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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease BEFREE Known variant DPYD alleles do not explain DPD deficiency in cancer patients. 10803677 2000
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease BEFREE DPYD is involved in autosomal recessive dihydropyrimidine dehydrogenase deficiency. 22003227 2011
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease BEFREE Diagnosis was made by gas chromatographic-mass spectrometric detection of thymine-uraciluria and by molecular detection of a G to A point mutation in a 5'-splicing site leading to skipping of exon 14 in the DPYD gene of chromosome location 1q22. 12668826 2003
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease BEFREE Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. 7832988 1995
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease BEFREE We conclude that (a) lethal toxicity can occur in partially DPD-deficient individuals after administration of 5-FU and is not exclusive to profoundly DPD-deficient individuals as suggested previously, (b) the complicated heterozygote genotype seen in these patients, combined with DPD deficiency being an autosomal codominant inherited syndrome, precludes the use of simple genotyping assays that identify only one or two mutations as a method for identifying DPD-deficient individuals; and (c) these multiple heterozygote genotypes (which are more difficult to accurately characterize) may be responsible for some of the conflicting reports which suggests a lack of correlation between phenotype and genotype. 12912951 2003
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 AlteredExpression disease BEFREE Of the 13 Indian subjects [ten men and three women; mean age, 26 years (range: 21-31 years)] enrolled in the UraBT, 12 Indian subjects demonstrated UraBT breath profiles and PBMC DPD activity within the normal range; one Indian subject demonstrated a reduced breath profile and partial DPD deficiency. 16421754 2006
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 Biomarker disease BEFREE Healthy African-American (n=149) and Caucasian (n=109) volunteers were evaluated for DPD deficiency using both the [2-(13)C]uracil breath test and peripheral blood mononuclear cell DPD radioassay. 17000684 2006
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 Biomarker disease BEFREE Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity. 3335642 1988
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 AlteredExpression disease BEFREE Further insight into regulation of DPD expression may identify new avenues for the treatment of clinical problems associated with DPD deficiency. 10777676 2000