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.
References
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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2013
- Changed by Frank Nicholas on 06 Sep 2013