OMIA 001283-9913 : Xanthinuria, generic in Bos taurus

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

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

Mendelian trait/disorder: unknown

Considered a defect: unknown

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).


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.

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  • Created by Imke Tammen2 on 02 Nov 2020