← All Topics / companion-breed-health

Mixed Breed — Glucocorticoid resistance (hereditary; OMIA-verified breed predisposition)

companion_breed_health_mixed_breed_omia4312_dog

--- license: permission_granted topic_id: companion_breed_health_mixed_breed_omia4312_dog category: companion-breed-health title: "Mixed Breed — Glucocorticoid resistance (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/mixed_breed_omia4312_4312.txt date_parsed: 2026-08-02 tokens_estimated: 233 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_mixed_breed_omia4312_dog/01_companion_breed_health_mixed_breed_omia4312_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: "Mixed Breed — Glucocorticoid resistance (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002254/9615/" 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

Mixed Breed — Glucocorticoid resistance (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: Mixed Breed (Dog)
  • Disorder:
  • Clin feat: Yamanaka et al. (2019) reported a single affected '6-year-old spayed, mixed-breed dog ... . The dog was tentatively diagnosed with pemphigus foliaceus at a private hospital 9 months previously. The dog had been treated with prednisolone ... for approximately 3 months. After the dog was started on the medication, polyuria, polydipsia, and abdominal distension were observed. The pemphigus foliaceus was neither ameliorated nor aggravated. After prednisolone withdrawal, calcinosis cutis was observed on the dorsal skin. Two months later ... the adverse reaction due to glucocorticoid therapy had already disappeared, except for extremely severe calcinosis cutis over the entire dorsal skin ... . The authors diagnosed glucocorticoid resistance in this dog with iatrogenic Cushing syndrome.
  • Defect: yes

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 388246130 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene

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.

  • 2019. Functional characterization of canine wild type glucocorticoid receptor and an insertional mutation in a dog. BMC Vet Res — PubMed:PMID31651346 | DOI:10.1186/s12917-019-2129-9 — OMIA Phene_Article / Article
  • 2016. Polymorphisms in the canine glucocorticoid receptor alpha gene (NR3C1α). J Vet Pharmacol Ther — PubMed:PMID25989385 | DOI:10.1111/jvp.12241 — 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:615962 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:138040 (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."

Sources