Fanconi syndrome – FS
Kodas: H863
Short description
Fanconi Syndrome (FS) is a potentially severe kidney disorder that can cause dehydration, weight loss, and ultimately kidney failure.
General information
Fanconi Syndrome (FS) is a potentially severe kidney disorder that can cause dehydration, weight loss, and ultimately kidney failure. In dogs, the disease occurs in the Basenji, where it is caused by a recessive mutation to the gene FAN1.
Specifications
| Breeds | |
|---|---|
| Gene | FAN1 |
| Chromosome | 3 |
| Mutation | c.2954_3090+181del |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
Clinical features
Symptoms for affected dogs can vary in severity, from a total lack of apparent symptoms to major kidney-related defects. Severely affected dogs present with thirst, excessive urine production, glucosuria, dehydration and weight loss, which can progress to kidney failure. Age of onset can be anywhere between young adulthood to nine years old.
References
Pubmed ID: PhD thesis University of Missouri
Year published: 2011
Omia ID: 2683
Omia variant ID:
Turnaround information
- 10 working days