Deficiencies in CFH can result in different phenotypes. Affected individuals may be asymptomatic, or be susceptible to recurrent BACTERIAL INFECTIONS, and KIDNEY DISEASES including RENAL FAILURE. Laboratory results usually show decreased serum levels of factor H, COMPLEMENT C3, and a decrease in other ALTERNATIVE COMPLEMENT PATHWAY components and activation. Shows phenotypic overlap with complement factor I deficiency (OMIM: 610984). Both dominant and recessive inheritance has been reported for CFH deficiency. May be associated with mutations in the HF1 gene. OMIM: 609814
Also Known As:
C3G-1 Complement 3 Glomerulopathy 1; C3G1 C3 glomerulopathy 1; CFH Deficiency; Factor H Deficiency; Glomerulonephritis With Isolated C3 Deposits And Factor H Deficiency; MPGN II with Complement Factor H Deficiency; Membranoproliferative Glomerulonephritis, Type II, With Complement Factor H Deficiency