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 |
|---|---|---|---|
| RS776692894 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS778614771 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS779557503 | Health Risk | Likely pathogenic | — |
| RS867460475 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS928629166 | Health Risk | Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1660305188 | Health Risk | Pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1669337684 | Health Risk | Pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2101026231 | Health Risk | Pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2524094344 | Health Risk | Pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72547602 | Health Risk | Pathogenic | Fluorouracil response, Fluorouracil response |
| RS72549309 | Health Risk | Pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS1057516968 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, DPYD-related disorder, Dihydropyrimidine dehydrogenase deficiency |
| RS1207177925 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, See cases, Dihydropyrimidine dehydrogenase deficiency |
| RS141597515 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS146170505 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS2525245079 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS3918290 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Fluorouracil response, Hirschsprung disease |
| RS568132506 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72549304 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS72549310 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS746991079 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS749571474 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS759372918 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency |
| RS779948148 | Health Risk | Pathogenic/Likely pathogenic | Dihydropyrimidine dehydrogenase deficiency, Neurodevelopmental delay, Dihydropyrimidine dehydrogenase deficiency |