Gilbert Syndrome (GILBS)

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GARD: ¹⁹ Gilbert syndrome is a mild liver disorder that impairs the body's ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia). Most people with Gilbert syndrome do not have symptoms or have mild jaundice. In some cases, jaundice is triggered or made worse by stress, exercise, fasting, dehydration, drinking alcohol, or illness. Some people with Gilbert syndrome have reported other symptoms such as fatigue, weakness, nausea, or diarrhea. There has not been evidence these other symptoms are caused by hypebilirubinemia, and the cause of these symptoms currently is unclear. People with Gilbert syndrome may also have more side effects from certain drugs such as irinotecan. Gilbert syndrome is caused by genetic changes in the UGT1A1 gene and inheritance is autosomal recessive. Genetic changes in this gene cause reduced levels of a liver enzyme needed to eliminate bilirubin from the body, causing bilirubin to accumulate. People with Gilbert syndrome have about one third of the normal enzyme activity, which usually is enough to prevent symptoms from developing. Of note, genetic changes in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome. There are two forms: Crigler-Najjar syndrome type 1 (CN-1) and Crigler-Najjar syndrome type 2 (CN-2). In both types, jaundice is persistent and more severe than in Gilbert syndrome, with CN-1 causing potentially severe symptoms. Sometimes it can be hard to distinguish between Gilbert syndrome and CN-2 because of considerable overlap in measured bilirubin levels. Genetic testing to identify the specific genetic change present is sometimes needed for the correct diagnosis.

MalaCards based summary: Gilbert Syndrome, also known as gilbert disease, is related to crigler-najjar syndrome, type ii and thalassemia. An important gene associated with Gilbert Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Nuclear receptors meta-pathway. Affiliated tissues include liver, skin and breast, and related phenotypes are unconjugated hyperbilirubinemia and jaundice

MedlinePlus Genetics: ⁴² Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice, which is yellowing of the skin and whites of the eyes.Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

OMIM®: ⁵⁷ The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (218800), and Crigler-Najjar syndrome type II (606785); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), 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). (143500) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.

UniProtKB/Swiss-Prot: ⁷³ Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia ⁷⁵ Cholemia, familial: Cholemia is a condition caused by the presence of excess bile in the blood. Its symptoms can include... more...

Gilbert's syndrome: Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more... more...

Clinical features from OMIM®:

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