KEGG   DISEASE: Dihydropyrimidine dehydrogenase deficiency
Entry
H00193                      Disease                                
Name
Dihydropyrimidine dehydrogenase deficiency
Description
Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00193  Dihydropyrimidine dehydrogenase deficiency
Pathway
hsa00240  Pyrimidine metabolism
hsa00983  Drug metabolism - other enzymes
Gene
DPYD [HSA:1806] [KO:K00207]
Other DBs
ICD-11: 5C55.1
ICD-10: E79.8
MeSH: D054067
OMIM: 274270
Reference
PMID:17905396
  Authors
Ben Fredj R, Gross E, Chouchen L, B'Chir F, Ben Ahmed S, Neubauer S, Kiechle M, Saguem S
  Title
Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.
  Journal
C R Biol 330:764-9 (2007)
DOI:10.1016/j.crvi.2007.08.003
Reference
PMID:17876700
  Authors
Okamoto Y, Ueta A, Sumi S, Ito T, Okubo Y, Jose Y, Ninomiya A, Togari H, Nishida M
  Title
SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit.
  Journal
Biochem Genet 45:713-24 (2007)
DOI:10.1007/s10528-007-9109-7

» Japanese version

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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