Hereditary Footpad Hyperkeratosis ( FNEPPK1, KRT16-related) – Dogue de Bordeaux
Kodas: H444
Short description
Hereditary Footpad Hyperkeratosis (HFH) is a skin disorder found in the Dogue de Bordeaux, causing severe and painful thickening and cracking of the paw pads.
General information
Hereditary Footpad Hyperkeratosis (HFH) is a skin disorder found in the Dogue de Bordeaux, causing severe and painful thickening and cracking of the paw pads. It is caused by a recessive mutation to the gene KRT16. It is also known as Focal Non-Epidermolytic Palmoplantar Keratoderma-1 (FNEPPK1).
Specifications
| Breeds | |
|---|---|
| Gene | KRT16 |
| Chromosome | 9 |
| Mutation | c.[1147_1148delinsCGGA;1165del] |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | FNEPPK1; HFH |
Clinical features
Onset of HFH (aka FNEPPK1) can occur anywhere between 10 weeks and 1 year of age. The main symptom is a painful thickening of the paw pads, as well as the formation of cracks and/or lumpy growths of keratin. The cracks pose a risk of infection, which can in turn cause lameness.
References
Pubmed ID: 25521457
Year published: 2015
Omia ID: 2088
Omia variant ID:
Turnaround information
- 10 working days