complement factor H deficiency
Any complement 3 glomerulopathy caused by variation(s) in the CFH gene, characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properdin, complement C3 and terminal complement components.
MONDO:0016244
atypical hemolytic-uremic syndrome
excluded_subClassOf
MONDO:0005334
hereditary nephritis
is_a
MONDO:0018013
complement 3 glomerulopathy
is_a
C3 glomerulopathy 1
exact
CFH deficiency
exact
CFHD
related
complement factor H deficiency
exact
factor H deficiency
exact
immunodeficiency with factor H anomaly
exact