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OMIA:002924-9796 : Anhidrosis, generic in Equus caballus (horse)

Categories: Integument (skin) phene

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: unknown

Disease-related: yes

Mapping: Patterson Rosa et al. (2021) "performed a case-control (n = 200) GWAS targeting cases of chronic idiopathic anhidrosis in a controlled genetic background to discover the contributing regions and interrogated gene function for roles in the sweating mechanism. A region containing the KCNE4 gene ... was associated ... with chronic idiopathic anhidrosis through GWAS. A candidate mutation (NC_009149.3:g.11813731A > G, rs68643109) disrupting the KCNE4 protein structure could explain the disease but requires further investigation in larger populations." Van der Graaf et al. (2025) "aimed to validate this association in a population of well-phenotyped horses ... 50 horses tested in [their] population produced sweat regardless of [rs68643109] genotype, and the previously associated allele is present at a high frequency across datasets, these data fail to validate the missense variant within the KCNE4 gene as causative of or contributing to equine anhidrosis."

Clinical synopsis/links to phenotypes

Variant Phenotype(s) References (Pubmed ID)
Common phenotypes MP:0013370: anhidrosis
34081968

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002924-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2025 van der Graaf, L., Leigh, W., Szmatoła, T., Roberts, K., Ryan, S., Brown, B., Van Buren, S., Finno, C.J., Petersen, J.L. :
A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis. Anim Genet 56:e70004, 2025. Pubmed reference: 39953936. DOI: 10.1111/age.70004.
2021 Patterson Rosa, L., Walker, N., Mallicote, M., MacKay, R.J., Brooks, S.A. :
Genomic association of chronic idiopathic anhidrosis to a potassium channel subunit in a large animal model. J Invest Dermatol 141:S0022-202X(21)01307-5:2639-2645.e3, 2021. Pubmed reference: 34081968. DOI: 10.1016/j.jid.2021.05.014.

Edit History


  • Created by Imke Tammen2 on 17 Feb 2025
  • Changed by Imke Tammen2 on 17 Feb 2025
  • Changed by Imke Tammen2 on 20 Feb 2025