Table 3.
Genetic defect | Phenotypical expression |
Duplication in the CFHR5 gene | C3 glomerulopathy (CFHR5 nephropathy) |
Duplication in the CFHR1 gene | C3 glomerulopathy |
Hybrid CFHR3/CFHR1 gene | C3 glomerulopathy |
Hybrid CFHR2/CFHR5 gene | C3 glomerulopathy |
Hybrid CFH/CFHR1 gene | aHUS |
Hybrid CFH/CFHR3 gene | aHUS |
CFHR: Complement factor H related; aHUS: Atypical hemolytic uremic syndrome.