OMIA:002445 : Xanthinuria, type I

Categories: Renal / urinary system phene

Possible human homologues (MIM numbers): 607633 (gene) , 278300 (trait)

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).

Species in which this phene is found:
dog (Canis lupus familiaris)
domestic cat (Felis catus)

Edit History


  • Created by Imke Tammen2 on 03 Oct 2021
  • Changed by Imke Tammen2 on 03 Oct 2021
  • Changed by Imke Tammen2 on 28 Mar 2023