OMIA:003051-9615 : Addison’s disease and multiple autoimmune syndrome, RESF1-related in Canis lupus familiaris (dog) |
Categories: Endocrine / exocrine gland phene (incl mammary gland) , Immune system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615621 (gene)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Cross-species summary: Hypoadrenocorticism and multiple autoimmune syndrome
Mapping: Brown et al. (2026): "Genome-wide association identified a significant association on chromosome 27 (chr27:29,724,286, p = 6.96x10-13)"
Molecular basis: Brown et al. (2026): "Whole-genome, short-read sequencing identified a recessive missense variant in RESF1 (Chr27:29,736,795) [omia.variant:1888]. The variant exhibited 76% penetrance for early-onset disease, and the decreased penetrance was not attributable to differences in Dog Leukocyte Antigen (DLA) haplotypes."
Clinical features: Brown et al. (2026) "juvenile-onset AD [Addison’s disease, hypoadrenocorticism] in NSDTRs [Nova Scotia Duck Tolling Retrievers] represents part of a broader multiple autoimmune syndrome (MAS) with variable expressivity. Strikingly, NSDTRs affected by juvenile-onset AD had severely decreased lifespans, with a median survival of 2 years despite appropriate treatment."
Pathology: Brown et al. (2026): "Immunohistochemistry confirmed T cell infiltration in the adrenal cortex of two unrelated [NSDTRs] affected dogs, with necropsy findings including severe bilateral lymphocytic adrenalitis, multisystemic granulomatous inflammation, and lymphoplasmacytic conjunctivitis supporting autoimmune pathogenesis."
Breed:
Nova Scotia Duck Tolling Retriever (Dog) (VBO_0200964).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| RESF1 | retroelement silencing factor 1 | Canis lupus familiaris | 27 | NC_051831.1 (17037820..17009033) | RESF1 | Ensembl, NCBI gene |
Variants
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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 | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1888 | Nova Scotia Duck Tolling Retriever (Dog) | Addison’s disease and multiple autoimmune syndrome | RESF1 | substitution | missense | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 27 | NC_049248.1 g.29736795C>T | XM_038577211.1:c.3170C>T | XP_038433139.1:p.(P1057L) | 2026 | 41813921 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:003051-9615: 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.
| 2026 | Brown, E., Varney, S., Young, A., Wolf, Z., Foreman, O., Wade, C.M., Hughes, A., Oberbauer, A., Safra, N., Lindblad-Toh, K., Burton, S., Bannasch, D. : |
| A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers. Sci Rep , 2026. Pubmed reference: 41813921. DOI: 10.1038/s41598-026-42994-y. | |
| 1997 | Burton, S., DeLay, J., Holmes, A., Somerville, C., Eye, J., Shaw, D., Wack, O., Hanna, P. : |
| Hypoadrenocorticism in young related Nova Scotia duck tolling retrievers. Can Vet J 38:231-4, 1997. Pubmed reference: 9105722. |
Edit History
- Created by Imke Tammen2 on 08 Apr 2026
- Changed by Imke Tammen2 on 08 Apr 2026