Domestic Shorthair — Methaemoglobinaemia, CYB5R3-related (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: Domestic Shorthair (Cat)Disorder:Summary: see also 'OMIA:001171-9685 : Methaemoglobinaemia, generic in Felis catus'Clin feat: Jenni et al. (2023): A young adult European domestic shorthair cat decompensated at induction of anesthesia and was found to have persistent methemoglobinemia of 39 ± 8% (reference range < 3%) of total hemoglobin which could be reversed upon intravenous methylene blue injection. The erythrocytic CYB5R activity was 20 ± 6% of normal. ... Erythrocytic glutathione levels were twice that of controls. Mild microcytosis, echinocytes, and multiple Ca2+-filled vesicles were found in the affected cat. Erythrocytes were unstable at high osmolarities although highly deformable as follows from the changes in elongation index and maximal-tolerated osmolarity.Defect: yes
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 398298741 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Jaffey et al. (2019): "Whole‐genome sequencing revealed a homozygous c.625G&>A missense variant (B4:137967506) [omia.variant:1155] and a c.232‐1G&>C splice acceptor variant (B4:137970815) [omia.variant:1156] in CYB5R3, [one in each of two affected cats] respectively, which were absent in 193 unaffected additional cats. The p.Gly209Ser missense variant likely disrupts a nicotinamide adenine din…
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. Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats. J Vet Intern Med — PubMed:PMID31650629 | DOI:10.1111/jvim.15637 — OMIA Phene_Article / Article
- 2023. Methemoglobinemia, increased deformability and reduced membrane stability of red blood cells in a cat with a CYB5R3 splice defect. Cells — PubMed:PMID37048064 | DOI:10.3390/cells12070991 — OMIA Phene_Article / Article
- 1996. Congenital erythrocyte enzyme deficiencies. Vet Clin North Am Small Anim Pract — PubMed:PMID8863387 | DOI:10.1016/s0195-5616(96)50052-5 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — 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:250800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613213 (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."