Cat (Felis catus) — Alkaptonuria (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: AlkaptonuriaSummary: The three characteristic features of alkaptonuria are homogentisic aciduria, ochronosis, and arthritis (Azami and Maleki, J Res Med Sci. 2015 Oct; 20(10): 1018–1019.) The basic cause is deficiency of the enzyme homogentisate 1,2-dioxygenase (HGD). As explained by Bryan et al. (2016), "When HGD is absent or nonfunctional, a melanin-like pigment derivative of HGA, benzoquinoneacetate, accumulates in tissues and alters collagen cross-linking, causing joint pain and cartilage degeneration".
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.
- 2016. Ochronosis-like condition in a cat. Vet Dermatol — PubMed:PMID27225969 | DOI:10.1111/vde.12326 — 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:203500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607474 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
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.
- 2016. Ochronosis-like condition in a cat. Vet Dermatol — PubMed:PMID27225969 | DOI:10.1111/vde.12326 — 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:203500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:607474 (type: gene) — OMIA Group_OMIM (via OMIA_ID)