{"topic_id":"companion_breed_health_chinese_shar_pei_omia1484_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_chinese_shar_pei_omia1484_dog\ncategory: companion-breed-health\ntitle: \"Chinese Shar-Pei — Prekallikrein 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/chinese_shar_pei_omia1484_1484.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 226\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_chinese_shar_pei_omia1484_dog/01_companion_breed_health_chinese_shar_pei_omia1484_dog.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: \"Chinese Shar-Pei — Prekallikrein deficiency (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000819/9615/\"\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# Chinese Shar-Pei — Prekallikrein 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: Chinese Shar-Pei (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Prekallikrein (PK) is a protein that is involved in the blood clotting process. As a result, dogs with a PK deficiency experience prolonged activated partial thromboplastin Time (aPPT) (Okawa et al., 2011). This disorder is often asymptomatic in the absence of other clotting factor deficiencies (Chin et al., 1986). Classical signs of haemostatic disorders such as haematuria and prolonged bleeding or healing times after surgery have been reported but are unlikely unless there is concurrent disease (Chinn et al. 1986). Gastrointestinal bleeding has also been reported in a dog with this disorder (Otto et al., 1991). IT thanks DVM student Eloise O’Connor, who provided the basis of this contribution in May 2023.`\n- `Defect: yes`\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: PK (Entrez Gene ID 26582224) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: Okawa et al. (2011) \"describe a case of a dog that was referred for neurological defects and had a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects. By using human PK-deficient plasma, the dog was diagnosed to have PK deficiency. The nucleotide sequence of normal canine PK cDNA was determined and compared with the genomic sequences …\n\n## Causal variant(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- Variant: chromosome 2; pathogenicity class 1; gene ZFHX1B — OMIA Variant / Variant_Phene\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- 1991. Factor-XII and partial prekallikrein deficiencies in a dog with recurrent gastrointestinal hemorrhage. J Am Vet Med Assoc — PubMed:PMID1995570 — OMIA Phene_Article / Article\n- 2011. Prekallikrein deficiency in a dog. J Vet Med Sci — PubMed:PMID20736516 | DOI:10.1292/jvms.10-0207 — OMIA Phene_Article / Article\n- 1986. Prekallikrein deficiency in a dog. J Am Vet Med Assoc — PubMed:PMID3632973 — OMIA Phene_Article / Article\n- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — 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:229000 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:612423 (type: trait) — 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 — Chinese Shar-Pei — Prekallikrein deficiency (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Chinese Shar-Pei — Prekallikrein deficiency (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/1995570/","retrieved":"","ref":"PMID 1995570","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":834,"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."}