Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Genetic hyperbilirubinemia

Genetic hyperbilirubinemia is a group of disorders with elevated unconjugated bilirubin levels that show a great variability of clinical symptoms.

Systematic

Hereditary liver disease
Aceruloplasminemia/Hypoceruloplasminemia
Budd-Chiari syndrome
Caroli disease
Fabry disease
Genetic hyperbilirubinemia
Crigler-Najjar syndrome 1
UGT1A
Crigler-Najjar syndrome 2
UGT1A
Dubin-Johnson syndrome
ABCC2
Familial transient neonatal hyperbilirubinemia
UGT1A
Gilbert syndrome
UGT1A
Rotor type hyperbilirubinemia
SLCO1B1
SLCO1B3
Hemochromatosis
Hepatocellular carcinoma
Ivemark syndrome
Polycystic liver disease

References:

1.

Lin JP et al. (2003) Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study.

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2.

Lin R et al. (2009) Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations.

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3.

Johnson AD et al. (2009) Genome-wide association meta-analysis for total serum bilirubin levels.

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4.

Sanna S et al. (2009) Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.

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5.

Schwertner HA et al. (1994) Association of low serum concentration of bilirubin with increased risk of coronary artery disease.

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6.

Hopkins PN et al. (1996) Higher serum bilirubin is associated with decreased risk for early familial coronary artery disease.

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7.

Hunt SC et al. (1996) Evidence for a major gene elevating serum bilirubin concentration in Utah pedigrees.

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Update: Sept. 26, 2018