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".

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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 (Dog) (VBO_0200704), Mastiff (Dog) (VBO_0200867), Scottish Deerhound (Dog) (VBO_0201195).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below