ORPHA:38874
Dihydropyrimidinuria
Also known as: Dihydropyrimidinase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
84
50.1th percentile
Trials
0
Interventional, condition-specific
Researchers
521
Distinct authors in sample
Gene link
DPYS
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), , intellectual deficit, , and less frequently growth retardation, , microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009111
- OMIM:222748
- UMLS:C0342803
Additional Mondo synonyms (2)
dihydropyrimidinase deficiency · dihydropyrimidinuria
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — DPYS
- LiteraturePresent
84 matched papers (41 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (DPYS).
GenCC classification: Strong.
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?
84
84 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
84 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).
41 in the last 10 years · medium confidence · 50.1th percentile (publications denominator)
Phrase hits: 84 · MeSH hits: 0
Who's working on it?
521
Distinct author names in 84 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01van Kuilenburg AB12 papers · 2016
Academic Medical Center, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.
Papers in Europe PMC - 02Wada Y10 papers · 2003Papers in Europe PMC
- 03Sumi S9 papers · 2003
Department of Pediatrics, Nagoya City Child Welfare Center, Japan.
Papers in Europe PMC - 04van Gennip AH9 papers · 2004
University of Amsterdam, Department of Clinical Chemistry, Emma Children's Hospital, The Netherlands.
Papers in Europe PMC - 05Kidouchi K8 papers · 2000Papers in Europe PMC
- 06Duran M6 papers · 2010
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Nieuwe Gracht, Utrecht, The Netherlands.
Papers in Europe PMC - 07Ohba S6 papers · 2000
Department of Pediatrics, Nagoya City Univ. Med. Sch., Japan.
Papers in Europe PMC - 08Meinsma R5 papers · 2017
Academic Medical Center, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, 1105, AZ, Amsterdam, The Netherlands.
Papers in Europe PMC - 09Dobritzsch D4 papers · 2017
Department of Chemistry-BMC, Uppsala University, Uppsala 75123, Sweden. doreen.dobritzsch@kemi.uu.se.
Papers in Europe PMC - 10Imaeda M4 papers · 2000
Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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.
"Dihydropyrimidinuria" OR "Dihydropyrimidinase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Dihydropyrimidinuria" OR "Dihydropyrimidinase deficiency" OR "DPYS"
Recall-expansion terms: DPYS
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T00:00:00.787Z