{"topic_id":"companion_breed_health_labrador_retriever_hereditary_nasal_parakeratosis_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_labrador_retriever_hereditary_nasal_parakeratosis_dog\ncategory: companion-breed-health\ntitle: \"Labrador Retriever — Hereditary nasal parakeratosis (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/labrador_retriever_hereditary_nasal_parakeratosis_2730.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 160\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_labrador_retriever_hereditary_nasal_parakeratosis_dog/01_companion_breed_health_labrador_retriever_hereditary_nasal_parakeratosis_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Labrador Retriever — Hereditary nasal parakeratosis (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001373/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Labrador Retriever — Hereditary nasal parakeratosis (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Labrador Retriever (Dog)`\n- `Disorder: Hereditary nasal parakeratosis`\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: As summarised by Jagannathan et al. (2013), HNPK affected dogs develop crusts and fissuring of the nasal planum at a young age but are otherwise healthy. The pathognomonic histopathological changes consist of a marked diffuse parakeratotic hyperkeratosis characterized by the retention of nuclei in the stratum corneum and an accumulation of proteinaceous fluid (“serum lakes”) within the stratum corneum.`\n- `Defect: yes`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388246091 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Whole-genome sequencing of one of the affected dogs by Jagannathan et al. (2013), and comparison of this sequence in the ~1.6Mb candidate region with the canine reference sequence revealed four non-synonymous variants, one of which \"turned out to represent an artifact due to an error in the reference genome assembly\". Genotyping of the other three variants in a large (&gt;500) cohort of affected a…\n\n## Evidence (references)\nDerived 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.\n- 2003. Hereditary nasal parakeratosis in Labrador Retrievers. Veterinary Dermatology — PubMed:PMID12662268 — OMIA Phene_Article / Article\n- 2003. Hereditary nasal parakeratosis in Labrador retrievers: 11 new cases and a retrospective study on the presence of accumulations of serum ('serum lakes') in the epidermis of parakeratotic dermatoses and inflamed nasal plana of dogs. Veterinary Dermatology — PubMed:PMID12895224 — OMIA Phene_Article / Article\n- 2013. A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiation. PLoS Genet — PubMed:PMID24098150 | DOI:10.1371/journal.pgen.1003848 — OMIA Phene_Article / Article\n- 2018. A splice site variant in the SUV39H2 gene in Greyhounds with nasal parakeratosis. Anim Genet — PubMed:PMID29423952 | DOI:10.1111/age.12643 — OMIA Phene_Article / Article\n- 2020. Abnormal keratinocyte differentiation in the nasal planum of Labrador Retrievers with hereditary nasal parakeratosis (HNPK). PLoS One — PubMed:PMID32119674 | DOI:10.1371/journal.pone.0225901 — OMIA Phene_Article / Article\n- 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article\n- 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\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:606503 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Labrador Retriever — Hereditary nasal parakeratosis (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Labrador Retriever — Hereditary nasal parakeratosis (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/12662268/","retrieved":"","ref":"PMID 12662268","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":847,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}