Dihydropyrimidine dehydrogenase deficiency: genes and variants
Dihydropyrimidine dehydrogenase deficiency is linked to 1 analyzed protein (DPYD). 7 DNA variants are known to cause it; 59 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dihydropyrimidine dehydrogenase deficiency
DPYD: Dihydropyrimidine dehydrogenase [NADP(+)]
It performs the rate-limiting catabolic step for uracil and thymine and clears most administered fluoropyrimidine drug. Reduced activity can cause dihydropyrimidine dehydrogenase deficiency and markedly increases the risk of severe 5-fluorouracil or capecitabine toxicity.
7 disease-causing and 59 uncertain variants in DPYD are linked to Dihydropyrimidine dehydrogenase deficiency.
Known disease-causing variants in Dihydropyrimidine dehydrogenase deficiency
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DPYD S201R | 201 | Disease-causing (★★) | |
| DPYD S492L | 492 | Disease-causing (★★) | |
| DPYD M1I | 1 | Disease-causing (★★) | |
| DPYD P86L | 86 | 4Fe-4S ferredoxin-type 1 | Disease-causing (★★) |
| DPYD R235Q | 235 | Disease-causing (★) | |
| DPYD I948T | 948 | 4Fe-4S ferredoxin-type 2 | Disease-causing (★) |
| DPYD M1L | 1 | Disease-causing (★) |
Diseases related to Dihydropyrimidine dehydrogenase deficiency
- Gastric cancer, also linked to DPYD
Frequently asked questions
Which genes are linked to Dihydropyrimidine dehydrogenase deficiency?
In CATVariant, Dihydropyrimidine dehydrogenase deficiency is linked to 1 analyzed protein: DPYD (Dihydropyrimidine dehydrogenase [NADP(+)]).
How many genetic variants are linked to Dihydropyrimidine dehydrogenase deficiency?
122 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 59 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dihydropyrimidine dehydrogenase deficiency look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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