Xanthinuria, type 2 – Spaniel variant
Kodas: H966
Short description
Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications.
General information
Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications. Type II xanthinuria is caused by a recessive mutation to the gene MOCOS. The variant of the disorder analysed in this test is found in the Cavalier King Charles Spaniel and English Cocker Spaniel. Related variants are also found in the Dachshund and Manchester Terrier.
Specifications
| Breeds | |
|---|---|
| Gene | MOCOS |
| Chromosome | 7 |
| Mutation | c.383delC |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Symptoms of xanthine urinary stones can include straining to urinate, frequent urination, bloody urine and in advanced cases life-threatening urinary tract obstruction. The disease can present anywhere between several months and several years of age.
References
Pubmed ID: 34584846
Year published: 2021
Omia ID: 1819
Omia variant ID:
Turnaround information
- 10 working days