--- license: permission_granted topic_id: companion_breed_health_giant_schnauzer_omia4202_dog category: companion-breed-health title: "Giant Schnauzer — Retinal atrophy, progressive, NECAP1-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/giant_schnauzer_omia4202_4202.txt date_parsed: 2026-08-02 tokens_estimated: 213 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_giant_schnauzer_omia4202_dog/01_companion_breed_health_giant_schnauzer_omia4202_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: "Giant Schnauzer — Retinal atrophy, progressive, NECAP1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002198/9615/" 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
Giant Schnauzer — Retinal atrophy, progressive, NECAP1-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: Giant Schnauzer (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: See also a href=../../../../../../OMIA003061/9615/OMIA:003061-9615/a : Leukoencephalomyelopathy, NECAP1-related in Canis lupus familiaris (dog) for a different phenotype caused by variants in the same gene.Defect: yesPrevalence: Hitti et al. (2019): Five thousand one hundred and thirty canids of 175 breeds, 10 cross-breeds and 3 wolves were genotyped for c.544Ggt;A. Only the three PRA-affected GS were homozygous (allele frequency in GS, excluding proband family = 0.015). In addition, we identified heterozygotes belonging to Spitz and Dachshund varieties, demonstrating c.544Ggt;A segregates in other breeds of German origin.
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 388252325 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: "Whole genome sequencing of two PRA-affected full-siblings and both unaffected parents" followed by variant "filtering against 568 canine genomes" enabled Hitti et al. (2019) to identify "a single nucleotide variant in the gene encoding NECAP endocytosis associated 1 (NECAP1): c.544G>A (p.Gly182Arg)" as the likely causal variant of this disorder in "Giant Schnauzer (GS) littermates [that] prese…
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.
- 2019. Whole genome sequencing of Giant Schnauzer dogs with progressive retinal atrophy establishes NECAP1 as a novel candidate gene for retinal degeneration. Genes (Basel) — PubMed:PMID31117272 | DOI:10.3390/genes10050385 — OMIA Phene_Article / Article
- 2021. The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition. https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.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:611623 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:615833 (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."