CFH
MIM.134370 1q32
Pathology
germline mutations in
- autosomal dominant hemolytic-uremic syndrome (MIM.235400)
- autosomal recessive hemolytic-uremic syndrome (MIM.235400)
- atypical nondiarrhea-associated HUS (MIM.235400)
- hypocomplementemic chronic nephropathy (hypocomplementemic hypertensive renal disease)
- combined factor H and FHL1 deficiency
- age-related macular degeneration (MIM.603075)