Labrador Retriever — Hereditary nasal parakeratosis (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: Labrador Retriever (Dog)Disorder: Hereditary nasal parakeratosisMode of inheritance: Autosomal recessiveClin 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.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 388246091 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- 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 (&>500) cohort of affected a…
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.
- 2003. Hereditary nasal parakeratosis in Labrador Retrievers. Veterinary Dermatology — PubMed:PMID12662268 — OMIA Phene_Article / Article
- 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
- 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
- 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
- 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
- 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
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:606503 (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."