OMIA:001776-9685 : Dihydropyrimidinase deficiency in Felis catus (domestic cat)

Categories: Homeostasis / metabolism phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 222748 (trait) , 613326 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2012

Species-specific symbol: DHP deficiency

History: Chang et al. (2012) reported the first feline case.

Inheritance: Because only one case has been reported, there are no segregation data. However, since the disorder has been shown to be due to an enzyme deficiency, it is almost certain to have autosomal recessive inheritance.

Molecular basis: On the strength of the clinical evidence implying a deficiency of the enzyme dihydropyrimidinase (see section on Clinical features), Chang et al. (2012) used the direct candidate gene approach and sequenced the DPYS gene encoding this enzyme, in the affected cat, showing that "the cat was homozygous for the missense mutation c.1303G>A (p.G435R) in exon 8, which corresponds to a known mutation in a human patient with DHP deficiency."

Clinical features: As reported by Chang et al. (2012), "A gas chromatographic–mass spectrometric analysis of urinary metabolic substances showed the presence of large amounts of dihydrouracil and dihydrothymine and moderate amounts of uracil and thymine, suggesting DHP deficiency".

Pathology: Genotyping 1000 Japanese cats for this mutation revealed no copies of the allele, suggesting that it must be a relatively new mutation.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DPYS dihydropyrimidinase Felis catus F2 NC_058385.1 (49982054..49900798) DPYS Homologene, Ensembl , NCBI gene


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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
125 Dihydropyrimidinase deficiency DPYS missense Naturally occurring variant Felis_catus_9.0 F2 g.52064442C>T c.1303G>A p.(G435R) XM_023248231.1; XP_023103999.1 2012 23430934 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:001776-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2012 Chang, H.S., Shibata, T., Arai, S., Zhang, C., Yabuki, A., Mitani, S., Higo, T., Sunagawa, K., Mizukami, K., Yamato, O. :
Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep 6:21-6, 2012. Pubmed reference: 23430934. DOI: 10.1007/8904_2012_139.

Edit History

  • Created by Frank Nicholas on 15 Apr 2013
  • Changed by Frank Nicholas on 15 Apr 2013
  • Changed by Frank Nicholas on 15 May 2020