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Hereditary Footpad Hyperkeratosis
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Hereditary Footpad Hyperkeratosis
OMIA
1327
Gene Name
FAM83G
Gene Name 2
KRT16
Mutation
c.155G>C
Mutation 2
unpublished
Test Type
Genetic Disease/Disorder
Details
Hereditary footpad hyperkeratosis (HFH), sometimes described as ?corny feet? initially leads to thickened and hardened footpads. Age of onset from 18 to 24 weeks. The hardened and thickened pad surface later develops cracks and fissures, which can cause secondary infections. Untreated, HFH can lead to considerable pain and lameness in affected dogs.
Details 2
Epidermolytic palmoplantar keratoderma (EPPK) is an inherited disorder characterized by abnormal thickening of the palmoplantar epidermis... Hereditary footpad hyperkeratosis (HFH, also known as digital hyperkeratosis (DH) or ?corny feet?) is a specific form of an orthokeratotic palmoplantar hyperkeratosis... HFH initially leads to thickened and hardened footpads, which can be recognized in juvenile dogs starting at an age of 18 to 24 weeks. The inelastic pad surface subsequently develops cracks and fissures, which predispose affected dogs to secondary infections. If not properly managed, HFH can thus lead to considerable pain and lameness in affected dogs. (From Drogemuller et al, 2014)
Published
Drogemuller, M., Jagannathan, V., Becker, D., Drogemuller, C., Schelling, C., Plassais, J., Kaerle, C., Dufaure de Citres, C., Thomas, A., Muller, E.J., Welle, M.M., Roosje, P., Leeb, T. : A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH). PLoS Genet 10:e1004370, 2014. Pubmed reference: 24832243. DOI: 10.1371/journal.pgen.1004370.
Published 2
Sayyab, S., Viluma, A., Bergvall, K., Brunberg, E., Jagannathan, V., Leeb, T., Andersson, G., Bergstrom, T.F. : Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. G3 (Bethesda) :, 2016. Pubmed reference: 26747202. DOI: 10.1534/g3.115.025643.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
