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dihydropyrimidine dehydrogenase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dihydropyrimidine dehydrogenase deficiency

MONDO:0010130

Also known as:DYPD deficiencydihydrouracil dehydrogenase deficiencyfamilial pyrimidinaemia

Find Clinical TrialsTrials

Overview

Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.

GeneticsAutosomal recessive · DPYD (chr 1)

Clinical Trials3 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Seizure and Intellectual disability; and sometimes findings: Agenesis of corpus callosum, Autism, Microcephaly, and Delayed speech and language development and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Seizure, Intellectual disability, Brain shrinkage (cerebral atrophy)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DPYD encodes dihydropyrimidine dehydrogenase (1,025 aa). Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil Highest expression in Cells Cultured fibroblasts (43.0 TPM) and Lung (29.6 TPM).

Dihydropyrimidine dehydrogenase deficiency is associated with mutations in the DPYD gene on chromosome 1.

DPYD is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 1.9.

Diagnosis

Genetic testing for DPYD is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for dihydropyrimidine dehydrogenase deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE2, 1 NA. Research is primarily sponsored by academic and government institutions.

45 publications have been identified in PubMed for dihydropyrimidine dehydrogenase deficiency. Research spans Case Report / Case Series (27%), Clinical Trial Publication (16%), and Epidemiology / Natural History (16%).

Research Type	Count	% of Total
Patient case studies	12

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:274270

Orphanet

European rare disease database

Orphanet:1675

GARD

Genetic and Rare Diseases Info Center

GARD:19

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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dihydropyrimidine dehydrogenase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

dihydropyrimidine dehydrogenase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications