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 |
|---|---|---|---|
| RS1057516761 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057516763 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057516828 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057516873 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057516894 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057516997 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517018 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517055 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517065 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517095 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517126 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517189 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517230 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517271 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517327 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057517396 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1064796552 | Health Risk | Likely pathogenic | — |
| RS1162905063 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1165702486 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1214305633 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1220608789 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1252510761 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1290522460 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1300669537 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1337420489 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1346124437 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1355754530 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1382838576 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1411354209 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1435774234 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1437370264 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1440380546 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1553197926 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1553201443 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1553201476 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1553212596 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1553247675 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1553251903 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1553251907 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1558014211 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1570632355 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1650431372 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1654652414 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1654782224 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1667161380 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1672325016 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2100972370 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2100972539 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2101035489 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2101557799 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |