What is the human equivalent of Ichthyosis (Discovered in the Great Dane; SLC27A4-related)?

OMIA links Ichthyosis (Discovered in the Great Dane; SLC27A4-related) to its human counterpart in OMIM (OMIM 608649), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Ichthyosis (Discovered in the Great Dane; SLC27A4-related)

Q: How is Ichthyosis (Discovered in the Great Dane; SLC27A4-related) inherited in dogs?

Ichthyosis (Discovered in the Great Dane; SLC27A4-related) follows a Autosomal recessive inheritance pattern. It has been observed in 1 of 266 breeds screened in the Sniff Atlas.

Q: How well studied is Ichthyosis (Discovered in the Great Dane; SLC27A4-related) in dogs?

OMIA curates 4 peer-reviewed references for Ichthyosis (Discovered in the Great Dane; SLC27A4-related). The full, linked citation list is on this page.

Ichthyosis (Discovered in the Great Dane; SLC27A4-related). Autosomal recessive. Observed in 1 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:001973-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human ichthyosis prematurity syndrome

This is the canine counterpart of ichthyosis prematurity syndrome in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In people, the disease is described as: Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.

In humans it is also called: IPS, congenital ichthyosis type 4, ichthyosis congenita IV, idiopathic pneumonia syndrome.

MONDO:0012089 OMIM 608649

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Clinical features

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).

Molecular genetics

Metzger et al. (2015) identified a single nucleotide sustitution in exon 8, c.1250G>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 beginning of exon 8 in affected dogs. Western blot analysis demonstrated that the SLC27A4 protein is only expressed at very low levels in the skin of affected dogs compared to control dogs.

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)

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 608649 Gene · OMIM 604194

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001973-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as ichthyosis prematurity syndrome (MONDO:0012089).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (doi:10.25910/2AMR-PV70, CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.

Genetics of inherited skin disorders in dogs. · Vet J · 2022 · PMID 34861369
Ichthyosis and hereditary cornification disorders in dogs. · Vet Dermatol · 2021 · PMID 34796560
Congenital ichthyosis in 14 Great Dane puppies with a new presentation. · Vet Pathol · 2016 · PMID 26242581
A novel SLC27A4 splice acceptor site mutation in Great Danes with ichthyosis. · PLoS One · 2015 · PMID 26506231

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Ichthyosis (Discovered in the Great Dane; SLC27A4-related) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Ichthyosis (Discovered in the Great Dane; SLC27A4-related) looks like in your dog's breed.

Carrier frequency by breed

Top 1 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%1%2%

Great Dane<0.1% · n 3,266

<0.1%n 3,266

n = 3,266 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Ichthyosis (Discovered in the Great Dane; SLC27A4-related) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Great Dane	<0.1%	[0.0%, 0.2%]	3,266

265 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001973-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:001973-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001973-9615 · Donner et al. 2023