DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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