ORPHA:3467
Hereditary xanthinuria
Also known as: Classic xanthinuria · Xanthic urolithiasis · Xanthine stone disease
Publications
149
53.2th percentile
Trials
0
Interventional, condition-specific
Researchers
808
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
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:0018106
- UMLS:C5779508
Additional Mondo synonyms (4)
classic xanthinuria · hereditary xanthinuria · xanthic urolithiasis · xanthine stone disease
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
149 matched papers (74 in last 10 years) Source
- Phenotype characterisedPresent
39 HPO annotations (e.g. Aldehyde oxidase deficiency; Reduced xanthine dehydrogenase level; Crystalluria) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
39
Associated phenotypes · MONDO:0018106
- Aldehyde oxidase deficiency
- Reduced xanthine dehydrogenase level
- Crystalluria
- Recurrent urinary tract infections
- Myalgia
Showing 5 of 39 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Mocosem2(IMPC)Ics/Mocosem2(IMPC)Ics [background:] involves: C57BL/6N·MGI:7495807·Mus musculus
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?
149
149 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=3967) is 59.
149 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).
74 in the last 10 years · high confidence · 53.2th percentile (publications denominator)
Phrase hits: 149 · MeSH hits: 0
Who's working on it?
808
Distinct author names in 149 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 K10 papers · 2022
Second Department of Medicine, The Jikei University School of Medicine, Tokyo 105.
Papers in Europe PMC - 02Stiburkova B8 papers · 2022
Institute of Rheumatology, 128 00 Prague, Czech Republic.
Papers in Europe PMC - 03Fairbanks L5 papers · 2024
Purine Research Laboratory, Viapath, St Thomas' Hospital, London, UK.
Papers in Europe PMC - 04Kawachi M5 papers · 1990
Second Department of Internal Medicine, Osaka University Medical School.
Papers in Europe PMC - 05Kono N5 papers · 1990Papers in Europe PMC
- 06Sebesta I4 papers · 2022
Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague, Czech Republic.
Papers in Europe PMC - 07Dissanayake LV3 papers · 2024
Department of Molecular Pharmacology & Physiology, Morsani College of Medicine, University of South Florida, 560 Channelside Dr., Tampa, FL 33602, USA.
Papers in Europe PMC - 08Fox IH3 papers · 1989Papers in Europe PMC
- 09Furrow E3 papers · 2021
University of Minnesota College of Veterinary Medicine, Department of Veterinary Clinical Sciences, St Paul, MN, USA.
Papers in Europe PMC - 10Hosoya T3 papers · 1998Papers 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
high 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.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29
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).
Uncertain / not reviewed (1)
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 Hereditary xanthinuria — check Associations / patient organisations on that page.
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.
"Hereditary xanthinuria" OR "Classic xanthinuria" OR "Xanthic urolithiasis" OR "Xanthine stone disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary xanthinuria" OR "Classic xanthinuria" OR "Xanthic urolithiasis" OR "Xanthine stone disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"xanthinuria"
Query health: ok — strategies attempted: phrase; with hits: phrase
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 2026-07-26T23:17:31.539Z