# A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants

**Authors:** Phi Tran, Andrea Grimbergen, Megan Lewis, Ruiyang Yi, Christopher Williams

PMC · DOI: 10.14309/crj.0000000000001436 · 2024-07-17

## TL;DR

This paper presents a rare case of indirect hyperbilirubinemia caused by multiple UGT1A1 gene variants, highlighting the complexity of this condition.

## Contribution

The novelty lies in the rare presentation of multiple UGT1A1 gene variants contributing to indirect hyperbilirubinemia.

## Key findings

- The patient exhibited indirect hyperbilirubinemia due to multiple UGT1A1 gene variants.
- The case highlights the complexity of interpreting multiple UGT1A1 gene variants in clinical settings.

## Abstract

Indirect hyperbilirubinemia is a common clinical finding and rarely can be attributed to Crigler-Najjar syndrome type 2 or Gilbert syndrome. This case displays a rare presentation of indirect hyperbilirubinemia in a patient with multiple UGT1A1 gene variants. We aim to discuss the complexity of multiple UGT1A1 gene variants and its effect on the degree of observed hyperbilirubinemia.

## Linked entities

- **Genes:** UGT1A1 (UDP glucuronosyltransferase family 1 member A1) [NCBI Gene 54658]
- **Diseases:** Crigler-Najjar syndrome type 2 (MONDO:0011725), Gilbert syndrome (MONDO:0007745)

## Full-text entities

- **Genes:** UGT1A1 (UDP glucuronosyltransferase family 1 member A1) [NCBI Gene 54658] {aka BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1}
- **Diseases:** Gilbert syndrome (MESH:D005878), hyperbilirubinemia (MESH:D006932), Crigler-Najjar syndrome type 2 (MESH:C536213), Indirect Hyperbilirubinemia (MESH:D051556)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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Source: https://tomesphere.com/paper/PMC11254110