The detail information of Methaemoglobinaemia, CYB5R3-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: -
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| CYB5R3 | cytochrome b5 reductase 3 | Canis lupus familiaris | Chr10 : 23565239 - 23592996 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2018 |
Shino,H.,Otsuka-Yamasaki,Y.,Sato,T.,Ooi,K.,Inanami,O.,Sato,R.,Yamasaki,M.: :
Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. J Vet Intern Med 32:165-171, 2018. Pubmed reference: 29356095 . DOI: 10.1111/jvim.15031 . |
| 2017 |
Jaffey,J.A.,Harmon,M.R.,Villani,N.A.,Creighton,E.K.,Johnson,G.S.,Giger,U.,Dodam,J.R.: :
Long-term Treatment with Methylene Blue in a Dog with Hereditary Methemoglobinemia Caused by Cytochrome b5 Reductase Deficiency. J Vet Intern Med :, 2017. Pubmed reference: 28963729 . DOI: 10.1111/jvim.14843 . |