In other species: horse , Bolivian squirrel monkey

Categories: Homeostasis / metabolism phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 143500 (trait) , 191740 (gene) , 218800 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: unknown

Cross-species summary: Bilirubin is an orange bile pigment produced by the breakdown of haem and reduction of biliverdinin. An excess of bilirubin in the blood, resulting from a defect in uptake of organic anions by the liver, is called hyperbilirubinaemia I or Gilbert's syndrome. Another anion unable to be taken up by affected livers is phylloerythrin, a metabolite of chlorophyll. The resultant high blood levels of phylloerythrin result in photosensitive dermatitis. [Researched by Philippa Beard]

Species-specific description: Redundant: Congenital hyperbilirubinaemia and has been reported in Southdown sheep in New Zealand in 1942 and later in the USA. Affected sheep were considered to be a model for hyperbilirubinaemia I in humans. In humans, this disorder is due to a deficiency of the enzyme bilirubin glucuronosyltransferase, but such a deficiency has not been demonstrated in sheep. The likely causal mutation for the disease has since been identified in the SLCO1B3 gene and references to disease in Southdown sheep have been moved to: 'OMIA:002755-9940 : Hyperbilirubinaemia, SLCO1B3-related in Ovis aries' [Researched by Philippa Beard, updated by IT 19/8/2023].

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing