--- license: permission_granted topic_id: companion_breed_health_chinese_shar_pei_non_epidermolytic_ichthyosis_dog category: companion-breed-health title: "Chinese Shar-Pei — Non-epidermolytic ichthyosis (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/chinese_shar_pei_non_epidermolytic_ichthyosis_4678.txt date_parsed: 2026-08-02 tokens_estimated: 733 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_chinese_shar_pei_non_epidermolytic_ichthyosis_dog/01_companion_breed_health_chinese_shar_pei_non_epidermolytic_ichthyosis_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: "Chinese Shar-Pei — Non-epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002425/9615/" 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
Chinese Shar-Pei — Non-epidermolytic ichthyosis (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: Chinese Shar-Pei (Dog)Disorder: Non-epidermolytic ichthyosisMode of inheritance: Autosomal dominantClin feat: Affolter et al. 2022: A 3-months old male Chinese shar-pei was presented for scaly skin and reduced overall body growth when compared with his 3 littermates ... At the time of presentation severe generalized scaling and alopecia was noted, with scaling most prominent on the head, neck, abdomen, legs, axillary folds and paws. Prominent follicular fronds accompanied surface scaling. The paw pads appeared deformed and hyperkeratotic. Pruritus was not observed. The left eye had an entropium. Skin scrapings for Demodex mites were negative. Skin cytology revealed numerous yeast organisms.Defect: yesPathology: Affolter et al. 2022: Biopsies from all three locations revealed severe hyperkeratosis, characterized by prominent keratin lamellae overlaying a marked compact layer of keratin. The epidermis was markedly acanthotic and most infundibular regions were markedly dilated resulting in narrowing of the interfollicular epidermis. The follicular lumina were filled with keratin and the infundibular epithelium was hyperplastic. Some perinuclear clearing was most evident in the prominent granular layer with irregularly sized keratohyalin. Dispersed mast cells and some plasma cells and neutrophils were present in the superficial dermis and the sebaceous glands were prominent. Several small neutrophilic crusts with some cocci were noted entrapped within the thick keratin layer. In the sample from the shoulder some follicles contained neutrophils in their lumina and the epidermis was covered by parakeratosis. Superficial yeast organisms were not observed in sections stained with periodic acid-Schiff stain. Many hair follicles and remaining hair shafts contained clumped melanin. The following morphologic diagnoses were made: 1) severe acanthosis and superficial and follicular hyperkeratosis suggestive of a cornification disturbance and 2) multifocal neutrophilic pustular dermatitis and neutrophilic luminal folliculitis and 3) melanin pigment clumping indicating dilute hair coat color. The latter was considered an expected incidental finding as the dog had a d1/d2 genotype at the MLPH gene and was born out of two clinically inconspicuous dilute-colored parents. Given the overwhelming features of follicular and superficial hyperkeratosis, a hereditary cornification disorder consistent with ichthyosis was considered. Pustules and superficial folliculitis indicated a secondary pyoderma, which, based on skin cytology, was accompanied by a superficial yeast infection.Prevalence: Affolter et al. (2022) reported on a single affected dog born out of unaffected parents. The ichthyosis phenotype was the result of a de novo mutation event. Therefore, the studied dog most likely represented a unique case.
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: KER1 (Entrez Gene ID 388223343) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Affolter et al. (2022) investigated a single affected dog and its parents. The authors performed whole genome trio sequencing and focussed their search on 36 functional candidate genes for ichthyosis. An initial search for private protein-changing variants in the affected dog against 793 publicly available control genomes (excluding the parents) revealed 2 heterozygous candidate variants. Further …
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.
- 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article
- 2022. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis. PLoS One — PubMed:PMID36251712 | DOI:10.1371/journal.pone.0275367 — 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:139350 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:113800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:146590 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607602 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607654 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:144200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:600962 (type: trait) — 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."