney disease may occur, requiring a kidney transplant. However, the clinical severity of this disease is quite variable; some patients never progress to end-stage kidney disease, and others may remain asymptomatic. Life expectancy depends on the severity of the disease; those with mild or no symptoms have a normal life expectancy, but those with end-stage renal disease will require kidney transplants for survival. No genotype-phenotype correlation has been reported.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Primary Hyperoxaluria, Type 2||GRHPR||2, 4-9  (*6)||AR||Worldwide||< 1 in 500||73%||0.000540832882639265|