Nova Scotia Duck Tolling Retriever — Addison’s disease and multiple autoimmune syndrome, RESF1-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_nova_scotia_duck_tolling_retriever_omia6840_dog category: companion-breed-health title: "Nova Scotia Duck Tolling Retriever — Addison’s disease and multiple autoimmune syndrome, RESF1-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/nova_scotia_duck_tolling_retriever_omia6840_6840.txt date_parsed: 2026-08-02 tokens_estimated: 218 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_nova_scotia_duck_tolling_retriever_omia6840_dog/01_companion_breed_health_nova_scotia_duck_tolling_retriever_omia6840_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Nova Scotia Duck Tolling Retriever — Addison’s disease and multiple autoimmune syndrome, RESF1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA003051/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Nova Scotia Duck Tolling Retriever — Addison’s disease and multiple autoimmune syndrome, RESF1-related (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Nova Scotia Duck Tolling Retriever (Dog)
• Disorder:
• Clin feat: 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.
• Defect: yes
• 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 conjunctivitisnbsp;supporting autoimmune pathogenesis.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: Entrez Gene ID 398299100 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: 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&nbsp;penetrance was not attributable to differences in Dog Leukocyte Antigen (DLA) haplotypes."

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 2026. A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers. Sci Rep — PubMed:PMID41813921 | DOI:10.1038/s41598-026-42994-y — OMIA Phene_Article / Article
• 1997. Hypoadrenocorticism in young related Nova Scotia duck tolling retrievers. Can Vet J — PubMed:PMID9105722 — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:615621 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."