Golden Retriever — congenital hypomyelinating polyneuropathy; HPN (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_golden_retriever_congenital_hypomyelinating_polyneuropathy_hpn_5455_dog category: companion-breed-health title: "Golden Retriever — congenital hypomyelinating polyneuropathy; HPN (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/golden_retriever_congenital_hypomyelinating_polyneuropathy_hpn_5455.txt date_parsed: 2026-08-02 tokens_estimated: 179 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_golden_retriever_congenital_hypomyelinating_polyneuropathy_hpn_5455_dog/01_companion_breed_health_golden_retriever_congenital_hypomyelinating_polyneuropathy_hpn_5455_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: "Golden Retriever — congenital hypomyelinating polyneuropathy; HPN (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002727/9615/" 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

Golden Retriever — congenital hypomyelinating polyneuropathy; HPN (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: Golden Retriever (Dog)
• Disorder: congenital hypomyelinating polyneuropathy; HPN
• Mode of inheritance: Probably autosomal recessive
• Summary: Cook et al. (2023): “Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates [see a href=https://omia.org/OMIA001292/9615/OMIA:001292-9615/a : Polyneuropathy, generic in Canis lupus familiaris]. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology.
• Defect: yes

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 388302814 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Cook et al. (2023): “Whole-genome sequencing was performed on all four [affected Golden Retriever] …, and variants from each dog were compared to variants found across &gt;1,000 other dogs, all presumably unaffected with HPN. Likely causative variants were identified for each HPN-affected GR.” The authors identified 3 likely causal variants in functional candidate genes MTMR2, MPZ and SH3TC2. “Cas…

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.

• 2023. Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy. Neuromuscul Disord — PubMed:PMID37400349 | DOI:10.1016/j.nmd.2023.06.007 — OMIA Phene_Article / Article
• 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:603557 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:601382 (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."