Dog (Canis lupus familiaris) — Hyperlipoproteinaemia (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: Dog (Canis lupus familiaris)Disorder: HyperlipoproteinaemiaSummary: See also: OMIA:000514-9615 : Hypertriglyceridaemia in& Canis lupus familiaris & (dog)
Causal variant(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.
- Variant: chromosome 13; nt change c.426A>G; protein p.(I142M); dbSNP rs268292980; pathogenicity class 1; gene PrP — OMIA Variant / Variant_Phene
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.
- 1993. Ultracentrifugal and electrophoretic characteristics of the plasma lipoproteins of miniature schnauzer dogs with idiopathic hyperlipoproteinemia. J Vet Intern Med — PubMed:PMID8246216 | DOI:10.1111/j.1939-1676.1993.tb01016.x — OMIA Phene_Article / Article
- 1993. Idiopathic Hyperchylomicronaemia in Miniature Schnauzers. Journal of Small Animal Practice — OMIA Phene_Article / Article
- 1993. Ocular manifestations of hyperlipoproteinaemia. Journal of Small Animal Practice — OMIA Phene_Article / Article
- 2024. Whole blood gene expression analysis of spontaneous hypertriglyceridemia in dogs suggests an underlying pro-thrombotic process. PLoS One — PubMed:PMID39531449 | DOI:10.1371/journal.pone.0313343 — 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:144250 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:238600 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
Causal variant(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.
- Variant: chromosome 13; nt change c.426A>G; protein p.(I142M); dbSNP rs268292980; pathogenicity class 1; gene PrP — OMIA Variant / Variant_Phene
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.
- 1993. Ultracentrifugal and electrophoretic characteristics of the plasma lipoproteins of miniature schnauzer dogs with idiopathic hyperlipoproteinemia. J Vet Intern Med — PubMed:PMID8246216 | DOI:10.1111/j.1939-1676.1993.tb01016.x — OMIA Phene_Article / Article
- 1993. Idiopathic Hyperchylomicronaemia in Miniature Schnauzers. Journal of Small Animal Practice — OMIA Phene_Article / Article
- 1993. Ocular manifestations of hyperlipoproteinaemia. Journal of Small Animal Practice — OMIA Phene_Article / Article
- 2024. Whole blood gene expression analysis of spontaneous hypertriglyceridemia in dogs suggests an underlying pro-thrombotic process. PLoS One — PubMed:PMID39531449 | DOI:10.1371/journal.pone.0313343 — 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:144250 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:238600 (type: trait) — OMIA Group_OMIM (via OMIA_ID)