Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndrome (NPHS2)
Nephrotic syndrome (NPHS2-related), also known as steroid-resistant nephrotic syndrome, is an autosomal recessive, pan-ethnic disorder caused by pathogenic variants in the gene NPHS2. Onset is usually during childhood or adolescence. Patients lose protein in their urine, which results in progressive kidney failure. Death will occur without a kidney transplant, usually by adolescence; however, many patients are cured after kidney transplant. Several specific variants may be associated with an earlier or later age of onset, but not all variants are known to have a genotype-phenotype correlation.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndrome||NPHS2||1-8  (*7)||AR||Worldwide||1 in 377||64%||0.000956937799043062|