--- license: permission_granted topic_id: companion_breed_health_italian_hound_omia3893_dog category: companion-breed-health title: "Italian Hound — Myeloperoxidase deficiency (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/italian_hound_omia3893_3893.txt date_parsed: 2026-08-02 tokens_estimated: 268 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_italian_hound_omia3893_dog/01_companion_breed_health_italian_hound_omia3893_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: "Italian Hound — Myeloperoxidase deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002028/9615/" 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
Italian Hound — Myeloperoxidase deficiency (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: Italian Hound (Dog)Disorder:Mode of inheritance: Autosomal recessiveDefect: yesPathology: Gentilini et al. (2016): During routine examinations, we identified a 12-year-old Italian hound dog from the local dog shelter that despite the absence of any evident symptoms of the underlying disease showed primary MPOD in the polymorphonuclear leucocytes and monocytes. This was evident from a complete blood count on an ADVIA 2120 Siemens Analyser with automated MPO staining for differentiation of white blood cells. In typical staining scattergrams, MPO-positive cells, such as neutrophils and monocytes, are clustered within specified areas demarcated by thresholds. The affected dog showed a scattergram typical for MPOD deficiency in humans with all white blood cells consistently aligned on the left in the large unstained cell area. To confirm the diagnosis, the complete blood count was repeated once a month for three consecutive months with identical findings
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 388304943 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Gentilini et al. (2016): "a homozygous c.1987C>T (Ensembl transcript ID: ENSCAFT00000027699) or c.1753C>T (Ensembl transcript ID: ENSCAFT00000049922) [nonsense] substitution, which results in a premature termination codon (p.663Arg*) in the superoxide domain" of the gene encoding myeloperoxidase (MPO).
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.
- 2016. A nonsense mutation in the myeloperoxidase gene is responsible for hereditary myeloperoxidase deficiency in an Italian hound dog. Anim Genet — PubMed:PMID27296514 | DOI:10.1111/age.12463 — 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:254600 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606989 (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."