Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene.
|
12562666 |
2003 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutation IVS14 + 1 G > A, DPYD*2A, is the most common mutation associated with DPD deficiency.
|
17165084 |
2007 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
Severe neurotoxicity following 5-fluorouracil-based chemotherapy in a patient with dihydropyrimidine dehydrogenase deficiency.
|
9816193 |
1996 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.
|
11988088 |
2002 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dihydropyrimidine dehydrogenase (DPD) is the initial enzyme in the catabolism of 5-fluorouracil (5FU) and DPD deficiency is an important pharmacogenetic syndrome.
|
22339448 |
2012 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most prominent mutation of the DPD gene resulting in severe DPD deficiency is a G to A mutation in the GT 5'-splice recognition site of intron 14 (exon 14-skipping mutation).
|
11555601 |
2001 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to identify the molecular defect underlying complete DPD deficiency in a Dutch patient previously shown to have a 165 base pair deletion in the mature DPD mRNA, we cloned the genomic region encompassing the skipped exon and its flanking intron sequences.
|
8892022 |
1996 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Pharmacokinetics of orally administered uracil in healthy volunteers and in DPD-deficient patients, a possible tool for screening of DPD deficiency.
|
21590448 |
2011 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Known variant DPYD alleles do not explain DPD deficiency in cancer patients.
|
10803677 |
2000 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
|
19296131 |
2009 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.
|
9266349 |
1997 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The variability of DPD enzyme activity in population studies and the different DPYD alleles together with new phenotypic and genotypic methods of screening for DPD deficiency will also be reviewed.
|
15377401 |
2004 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deficiency in human DPD is associated with autosomal recessive disease, thymine-uraciluria, and with severe 5-fluorouracil toxicity in cancer patients.
|
16556484 |
2007 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Studies have highlighted a link between the complete or partial loss of DYPD function and clinical responses to 5-FU; however, the underlying molecular basis of DPD deficiency remains poorly understood.
|
30226808 |
2019 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A reduced functional or abrogated DPD enzyme is often caused by genetic polymorphisms in DPYD, the gene encoding for DPD, and heterozygous carriers of such DPYD polymorphisms have a partial DPD deficiency.
|
29045513 |
2017 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Dihydropyrimidine dehydrogenase (DPD) deficiency (McKusick 274270) is an autosomal recessive disease characterized by thymine-uraciluria in homozygous-deficient patients and associated with a variable clinical phenotype.
|
9439663 |
1997 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DPYD genotyping for alleles 7, *2A, *13 and Y186C was not helpful in the identification of patients with severe DPD deficiency in this series of patients.
|
27399164 |
2016 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU) and a DPD deficiency is increasingly being recognized as an important pharmacogenetic factor in the aetiology of severe 5FU-associated toxicity.
|
12360106 |
2002 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DPYD is involved in autosomal recessive dihydropyrimidine dehydrogenase deficiency.
|
22003227 |
2011 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The steady-state concentration of 5-FU administered through the hepatic artery was achieved after 15 h. DPD levels were analysed through determining the ratio of plasma uracil (U) and dihydrouracil (UH2) by HPLC, and the results indicated a mild DPD deficiency in the patients with HCC.
|
29725440 |
2018 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Recently, hypermethylation of the DPYD promoter region has been proposed as an alternative mechanism for DPD deficiency and thus as a major cause of severe 5-FU toxicity.
|
18937829 |
2008 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
|
26804652 |
2016 |