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complement factor H deficiency

Disease Summary
Associated Targets (1)


Explore Associated Targets
Uniprot Description A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome.
Mondo Term and Equivalent IDs
MONDO:0012350:  complement factor H deficiency
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found