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Hereditary Footpad Hyperkeratosis

Breed: Kromfohrländer

Generic Phene Data

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
GTPs
Antagene
Embark
Genomia s.r.o
Laboklin Gmbh & Co. KG
VetGen LLC
Wisdom Panel - Kinship
AnimaLabs

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unpublished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
Synonyms/Related Terms
Palmoplantar Hyperkeratosis
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
Inheritance
AR

HSP Test-Specific Data

Antagene

GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Palmoplantar Hyperkeratosis
Gene Name
FAM83G
Mutation
c.155G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Drógem?ller, M., Jagannathan, V., Becker, D., Drógem?ller, C., Schelling, C., Plassais, J., Kaerle, C., Dufaure de Citres, C., Thomas, A., M?ller, E.J., Welle, M.M., Roosje, P., Leeb, T.: A mutation i
Application in the Breed
Carriers may be bred to normal animals (N/hfh x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hfh x N/hfh) nor of affected animals (hfh/hfh). Thickening of the foot pad surface in affected dogs, first noticeable at 4-5 months of age.
Inheritance
AR
FCI Number
192
GTP Breed
Kromfohrländer

Embark

GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Palmoplantar Hyperkeratosis
Gene Name
FAM83G
Mutation
c.155G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Drógem?ller, M., Jagannathan, V., Becker, D., Drógem?ller, C., Schelling, C., Plassais, J., Kaerle, C., Dufaure de Citres, C., Thomas, A., M?ller, E.J., Welle, M.M., Roosje, P., Leeb, T.: A mutation i
Application in the Breed
Carriers may be bred to normal animals (N/hfh x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hfh x N/hfh) nor of affected animals (hfh/hfh). Thickening of the foot pad surface in affected dogs, first noticeable at 4-5 months of age.
Inheritance
AR
FCI Number
192
GTP Breed
Kromfohrländer

Genomia s.r.o

GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
HFH
Gene Name
FAM83G
Mutation
c.155G>C
Mutation Comment
g.41055619G>C

Laboklin Gmbh & Co. KG

GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Palmoplantar Hyperkeratosis
Gene Name
FAM83G
Mutation
c.155G>C
Nature of test
mutation test
FCI Number
192

VetGen LLC

GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
FAM83G
Mutation
c.155G>C

Wisdom Panel - Kinship

GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Palmoplantar Hyperkeratosis
Gene Name
FAM83G
Mutation
c.155G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Drógem?ller, M., Jagannathan, V., Becker, D., Drógem?ller, C., Schelling, C., Plassais, J., Kaerle, C., Dufaure de Citres, C., Thomas, A., M?ller, E.J., Welle, M.M., Roosje, P., Leeb, T.: A mutation i
Application in the Breed
Carriers may be bred to normal animals (N/hfh x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hfh x N/hfh) nor of affected animals (hfh/hfh). Thickening of the foot pad surface in affected dogs, first noticeable at 4-5 months of age.
Inheritance
AR
FCI Number
192
GTP Breed
Kromfohrländer

AnimaLabs

GTP
GTP Name
AnimaLabs
Breed
OMIA
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