OMIA:001283-9672 : Xanthinuria, generic in Pteronura brasiliensis (giant otter) |
In other species: dog , domestic cat , taurine cattle , 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).
Species-specific name: Xanthine nephrolithiasis
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:001283-9672: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 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