ORPHA:93602
Xanthinuria type II
Also known as: XDH and AOX dual deficiency · Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Publications
397
80.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,255
Distinct authors in sample
Gene link
MOCOS
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Type II xanthinuria, a type of classical xanthinuria, is a rare disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, and duodenal ulcer, while some patients remain asymptomatic.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011346
- MeSH:C566358
- OMIM:603592
- UMLS:C1863688
Additional Mondo synonyms (3)
XAN2 · xanthine dehydrogenase and aldehyde oxidase, combined deficiency of · xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
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
Definitive — MOCOS
- LiteraturePresent
397 matched papers (229 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 (MOCOS).
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?
397
397 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.
397 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).
229 in the last 10 years · medium confidence · 80.7th percentile (publications denominator)
Phrase hits: 397 · MeSH hits: 1
Who's working on it?
1,255
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.
- 01Schwarz G12 papers · 2025
Institute of Biochemistry, Department of Chemistry, University of Cologne, Cologne, Germany.
Papers in Europe PMC - 02Ichida K9 papers · 2022
Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Tokyo 192-0392, Japan.
Papers in Europe PMC - 03Santamaria-Araujo JA6 papers · 2024
Orphatec/Colbourne Pharmaceuticals, Niederkassel, Germany.
Papers in Europe PMC - 04Schwahn BC6 papers · 2025
Royal Hospital for Sick Children, NHS Greater Glasgow and Clyde, Glasgow, UK; Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. Electronic address: bernd.schwahn@cmft.nhs.uk.
Papers in Europe PMC - 05Reiss J5 papers · 2019
Institut für Humangenetik, Universitätsmedizin Göttingen, Germany. jreiss@gwdg.de
Papers in Europe PMC - 06Wang X5 papers · 2026
Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Papers in Europe PMC - 07Clayton PT3 papers · 2025
Genetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, London, UK.
Papers in Europe PMC - 08Ding Y3 papers · 2025
Rady Children's Institute for Genomic Medicine, San Diego, California 92123, USA.
Papers in Europe PMC - 09Feigenbaum A3 papers · 2024
Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA.
Papers in Europe PMC - 10Hoffmann GF3 papers · 2026
Pediatric Neurology and Center for Rare Disorders, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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 II" OR "XDH and AOX dual deficiency" OR "Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" OR "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of"
MeSH descriptor terms unioned into the query: Xanthinuria, Type II
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Xanthinuria type II" OR "XDH and AOX dual deficiency" OR "Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency" OR "xanthine dehydrogenase and aldehyde oxidase, combined deficiency of" OR "Xanthinuria, Type II" OR "MOCOS" OR "hereditary xanthinuria"
Recall-expansion terms: MOCOS, hereditary xanthinuria
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, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XAN2
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 2026-07-27T04:27:37.182Z