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 |
Hemolytic-Uremic Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hemolytic uremic syndrome (HUS) secondary to homozygous mutations in CD46 is uncommon.
|
26307634 |
2015 |
Hemolytic-Uremic Syndrome
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Conversely, most patients with MCP-HUS have preserved renal function.
|
21902819 |
2011 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Hemolytic-Uremic Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CFH and MCP haplotypes were also significantly different in HUS patients compared with controls.
|
15784724 |
2005 |
Hemolytic-Uremic Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CD46, a complement regulatory protein, predispose to atypical HUS.
|
15121049 |
2004 |
Hemolytic-Uremic Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Mutations in CD46, a complement regulatory protein, predispose to atypical HUS.
|
15121049 |
2004 |
Hemolytic-Uremic Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
MCP could be a second putative candidate gene for D-HUS.
|
14615110 |
2003 |
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 |
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 |
Hemolytic-Uremic Syndrome
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|