OMIA:002266-9615 : Hyperkeratosis, palmoplantar, DSG1-related in Canis lupus familiaris (dog)

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 148700 (trait) , 615508 (trait) , 125670 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Species-specific name: Hereditary footpad hyperkeratosis (HFH)

Molecular basis: Backel et al. (2020) "sequenced the genome of the affected dog and compared the data to 655 control genomes. A search for variants in 32 candidate genes associated with human palmoplantar keratoderma (PPK) revealed a single private protein-changing variant in the affected dog. This was located in the DSG1 gene encoding desmoglein 1. . . . The identified canine variant, DSG1:c.2541_2545delGGGCT, leads to a frameshift and truncates about 20% of the coding sequence. The affected dog was homozygous for the mutant allele."

Clinical features: Backel et al. (2020): "A single male Rottweiler dog with severe footpad hyperkeratosis starting at an age of eight weeks was investigated. The hyperkeratosis was initially restricted to the footpads. The footpad lesions caused severe discomfort to the dog and had to be trimmed under anesthesia every 8-10 weeks. Histologically, the epidermis showed papillated villous projections of dense keratin in the stratum corneum. Starting at eight months of age, the patient additionally developed signs consistent with atopic dermatitis and recurrent bacterial skin and ear infections. Crusted hyperkeratotic plaques developed at sites of infection."

Breed: Rottweiler (Dog) (VBO_0201143).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DSG1 desmoglein 1 Canis lupus familiaris 7 NC_051811.1 (58179775..58144506) DSG1 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1194 Rottweiler (Dog) Hyperkeratosis, palmoplantar, DSG1-related DSG1 deletion, small (<=20) Naturally occurring variant CanFam3.1 7 g.58163636_58163640del c.2541_2545del p.(G848Wfs*2) NM_001002939.1; NP_001002939.1; published as c.2541_2545delGGGCT 2020 32344723

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002266-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2020 Backel, K.A., Kiener, S., Jagannathan, V., Casal, M.L., Leeb, T., Mauldin, E.A. :
A DSG1 frameshift variant in a Rottweiler dog with footpad hyperkeratosis. Genes (Basel) 11:469, 2020. Pubmed reference: 32344723. DOI: 10.3390/genes11040469.

Edit History

  • Created by Frank Nicholas on 14 May 2020
  • Changed by Frank Nicholas on 14 May 2020