--- license: permission_granted topic_id: companion_breed_health_poodle_miniature_ichthyosis_syndromic_dog category: companion-breed-health title: "Poodle, Miniature — Ichthyosis, syndromic (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/poodle_miniature_ichthyosis_syndromic_6050.txt date_parsed: 2026-08-02 tokens_estimated: 141 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_poodle_miniature_ichthyosis_syndromic_dog/01_companion_breed_health_poodle_miniature_ichthyosis_syndromic_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: "Poodle, Miniature — Ichthyosis, syndromic (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002243/9615/" 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
Poodle, Miniature — Ichthyosis, syndromic (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: Poodle, Miniature (Dog)Disorder: Ichthyosis, syndromicMode of inheritance: DominantClin feat: Kiener et al. (2024) investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth.nbsp;Defect: yesPathology: Histopathological examination of the affected miniature poodle revealed mild epidermal hyperplasia and lamellar orthokeratotic hyperkeratosis (Kiener et al. 2024)
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 398298916 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Kiener et al. (2024) "sequenced the whole genome of the affected [miniature poodle] dog and searched for potentially causative variants in functional candidate genes for the observed phenotype. The analysis revealed a heterozygous in-frame deletion in <em>DSP</em>, NC_049256.1:g.8804542_8804544del resulting from a de novo mutation event as evidenced by genotyping leukocyte DNA from both parents. T…
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.
- 2024. Heterozygous DSP in-frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities. Anim Genet — PubMed:PMID39136317 | DOI:10.1111/age.13467 — 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:125647 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:615821 (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."