|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Nine mutations were associated with genes known to be implicated in aHUS (CFH, CFI, CD46, CFHR5, and DGKE), while 4 and 5 mutations were detected on complement- (C8B, C9, and MASP1) and coagulation-associated (VWF and CD36) genes, respectively.
|
30905589 |
2019 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
|
28526779 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recessive loss-of-function mutations in the DGKε gene cause atypical hemolytic uremic syndrome.
|
28199087 |
2017 |
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
|
28526779 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The monogenic forms of TMA are more frequently caused by recessive alterations in von Willebrand factor cleaving protease ADAMST13, leading to congenital thrombotic thrombocytopenic purpura, or cobalamine C and DGKE genes, leading to an atypical hemolytic-uremic syndrome (aHUS)-like TMA. aHUS, whether idiopathic or linked to a known complement amplifying condition, is a TMA that primarily affects kidney function.
|
27177491 |
2016 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
DGKE, which is associated with nephrotic syndrome, is also mutated in patients with atypical haemolytic uraemic syndrome.
|
27374918 |
2016 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The report of aHUS-associated mutations in DGKE, encoding DGKE, led to re-examination of the noncoding DGKE variants obtained from next-generation sequencing, allowing identification of a novel intronic DGKE mutation (c.888+40A>G) that segregated with disease.
|
25854283 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Podocyte dysfunction with nephrotic-range proteinuria can also occur in forms of aHUS associated with genetic or autoimmune complement dysregulation without evidence of DGKE mutations.
|
25599621 |
2015 |
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
|
25854283 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Eighty-three patients with early-onset atypical hemolytic uremic syndrome (<2 years) enrolled in the Spanish atypical hemolytic uremic syndrome registry between 1999 and 2013 were screened for mutations in diacylglycerol kinase-ε.
|
25135762 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mechanistic studies of DGKE and aHUS are, therefore, essential to the design of appropriate therapeutic strategies in patients with DGKE mutations.
|
24511134 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic expansion of DGKE-associated diseases.
|
24511134 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A new study reports that recessive loss-of-function mutations in the gene encoding diacylglycerol kinase ε result in atypical hemolytic-uremic syndrome.
|
23619787 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
|
23542698 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Complement-mediated aHUS is distinct from bacterial shiga-toxin (produced e.g. by E. coli O:157 or O:104 serotypes) induced "typical" HUS, thrombotic thrombocytopenic purpura (TTP) associated with ADAMTS13 (an adamalysin enzyme) dysfunction and from a recently described disease related to mutations in intracellular diacylglycerol kinase ε (DGKE).
|
23743117 |
2013 |
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
|
23542698 |
2013 |
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
|
23274426 |
2013 |
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
|
23542698 |
2013 |
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
|
23274426 |
2013 |
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
|
23542698 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
NEPHROTIC SYNDROME, TYPE 7
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Hemolytic-Uremic Syndrome
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
Her genetic testing was abnormal for large CFHR1-CFHR3 homozygous deletion and heterozygous missense variant in exon 2 of DGKE making the diagnosis of atypical HUS.
|
29440240 |
2018 |