OMIA:002917-9615 : Hyperbiliverdinaemia in Canis lupus familiaris (dog) |
Categories: Homeostasis / metabolism phene , Renal / urinary system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 614156 (trait) , 109750 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Biliverdinuria
Molecular basis: Furrow et al. (2024): "Whole genome and Sanger sequencing [of two two adult mixed-breed dogs with life-long green urine] revealed that each case was homozygous for large deletions in BLVRA: UU_Cfam_GSD_1.0/canFam4 chr18:6,532,022-6,551,313 (19,292 bp) in Case 1 and chr18:6,543,863-6,545,908 (2046 bp) in Case 2. These variants were predicted to result in major BLVRA truncations (ENSCAFT00805017018.1 p.[Lys117-Lys296del] and p.[Ala154fs], respectively) and loss of enzyme function."
Breed:
Mixed Breed (Dog) (VBO_0200902).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| BLVRA | biliverdin reductase A | Canis lupus familiaris | 18 | NC_051822.1 (6549500..6469626) | BLVRA | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1770 | Mixed Breed (Dog) | Biliverdinuria | BLVRA | deletion, gross (>20) | Naturally occurring variant | UU_Cfam_GSD_1.0 | 18 | NC_049239.1:g.6532022_6551313del | XP_038418561.1:p.[K117_K296del] | 2024 | 39766828 | |||||
| 1771 | Mixed Breed (Dog) | Biliverdinuria | BLVRA | deletion, gross (>20) | Naturally occurring variant | UU_Cfam_GSD_1.0 | 18 | NC_049239.1:g.6543863_6545908 | XP_038418561.1:p.[A154fs] | 2024 | 39766828 |
Clinical synopsis/links to phenotypes
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002917-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Furrow, E., Peralta, J.A., Moore, A.R., Minor, K.M., Guerrero, C., Hemmila, C.R., DiCiccio, V., Cullen, J.N., Friedenberg, S.G., Giger, U. : |
| Biliverdinuria caused by exonic BLVRA deletions in two dogs with green urine. Genes (Basel) 15:1561, 2024. Pubmed reference: 39766828. DOI: 10.3390/genes15121561. |
Edit History
- Created by Imke Tammen2 on 28 Jan 2025
- Changed by Imke Tammen2 on 28 Jan 2025
- Changed by Imke Tammen2 on 31 Jan 2025