ORPHA:93601
Xanthinuria type I
Also known as: XDH deficiency · XO deficiency · XOR deficiency · Xanthine dehydrogenase deficiency · Xanthine oxidase deficiency · Xanthine oxidoreductase deficiency
Publications
607
86.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,233
Distinct authors in sample
Gene link
XDH
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Type I xanthinuria, a type of classical xanthinuria, is a rare disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, and duodenal ulcer.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010209
- MeSH:C562584
- OMIM:278300
- UMLS:C0268118
Additional Mondo synonyms (6)
XAN1 · isolated xanthine oxidase deficiency · xanthinuria type 1 · xanthinuria type I · xanthinuria, type 1 · xanthinuria, type I
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 — XDH
- LiteraturePresent
607 matched papers (343 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 (XDH).
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?
607
607 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.
607 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).
343 in the last 10 years · medium confidence · 86.4th percentile (publications denominator)
Phrase hits: 607 · MeSH hits: 3
Who's working on it?
1,233
Distinct author names in 200 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.
- 01Ichida K17 papers · 2026
Second Department of Internal Medicine, the Jikei University School of Medicine, Tokyo.
Papers in Europe PMC - 02Hosoya T6 papers · 2022
Department of Human Physiology and Pathology, Faculty of Pharma-Science, Teikyo University, Tokyo, Japan.
Papers in Europe PMC - 03Nishino T6 papers · 2024
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
Papers in Europe PMC - 04Stiburkova B5 papers · 2025
Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. stiburkova@revma.cz.
Papers in Europe PMC - 05Dionisi-Vici C4 papers · 2025
Metabolic Unit, Department of Pediatric Specialties, Bambino Gesù Children's Research Hospital, Rome, Italy.
Papers in Europe PMC - 06Hosoyamada M4 papers · 2026
Department of Human Physiology and Pathology, Faculty of Pharma-Science, Teikyo University, Tokyo, Japan.
Papers in Europe PMC - 07Krijt J4 papers · 2025
Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
Papers in Europe PMC - 08Okamoto K4 papers · 2024
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
Papers in Europe PMC - 09Romero MF4 papers · 2021
Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.
Papers in Europe PMC - 10Wang X4 papers · 2025
College of Animal Science & Veterinary Medicine, Shenyang Agricultural University, Shenyang 110866, China.
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.
Broader category xanthinuria also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: xanthinuria
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Xanthinuria type I" OR "XDH deficiency" OR "XO deficiency" OR "XOR deficiency" OR "Xanthine dehydrogenase deficiency" OR "Xanthine oxidase deficiency" OR "Xanthine oxidoreductase deficiency" OR "isolated xanthine oxidase deficiency" OR "xanthinuria type 1" OR "xanthinuria, type 1" OR "xanthinuria, type I"
MeSH descriptor terms unioned into the query: Xanthinuria, Type I
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Xanthinuria type I" OR "XDH deficiency" OR "XO deficiency" OR "XOR deficiency" OR "Xanthine dehydrogenase deficiency" OR "Xanthine oxidase deficiency" OR "Xanthine oxidoreductase deficiency" OR "isolated xanthine oxidase deficiency" OR "xanthinuria type 1" OR "xanthinuria, type 1" OR "xanthinuria, type I" OR "XDH" OR "hereditary xanthinuria"
Recall-expansion terms: XDH, hereditary xanthinuria
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"xanthinuria"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XAN1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:27:24.975Z