OMIA:001283-9913 : Xanthinuria, generic in Bos taurus (taurine cattle)
Categories: Renal / urinary system phene
Links to MONDO diseases: No links.
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 (OMIA002445) 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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
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.
|2010||Miranda, M., Rigueira, L., Suárez, M.L., Carbajales, P., Moure, P., Fidalgo, L.E., Failde, D., Vázquez, S. :|
|Xanthine nephrolithiasis in a galician blond beef calf. J Vet Med Sci 72:921-3, 2010. Pubmed reference: 20179384. DOI: 10.1292/jvms.09-0494.|
|1979||Hayashi, M., Ide, Y., Shoya, S., Enomoto, C., Mizoguchi, H. :|
|Observation of xanthinuria and xanthine calculosis in beef calves. Nihon Juigaku Zasshi 41:505-10, 1979. Pubmed reference: 513397. DOI: 10.1292/jvms1939.41.505.|
- Created by Imke Tammen2 on 02 Nov 2020
- Changed by Imke Tammen2 on 16 Oct 2023