ORPHA:1675
Dihydropyrimidine dehydrogenase deficiency
Also known as: Familial pyrimidinemia
Publications
655
87.2th percentile
Trials
4
Interventional, condition-specific
Researchers
1,307
Distinct authors in sample
Gene link
DPYD
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of pyrimidine metabolism characterized by a variable ranging from absence of symptoms to severe neurological involvement with , , and . Additional signs and symptoms may include , microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010130
- MeSH:D054067
- OMIM:274270
- UMLS:C1959620
- NCIT:C84672
Additional Mondo synonyms (6)
DYPD deficiency · dihydropyrimidine dehydrogenase deficiency · dihydrouracil dehydrogenase deficiency · familial pyrimidinaemia · familial pyrimidinemia · thymine-uracilurea
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — DPYD
- LiteraturePresent
655 matched papers (366 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
4 matched on ClinicalTrials.gov (2 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (DPYD).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
655
655 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
655 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
366 in the last 10 years · high confidence · 87.2th percentile (publications denominator)
Phrase hits: 655 · MeSH hits: 0
Who's working on it?
1,307
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Thomas F15 papers · 2025
Department of Pharmacology. Institut Claudius-Regaud. CRCT, Université de Toulouse. Inserm. UPS, 20-24 Rue du Pont Saint-Pierre, 31300, Toulouse, France.
Papers in Europe PMC - 02Loriot MA11 papers · 2026
Department of Clinical Chemistry, Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, University of Paris, Paris, France.
Papers in Europe PMC - 03Ciccolini J10 papers · 2025
SMARTc Unit, Inserm S-911 La Timone University Hospital of Marseille and Aix Marseille Universite, Marseille, France.
Papers in Europe PMC - 04Etienne-Grimaldi MC8 papers · 2024
Oncopharmacology laboratory, Centre Antoine Lacassagne, Nice, France. Electronic address: marie-christine.etienne@nice.unicancer.fr.
Papers in Europe PMC - 05Narjoz C8 papers · 2026
Department of Clinical Chemistry, Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, University of Paris, Paris, France.
Papers in Europe PMC - 06Haufroid V7 papers · 2024
Department of Toxicology and Applied Pharmacology, University Hospital St Luc/UCLouvain, Woluwe.
Papers in Europe PMC - 07Launay M7 papers · 2024
Laboratory of Pharmacology and Toxicology, University Hospital Center of Saint-Etienne, Saint-Etienne Cedex 02, France.
Papers in Europe PMC - 08Royer B7 papers · 2024
Department of Clinical Pharmacology, CHU Jean Minjoz, Besançon, France.
Papers in Europe PMC - 09Pallet N6 papers · 2024
Department of Clinical Chemistry, Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, University of Paris, Paris, France. nicolas.pallet@aphp.fr.
Papers in Europe PMC - 10van Kuilenburg ABP6 papers · 2026
Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry, Genetics and Pediatrics, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
high confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06245356·RECRUITING·Safety of Trifluridine/Tipiracil in Patients With Dihydropyrimidine Dehydrogenase Deficiency Diagnosed With Metastatic Colorectal or Gastroesophageal Cancer
Conditions: Metastatic Colorectal Cancer · Metastatic Gastroesophageal Adenocarcinoma · DPD Deficiency·Matched via name phrase
- NCT07158164·RECRUITING·DPYD Pharmacogenomics and Fluoropyrimidine (FP) Dose-Adjustment
Conditions: Colorectal Neoplasms · Breast Neoplasms · Head and Neck Neoplasms · Gastro-Intestinal Intraepithelial Neoplasia·Matched via name phrase
Observational and natural-history studies
4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Dihydropyrimidine dehydrogenase deficiency" OR "Familial pyrimidinemia" OR "DYPD deficiency" OR "dihydrouracil dehydrogenase deficiency" OR "familial pyrimidinaemia" OR "thymine-uracilurea"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dihydropyrimidine dehydrogenase deficiency" OR "Familial pyrimidinemia" OR "DYPD deficiency" OR "dihydrouracil dehydrogenase deficiency" OR "familial pyrimidinaemia" OR "thymine-uracilurea" OR "DPYD"
Recall-expansion terms: DPYD
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T17:57:11.428Z