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Overview of mutations in complement factor H related protein genes
| 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.
