Gilbert Syndrome

Description

The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (OMIM ), and Crigler-Najjar syndrome type II (OMIM ); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (OMIM ), Rotor syndrome (OMIM ), and several forms of intrahepatic cholestasis ({147480}, {211600}, {214950}, {243300}). Detailed studies show that patients with Gilbert syndrome have reduced activity of bilirubin glucuronosyltransferase (Bosma et al., 1995, Koiwai et al., 1995). Genetic Heterogeneity of HyperbilirubinemiaSee also Crigler-Najjar syndrome type I (HBLRCN1 ), Crigler-Najjar syndrome type II (HBLRCN2 ), and transient familial neonatal hyperbilirubinemia (HBLRTFN ), all caused by mutation in the UGT1A1 gene (OMIM ) on chromosome 2q37; Dubin-Johnson syndrome (DJS, HBLRDJ; {237500}), caused by mutation in the ABCC2 gene (OMIM ) on chromosome 10q24; and Rotor syndrome (HBLRR ), caused by digenic mutation in the SLCO1B1 (OMIM ) and SLCOB3 (OMIM ) genes, both on chromosome 12p.

Clinical Features

Top most frequent phenotypes and symptoms related to Gilbert Syndrome

  • Fatigue
  • Diarrhea
  • Jaundice
  • Nausea
  • Dehydration
  • Cholestasis
  • Hyperbilirubinemia
  • Intrahepatic cholestasis
  • Conjugated hyperbilirubinemia
  • Neonatal hyperbilirubinemia

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Gilbert Syndrome Is also known as hyperbilirubinemia i, hyperbilirubinemia, gilbert type, hyperbilirubinemia, arias type, hblrg.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Gilbert Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Gilbert syndrome/Irinotecan toxicity.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories (United States).

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Irinotecan Toxicity.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

UGT1A1
Specificity
100 %
Genes
100 %
Liver Diseases Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
UGT1A1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

UGT1A1
Specificity
100 %
Genes
100 %
UGT1A1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

UGT1A1
Specificity
100 %
Genes
100 %
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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