OMIA:001243-9685 : Alkaptonuria in Felis catus (domestic cat)

In other species: crab-eating macaque , chimpanzee , Bornean orangutan , Sumatran orangutan , rabbit

Categories: Renal / urinary system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 203500 (trait) , 607474 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: 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".

History: Bryan et al. (2016) were the first to report ochronosis "histologically and ulstrastructurally in a domestic animal species".

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:001243-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2016 Bryan, L.K., Weeks, B.R., Payne, H.R., Thompson, L.A., Mansell, J.L. :
Ochronosis-like condition in a cat. Vet Dermatol 27:311-e77, 2016. Pubmed reference: 27225969. DOI: 10.1111/vde.12326.

Edit History

  • Created by Frank Nicholas on 27 May 2016
  • Changed by Frank Nicholas on 27 May 2016