OMIA 000366-9913 : Fanconi syndrome in Bos taurus
Joller et al. (2018) reported the same likely causal variant in a Swiss Braunvieh calf.Clinical features: Joller et al. (2018): "The clinical examination [of the Braunvieh calf] showed stunted growth, polyuria and polydipsia, as well as poor claw horn and coat quality. Necropsy revealed a pale cortex of the kidneys and a unilateral renal hypoplasia. Histology showed tubulonephrosis of the proximal tubules with protein- and glucose-rich contents. Glycogen accumulation was not evident in any organ. This finding is different from the reported lesions in two previously described GLUT2-deficient Fleckvieh heifers. In the presented case, growth retardation mainly seems to be associated with renal dysfunction." Breeds: Braunvieh, German Fleckvieh. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC2A2||solute carrier family 2 (facilitated glucose transporter), member 2||Bos taurus||1||NC_037328.1 (96452863..96485584)||SLC2A2||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 headers.
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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Braunvieh Fleckvieh||Fanconi syndrome||SLC2A2||delins, small (<=20)||UMD3.1||1||g.97239973_97239976delTTGAAAAG||c.771_778delTTGAAAAGinsCATC||rs379675307||2016||27169150||Some variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446|
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||Joller, S., Stettler, M., Locher, I., Dettwiler, M., Seefried, F., Meylan, M., Drögemüller, C. :|
|[Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh]. Schweiz Arch Tierheilkd 160:179-184, 2018. Pubmed reference: 29509141. DOI: 10.17236/sat00152.|
|2016||Burgstaller, J., Url, A., Pausch, H., Schwarzenbacher, H., Egerbacher, M., Wittek, T. :|
|Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). Berl Munch Tierarztl Wochenschr 129:132-7, 2016. Pubmed reference: 27169150.|
|1996||Deinhofer, M. :|
|Paradoxic glucosuria (fanconi syndrome) in a bull Veterinary Record 138:395-396, 1996. Pubmed reference: 8732194.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 13 Apr 2016
- Changed by Frank Nicholas on 23 Mar 2018