OMIA:002445-9685 : Xanthinuria, type I in Felis catus (domestic cat)

In other species: dog

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607633 (gene) , 278300 (trait)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: Animals with hereditary xanthinuria (excretion of large amounts of xanthine in the urine) may be asymptomatic, may have subclinical uroliths (xanthine stones), or present with clinical signs of urolithiasis. Urolith formation can be influenced by other biologic and environmental factors such as sex, diet and urine properties. Xanthinuria, type I (OMIA:002445) is caused by variation in the XDH gene and xanthinuria, type II (OMIA:001819) is caused by variation in the MOCOS gene. Information relating to xanthinuria without identified causal variants is listed under xanthinuria, generic (OMIA:001283).

Species-specific name: XDH deficiency; xanthine uroliths; urolithiasis

Species-specific description: Pritchard et al. (2023): "DNA was extracted from EDTA-stabilised blood obtained from a Domestic Shorthair cat with clinically confirmed xanthinuria. Whole-genome sequencing and variant assessment in XDH and MOCOS identified XDH:c.2042C>T (XDH:p.(A681V)) as a candidate causative variant for xanthinuria in this cat. ... When assessed in the wider cat population, the variant had an allele frequency of 15.8%, with 0.9% of the animals assessed homozygous for the alternative allele. Cats diagnosed with xanthinuria should be tested for this variant to validate its clinical relevance in the wider population."

Clinical features: Pritchard et al. (2023) report "an 8-month-old male neutered Domestic Shorthair cat. The cat presented clinically with pollakiuria and dysuria. Voided urinalysis identified marked crystalluria and multiple small uroliths. Ultrasound identified bilateral nephroliths and xanthinuria was confirmed by infrared spectrometry ... ."

Breed: Domestic Shorthair.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
XDH xanthine dehydrogenase Felis catus A3 NC_058370.1 (114827572..114884753) XDH Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1541 Domestic Shorthair Xanthinuria, type 1 XDH missense Naturally occurring variant Felis_catus_9.0 A3 g.114863284C>T c.2042C>T p.(A681V) 2023 36970934

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002445-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Pritchard, E.C., Haase, B., Wall, M.J., O'Brien, C.R., Gowan, R., Mizzi, K., Kicinski, A., Podadera, J., Boland, L.A. :
Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat. J Feline Med Surg 26:1098612X241241408, 2024. Pubmed reference: 38717789. DOI: 10.1177/1098612X241241408.
2023 Pritchard, E., Samaha, G., Mizzi, K., Boland, L. :
Candidate causative variant for xanthinuria in a Domestic Shorthair cat. Anim Genet 54:576-580, 2023. Pubmed reference: 36970934. DOI: 10.1111/age.13318.

Edit History

  • Created by Imke Tammen2 on 28 Mar 2023
  • Changed by Imke Tammen2 on 28 Mar 2023
  • Changed by Imke Tammen2 on 05 Jun 2023