Cirneco dell'Etna — Cirneco oculo-neurological syndrome (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_cirneco_dell_etna_cirneco_oculo_neurological_syndrome_dog category: companion-breed-health title: "Cirneco dell'Etna — Cirneco oculo-neurological syndrome (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/cirneco_dell_etna_cirneco_oculo_neurological_syndrome_5906.txt date_parsed: 2026-08-02 tokens_estimated: 270 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_cirneco_dell_etna_cirneco_oculo_neurological_syndrome_dog/01_companion_breed_health_cirneco_dell_etna_cirneco_oculo_neurological_syndrome_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: "Cirneco dell'Etna — Cirneco oculo-neurological syndrome (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002838/9615/" 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

Cirneco dell'Etna — Cirneco oculo-neurological syndrome (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: Cirneco dell'Etna (Dog)
• Disorder: Cirneco oculo-neurological syndrome
• Mode of inheritance: Probably autosomal recessive
• Clin feat: Murgiano et al. (2024) reported two Cirneco dell′ Etna dogs from the same litter with retinal degeneration, along with tremors, gait alteration and signs described as either atypical seizures or paroxysmal dyskinesias. brAnalysis of the brain MRI ... showed a discrete area of bilaterally symmetric, peri-ventricular T2 hyperintensity ... . This signal abnormality extended towards the internal capsule, where it was accompanied by increased T2 signal within the caudate nuclei bilaterally (right greater than left). There was also moderate ventriculomegaly involving the lateral ventricles. This appeared to result from diffuse thinning of cerebral white matter, most notable in the ventral temporal lobe. The results of the CSF analysis were within normal ranges... . The MRI of the cervical spine did not reveal any abnormalities.
• 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 398298883 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Murgiano et al. (2024) "undertook homozygosity mapping and whole-genome sequencing ... [and] detected a 1-bp deletion in chromosome 6 [in affected Cirneco dell′ Etna dogs] that was predicted to cause a frameshift and premature stop codon within the canine&nbsp;<em>AMPD2</em> gene, which encodes adenosine monophosphate deaminase, an enzyme that converts adenosine 5′-monophosphate (AMP) to inosine 5…

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.

• 2024. Frameshift variant in AMPD2 in Cirneco dell'Etna dogs with retinopathy and tremors. Genes (Basel) — PubMed:PMID38397227 | DOI:10.3390/genes15020238 — 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:102771 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:615809 (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."