]> complement factor H deficiency NANDO:2200791 icd11.foundation:946399055 Orphanet:200421 UMLS:C0398777 OMIM:609814 MEDGEN:96024 GARD:0018551 ICD9:279.8 SCTID:234622003 MESH:C562875 factor H deficiency C3 glomerulopathy 1 immunodeficiency with factor H anomaly complement factor H deficiency CFH deficiency CFHD MONDO:0012350 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. https://www.malacards.org/card/immunodeficiency_with_factor_h_anomaly https://www.malacards.org/card/complement_factor_h_deficiency https://github.com/monarch-initiative/mondo/issues/9925 hereditary nephritis atypical hemolytic-uremic syndrome complement 3 glomerulopathy has material basis in germline mutation in CFH