DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Disease: Dihydropyrimidine Dehydrogenase Deficiency ×
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 Biomarker disease GENOMICS_ENGLAND
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 CausalMutation disease CLINVAR
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 Dihydropyrimidine dehydrogenase is prone to marked circadian rhythms, drug-drug interactions, and genetic polymorphisms; influence of its erratic activity on 5-FU pharmacokinetics and toxicity profile has been extensively investigated, and it is now well known that DPD deficiency leads to severe toxicities with 5-FU or possibly capecitabine exposure. 17241513 2006
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 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 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 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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
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 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
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 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 GeneticVariation disease BEFREE Analysis of the crystal structure of pig DPD suggested that five out of eight amino acid exchanges present in these patients with a complete DPD deficiency, Pro86Leu, Ser201Arg, Ser492Leu, Asp949Val and His978Arg, interfered directly or indirectly with cofactor binding or electron transport. 11988088 2002
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease BEFREE cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria. 8083224 1994
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease CLINVAR Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. 17121937 2006
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease CLINVAR Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. 24648345 2014
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease UNIPROT Complete sequencing and characterization of 21,243 full-length human cDNAs. 14702039 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 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 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
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 Biomarker disease CTD_human Dihydropyrimidine dehydrogenase deficiency presenting at birth. 16151913 2005
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease CLINVAR Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GM₁ gangliosidosis. 22353294 2012