OMIA 001881-9615 : Cystinuria, type III in Canis lupus familiaris
Mendelian trait/disorder: yes Considered a defect: yes Key variant known: no Cross-species summary: This entry has been created in line with the new expanded classification system for canine cystinuria suggested by Brons et al. (2013): "type I cystinuria when the disease shows autosomal recessive inheritance, type II when it shows autosomal dominant inheritance, and type III for sex-limited inheritance. . . . Involvement of the SLC3A1 gene is indicated by adding A, and similarly B indicates mutations in SLC7A9". Clinical features: As summarised by Brons et al. (2013) cystinuria type III is characterised by: present only in males; androgen-dependent; COLA [μmol/g creatinine (normal ≤500)] ≤4,000 in homozygotes. Breeds: Irish Terrier, Mastiff, Scottish Deerhound.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2013||Brons, A.K., Henthorn, P.S., Raj, K., Fitzgerald, C.A., Liu, J., Sewell, A.C., Giger, U. :|
|SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system. J Vet Intern Med 27:1400-8, 2013. Pubmed reference: 24001348. DOI: 10.1111/jvim.12176.|
|1999||Osborne, C.A., Sanderson, S.L., Lulich, J.P., Bartges, J.W., Ulrich, L.K., Koehler, L.A., Bird, K.A., Swanson, L.L. :|
|Canine cystine urolithiasis. Cause, detection, treatment, and prevention. Vet Clin North Am Small Anim Pract 29:193-211, xiii, 1999. Pubmed reference: 10028158.|
- Created by Frank Nicholas on 06 Sep 2013
- Changed by Frank Nicholas on 06 Sep 2013