Mixed Breed — Congenital insensitivity to pain (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_mixed_breed_congenital_insensitivity_to_pain_dog category: companion-breed-health title: "Mixed Breed — Congenital insensitivity to pain (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_congenital_insensitivity_to_pain_5124.txt date_parsed: 2026-08-02 tokens_estimated: 211 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_mixed_breed_congenital_insensitivity_to_pain_dog/01_companion_breed_health_mixed_breed_congenital_insensitivity_to_pain_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 — Congenital insensitivity to pain (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002616/9615/" 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 — Congenital insensitivity to pain (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: Congenital insensitivity to pain
• Mode of inheritance: Autosomal recessive
• Clin feat: Gutierrez-Quintana et al. (2023): Physical and neurological examinations showed the absence of superficial and deep pain perception in the entire body. The authors studied two affected littermates. One had to be euthanized at 2 months of age due to an infected and dislocated tibial and fibular fracture. The other affected littermate had to be euthanized at 10 months of age after having suffered multiple burns from sleeping too close to a heating radiator and other skin lesions.
• Defect: yes
• Pathology: Gutierrez-Quintana et al. (2023): Histopathological evaluations of the brain, spinal cord and sensory ganglia were normal.

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 388253412 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Gutierrez-Quintana et al. (2023) studied two affected littermates. Whole genome sequencing of one affected dog and comparing the data to 926 control genomes from genetically diverse dogs identified eight private homozygous protein changing variants. One was located in SCN9A, a functional candidate gene for congenital pain insensitivty. It was a missense variant, XM_038584713.1:c.2761C>T or XP_0384…

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.

• 2023. SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain. J Vet Intern Med — PubMed:PMID36630088 | DOI:10.1111/jvim.16610 — OMIA Phene_Article / Article
• 2023. Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain". J Vet Intern Med — PubMed:PMID37083220 | DOI:10.1111/jvim.16707 — OMIA Phene_Article / Article
• 2023. Letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain"-Navigating the pathogenicity of candidate gene mutations: Spotlight on paralog Nav genes. J Vet Intern Med — PubMed:PMID37083183 | DOI:10.1111/jvim.16708 — OMIA Phene_Article / Article
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:243000 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:603415 (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."