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ORPHA:93601

Xanthinuria type I

medium confidenceSubtype of disorder

Also known as: XDH deficiency · XO deficiency · XOR deficiency · Xanthine dehydrogenase deficiency · Xanthine oxidase deficiency · Xanthine oxidoreductase deficiency

Publications

616

79th percentile

Trials

0

Interventional, condition-specific

Researchers

1,233

Distinct authors in sample

Gene link

XDH

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — XDH

  2. LiteraturePresent

    616 matched papers (352 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Impaired renal uric acid clearance; Xanthine nephrolithiasis; Hyperxanthinemia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

10

Associated phenotypes · MONDO:0010209

  • Impaired renal uric acid clearance
  • Xanthine nephrolithiasis
  • Hyperxanthinemia
  • Hypouricemia
  • Xanthinuria

Showing 5 of 10 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

616

616 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=3967) is 59.

616 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

352 in the last 10 years · medium confidence · 79th percentile (publications denominator)

Phrase hits: 607 · MeSH hits: 3

Open Europe PMC search

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.

  1. 01
    Ichida K17 papers · 2026

    Second Department of Internal Medicine, the Jikei University School of Medicine, Tokyo.

    Papers in Europe PMC
  2. 02
    Hosoya T6 papers · 2022

    Department of Human Physiology and Pathology, Faculty of Pharma-Science, Teikyo University, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Nishino T6 papers · 2024

    Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Stiburkova 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
  5. 05
    Dionisi-Vici C4 papers · 2025

    Metabolic Unit, Department of Pediatric Specialties, Bambino Gesù Children's Research Hospital, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Hosoyamada M4 papers · 2026

    Department of Human Physiology and Pathology, Faculty of Pharma-Science, Teikyo University, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Krijt 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
  8. 08
    Okamoto K4 papers · 2024

    Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Romero MF4 papers · 2021

    Department of Physiology and Biomedical Engineering, Mayo Clinic College of Medicine and Science, Rochester, Minnesota.

    Papers in Europe PMC
  10. 10
    Wang 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Xanthinuria type I — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Xanthinuria, Type I") OR ("XDH syndrome" OR "XDH-related")

Run this search on Europe PMC

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"

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; 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