OMIA:001283 : Xanthinuria, generic
Categories: Renal / urinary system phene
Links to MONDO diseases: No links.
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).
- Created by Frank Nicholas on 03 May 2005
- Changed by Frank Nicholas on 07 Jun 2013
- Changed by Imke Tammen2 on 13 Sep 2021
- Changed by Imke Tammen2 on 03 Oct 2021