eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hereditary spherocytosis |
| Symptom | C0008350|gallstones |
| Sentences | 2 |
| PubMedID- 24947795 | Do ugt1a1 and hmox1 gene promoter polymorphisms increase the risk of hyperbilirubinemia and gallstones in patients with hereditary spherocytosis. |
| PubMedID- 22089616 | There is now clear evidence that the inherited variability in the function of the gene for udp-glucuronosyltransferase-1 (ugt1*1, the enzyme responsible for hepatic glucuronidation of bilirubin) underlies the chronic hyperbilirubinaemia of gilbert's syndrome56, some cases of thalassaemia trait57, and some of the variations in the frequency of gallstones in patients with hereditary spherocytosis58. |
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