Hereditary Footpad Hyperkeratosis (FAM83G-related)
Kodas: H492
Short description
Hereditary Footpad Hyperkeratosis (HFH) is a skin disorder of the footpads, which causes the development of thick, painful, callus-like growths.
General information
Hereditary Footpad Hyperkeratosis (HFH) is a skin disorder of the footpads, which causes the development of thick, painful, callus-like growths. This variant of the disease, known as Palmoplantar Hyperkeratosis or Digital Hyperkeratosis (DH), is found in the Irish Terrier and Kromfohrländer. It is caused by a recessive mutation to the gene FAM83G.
Specifications
| Breeds | |
|---|---|
| Gene | FAM83G |
| Chromosome | 5 |
| Mutation | c.155G>C |
| Organ | Integumentary System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | HFH; DH |
Clinical features
HFH initially leads to thickened and hardened footpads. It involves all footpads and is noticed at 4–5 months of age. Subsequently, the inelastic pad surface develops cracks and fissures, which predispose affected dogs to secondary infections. The nails of affected dogs are very hard and seem to grow faster. Affected animals avoid walking on irregular surfaces and if not properly managed, HFH can lead to considerable pain and lameness.
References
Pubmed ID: 24832243
Year published: 2014
Omia ID: 1327
Omia variant ID:
Turnaround information
- 10 working days