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 |
GeneticVariation
|
disease |
BEFREE |
DPD gene mutation analysis was negative for the IVS14+1G>A mutation in the DPD gene, which accounts for 50% of the DPD deficiency alleles.
|
30875351 |
2019 |
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 |
GeneticVariation
|
disease |
BEFREE |
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
|
29691939 |
2018 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.
|
28929491 |
2018 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
|
26804652 |
2016 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although prospective DPYD genotyping is a valuable tool to identify patients with DPD deficiency, and thus those at risk for severe and potential life-threatening toxicity, prospective genotyping has not yet been implemented in daily clinical care.
|
26716401 |
2016 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.
|
26265035 |
2016 |
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 |
CLINVAR |
Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.
|
24648345 |
2014 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Different tests based on assessing DPD enzyme activity, genetic variants in DPYD and mRNA variants have been studied for screening for DPD deficiency, but none of these are implemented broadly into clinical practice.
|
23856855 |
2013 |
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 |
CLINVAR |
Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GM₁ gangliosidosis.
|
22353294 |
2012 |
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 |
GeneticVariation
|
disease |
BEFREE |
DPYD is involved in autosomal recessive dihydropyrimidine dehydrogenase deficiency.
|
22003227 |
2011 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Like other DPD variants attenuating FAD binding, Lys63Glu should be included in screening for DPD deficiency.
|
21420945 |
2011 |
Dihydropyrimidine Dehydrogenase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, severe toxicity is a major clinical problem and has been reported in association with deleterious sequence variants in dihydropyrimidine dehydrogenase (DPD) coding-gene (DPYD), causing DPD deficiency.
|
19795123 |
2010 |
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 |
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 |
Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.
|
19104657 |
2008 |
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 |
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 |