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disease: Factor H deficiency

id993
nameFactor H deficiency
descriptionC3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.
variant-disease NM_000186.3(CFH):c.1291T>A (p.Cys431Ser) AND Factor H deficiency
NM_000186.3(CFH):c.2876G>A (p.Cys959Tyr) AND Factor H deficiency
NM_000186.3(CFH):c.668_670AGA[1] (p.Lys224del) AND Factor H deficiency
NM_000186.3(CFH):c.1606T>C (p.Cys536Arg) AND Factor H deficiency
NM_000186.3(CFH):c.380G>T (p.Arg127Leu) AND Factor H deficiency
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