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Saluki — Succinic semialdehyde dehydrogenase deficiency (hereditary; OMIA-verified breed predisposition)

companion_breed_health_saluki_omia4308_dog

--- license: permission_granted topic_id: companion_breed_health_saluki_omia4308_dog category: companion-breed-health title: "Saluki — Succinic semialdehyde dehydrogenase 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/saluki_omia4308_4308.txt date_parsed: 2026-08-02 tokens_estimated: 110 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_saluki_omia4308_dog/01_companion_breed_health_saluki_omia4308_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: "Saluki — Succinic semialdehyde dehydrogenase deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002250/9615/" 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

Saluki — Succinic semialdehyde dehydrogenase 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: Saluki (Dog)
  • Disorder:
  • Mode of inheritance: Autosomal recessive
  • Clin feat: Vernau et al. (2020): Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral cortical atrophy with vacuolation (status spongiosus) was noted on necropsy.
  • 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 388253333 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: Vernau et al. (2020): "Whole-genome sequencing of three confirmed cases from three different litters revealed a homozygous missense variant within the aldehyde dehydrogenase 5 family member A1 (ALDH5A1) gene (XM_014110599.2: c.866G>A; XP_013966074.2: p.(Gly288Asp)."

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.

  • 1987. Central nervous system status spongiosus of Saluki dogs. Proceedings of the 5th Annu Meet Vet med Forum, ACVIM. — OMIA Phene_Article / Article
  • 2020. A missense variant in ALDH5A1 associated with canine succinic semialdehyde dehydrogenase deficiency (SSADHD) in the Saluki dog. Genes (Basel) — PubMed:PMID32887425 | DOI:10.3390/genes11091033 — 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:271980 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:610045 (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."

Sources