Cat (Felis catus) — Dihydropyrimidinase deficiency (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Cat (Felis catus)Disorder: Dihydropyrimidinase deficiencyMode of 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.Clin feat: 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(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 389717086 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: 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) [omia.variant:125] in exon 8, which corresponds to…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2012. Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep — PubMed:PMID23430934 | DOI:10.1007/8904_2012_139 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:222748 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613326 (type: gene) — OMIA Group_OMIM (via OMIA_ID)