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xanthinuria type I - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

xanthinuria type I

MONDO:0010209

Also known as:XDH deficiencyXO deficiencyXOR deficiency

Find Clinical TrialsTrials

Overview

A rare autosomal recessive 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, myopathy and duodenal ulcer.

GeneticsAutosomal recessive · XDH (chr 2)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Impaired renal uric acid clearance, Hyperxanthinemia, Hypouricemia, and Reduced circulating xanthine oxidase activity. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Impaired renal uric acid clearance, Xanthine nephrolithiasis

Genetic Landscape

XDH function has not been fully characterized.

Xanthinuria type I is associated with mutations in the XDH gene on chromosome 2.

Diagnosis

Genetic testing for XDH is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

41 publications have been identified in PubMed for xanthinuria type I. Kisho has analyzed 17 by research type. Research spans Basic Science / Preclinical (47%), Review / Meta-Analysis (29%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	8

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:278300

Orphanet

European rare disease database

Orphanet:93601

GARD

Genetic and Rare Diseases Info Center

GARD:5621

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

xanthinuria type I

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

xanthinuria type I

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications