OMIA 001283-9925 : Xanthinuria, generic in Capra hircus

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 278300

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Vail et al. (2019) provided "the first report describing the clinical presentation and pathology associated with xanthine urolithiasis in a goat." The authors concluded that "The data support hereditary xanthinuria, but functional studies are needed to conclusively determine the causal variant(s)."

Reference


2019 Vail, K.J., Tate, N.M., Likavec, T., Minor, K.M., Gibbons, P.M., Rech, R.R., Furrow, E. :
Hereditary xanthinuria in a goat. J Vet Intern Med :, 2019. Pubmed reference: 30758870. DOI: 10.1111/jvim.15431.

Edit History


  • Created by Frank Nicholas on 27 Feb 2019
  • Changed by Frank Nicholas on 27 Feb 2019