--- license: permission_granted topic_id: companion_breed_health_karelian_bear_dog_omia4144_dog category: companion-breed-health title: "Karelian Bear Dog — Hypophosphatasia (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/karelian_bear_dog_omia4144_4144.txt date_parsed: 2026-08-02 tokens_estimated: 237 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_karelian_bear_dog_omia4144_dog/01_companion_breed_health_karelian_bear_dog_omia4144_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: "Karelian Bear Dog — Hypophosphatasia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002162/9615/" 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
Karelian Bear Dog — Hypophosphatasia (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: Karelian Bear Dog (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Kyöstilä et al. (2019): The disease was recognized in seven KBD puppies with a variable presentation of skeletal hypomineralization, growth retardation, seizures and movement difficultiesDefect: yesPathology: Kyöstilä et al. (2019): Overall, the pathological findings in affected dogs were compatible with a generalized skeletal ossification and mineralization defect. The specific finding of C cell hyperplasia was indicative of long-term hypercalcemia and compatible with the elevated serum calcium level measured in one affected puppy.Prevalence: Kyöstilä et al. (2019): The identified recessive variant showed full segregation with the disease in a cohort of 509 KBDs with a carrier frequency of 0.17 and was absent from 303 dogs from control breeds.
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: ALP (Entrez Gene ID 388199066) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Kyöstilä et al. (2019): "Exome sequencing of one affected dog revealed a homozygous missense variant (c.1301T > G; p.V434G) in the tissue non-specific alkaline phosphatase gene, ALPL."
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.
- 2019. A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia. Sci Rep — PubMed:PMID30700765 | DOI:10.1038/s41598-018-37801-2 — 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:241500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:171760 (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."