Miniature Pinscher — hereditary sensory neuropathy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_miniature_pinscher_hereditary_sensory_neuropathy_dog category: companion-breed-health title: "Miniature Pinscher — hereditary sensory neuropathy (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/miniature_pinscher_hereditary_sensory_neuropathy_2987.txt date_parsed: 2026-08-02 tokens_estimated: 207 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_miniature_pinscher_hereditary_sensory_neuropathy_dog/01_companion_breed_health_miniature_pinscher_hereditary_sensory_neuropathy_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: "Miniature Pinscher — hereditary sensory neuropathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001514/9615/" 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

Miniature Pinscher — hereditary sensory neuropathy (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: Miniature Pinscher (Dog)
• Disorder: hereditary sensory neuropathy
• Mode of inheritance: Autosomal recessive
• Clin feat: As summarised by Plassais et al. (2016): Clinical signs appear in young puppies and consist of acral analgesia, with or without sudden intense licking, biting and severe self-mutilation of the feet, whereas proprioception, motor abilities and spinal reflexes remain intact
• Defect: yes
• Prevalence: Correard et al. (2017): This mutation [chr4.g.70,875,561Cgt;T] is responsible for insensitivity to pain in four sporting dog breeds and it perfectly segregates with the disease in 250 sporting dogs of known clinical status. Moreover, it was not found in any of the 900 unaffected dogs from 130 different breeds.

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 388253976 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: "Targeted high-throughput sequencing of [the positional candidate segment] in 4 affected and 4 unaffected dogs" enabled Plassais et al. (2016) to identify 478 variants, only one of which "perfectly segregated with the expected recessive inheritance in 300 sporting dogs of known clinical status, while it was never present in 900 unaffected dogs from 130 other breeds. This variant, located 90 kb ups…

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.

• 2011. Acral mutilation syndrome in a miniature pinscher. J Comp Pathol — PubMed:PMID20961556 | DOI:10.1016/j.jcpa.2010.08.014 — OMIA Phene_Article / Article
• 2005. Acral mutilation and analgesia in 13 French spaniels. Vet Dermatol — PubMed:PMID15842538 | DOI:10.1111/j.1365-3164.2005.00443.x — OMIA Phene_Article / Article
• 1983. Hereditary sensory neuropathy. Nociceptive loss and acral mutilation in pointer dogs: canine hereditary sensory neuropathy. Am J Pathol — PubMed:PMID6574711 — OMIA Phene_Article / Article
• 1981. Acral mutilation and nociceptive loss in English pointer dogs. A canine sensory neuropathy. Acta Neuropathol — PubMed:PMID6259871 — OMIA Phene_Article / Article
• 2016. A point mutation in a lincRNA upstream of GDNF is associated to a canine insensitivity to pain: A spontaneous model for human sensory neuropathies. PLoS Genetics — PubMed:PMID28033318 | DOI:10.1371/journal.pgen.1006482 — OMIA Phene_Article / Article
• 1973. [Comparative problems of acrodystrophic neuropathies in man and dogs]. Schweiz Arch Neurol Neurochir Psychiatr — PubMed:PMID4725277 — OMIA Phene_Article / Article
• 1964. Die Zehennekrose bei kurzhaarigen Vorstehhunden. Kleintierpraxis — OMIA Phene_Article / Article
• 1984. Reduced substance P-like immunoreactivity in hereditary sensory neuropathy of pointer dogs. Acta Neuropathol — PubMed:PMID6203326 | DOI:10.1007/BF00688468 — OMIA Phene_Article / Article
• 2019. Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies. Hum Genet — PubMed:PMID30955094 | DOI:10.1007/s00439-019-02003-x — OMIA Phene_Article / Article
• 2017. A spontaneous dog model for a human sensory neuropathy: identification of a mutation in the upstream region of a neurotrophic factor. Bull Acad Vét Fr — DOI:10.4267/2042/61953 — OMIA Phene_Article / Article
• 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article
• 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
• (1 additional references in OMIA)

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:223900 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:201300 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:608654 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:613115 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:614213 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:600837 (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."