OMIA 001283-9672 : Xanthinuria, generic in Pteronura brasiliensis

In other species: dog , domestic cat , cattle , goat

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).

Species-specific name: Xanthine nephrolithiasis


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.

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  • Created by Imke Tammen2 on 02 Nov 2020