OMIA:001243-9601 : Alkaptonuria in Pongo abelii (Sumatran orangutan)
Categories: Renal / urinary system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Molecular basis: Fayette et al. (2023): "Sequence analysis [of a functional candidate gene] identified a homozygous missense variant, c.1081G>A (p.Gly361Arg), of the homogentisate 1,2-dioxygenase (HGD) gene."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Fayette et al. (2023): "A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were unremarkable. Urine organic acid analysis showed elevation in homogentisic acid consistent with alkaptonuria."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HGD||homogentisate 1,2-dioxygenase||Pongo abelii||3||NC_071988.1 (17597803..17651848)||HGD||Homologene, Ensembl , NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1584||Alkaptonuria||HGD||missense||Naturally occurring variant||Susiae_PABv2/ponAbe3||3||g.17314095G>A||c.1081G>A||p.(G361R)||2023||37354891|
Cite this entry
|2023||Fayette, M.A., Booth, K.T.A., Lynnes, T.C., Luna, C., Minich, D.J., Wilson, T.E., Miller, M.J. :|
|Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii). Mol Genet Metab 139:107628, 2023. Pubmed reference: 37354891. DOI: 10.1016/j.ymgme.2023.107628.|
- Created by Imke Tammen2 on 26 Jun 2023
- Changed by Imke Tammen2 on 26 Jun 2023
- Changed by Imke Tammen2 on 15 Oct 2023