Cat (Felis catus) β Haemophilia A (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Cat (Felis catus)Disorder: Haemophilia AClin feat: Beetz et al. (2024) reported a 3-month-old domestic shorthair tomcat with alternating lameness, fever and inappetence: "Coagulation tests revealed an isolated prolonged activated partial thromboplastin time (aPTT). Activity of factor VIII was 5% (reference range: 70β125%), of factor IX 55% (80β130%), and of factor XII 73% (50β140%)."
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 398298973 (no symbol in OMIA GeneSynonym) β OMIA Phene_Gene
- OMIA molecular-genetics note: Beetz et al. (2024) reported a suspected splice variant in intron 19 of the <em>F8</em> gene (c.6073+2βT>C, omia.variant:1767) as likely causal variant in a 3-month-old domestic shorthair tomcat with haemophilia A.
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. A combined deficiency of Factor-VIII and contact activation defect in a family of cats. British Veterinary Journal β PubMed:PMID2306600 | DOI:10.1016/0007-1935(90)90073-C β OMIA Phene_Article / Article
- 1988. Inherited coagulation disorders. Vet Clin North Am Small Anim Pract β PubMed:PMID3282382 | DOI:10.1016/s0195-5616(88)50018-9 β OMIA Phene_Article / Article
- 1978. Hemophilia A in three unrelated cats. J Am Vet Med Assoc β PubMed:PMID627514 β OMIA Phene_Article / Article
- 1982. An effective mass-screening program for animal models of the inherited bleeding disorders. Prog Clin Biol Res β PubMed:PMID6981819 β OMIA Phene_Article / Article
- 2024. HΓ€mophilie A bei einem Kater mit wechselnden Lahmheiten [Hemophilia A in a male cat with intermittent lameness]. Tierarztl Prax Ausg K Kleintiere Heimtiere β PubMed:PMID39447565 | DOI:10.1055/a-2404-1427 β 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:306700 (type: trait) β OMIA Group_OMIM (via OMIA_ID)
- OMIM:300841 (type: gene) β OMIA Group_OMIM (via OMIA_ID)