OMIA:002445-9685 : Xanthinuria, type I in Felis catus (domestic cat) |
In other species: dog
Categories: Renal / urinary system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 607633 (gene) , 278300 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Animals with hereditary xanthinuria (excretion of large amounts of xanthine in the urine) may be asymptomatic, may have subclinical uroliths (xanthine stones), or present with clinical signs of urolithiasis. Urolith formation can be influenced by other biologic and environmental factors such as sex, diet and urine properties. Xanthinuria, type I (OMIA002445) is caused by variation in the XDH gene and xanthinuria, type II (OMIA 001819) is caused by variation in the MOCOS gene. Information relating to xanthinuria without identified causal variants is listed under xanthinuria, generic (OMIA 001283).
Species-specific name: XDH deficiency; xanthine uroliths; urolithiasis
Species-specific description: Pritchard et al. (2023): "DNA was extracted from EDTA-stabilised blood obtained from a Domestic Shorthair cat with clinically confirmed xanthinuria. Whole-genome sequencing and variant assessment in XDH and MOCOS identified XDH:c.2042C>T (XDH:p.(A681V)) as a candidate causative variant for xanthinuria in this cat. ... When assessed in the wider cat population, the variant had an allele frequency of 15.8%, with 0.9% of the animals assessed homozygous for the alternative allele. Cats diagnosed with xanthinuria should be tested for this variant to validate its clinical relevance in the wider population."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Pritchard et al. (2023) report "an 8-month-old male neutered Domestic Shorthair cat. The cat presented clinically with pollakiuria and dysuria. Voided urinalysis identified marked crystalluria and multiple small uroliths. Ultrasound identified bilateral nephroliths and xanthinuria was confirmed by infrared spectrometry ... ."
Breed:
Domestic Shorthair.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| XDH | xanthine dehydrogenase | Felis catus | A3 | NC_058370.1 (114827572..114884753) | XDH | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1541 | Domestic Shorthair | Xanthinuria, type 1 | XDH | missense | Naturally occurring variant | Felis_catus_9.0 | A3 | g.114863284C>T | c.2042C>T | p.(A681V) | 2023 | 36970934 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002445-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Pritchard, E., Samaha, G., Mizzi, K., Boland, L., 99Lives consortium, Haase, B. : |
| Candidate causative variant for xanthinuria in a Domestic Shorthair cat. Anim Genet , 2023. Pubmed reference: 36970934. DOI: 10.1111/age.13318. |
Edit History
- Created by Imke Tammen2 on 28 Mar 2023
- Changed by Imke Tammen2 on 28 Mar 2023
- Changed by Imke Tammen2 on 05 Jun 2023