Doberman Pinscher — Deafness, unilateral and vestibular dysfunction, PTPRQ-related' (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_doberman_pinscher_omia4199_dog category: companion-breed-health title: "Doberman Pinscher — Deafness, unilateral and vestibular dysfunction, PTPRQ-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/doberman_pinscher_omia4199_4199.txt date_parsed: 2026-08-02 tokens_estimated: 136 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_doberman_pinscher_omia4199_dog/01_companion_breed_health_doberman_pinscher_omia4199_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: "Doberman Pinscher — Deafness, unilateral and vestibular dysfunction, PTPRQ-related' (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002196/9615/" 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

Doberman Pinscher — Deafness, unilateral and vestibular dysfunction, PTPRQ-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: Doberman Pinscher (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Summary: See also: a href=https://www.omia.org/OMIA002148/9615/OMIA:002148-9615/a : Deafness, bilateral, and vestibular dysfunction, MYO7A-relatednbsp;
• Defect: yes
• Prevalence: Guevar et al. (2018): Prevalence of the variant was 1.5% in a cohort of 202 unaffected Doberman Pinschers; all unaffected Doberman Pinschers were heterozygous or heterozygous for the reference allele.

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 388249459 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Guvear et al. (2018): "WGS [whole-genome sequencing of one affected dog] and variant filtering [against 154 normal dogs] identified an alteration in a gene associated with both deafness and vestibular disease in humans: protein tyrosine phosphatase, receptor type Q (PTPRQ). There was a homozygous A insertion at CFA15: 22 989 894, causing a frameshift mutation in exon 39 of the gene. This insertion…

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.

• 2018. Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene. J Vet Intern Med — PubMed:PMID29460419 | DOI:10.1111/jvim.15060 — 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:613391 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:617663 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:603317 (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."