In other species: sheep , 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: yes

Considered a defect: yes

Key variant known: no

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]

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