CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Diarrhea-negative hemolytic uremic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1268937
Disease: Diarrhea-negative hemolytic uremic syndrome
Diarrhea-negative hemolytic uremic syndrome 		0.020 GeneticVariation disease BEFREE Diarrhea-negative HUS is associated with complement dysregulation in up to 50% of cases, caused by mutations in complement factor H, membrane cofactor protein, factor I or factor B, or by autoantibodies against factor H. The incomplete penetrance of mutations in either ADAMTS13 or complement regulatory genes suggests that precipitating events or triggers may be required to cause thrombotic microangiopathy in many patients. 18215115 2008
CUI: C1268937
Disease: Diarrhea-negative hemolytic uremic syndrome
Diarrhea-negative hemolytic uremic syndrome 		0.020 GeneticVariation disease BEFREE Three HF1 polymorphic variants were strongly associated with D-HUS: -257T (promoter region), 2089G (exonXIV, silent) and 2881T (963Asp, SCR16). 14583443 2003