Great Dane — Ichthyosis, SLC27A4-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_great_dane_omia3791_dog category: companion-breed-health title: "Great Dane — Ichthyosis, SLC27A4-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/great_dane_omia3791_3791.txt date_parsed: 2026-08-02 tokens_estimated: 385 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_great_dane_omia3791_dog/01_companion_breed_health_great_dane_omia3791_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: "Great Dane — Ichthyosis, SLC27A4-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001973/9615/" 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

Great Dane — Ichthyosis, SLC27A4-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: Great Dane (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Clin feat: Clinical examination revealed signs of a generalized severe hyperkeratosis in all cases with a formation of a strongly wrinkled, thickened and scaling skin especially in the region of the eyes and nose. These changes led to a dry inelastic and lichenified skin of an untidy appearance in the affected dogs and a markedly swollen periocular skin which impeded the opening of the puppy’s eyes in some cases. In-between the wrinkles the exudative character of the skin promoted secondary infections. Due to the poor prognosis, all affected dogs were euthanized at the age of 7–40 days. Additional computer tomographic and endoscopic examinations after euthanasia in two five week old affected dogs revealed a ventrally displaced auditory canal with an atypically wrinkled shape but no signs of other anomalies (Metzger et al. 2015).
• Defect: yes
• Pathology: Affected Great Dane puppies had epidermal and follicular orthokeratotic hyperkeratosis, enlarged keratohyaline granules, vacuolated keratinocytes, and accumulations of an eosinophilic and alcianophilic, lipid-rich material within dilated hair follicular lumina and the cytoplasm of sebocytes. The macroscopic, histopathologic, and ultrastructural skin changes indicated a new variant of a primary disorder of cornification with congenital, non-epidermolytic, lamellar ichthyosiform appearance (Hoffmann et al. 2016)

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 388255492 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Metzger et al. (2015) identified a single nucleotide sustitution in exon 8, c.1250G&gt;A, as the most likely causative variant. This variant alters the encoded amino acid seqeunce (p.Arg417Gln). However, the variant predominantly leads to aberrant splicing as it generates a cryptic splice acceptor site within exon 8. Metzger et al. (2015) identified a transcript lacking 54 nucleotides from the beg…

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.

• 2015. A novel SLC27A4 splice acceptor site mutation in Great Danes with ichthyosis. PLoS One — PubMed:PMID26506231 | DOI:10.1371/journal.pone.0141514 — OMIA Phene_Article / Article
• 2016. Congenital ichthyosis in 14 Great Dane puppies with a new presentation. Vet Pathol — PubMed:PMID26242581 | DOI:10.1177/0300985815595516 — 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

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:608649 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:604194 (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."