OMIA:001881-9615 : Cystinuria, type III in Canis lupus familiaris
Categories: Renal / urinary system phene
Links to MONDO diseases: No links.
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.
|2021||Kovaříková, S., Maršálek, P., Vrbová, K. :|
|Cystinuria in dogs and cats: What do we know after almost 200 years? Animals (Basel) 11:2437, 2021. Pubmed reference: 34438894 . DOI: 10.3390/ani11082437.|
|2015||Bartges, J.W., Callens, A.J. :|
|Urolithiasis. Vet Clin North Am Small Anim Pract 45:747-68, 2015. Pubmed reference: 26002797 . DOI: 10.1016/j.cvsm.2015.03.001.|
|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 . DOI: 10.1016/s0195-5616(99)50011-9.|
- Created by Frank Nicholas on 06 Sep 2013
- Changed by Frank Nicholas on 06 Sep 2013