CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE The pathogenic variant in CD46 was also found in the mother who donated the kidney, indicating that the TMA occurred on the background of atypical HUS instead of severe hypertension. 30870849 2019
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE Hemolytic uremic syndrome (HUS) secondary to homozygous mutations in CD46 is uncommon. 26307634 2015
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 Biomarker disease GENOMICS_ENGLAND Conversely, most patients with MCP-HUS have preserved renal function. 21902819 2011
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE Apparently, the alternative pathway convertase C3bBb is central for the pathophysiology of HUS as gene mutations of the components (C3 and Factor B) or of regulators (Factor H, Factor I and MCP/CD46) are observed in the genetic form of HUS. 19190803 2009
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease LHGDN Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. 17914026 2008
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE The outcome of the disease reported here indicates that MCP mutation and complete paternal uniparental disomy of chromosome 1 could have an additive effect in determining the severity of the HUS phenotype. 17261436 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 Biomarker disease BEFREE Abnormal control of the complement alternative pathway (CAP) (factor H, factor I and membrane cofactor protein (MCP) deficiencies) is a well established risk factor for the occurrence of haemolytic uraemic syndrome (HUS). 17018561 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE However, we report the case of a 32-year-old woman with an MCP mutation who developed a recurrence of HUS after renal transplantation. 17617869 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease LHGDN The outcome of the disease reported here indicates that MCP mutation and complete paternal uniparental disomy of chromosome 1 could have an additive effect in determining the severity of the HUS phenotype. 17261436 2007
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease LHGDN Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. 16386793 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 Biomarker disease BEFREE MCP-HUS has a better prognosis and a better outcome after transplantation than either CFH-HUS or IF-HUS. 16968692 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 Biomarker disease BEFREE So far, mutations in single genes coding for the cofactor and complement regulator factor H, the membrane cofactor protein (MCP/CD46), the serine protease factor I, and autoantibodies to factor H have been linked to HUS. 16575689 2006
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE CFH and MCP haplotypes were also significantly different in HUS patients compared with controls. 15784724 2005
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. 15121049 2004
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease LHGDN Mutations in CD46, a complement regulatory protein, predispose to atypical HUS. 15121049 2004
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 Biomarker disease BEFREE MCP could be a second putative candidate gene for D-HUS. 14615110 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease BEFREE We hypothesized that MCP mutations could predispose to HUS, and we sequenced MCP coding exons in affected individuals from 30 families. 14566051 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 GeneticVariation disease LHGDN We hypothesized that MCP mutations could predispose to HUS, and we sequenced MCP coding exons in affected individuals from 30 families. 14566051 2003
CUI: C0019061
Disease: Hemolytic-Uremic Syndrome
Hemolytic-Uremic Syndrome
0.500 Biomarker disease HPO