{"topic_id":"companion_breed_health_minuet_omia652_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_minuet_omia652_cat\ncategory: companion-breed-health\ntitle: \"Minuet — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/minuet_omia652_652.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 480\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_minuet_omia652_cat/01_companion_breed_health_minuet_omia652_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Minuet — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000364/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Minuet — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Minuet (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: FXII-deficiency in cats is characterised by reduced FXII activity and increased APTT [activated partial thromboplastin time] values, but the condition does not appear to be associated with increased risk of bleeding (Maruyama et al., 2019).`\n- `Clin feat: Maruyama et al. (2019) characterized the phenotypic features of FXII deficient client owned-cats: “The study set of 26 cats included 14 females … and 12 males … , with an age range of 0.5 to 16 years … . … FXII activities … ranged from 0.5 to 14% … . … The APTT [activated partial thromboplastin time] values for all cats were prolonged beyond the laboratory's cutoff value for healthy cats of 19.0 s. … Client history questionnaires were completed for 25 of the 26 cats. No cats had experienced spontaneous, non-traumatic hemorrhage, or abnormal bleeding when deciduous teeth were shed. Twenty cats … had undergone ovariohysterectomy or castration procedures and none experienced hemorrhagic complications. … The lack of abnormal bleeding, even among severely FXII deficient cats, combined with the high prevalence of the trait, supports the non-pathologic nature of inactivating F12 mutations in this species.”`\n- `Defect: yes`\n- `Prevalence: Maruyama et al. (2019) investigated the demographics of FXII deficiency in client owned-cats: “Domestic cats were the most common breed listed across all submissions, however 14% of all FXII-deficient cats were described as non-domestic cats. In addition to “mixed breed” cats (n = 9), the pure breeds listed included Siamese (n = 17), Persian (n = 9), Maine coon (n = 5), Ragdoll (n = 5) Himalayan (n = 4), Bengal (n = 2), Siberian (n = 2), Turkish Van (n = 2), Russian blue (n = 2), and 1 each of the following breeds: Manx, Munchkin, Norwegian forest, and Oriental shorthair.”`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 389090104 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Bender et al. (2015) characterised the obvious functional and comparative candidate gene for this disorder, namely the gene for factor XII, in cats: \"Fourteen exons ranging in size from 57 to 222 base pairs were confirmed spanning 8 Kb on chromosome A1. The 1828–base pair feline FXII messenger RNA (mRNA) sequence contains an open reading frame that encodes a protein of 609 amino acids with high ho…\n\n## Evidence (references)\nDerived 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.\n- 1990. The Arthus reaction in cats deficient in Hageman factor  (Factor-XII). J Comp Pathol — PubMed:PMID2138171 | DOI:10.1016/s0021-9975(08)80005-9 — OMIA Phene_Article / Article\n- 1988. Oral mucosa bleeding times of normal cats and cats with Chediak-Higashi syndrome or Hageman trait (Factor XII Deficiency). Vet Clin Pathol — PubMed:PMID15162339 | DOI:10.1111/j.1939-165x.1988.tb00479.x — OMIA Phene_Article / Article\n- 1980. The inheritance pattern of factor XII (Hageman) deficiency in domestic cats. Can J Comp Med — PubMed:PMID7427778 — OMIA Phene_Article / Article\n- 1977. Feline factor XII (Hageman) deficiency. Am J Vet Res — PubMed:PMID879587 — OMIA Phene_Article / Article\n- 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract — PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 — OMIA Phene_Article / Article\n- 2015. Molecular characterization of cat factor XII gene and identification of a mutation causing factor XII deficiency in a domestic shorthair cat colony. Vet Pathol — PubMed:PMID24793828 | DOI:10.1177/0300985814532821 — OMIA Phene_Article / Article\n- 2017. A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. J Vet Med Sci — PubMed:PMID28392508 | DOI:10.1292/jvms.16-0602 — OMIA Phene_Article / Article\n- 2019. Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. Gene — PubMed:PMID31022435 | DOI:10.1016/j.gene.2019.04.053 — OMIA Phene_Article / Article\n- 2006. Feline factor XII deficiency. Compend. Contin. Educ. Pract. Vet. — OMIA Phene_Article / Article\n- 2021. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep — PubMed:PMID33785770 | DOI:10.1038/s41598-021-86200-7 — OMIA Phene_Article / Article\n- 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\n- 2025. Point-of-care ClotPro thromboelastography to determine bleeding risk in two cats with factor XII deficiency. JFMS Open Rep — PubMed:PMID40171498 | DOI:10.1177/20551169251319138 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:234000 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:610619 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Minuet — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Minuet — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2138171/","retrieved":"","ref":"PMID 2138171","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1296,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}