French Bulldog — Coat colour, HPS3-related (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_french_bulldog_omia4351_dog category: companion-breed-health title: "French Bulldog — Coat colour, HPS3-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/french_bulldog_omia4351_4351.txt date_parsed: 2026-08-02 tokens_estimated: 272 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_french_bulldog_omia4351_dog/01_companion_breed_health_french_bulldog_omia4351_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: "French Bulldog — Coat colour, HPS3-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002275/9615/" 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

French Bulldog — Coat colour, HPS3-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: French Bulldog (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• Clin feat: HPS3 deficient (cocoa) coloured dogs are born brown. Their colour darkens with age and they become slightly darker than TYRP1-deficient (chocolate) dogs as adults (Kiener et al. 2020). So far, it has not been investigated whether cocoa coloured dogs have any bleeding disorder or visual impairments, similar to what has been observed in human patients with Hermansky-Pudlak syndrome 3.
• Defect: unknown
• Pathology: Laukner et al. (2021): As HPS3 variants in humans cause the Hermansky-Pudlak syndrome type 3, which in addition to oculocutaneous albinism is characterized by a storage pool deficiency leading to bleeding tendency, we also investigated the phenotypic consequences of the HPS3 variant in French Bulldogs on hematological parameters. HPS3 mutant dogs had a significantly lowered platelet dense granules abundance. However, no increased bleeding tendencies in daily routine were reported by dog owners.

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 388251625 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene

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.

• 2020. Novel brown coat color (cocoa) in French bulldogs results from a nonsense variant in HPS3. Genes (Basel) — PubMed:PMID32526956 | DOI:10.3390/genes11060636 — OMIA Phene_Article / Article
• 2021. Effects of Cocoa genotypes on coat color, platelets and coagulation parameters in French bulldogs. Genes (Basel) — PubMed:PMID34356108 | DOI:10.3390/genes12071092 — OMIA Phene_Article / Article
• 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID34751460 | DOI:10.1111/age.13154 — OMIA Phene_Article / Article
• 2022. Canine coat pigmentation genetics: a review. Anim Genet — PubMed:PMID35510419 | DOI:10.1111/age.13185 — 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:614072 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:606118 (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."