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Gilbert's syndrome(HBLRG)

MedGen UID:
4891
Concept ID:
C0017551
Disease or Syndrome
Synonyms: Congenital nonhemolytic jaundice; Gilbert Disease; Gilbert Syndrome; HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, ARIAS TYPE; HYPERBILIRUBINEMIA, GILBERT TYPE
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Gilberts syndrome (27503000); Gilbert's syndrome (27503000); Gilbert-Lereboullet syndrome (27503000); Familial nonhemolytic bilirubinemia (27503000); Chronic intermittent juvenile jaundice (27503000); Constitutional hepatic dysfunction (27503000); Cholemia familiaris simplex (27503000); Familial nonhemolytic jaundice (27503000); Gilbert's disease (27503000); Hereditary nonhemolytic jaundice (27503000); Benign unconjugated bilirubinemia syndrome (27503000); Meulengracht syndrome (27503000); Low-grade chronic hyperbilirubinemia syndrome (27503000); Congenital familial cholemia (27503000); Gilbert syndrome (27503000)
 
Gene (location): UGT1A1 (2q37.1)
OMIM®: 143500

Definition

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). Genetic Heterogeneity of Hyperbilirubinemia See also Crigler-Najjar syndrome type I (HBLRCN1; 218800), Crigler-Najjar syndrome type II (HBLRCN2; 606785), and transient familial neonatal hyperbilirubinemia (HBLRTFN; 237900), all caused by mutation in the UGT1A1 gene (191740) on chromosome 2q37; Dubin-Johnson syndrome (DJS, HBLRDJ; 237500), caused by mutation in the ABCC2 gene (601107) on chromosome 10q24; and Rotor syndrome (HBLRR; 237450), caused by digenic mutation in the SLCO1B1 (604843) and SLCOB3 (605495) genes, both on chromosome 12p. [from OMIM]

Additional description

From GHR
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.  http://ghr.nlm.nih.gov/condition/gilbert-syndrome

Clinical features

Jaundice
MedGen UID:
427849
Concept ID:
CN000891
Finding
Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Hepatic failure
MedGen UID:
504829
Concept ID:
CN001280
Finding
Jaundice
MedGen UID:
427849
Concept ID:
CN000891
Finding
Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Unconjugated hyperbilirubinemia
MedGen UID:
506201
Concept ID:
CN007281
Finding
An increased amount of unconjugated (indirect) bilurubin in the blood.

Term Hierarchy

Recent clinical studies

Etiology

Wang X, Liu Y, Chang Y, Liu H, Wang P
Eur J Med Res 2014 Sep 28;19:51. doi: 10.1186/s40001-014-0051-y. [Epub ahead of print] PMID: 25262004Free PMC Article
Horsfall LJ, Hardy R, Wong A, Kuh D, Swallow DM
J Hepatol 2014 Dec;61(6):1344-51. Epub 2014 Jul 31 doi: 10.1016/j.jhep.2014.07.028. [Epub ahead of print] PMID: 25086287
Horsfall LJ, Nazareth I, Pereira SP, Petersen I
J Gastroenterol Hepatol 2013 Oct;28(10):1643-7. doi: 10.1111/jgh.12279. PMID: 23701650
Cure MC, Cure E, Kirbas A, Cicek AC, Yuce S
Blood Coagul Fibrinolysis 2013 Jul;24(5):484-8. doi: 10.1097/MBC.0b013e32835e4230. PMID: 23348429
Arslan E, Çakar M, Şarlak H, Kılınç A, Demirbaş S, Ay SA, Karaman M, Bulucu F, Sağlam K
Clin Exp Hypertens 2013;35(7):512-5. Epub 2013 Jan 3 doi: 10.3109/10641963.2012.758277. [Epub ahead of print] PMID: 23286369

Diagnosis

Wang X, Liu Y, Chang Y, Liu H, Wang P
Eur J Med Res 2014 Sep 28;19:51. doi: 10.1186/s40001-014-0051-y. [Epub ahead of print] PMID: 25262004Free PMC Article
Hsieh TY, Shiu TY, Chu NF, Chao TY, Chu HC, Chang WK, Chao YC, Huang HH
Genet Mol Res 2014 Jan 28;13(1):670-9. doi: 10.4238/2014.January.28.12. PMID: 24615032
Wallner M, Bulmer AC, Mölzer C, Müllner E, Marculescu R, Doberer D, Wolzt M, Wagner OF, Wagner KH
Eur J Clin Invest 2013 Sep;43(9):912-9. Epub 2013 Jul 19 doi: 10.1111/eci.12120. [Epub ahead of print] PMID: 23865893
Horsfall LJ, Nazareth I, Pereira SP, Petersen I
J Gastroenterol Hepatol 2013 Oct;28(10):1643-7. doi: 10.1111/jgh.12279. PMID: 23701650
Arslan E, Çakar M, Şarlak H, Kılınç A, Demirbaş S, Ay SA, Karaman M, Bulucu F, Sağlam K
Clin Exp Hypertens 2013;35(7):512-5. Epub 2013 Jan 3 doi: 10.3109/10641963.2012.758277. [Epub ahead of print] PMID: 23286369

Therapy

Horsfall LJ, Hardy R, Wong A, Kuh D, Swallow DM
J Hepatol 2014 Dec;61(6):1344-51. Epub 2014 Jul 31 doi: 10.1016/j.jhep.2014.07.028. [Epub ahead of print] PMID: 25086287
Cüre E, Yüce S, Ciçek Y, Cüre MC
Anadolu Kardiyol Derg 2013 Sep;13(6):559-65. Epub 2013 Jul 24 doi: 10.5152/akd.2013.180. [Epub ahead of print] PMID: 23886900
Nakagawa T, Mure T, Yusoff S, Ono E, Harahap IS, Morikawa S, Morioka I, Takeshima Y, Nishio H, Matsuo M
Pediatr Int 2012 Dec;54(6):934-6. doi: 10.1111/j.1442-200X.2012.03602.x. PMID: 23279026
Yilmaz M, Unal B, Isik B, Ozgor D, Piskin T, Ersan V, Gonultas F, Yilmaz S
Transplant Proc 2012 Jul-Aug;44(6):1640-3. doi: 10.1016/j.transproceed.2012.04.011. PMID: 22841234
Spraggs CF, Parham LR, Hunt CM, Dollery CT
Clin Pharmacol Ther 2012 Apr;91(4):647-52. Epub 2012 Feb 22 doi: 10.1038/clpt.2011.277. [Epub ahead of print] PMID: 22357454

Prognosis

Horsfall LJ, Hardy R, Wong A, Kuh D, Swallow DM
J Hepatol 2014 Dec;61(6):1344-51. Epub 2014 Jul 31 doi: 10.1016/j.jhep.2014.07.028. [Epub ahead of print] PMID: 25086287
Wallner M, Bulmer AC, Mölzer C, Müllner E, Marculescu R, Doberer D, Wolzt M, Wagner OF, Wagner KH
Eur J Clin Invest 2013 Sep;43(9):912-9. Epub 2013 Jul 19 doi: 10.1111/eci.12120. [Epub ahead of print] PMID: 23865893
Horsfall LJ, Nazareth I, Pereira SP, Petersen I
J Gastroenterol Hepatol 2013 Oct;28(10):1643-7. doi: 10.1111/jgh.12279. PMID: 23701650
Arslan E, Çakar M, Şarlak H, Kılınç A, Demirbaş S, Ay SA, Karaman M, Bulucu F, Sağlam K
Clin Exp Hypertens 2013;35(7):512-5. Epub 2013 Jan 3 doi: 10.3109/10641963.2012.758277. [Epub ahead of print] PMID: 23286369
Kathemann S, Lainka E, Baba HA, Hoyer PF, Gerner P
Pediatr Transplant 2012 Mar;16(2):201-4. doi: 10.1111/j.1399-3046.2012.01662.x. PMID: 22360405

Clinical prediction guides

Žaja O, Tiljak MK, Štefanović M, Tumbri J, Jurčić Z
J Matern Fetal Neonatal Med 2014 May;27(8):844-50. Epub 2013 Sep 19 doi: 10.3109/14767058.2013.837879. [Epub ahead of print] PMID: 23981182
Wallner M, Bulmer AC, Mölzer C, Müllner E, Marculescu R, Doberer D, Wolzt M, Wagner OF, Wagner KH
Eur J Clin Invest 2013 Sep;43(9):912-9. Epub 2013 Jul 19 doi: 10.1111/eci.12120. [Epub ahead of print] PMID: 23865893
Horsfall LJ, Nazareth I, Pereira SP, Petersen I
J Gastroenterol Hepatol 2013 Oct;28(10):1643-7. doi: 10.1111/jgh.12279. PMID: 23701650
Lee MJ, Chang YH, Kang SH, Mun SK, Kim H, Han CJ, Kim J, Kang HJ
Korean J Gastroenterol 2013 Mar 25;61(3):166-9. PMID: 23575236
Arslan E, Çakar M, Şarlak H, Kılınç A, Demirbaş S, Ay SA, Karaman M, Bulucu F, Sağlam K
Clin Exp Hypertens 2013;35(7):512-5. Epub 2013 Jan 3 doi: 10.3109/10641963.2012.758277. [Epub ahead of print] PMID: 23286369

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