--- license: permission_granted topic_id: companion_breed_health_miniature_schnauzer_omia647_dog category: companion-breed-health title: "Miniature Schnauzer — Factor VII 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/miniature_schnauzer_omia647_647.txt date_parsed: 2026-08-02 tokens_estimated: 434 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_miniature_schnauzer_omia647_dog/01_companion_breed_health_miniature_schnauzer_omia647_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: "Miniature Schnauzer — Factor VII deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000361/9615/" 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
Miniature Schnauzer — Factor VII 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: Miniature Schnauzer (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Ramirez et al. (2019) report that the disease results in mild to moderate bleeding propensity, but in most cases it is identified by chance when regular coagulation screenings result in extended prothrombin times (PT). Kaae et al. (2008) report that clinical presentation includes subcutaneous hematoma formation, blood loss anemia, and a history of abnormal bleeding. IT thanks DVM student Rami Mazraani, who provided the basis of this contribution in May 2023.Defect: yesPrevalence: Clark et al. (2022) genotyped 67 anticoagulant-negative autopsy cases with unexplained etiology for gross lesions of hemorrhage for the c.407Ggt;A variant (OMIA variant id 40), and reported that All 67 cases tested homozygous for the wild-type allele, indicating that the common FVIID variant was not responsible for the observed unexplained bleeding.Gen test: Ramirez et al. (2019) identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles by causing allele dropout of the normal, wild-type allele. In the absence of an external proficiency program among veterinary genetic testing laboratories, implementation of an internal proficiency program, which requires 2 independent methods for genotyping dogs at any given locus, was further enhanced by ensuring minimally non-overlapping primer pairs between the 2 assays. After redesign of our clinical tests, all dogs were re-examined, and the correct genotypes were identified. These changes ensure higher accuracy in future testing of the F7 mutation.
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 3539631 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Callan et al. (2005, 2006) were the first to report a molecular basis for this disorder in dogs, as follows: "a G to A missense mutation in exon 5 in the affected Beagles, resulting in substitution of glycine 96 (GGA) to glutamic acid (GAA) in the second epidermal growth factor-like domain.…
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.
- 1972. Hereditary factor VII deficiency in the Beagle. British Journal of Haematology — PubMed:PMID5045961 — OMIA Phene_Article / Article
- 1991. Phospholipase-C-sensitive factor-VII complexes in dog plasma. Thromb Res — PubMed:PMID1788825 | DOI:10.1016/0049-3848(91)90339-x — OMIA Phene_Article / Article
- 1993. Buccal mucosa bleeding time is prolonged in canine models of primary hemostatic disorders. Thromb Haemost — PubMed:PMID8128434 — OMIA Phene_Article / Article
- 1997. Factor VII deficiency in an Alaskan Malamute. Australian Veterinary Journal — PubMed:PMID9196814 — OMIA Phene_Article / Article
- 1999. Factor VII deficiency in a mixed breed dog. Canadian Veterinary Journal - Revue Veterinaire Canadienne — OMIA Phene_Article / Article
- 1988. Hereditary blood coagulation factor-VII deficiency: a comparison of the defect in Beagles from several sources. Comparative Biochemistry and Physiology. A. Comparative Physiology — PubMed:PMID2896576 — OMIA Phene_Article / Article
- 1986. Hereditary blood coagulation factor-VII deficiency in the Beagle: immunological characterisation of the defect. Comparative Biochemistry and Physiology. A. Comparative Physiology — PubMed:PMID2870866 — OMIA Phene_Article / Article
- 1984. Persistent uterine and vaginal hemorrhage in a Beagle with factor-VII deficiency. Journal of the American Veterinary Medical Association — PubMed:PMID6469849 — OMIA Phene_Article / Article
- 1987. [Congenital deficiency of factor VII in a canine family] [Japanese]. Experimental Animals — PubMed:PMID3436375 — OMIA Phene_Article / Article
- 1970. The assay of human factor VII by means of modified factor VII deficient dog plasma. British Journal of Maematology — PubMed:PMID5416591 — OMIA Phene_Article / Article
- 1967. Factor VII deficiency in Beagle dog plasma and its use in the assay of human factor VII. Nature — PubMed:PMID6075264 — OMIA Phene_Article / Article
- 2003. Sensitivity of different prothrombin time assays to factor VII deficiency in canine plasma. Veterinary Journal — OMIA Phene_Article / Article
- (28 additional references in OMIA)
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:227500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613878 (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."