|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Atypical hemolytic-uremic syndrome: recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes.
|
30676336 |
2019 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We present a case of chronic thrombotic microangiopathy (TMA) after kidney transplantation in a recipient who had been classified as hypertensive ESRD and found to have a genetic defect in CD46, a transmembrane protein that regulates complement activation, indicating atypical hemolytic uremic syndrome (HUS).
|
30870849 |
2019 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease.
|
28176476 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FH and MCP are linked to atypical hemolytic uremic syndrome, a type of thrombotic microangiopathy (TMA) that causes renal failure.
|
28057640 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.
|
28056875 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience.
|
25899302 |
2016 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.
|
26559391 |
2016 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.
|
26307634 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri.
|
24944786 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
|
23431077 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, these data suggest that genotyping for the risk haplotypes in CFH and MCP may help predict the risk of developing aHUS in unaffected carriers of mutations.
|
23431077 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in proteins that regulate complement (factor H, factor I, MCP/CD46, thrombomodulin) or promote (C3, factor B) amplification of its alternative pathway or anti-factor H antibodies predispose to aHUS.
|
23743117 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Only membrane cofactor protein (MCP) and undetermined aHUS were less severe in children than adults.
|
23307876 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.
|
23731345 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We presented the second reported case of aHUS associated with a heterozygous c.191G > T mutation in exon 2 of MCP who responded rapidly to plasma exchange.
|
24005975 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of a 22-year-old man who presented with clinical features of atypical haemolytic uraemic syndrome and in whom genetic analysis of complement regulatory proteins demonstrated a CD46 mutation.
|
23780777 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB), thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies against factor H (αFH) with or without a homozygous deletion in CFH-related protein 1 and 3 (∆CFHR1/3) predispose development of atypical hemolytic uremic syndrome (aHUS).
|
22410797 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this individual, the development of aHUS has been facilitated by the combination of a trigger (pregnancy), an acquired rare genetic variant (CFH mutation) and a common susceptibility factor (CD46 haplotype).
|
22420623 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly, 4 patients had mutations only in MCP, without mutations in any of the other genes that cause aHUS.
|
21706448 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Previously, we identified pathogenic variations in genes encoding complement regulators (CFH, CFI and MCP) in our aHUS cohort.
|
22622361 |
2012 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we found weak indications that there is one protective and one risk haplotype predisposing to nephritis composed of several polymorphisms in noncoding regions of CD46, which were previously implicated in aHUS.
|
22171659 |
2011 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Atypical hemolytic uremic syndrome.
|
21902819 |
2011 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hereditary atypical hemolytic uremic syndrome (aHUS), a dramatic disease frequently leading to dialysis, is associated with germline mutations of the CFH, CD46, or CFI genes.
|
21906045 |
2011 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
|
20513133 |
2010 |