--- license: permission_granted topic_id: companion_breed_health_pembroke_welsh_corgi_omia4011_dog category: companion-breed-health title: "Pembroke Welsh Corgi — Ichthyosis, ASPRV1-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/pembroke_welsh_corgi_omia4011_4011.txt date_parsed: 2026-08-02 tokens_estimated: 303 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_pembroke_welsh_corgi_omia4011_dog/01_companion_breed_health_pembroke_welsh_corgi_omia4011_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: "Pembroke Welsh Corgi — Ichthyosis, ASPRV1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002099/9615/" 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
Pembroke Welsh Corgi — Ichthyosis, ASPRV1-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: Pembroke Welsh Corgi (Dog)Disorder:Mode of inheritance: Autosomal dominantClin feat: Bauer et al. (2017) describe a novel non-epidermolytic form of ichthyosis in a German Shepherd. In this breed, until now, no ichthyosis cases have been reported in the scientific literature. . . . Dermatological examination revealed generalized hypotrichosis and focal areas of alopecia with generalized severe exfoliation of greyish scales and mild erythema. Comedones were seen on the ventral abdomen and in the perivulvar area.Defect: yesPathology: Bauer et al. (2017): Histopathological analysis of four skin biopsies from different body regions revealed a severe laminar to compact orthokeratotic hyperkeratosis extending into the follicular infundibula in all biopsies. The keratin layers were multifocally exfoliating as large scales. The underlying epidermis was mildly hyperplastic. In the biopsy from the inguinal region, the infundibula of the hair follicles were moderately dilated. The histological findings were consistent with a cornification disorder and an inherited non-epidermolytic ichthyosis as possible cause.
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 388248660 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Bauer et al. (2017): "Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the <em>ASPRV1</em> gene encoding "aspartic peptidase, retroviral-like 1", which is also known as skin aspartic protease (SASPase). The variant [omia.variant:111] was absent in both parents and therefore due to a de novo…
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.
- 2017. A de novo variant in the ASPRV1 gene in a dog with ichthyosis. PLoS Genet — PubMed:PMID28249031 | DOI:10.1371/journal.pgen.1006651 — OMIA Phene_Article / Article
- 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — 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
- 2022. Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci — PubMed:PMID36006348 | DOI:10.3390/vetsci9080433 — OMIA Phene_Article / Article
- 2024. Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis. Anim Genet — PubMed:PMID38549226 | DOI:10.1111/age.13423 — 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:146750 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:611765 (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."