OMIA:001283-9672 : Xanthinuria, generic in Pteronura brasiliensis (giant otter)

In other species: dog , domestic cat , 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).

Species-specific name: Xanthine nephrolithiasis

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001283-9672: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2020 Fan, Z., Liao, F., Shi, H., Liu, Y., Dang, Q., Shao, M., Kang, Z., Barratclough, A., Ardente, A.J., Boren, B., Ialeggio, D., Garner, M.M. :
Xanthine nephrolithiasis in juvenile captive giant otters (Pteronura brasiliensis). J Zoo Wildl Med 50:956-965, 2020. Pubmed reference: 31926528. DOI: 10.1638/2019-0036.

Edit History

  • Created by Imke Tammen2 on 02 Nov 2020
  • Changed by Imke Tammen2 on 16 Oct 2023