Primary Hyperoxaluria, Type 3 (HOGA1)
Primary hyperoxaluria, type 3 is an autosomal recessive disease caused by pathogenic variants in the HOGA1 gene. While it has been diagnosed in patients of various ethnicities, it may be more prevalent in individuals of Ashkenazi Jewish descent due to the presence of a founder mutation. Age of onset is typically in childhood, and the disease is characterized by the accumulation of calcium oxalate in the kidney and urinary tract, leading to kidney stone formation. Some patients have a milder phenotype where they do not develop kidney stones. Life expectancy is not thought to be affected, and no genotype-phenotype correlation has been reported.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Primary Hyperoxaluria, Type 3||HOGA1||1-7  (c.700+5G>T, p.G287V, p.E315del)||AR||Ashkenazi Jewish||N/A||>95%|
|Primary Hyperoxaluria, Type 3||HOGA1||1-7  (c.700+5G>T, p.G287V, p.E315del)||AR||Worldwide||1 in 309||73%||0.000875656742556918|