Atypical Hemolytic Uremic Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
MGD |
|
|
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.
|
10577907 |
1999 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
|
11170895 |
2001 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Most important, all three aHUS-associated factor H proteins have a normal cofactor activity in the proteolysis of fluid-phase C3b by factor I but show very low binding to surface-bound C3b.
|
12424708 |
2002 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Of 111 patients with aHUS (68 female, 43 male, mean age 33 years) 14% had FH1 germline mutations, including two of eight patients with familial aHUS.
|
12960213 |
2003 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H.
|
15140578 |
2004 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Complement factor H (FH) deficiency is one of the causes of atypical hemolytic uremic syndrome (HUS).
|
14986080 |
2004 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.
|
14978182 |
2004 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Factor H mutations have been described in 15-30% of patients with atypical haemolytic uraemic syndrome (HUS).
|
15121049 |
2004 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.
|
15784724 |
2005 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir.
|
15696434 |
2005 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Factor H mutations at the C-terminus are associated with atypical hemolytic uremic syndrome, a condition in which platelets are consumed.
|
15634279 |
2005 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CFH mutation screening is recommended in all aHUS patients prior to renal transplantation because of the high risk of disease recurrence post-transplant in those known to have a CFH mutation.
|
17076561 |
2006 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe monozygotic female twins who presented at 5 years of age with factor H-related (c.3572 > T; Ser1191Leu) atypical hemolytic uremic syndrome within months of each other.
|
16431247 |
2006 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CFH mutations are associated with atypical hemolytic uremic syndrome (aHUS).
|
16470555 |
2006 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Accordingly, an interactive factor H aHUS Web database has been developed (http://www.fh-hus.org) that integrates genotypic, phenotypic, and structural information for mutations within human factor H. This provides a valuable tool for the interpretation of previously reported aHUS mutations, and provides prediction and analysis tools for new mutations.
|
16575691 |
2006 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in the C-terminal region of Factor H are associated with atypical hemolytic uremic syndrome, whereas homozygous Factor H deficiency is more frequently associated with membranoproliferative glomerulonephritis type II (MPGN II).The report of Licht et al. of a mutation in the complement-regulatory N-terminal region of Factor H in MPGN II provides additional insight into the pathogenesis of this condition.
|
16810287 |
2006 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent data show that atypical hemolytic uremic syndrome is a genetic disease and gene mutations have been reported for factor H, membrane cofactor protein/CD46 and factor I.
|
16896298 |
2006 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome.
|
16528247 |
2006 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Age <3 mo at onset seems to be characteristic of CFH and IF mutation-associated aHUS.
|
17599974 |
2007 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
|
17367211 |
2007 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report on a case of neonatal-onset aHUS associated with complete FH deficiency due to novel compound heterozygous mutations in the HF1 gene.
|
17295030 |
2007 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
These animals represent the first model of aHUS and provide in vivo evidence that effective plasma C3 regulation and the defective control of complement activation on renal endothelium are the critical events in the molecular pathogenesis of FH-associated aHUS.
|
17517971 |
2007 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Previously, we presented a database (www.FH-HUS.org) focusing on aHUS mutations in the Factor H gene (CFH).
|
17089378 |
2007 |