Comparative

OMIA group 2445

Xanthinuria, type I

The chain reaches the human disease xanthinuria type I, which Mondo defines as: “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.”

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 2 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.73.

  5. Drugs

    Reached

    5 ChEMBL drugs, 4 approved. None has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

xanthinuria type I

60.2 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.73 25.7 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes One route found this disease 5.0 of 10
Species 2 naturally occurring species entries marked as a defect 7.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
dog Canis lupus familiaris OMIA:002445-9615 Yes
domestic cat Felis catus OMIA:002445-9685 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
dog XDH xanthine dehydrogenase NCBI Gene 483028 XDH Ensembl one to one
domestic cat XDH xanthine dehydrogenase NCBI Gene 493692 XDH Ensembl one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0010209 xanthinuria type I 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. OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene Human disease Score Evidence Kinds of evidence
XDH xanthinuria type I 0.73 499 Genetic association 0.84 Genetic literature 0.61 Animal model 0.45 Literature 0.39

Drugs

Drugs act on XDH, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Allopurinol XDH inhibitor Approved No
Bendazac XDH inhibitor Approved No
Febuxostat XDH inhibitor Approved No
Topiroxostat XDH inhibitor Approved No
Oxypurinol XDH inhibitor Phase 2/3 No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.