Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish Nephrosis (NPHS1)

Nephrotic syndrome (NPHS1-related), also known as congenital Finnish nephrosis, is an autosomal recessive disorder caused by pathogenic variants in the gene NPHS1. Although it has been reported in ethnicities around the world, it is particularly common in the Finnish population, as well as individuals from certain Amish communities. Onset is during the prenatal period, where affected individuals lose large amounts of protein in their urine. Babies are born small and premature with large placentas. Without a kidney transplant, there will be rapid progression to end-stage kidney failure and death. Many patients are cured after kidney transplant, but some will relapse. Rarely, patients have been identified with a milder phenotype that does not require transplantation. The common Finnish variants cause the severe, infantile-onset disease.









Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish NephrosisNPHS12-22, 24, 26, 27 [29] (*6)ARWorldwide1 in 32566%0.0010482180293501
Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish NephrosisNPHS12-22, 24, 26, 27 [29] (*6)ARFinnish1 in 45>95%0.00113507377979569
Nephrotic Syndrome (NPHS1-Related) / Congenital Finnish NephrosisNPHS12-22, 24, 26, 27 [29] (*6)ARGroffdale Conference Mennonites1 in 12>95%0.00452488687782805