DPYD Chromosome 1

Dihydropyrimidine dehydrogenase
174 variants 18 Drug Response 156 Health Risk

Upload your DNA to see your personal genotypes for variants in DPYD.

What This Gene Does
The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
1p21.3
Ensembl
ENSG00000188641
Associated Conditions (37)
Dihydropyrimidine dehydrogenase deficiency
fluorouracil response - Toxicity
fluorouracil response - Other
DPYD-related disorder
Inborn genetic diseases
capecitabine response - Toxicity
Colorectal cancer
Adrenocortical carcinoma
hereditary
tegafur response - Toxicity
Fluorouracil response
Uterine carcinosarcoma
5-fluorouracil response
See cases
Hirschsprung disease
susceptibility to
1
Sarcoma
Lymphoma
Malignant tumor of esophagus
+17 more conditions
Key Variants
RS115232898
drug response
Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity, fluorouracil response - Other
Drug Response
RS148994843
drug response
fluorouracil response - Other, Inborn genetic diseases, fluorouracil response - Other
Drug Response
RS17376848
drug response
Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity, capecitabine response - Toxicity
Drug Response
RS1801158
drug response
Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
Drug Response
RS1801159
drug response
Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
Drug Response
RS1801160
drug response
Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, fluorouracil response - Toxicity
Drug Response
RS1801266
drug response
Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, Dihydropyrimidine dehydrogenase deficiency
Drug Response
RS1801268
drug response
fluorouracil response - Other, Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other
Drug Response
RS2297595
drug response
Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
Drug Response
RS55886062
drug response
Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, capecitabine response - Toxicity
Drug Response
RS56005131
drug response
Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, Inborn genetic diseases
Drug Response
RS56038477
drug response
Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
Drug Response
All Variants (174)
RSID Category Clinical Significance Conditions
RS115232898 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity, fluorouracil response - Other
RS148994843 Drug Response drug response fluorouracil response - Other, Inborn genetic diseases, fluorouracil response - Other
RS17376848 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity, capecitabine response - Toxicity
RS1801158 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
RS1801159 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
RS1801160 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, fluorouracil response - Toxicity
RS1801266 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, Dihydropyrimidine dehydrogenase deficiency
RS1801268 Drug Response drug response fluorouracil response - Other, Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other
RS2297595 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
RS55886062 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, capecitabine response - Toxicity
RS56005131 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, Inborn genetic diseases
RS56038477 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity, fluorouracil response - Toxicity
RS59086055 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other, fluorouracil response - Toxicity
RS67376798 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, Fluorouracil response, Inborn genetic diseases
RS72549303 Drug Response drug response fluorouracil response - Other, Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Other
RS72549306 Drug Response drug response fluorouracil response - Other, fluorouracil response - Other
RS75017182 Drug Response drug response capecitabine response - Toxicity, fluorouracil response - Toxicity, fluorouracil response - Other
RS78060119 Drug Response drug response Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity, fluorouracil response - Other
RS112766203 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS114096998 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS142619737 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS145529148 Health Risk Conflicting classifications of pathogenicity —
RS147601618 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1801265 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity, capecitabine response - Toxicity
RS183475941 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder, Inborn genetic diseases
RS189768576 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder, Dihydropyrimidine dehydrogenase deficiency
RS199777072 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS200562975 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS202011255 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367619008 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases, Dihydropyrimidine dehydrogenase deficiency
RS3918289 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases, Dihydropyrimidine dehydrogenase deficiency
RS45589337 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases, Dihydropyrimidine dehydrogenase deficiency
RS61622928 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS72549307 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases, Dihydropyrimidine dehydrogenase deficiency
RS746368304 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder, Dihydropyrimidine dehydrogenase deficiency
RS763165014 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS770320798 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772254904 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Uterine carcinosarcoma, Dihydropyrimidine dehydrogenase deficiency
RS777425216 Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder, Dihydropyrimidine dehydrogenase deficiency
RS1057516356 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516357 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516388 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516405 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516510 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516615 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516671 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516696 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516710 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516711 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516713 Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder
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