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American Shorthair — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)

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--- license: permission_granted topic_id: companion_breed_health_american_shorthair_omia652_cat category: companion-breed-health title: "American Shorthair — Factor XII 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/american_shorthair_omia652_652.txt date_parsed: 2026-08-02 tokens_estimated: 483 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_american_shorthair_omia652_cat/01_companion_breed_health_american_shorthair_omia652_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: "American Shorthair — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000364/9685/" 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

American Shorthair — Factor XII 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: American Shorthair (Cat)
  • Disorder:
  • Mode of inheritance: Autosomal recessive
  • 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).
  • 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.”
  • Defect: yes
  • 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.”

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 389090104 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • 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…

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.

  • 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
  • 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
  • 1980. The inheritance pattern of factor XII (Hageman) deficiency in domestic cats. Can J Comp Med — PubMed:PMID7427778 — OMIA Phene_Article / Article
  • 1977. Feline factor XII (Hageman) deficiency. Am J Vet Res — PubMed:PMID879587 — OMIA Phene_Article / Article
  • 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
  • 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
  • 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
  • 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
  • 2006. Feline factor XII deficiency. Compend. Contin. Educ. Pract. Vet. — OMIA Phene_Article / Article
  • 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
  • 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
  • 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

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:234000 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:610619 (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

American Shorthair — Factor XII deficiency (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 2138171

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