--- license: permission_granted topic_id: companion_breed_health_belgian_shepherd_dog_omia5551_dog category: companion-breed-health title: "Belgian Shepherd Dog — Ataxia, cerebellar, RALGAPA1-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/belgian_shepherd_dog_omia5551_5551.txt date_parsed: 2026-08-02 tokens_estimated: 240 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_belgian_shepherd_dog_omia5551_dog/01_companion_breed_health_belgian_shepherd_dog_omia5551_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: "Belgian Shepherd Dog — Ataxia, cerebellar, RALGAPA1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002757/9615/" 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
Belgian Shepherd Dog — Ataxia, cerebellar, RALGAPA1-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: Belgian Shepherd Dog (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Christen et al. (2023) investigated a [Belgian shepherd] litter in which two puppies developed cerebellar ataxia. The clinical signs stabilized at around six weeks of age, but remained visible into adulthood. ... Genotyping additional ataxic Belgian shepherd dogs revealed three additional homozygous mutant dogs from a single litter, which had been euthanized at five weeks of age due to their severe clinical phenotype.Defect: yesPathology: Christen et al. (2023): Histopathology revealed cytoplasmic accumulation of granular material within cerebellar Purkinje cells [in affected Belgian shepherds].Prevalence: Christen et al. (2023): Genotyping a cohort of almost 900 Belgian shepherd dogs [for the ~4.8 kb deletion] showed ... a carrier frequency of 5% in the population.
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: GARNL1 (Entrez Gene ID 388307002) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Christen et al. (2023) identified a likely causal variant in Belgian shepherd dogs: "Combined linkage and homozygosity mapping delineated a 5.5 Mb critical interval. The comparison of whole-genome sequence data of one affected dog to 929 control genomes revealed a private homozygous ~4.8 kb deletion in the critical interval, Chr8:14,468,376_14,473,136del4761. The deletion comprises exon 35 of the …
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. RALGAPA1 deletion in Belgian shepherd dogs with cerebellar ataxia. Genes (Basel) — PubMed:PMID37628572 | DOI:10.3390/genes14081520 — 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:608884 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:618797 (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."