--- license: permission_granted topic_id: companion_breed_health_burmese_omia5413_cat category: companion-breed-health title: "Burmese — Frontonasal dysplasia, ALX1-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/burmese_omia5413_5413.txt date_parsed: 2026-08-02 tokens_estimated: 424 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_burmese_omia5413_cat/01_companion_breed_health_burmese_omia5413_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Burmese — Frontonasal dysplasia, ALX1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002717/9685/" 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
Burmese — Frontonasal dysplasia, ALX1-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: Burmese (Cat)Disorder:Mode of inheritance: Autosomal co-dominantSummary: Information about the emALX1/em variant in Burmese cats was previously presented under 'OMIA:001551-9685 : Brachycephaly in Felis catus'. As the variant causes lethal frontonasal dysplasia in animals that are homozygous for the variant, this entry was created [13/6/2023]. As summarised by Lyons et al. (2016), The Burmese is a cat breed with an extreme brachycephalic phenotype . . .. In the late 1970's, a male Burmese cat in the USA with a more brachycephalic head type became a highly popular sire and his lineage became known as the “Contemporary” Burmese . . . . The head type was found to be heritable, however, offspring from “Contemporary” style mating produced a craniofacial defect in 25% of offspring (Noden and Evans, 1986 and Sponenberg and Graf-Webster, 1986). The abnormality is characterized by agenesis of all derivatives of the medial nasal prominence; lateral duplication of most derivatives of the maxillary process; including the canine teeth and whiskers fields; telencephalic meningoencephalocele; and secondary ocular degeneration . . . . The midline facial defect is autosomal recessive, however, carriers of the mutation are more brachycephalic individuals than wildtype and were positively selected in the breed, thus the trait has also been described as co-dominant. Affected kittens were generally born live and require euthanasia as the condition is incompatible with life. The heterozygous cats became the hallmark phenotype of the “Contemporary” Burmese and the predominant winners at cat shows.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 389724544 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Lyons et al (2016): "A long-term project that initiated with targeted linkage analysis, and, as domestic cat genomic resources improved, progressed to identity by descent mapping, homozygosity mapping and a genome-wide case-control association study (GWAS) suggests <em>ALX1</em> as a major gene controlling craniofacial structure and the variant in <em>ALX1</em> is associated with the Burmese brach…
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.
- 1986. Inherited homeotic midfacial malformations in Burmese cats. J Craniofac Genet Dev Biol Suppl — PubMed:PMID2878018 — OMIA Phene_Article / Article
- 1986. Hereditary meningoencephalocele in Burmese cats. J Hered — PubMed:PMID2937834 | DOI:10.1093/oxfordjournals.jhered.a110173 — OMIA Phene_Article / Article
- 2016. Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol — PubMed:PMID26610632 | DOI:10.1016/j.ydbio.2015.11.015 — OMIA Phene_Article / Article
- 2022. Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet — PubMed:PMID35709088 | DOI:10.1371/journal.pgen.1009804 — 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:601527 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613456 (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."