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OMIA:001283-9913 : Xanthinuria, generic in Bos taurus (taurine cattle)

In other species: dog , giant otter , domestic cat , goat

Categories: Renal / urinary system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 278300 (trait) , 603592 (trait)

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).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001283-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

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.

Edit History


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