DPYD Chromosome 1
Dihydropyrimidine dehydrogenase
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 |
|---|---|---|---|
| RS2101558812 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2101975422 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2102259303 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2523608314 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2523745739 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2523808126 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2523871765 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2523873242 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524026293 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524026345 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524094119 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524206318 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524206768 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524207205 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524268975 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524347160 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524373926 | Health Risk | Likely pathogenic | DPYD-related disorder, Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder |
| RS2524374326 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524392157 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524392830 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524538529 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524539576 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524554561 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524774440 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2525218019 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2525218826 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2525218835 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2525244930 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS372307932 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS377221676 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS577302209 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72549308 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS748974194 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS752329473 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS753296078 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS754745863 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS754785410 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS755031341 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS755416212 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, 5-fluorouracil response, Dihydropyrimidine dehydrogenase deficiency |
| RS757940841 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS760156122 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS764584080 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS766535034 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS768020954 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS768834079 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS769167857 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS769925158 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS771839581 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS772950053 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS773499329 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |