OMIA:001283-9685 : Xanthinuria, generic in Felis catus (domestic cat)

In other species: dog , giant otter , taurine cattle , goat

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 278300 (trait) , 603592 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

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).

Inheritance: Ptitchard et al. (2024) supected a recessive mode of inheritance in a Munchin family. 

Molecular basis: Ptitchard et al. (2024): "The candidate genetic variant affecting XDH proposed for case 1 (XDH p.A681V) [OMIAvariantID:1541, see OMIA:002445-9685 : Xanthinuria, type I in Felis catus (domestic cat) for details]  was excluded in the Munchkin family."

Breeds: European Shorthair (Cat) (VBO_0100094), Munchkin (Cat) (VBO_0100169).
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).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001283-9685: 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.
2015 Furman, E., Hooijberg, E.H., Leidinger, E., Zedinger, C., Giger, U., Leidinger, J. :
Hereditary xanthinuria and urolithiasis in a domestic shorthair cat. Comp Clin Path 24:1325-1329, 2015. Pubmed reference: 26478726. DOI: 10.1007/s00580-015-2072-5.
2013 Mestrinho, L.A., Gonçalves, T., Parreira, P.B., Niza, M.M., Hamaide, A.J. :
Xanthine urolithiasis causing bilateral ureteral obstruction in a 10-month-old cat. J Feline Med Surg 15:911-6, 2013. Pubmed reference: 23413269. DOI: 10.1177/1098612X13477413.
2009 Schweighauser, A., Howard, J., Malik, Y., Francey, T. :
Xanthinuria in a domestic shorthair cat. Vet Rec 164:91-2, 2009. Pubmed reference: 19151408. DOI: 10.1136/vr.164.3.91.
2007 Tsuchida, S., Kagi, A., Koyama, H., Tagawa, M. :
Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase. J Feline Med Surg 9:503-8, 2007. Pubmed reference: 17576085. DOI: 10.1016/j.jfms.2007.03.012.
1997 White, R.N., Tick, N.T., White, H.L. :
Naturally occurring xanthine urolithiasis in a domestic shorthair cat Journal of Small Animal Practice 38:299-301, 1997. Pubmed reference: 9239632.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Imke Tammen2 on 11 May 2024