GILBS
MCID: GLB001
MIFTS: 58

Gilbert Syndrome (GILBS)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Gilbert Syndrome

MalaCards integrated aliases for Gilbert Syndrome:

Name: Gilbert Syndrome 57 12 53 25 74 37 15 17 33
Gilbert's Syndrome 12 75 25 29 6 40
Gilbert's Disease 12 53 25
Gilbert Disease 25 44 72
Gilbert Syndrome, Susceptibility to 29 6
Hyperbilirubinemia, Gilbert Type; Hblrg 57
Constitutional Hyperbilirubinemia 12
Unconjugated Benign Bilirubinemia 25
Hyperbilirubinemia, Gilbert Type 57
Hereditary Nonhemolytic Jaundice 12
Constitutional Liver Dysfunction 25
Hyperbilirubinemia, Arias Type 57
Familial Nonhemolytic Jaundice 25
Gilbert-Meulengracht Syndrome 12
Hyperbilirubinemia Arias Type 53
Gilbert-Lereboullet Syndrome 25
Hyperbilirubinemia Type 1 53
Meulengracht Syndrome 25
Hyperbilirubinemia I 57
Hyperbilirubinemia 1 25
Cholemia, Familial 53
Gilberts Syndrome 55
Hblrg 57
Gilbs 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
common (up to 7% of the population)
rarely produces clinical jaundice
decreased bilirubin concentration with phenobarbital administration
does not lead to hepatic failure


HPO:

32
gilbert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2739
KEGG 37 H02055
MeSH 44 D005878
NCIt 50 C84729
SNOMED-CT 68 27503000
ICD10 33 E80.4
MedGen 42 C0017551
UMLS 72 C0017551

Summaries for Gilbert Syndrome

NIH Rare Diseases : 53 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 mutations in the UGT1A1 gene and inheritance is autosomal recessive. Mutations 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. Treatment for Gilbert syndrome is usually not needed because in most cases it does not cause symptoms. People with Gilbert syndrome have a normal life expectancy. Of note, mutations 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 life-threatening 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 mutation present is sometimes needed for the correct diagnosis.

MalaCards based summary : Gilbert Syndrome, also known as gilbert's syndrome, is related to irinotecan toxicity and glucosephosphate dehydrogenase deficiency. An important gene associated with Gilbert Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. The drugs Ritonavir and Zinc sulfate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and skin, and related phenotypes are dehydration and jaundice

Disease Ontology : 12 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.

Genetics Home Reference : 25 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)

KEGG : 37
Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.

UniProtKB/Swiss-Prot : 74 Gilbert syndrome: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia : 75 Gilbert's syndrome (GS) is a mild liver disorder in which the liver does not properly process bilirubin.... more...

Related Diseases for Gilbert Syndrome

Diseases related to Gilbert Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 irinotecan toxicity 30.8 UGT1A7 UGT1A1
2 glucosephosphate dehydrogenase deficiency 30.6 UGT1A1 G6PD
3 bilirubin metabolic disorder 30.5 UGT1A7 UGT1A6 UGT1A1 G6PD
4 neonatal jaundice 30.4 UGT1A1 G6PD
5 cholelithiasis 30.4 UGT1A6 UGT1A1
6 crigler-najjar syndrome, type i 29.9 UGT1A9 UGT1A6 UGT1A4 UGT1A1
7 sickle cell anemia 29.6 UGT1A6 UGT1A1 G6PD
8 kernicterus 28.9 UGT1A9 UGT1A6 UGT1A4 UGT1A1 G6PD
9 crigler-najjar syndrome, type ii 28.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10 bilirubin, serum level of, quantitative trait locus 1 25.5 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
11 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.4
12 anemia, congenital dyserythropoietic, type iii 11.2
13 hyperbilirubinemia, shunt, primary 11.2
14 hereditary spherocytosis 10.4
15 porphyria 10.4
16 thalassemia 10.3
17 hemolytic anemia 10.3
18 liver disease 10.3
19 splenomegaly 10.3
20 descending colon cancer 10.2 UGT1A6 UGT1A1
21 schizophrenia 10.2
22 gallbladder disease 1 10.2
23 pigmentation disease 10.2 UGT1A6 UGT1A1
24 dubin-johnson syndrome 10.2
25 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.2
26 dihydropyrimidine dehydrogenase deficiency 10.2 UGT1A6 UGT1A1
27 hypertrophic pyloric stenosis 10.1
28 pyloric stenosis 10.1
29 neurofibromatosis, type ii 10.1
30 neutropenia 10.1
31 encephalopathy 10.1
32 hemochromatosis, type 1 10.1
33 beta-thalassemia 10.1
34 deficiency anemia 10.1
35 heart disease 10.1
36 choledocholithiasis 10.1
37 cholestasis 10.1
38 congenital nonhemolytic jaundice 10.1
39 familial mediterranean fever 10.0
40 mitral valve insufficiency 10.0
41 congenital dyserythropoietic anemia 10.0
42 thrombocytopenia 10.0
43 heart septal defect 10.0
44 atrial heart septal defect 10.0
45 cholecystitis 10.0
46 hepatitis b 10.0
47 acromegaly 10.0
48 acalculous cholecystitis 10.0
49 pre-eclampsia 9.9
50 breast cancer 9.9

Graphical network of the top 20 diseases related to Gilbert Syndrome:



Diseases related to Gilbert Syndrome

Symptoms & Phenotypes for Gilbert Syndrome

Human phenotypes related to Gilbert Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 dehydration 32 HP:0001944
2 jaundice 32 HP:0000952
3 unconjugated hyperbilirubinemia 32 HP:0008282

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
decreased hepatic udp-glucuronyl-transferase activity
hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)
normal liver function test

Clinical features from OMIM:

143500

Drugs & Therapeutics for Gilbert Syndrome

Drugs for Gilbert Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
3
Zinc Approved, Investigational Phase 4 7440-66-6 32051
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
6 HIV Protease Inhibitors Phase 4
7
protease inhibitors Phase 4
8 Micronutrients Phase 4
9 Cytochrome P-450 CYP3A Inhibitors Phase 4
10 Dermatologic Agents Phase 4
11 Anti-HIV Agents Phase 4
12 Trace Elements Phase 4
13 Anti-Retroviral Agents Phase 4
14 Atazanavir Sulfate Phase 4
15 Astringents Phase 4
16 Nutrients Phase 4
17 Gastrointestinal Agents Phase 4
18 N-Methylaspartate Phase 4
19 Cholagogues and Choleretics Phase 4
20 alanine Phase 4
21
Pirfenidone Approved, Investigational Phase 2, Phase 3 53179-13-8 40632
22 Analgesics Phase 2, Phase 3
23 Peripheral Nervous System Agents Phase 2, Phase 3
24 Anti-Inflammatory Agents Phase 2, Phase 3
25 Analgesics, Non-Narcotic Phase 2, Phase 3
26 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
27 Antirheumatic Agents Phase 2, Phase 3
28
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556
29
Methylcobalamin Approved, Experimental, Investigational Phase 2 13422-55-4
30
leucovorin Approved Phase 2 58-05-9 143 6006
31
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
32
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
33
Metronidazole Approved Phase 2 443-48-1 4173
34
Flutamide Approved, Investigational Phase 2 13311-84-7 3397
35
Testosterone Approved, Experimental, Investigational Phase 2 481-30-1, 58-22-0 6013 10204
36
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
37
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
38
Bevacizumab Approved, Investigational Phase 2 216974-75-3
39
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
40
nivolumab Approved Phase 1, Phase 2 946414-94-4
41
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
42
Gemcitabine Approved Phase 2 95058-81-4 60750
43
Ipilimumab Approved Phase 2 477202-00-9
44
Rucaparib Approved, Investigational Phase 2 283173-50-2 9931954
45
Durvalumab Approved, Investigational Phase 2 1428935-60-7
46
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
47
Radium Ra 223 dichloride Approved, Investigational Phase 2 444811-40-9
48
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
49
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 A Randomized Crossover Study of the Effects of Zinc Sulphate Supplementation on Atazanavir/Ritonavir-associated Hyperbilirubinemia Completed NCT01475227 Phase 4 1 Solvazinc tablet, day 2 to day 15;1 Solvazinc tablet, day 15 to day 28
2 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
3 Atazanavir and Endothelial Function in Older HIV Patients Completed NCT03019783 Phase 2, Phase 3 Atazanavir
4 A European Multi-center, Randomised, Double-blind Trial of Pirfenidone in Bronchiolitis-obliterans-syndrome Grade 1-3 in Lung Transplant Recipients Recruiting NCT02262299 Phase 2, Phase 3 Pirfenidone;Placebo
5 A Phase II Study of Pemetrexed (Alimta) as Second-Line Therapy for Hormone Refractory Prostate Cancer: Hoosier Oncology Group GU03-67 Completed NCT00216099 Phase 2 Pemetrexed
6 A Randomized Phase II Trial Combining Vaccine Therapy With PROSTVAC/TRICOM and Flutamide vs. Flutamide Alone in Men With Androgen Insensitive, Non-Metastatic (D0.5) Prostate Cancer Completed NCT00450463 Phase 2 Sargramostim (GM-CSF, Leukine);Flutamide (Eulexin)
7 The Borealis-2 Clinical Trial: A Randomized Phase 2 Study Comparing Docetaxel Alone to Docetaxel in Combination With OGX-427 in Patients With Relapsed or Refractory Metastatic Urothelial Carcinoma After Receiving a Platinum-containing Regimen: Hoosier Cancer Research Network GU12-160 Completed NCT01780545 Phase 2 OGX-427;Docetaxel
8 A Phase II Trial of Atezolizumab and Bevacizumab in Cisplatin-ineligible Patients With Advanced/Unresectable Urothelial Cancer Recruiting NCT03272217 Phase 2 Atezolizumab;Bevacizumab
9 Phase Ib/II Study of Concurrent Durvalumab And Radiation Therapy (DUART) Followed by Adjuvant Durvalumab in Patients With Urothelial Cancer (T2-4 N0-2 M0) of the Bladder: Big Ten Cancer Research Consortium BTCRC-GU15-023 Recruiting NCT02891161 Phase 1, Phase 2 durvalumab
10 A Phase Ib/II Study of Anti-PD-1 Antibody Pembrolizumab and Imprime PGG for Patients With Metastatic Non-small Cell Lung Cancer After Progression on First-Line Therapy: Big Ten Cancer Research Consortium BTCRC-LUN15-017 Recruiting NCT03003468 Phase 1, Phase 2 Imprime PGG;MK-3475;Imprime PGG
11 Phase I/II Study of PROSTVAC in Combination With Nivolumab in Men With Prostate Cancer Recruiting NCT02933255 Phase 1, Phase 2 Nivolumab
12 Phase Ib/II Study of Neoadjuvant Pembrolizumab With Gemcitabine-Cisplatin (Cisplatin-Eligible) or Gemcitabine (Cisplatin-Ineligible) in Subjects With T2-4aN0M0 Urothelial Cancer: HCRN GU14-188 Recruiting NCT02365766 Phase 1, Phase 2 Pembrolizumab;Gemcitabine;Cisplatin
13 Phase II Trial of Gemcitabine, Cisplatin, Plus Ipilimumab as First-line Treatment for Patients With Metastatic Urothelial Carcinoma: Hoosier Cancer Research Network GU10-148 Active, not recruiting NCT01524991 Phase 2 Gemcitabine;Cisplatin;Ipilimumab
14 A Phase I/II, Single Arm, Non-randomized Study of Ribociclib (LEE011), a CDK 4/6 Inhibitor, in Combination With Bicalutamide, an Androgen Receptor (AR) Inhibitor, in Advanced AR+ Triple-negative Breast Cancer: Big Ten Cancer Research Consortium BRE15-024 Active, not recruiting NCT03090165 Phase 1, Phase 2 ribociclib;ribociclib;Bicalutamide
15 PARP Inhibition After Preoperative Chemotherapy in Patients With Triple Negative Breast Cancer or ER/PR +, HER2 Negative With Known BRCA1/2 Mutations: Hoosier Oncology Group BRE09-146 Active, not recruiting NCT01074970 Phase 2 Cisplatin;Rucaparib;Cisplatin
16 A Phase II Randomized Controlled Trial of Genomically Directed Therapy After Preoperative Chemotherapy in Patients With Triple Negative Breast Cancer: Hoosier Oncology Group BRE12-158 Active, not recruiting NCT02101385 Phase 2 Genomically Directed Monotherapy
17 Durvalumab (MEDI4736) as Maintenance Treatment Following Chemoradiation for Locally Advanced Unresectable Esophageal Squamous Cell Carcinoma (DESC). Not yet recruiting NCT04054518 Phase 2 Durvalumab
18 Androgen Deprivation Therapy With or Without Radium-223 Dichloride in Patients With Newly Diagnosed Metastatic Prostate Cancer With Bone Metastases: Hoosier Cancer Research Network GU13-170 Terminated NCT02582749 Phase 2 LHRH agonist/antagonist;Bicalutamide
19 The Pacific Clinical Trial: A Randomized Phase II Study Evaluating OGX-427 in Patients With Metastatic Castrate-Resistant Prostate Cancer (MCRPC)Who Have Prostate-Specific Antigen (PSA) Progression While Receiving Abiraterone: Hoosier Oncology Group GU12-159 Terminated NCT01681433 Phase 2 OGX-427;Abiraterone Acetate;Prednisone
20 GE148-002: A Phase 2, Open-label, Single-Center, Study to Assess GE-148 (18F) Injection Positron Emission Tomography(PET) Imaging to Detect Localized Prostate Cancer Terminated NCT01176513 Phase 2 GE-148 (18F)
21 Pharmacokinetics, Metabolism and Analgesic Effects of Flupirtine After Intravenous, Single Dose and Chronic Oral Administration in Healthy Subjects Genotyped for NAT2, UGT1A1 and GSTP1 Completed NCT01676246 Phase 1 100 mg flupirtine intravenous;100 mg flupirtine per os;400 mg flupirtine per os
22 Safety, Tolerability and Pharmacokinetics of Multiple Rising Oral Doses of 20 mg, 48 mg, 120 mg, and 240 mg Once a Day of BI 201335 NA (Oral Solution) in Healthy Male Subjects, in a Randomized Double Blind, Placebo Controlled Study Completed NCT02182362 Phase 1 BI 201335 NA;Placebo
23 A Pilot Study of Moderate Hyperbilirubinemia in Type 1 Diabetes Mellitus Completed NCT01421355 Phase 1 Atazanavir
24 A Cross-sectional Controlled Study to Evaluate the Impact of Hyperbilirubinemia on Markers of Cardiovascular Disease, Neurocognitive Function and Renal Markers in HIV-1 Infected Subjects on Protease Inhibitors Completed NCT01475240
25 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia Completed NCT00383318
26 Biomarker for Gilbert Disease - An International, Multi- Center, Epidemiological Protocol Recruiting NCT02712138
27 Paracetamol Hepatotoxicity After Therapeutic Doses: Susceptibility Factors and Early Detection Biomarkers Recruiting NCT03602274
28 LIVER FIBROSIS PREVALENCE IN FRANCE Recruiting NCT01927133
29 Gallbladder Bile Composition in Patients With Gallstones and Healthy Patients Not yet recruiting NCT03981315
30 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Attending to Assuit University Children Hospital Not yet recruiting NCT03533322
31 An Investigation of the Effect of the Promoter Polymorphism in the Glucuronosyltransferase 2B7 Using Epirubicin Clearance and the Ratios of Epirubicin and Epirubicinol Glucuronide to Epirubicin Terminated NCT00131612 FEC 100

Search NIH Clinical Center for Gilbert Syndrome

Cochrane evidence based reviews: gilbert disease

Genetic Tests for Gilbert Syndrome

Genetic tests related to Gilbert Syndrome:

# Genetic test Affiliating Genes
1 Gilbert's Syndrome 29 UGT1A1
2 Gilbert Syndrome, Susceptibility to 29

Anatomical Context for Gilbert Syndrome

MalaCards organs/tissues related to Gilbert Syndrome:

41
Liver, Testes, Skin, Eye, Prostate, Breast, Lung

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 905)
# Title Authors PMID Year
1
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 9 38 8 71
17496722 2007
2
Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. 9 38 8 71
11906189 2002
3
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 9 38 8 71
11003624 2000
4
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. 9 38 8 71
10412811 1999
5
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 9 38 8 71
7565971 1995
6
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. 9 38 8 71
8528206 1995
7
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. 9 38 71
18004206 2007
8
Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. 9 38 71
15378351 2004
9
Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome. 9 38 8
11316168 2001
10
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 9 38 71
11061796 2000
11
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 9 38 71
10190918 1999
12
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 9 38 71
9653159 1998
13
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 9 38 71
9375768 1997
14
The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. 9 38 71
9375769 1997
15
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 9 38 71
9342374 1997
16
Pharmacogenetics of Gilbert's syndrome. 38 8
18518849 2008
17
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. 38 71
14616765 2003
18
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 38 71
12850492 2003
19
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 38 71
10968441 2000
20
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. 38 71
10472535 1999
21
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. 38 71
9929972 1999
22
Gilbert's syndrome--a legitimate genetic anomaly? 38 8
7565981 1995
23
A nonhuman primate model of Gilbert's syndrome. 38 8
6706295 1984
24
Gilbert's syndrome: analytical subcellular fractionation of liver biopsy specimens. Enzyme activities, organelle pathology and evidence for subpopulations of the syndrome. 38 8
391473 1979
25
Polymorphic acetylation and aminopyrine demethylation in Gilbert's syndrome. 38 8
100326 1978
26
Population studies on Gilbert's syndrome. 38 8
1142378 1975
27
Constitutional hepatic dysfunction (Gilbert's syndrome). A new definition based on kinetic studies with unconjugated radiobilirubin. 38 8
5455561 1970
28
Treatment of Gilbert's syndrome with phenobarbitone. 38 8
4195058 1970
29
Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome. 38 8
5770050 1969
30
Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. 38 8
6054997 1967
31
Diagnostic criteria and contributors to Gilbert's syndrome. 38 6
29390925 2018
32
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. 71
23014115 2013
33
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 71
19243019 2009
34
Global gene expression as a function of germline genetic variation. 71
15857854 2005
35
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 71
16114182 2005
36
Pharmacogenetics and drug development: the path to safer and more effective drugs. 71
15372086 2004
37
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 71
12859413 2003
38
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. 71
12402338 2002
39
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 71
11425418 2001
40
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. 71
11370628 2001
41
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. 71
9784835 1998
42
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 71
9446675 1998
43
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 71
9621515 1998
44
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. 71
8276413 1993
45
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 71
8514037 1993
46
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. 71
1692835 1990
47
Crigler-Najjar type II disease inheritance: a family study. 8
2515370 1989
48
The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase. 71
6480579 1984
49
Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. 8
4897277 1969
50
Gilbert's disease and the bilirubin tolerance test. 8
6017546 1967

Variations for Gilbert Syndrome

ClinVar genetic disease variations for Gilbert Syndrome:

6 (show all 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 UGT1A1 NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln) single nucleotide variant Benign, other rs35350960 2:234669619-234669619 2:233760973-233760973
2 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 2:234676519-234676519 2:233767873-233767873
3 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 2:234681059-234681059 2:233772413-233772413
4 UGT1A ; UGT1A1 ; UGT1A10 ; UGT1A3 ; UGT1A4 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A8 ; UGT1A9 NM_000463.2(UGT1A1): c.1091C> T (p.Pro364Leu) single nucleotide variant Pathogenic/Likely pathogenic rs34946978 2:234676872-234676872 2:233768226-233768226
5 UGT1A1 UGT1A1*28 short repeat drug response rs3064744 2:234668881-234668881 2:233760235-233760235
6 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 2:234669144-234669144 2:233760498-233760498
7 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 2:234669607-234669607 2:233760961-233760961
8 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 2:234675826-234675826 2:233767180-233767180
9 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 2:234676903-234676903 2:233768257-233768257
10 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Uncertain significance rs28934877 2:234676979-234676979 2:233768333-233768333
11 UGT1A1 NM_000463.2(UGT1A1): c.1207C> T (p.Arg403Cys) single nucleotide variant Uncertain significance rs778766461 2:234676988-234676988 2:233768342-233768342
12 UGT1A ; UGT1A1 ; UGT1A10 ; UGT1A3 ; UGT1A4 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A8 ; UGT1A9 NM_000463.2(UGT1A1): c.1324C> T (p.Arg442Cys) single nucleotide variant Uncertain significance rs143033456 2:234680927-234680927 2:233772281-233772281
13 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 2:234681406-234681406 2:233772760-233772760
14 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 2:234681790-234681790 2:233773144-233773144
15 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 2:234669227-234669227 2:233760581-233760581
16 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 2:234669233-234669233 2:233760587-233760587
17 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 2:234669410-234669410 2:233760764-233760764
18 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 2:234680925-234680925 2:233772279-233772279
19 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 2:234681544-234681544 2:233772898-233772898
20 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 2:234681645-234681645 2:233772999-233772999
21 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 2:234681416-234681416 2:233772770-233772770
22 UGT1A ; UGT1A1 ; UGT1A10 ; UGT1A3 ; UGT1A4 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A8 ; UGT1A9 NM_001072.4(UGT1A6): c.862-10021T> G single nucleotide variant Benign rs4124874 2:234665659-234665659 2:233757013-233757013

UniProtKB/Swiss-Prot genetic disease variations for Gilbert Syndrome:

74
# Symbol AA change Variation ID SNP ID
1 UGT1A1 p.Tyr486Asp VAR_007709 rs34993780
2 UGT1A1 p.Gly71Arg VAR_009504 rs4148323
3 UGT1A1 p.Pro229Gln VAR_009505 rs35350960
4 UGT1A1 p.Arg367Gly VAR_012283 rs55750087
5 UGT1A1 p.Phe83Leu VAR_026136 rs56059937
6 UGT1A1 p.Ile294Thr VAR_026139 rs72551347

Expression for Gilbert Syndrome

Search GEO for disease gene expression data for Gilbert Syndrome.

Pathways for Gilbert Syndrome

Pathways related to Gilbert Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

Pathways related to Gilbert Syndrome according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2
Show member pathways
13.13 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3
Show member pathways
12.75 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 12.14 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
5
Show member pathways
11.96 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6 11.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7
Show member pathways
11.78 UGT1A9 UGT1A3 UGT1A1
8
Show member pathways
11.7 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
9
Show member pathways
11.63 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10
Show member pathways
11.62 UGT1A9 UGT1A6 UGT1A4 UGT1A1
11 11.56 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
12
Show member pathways
11.39 UGT1A8 UGT1A4 UGT1A3 UGT1A10
13 11.36 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1
14
Show member pathways
11.33 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
15
Show member pathways
11.1 UGT1A9 UGT1A1
16 10.86 UGT1A9 UGT1A4 UGT1A3

GO Terms for Gilbert Syndrome

Cellular components related to Gilbert Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 membrane GO:0016020 9.96 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 endoplasmic reticulum GO:0005783 9.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 endoplasmic reticulum membrane GO:0005789 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5 intracellular membrane-bounded organelle GO:0043231 9.32 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Biological processes related to Gilbert Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 retinoic acid metabolic process GO:0042573 9.72 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
2 cellular glucuronidation GO:0052695 9.7 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A10
3 flavone metabolic process GO:0051552 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A10 UGT1A1
4 negative regulation of catalytic activity GO:0043086 9.61 UGT1A8 UGT1A7 UGT1A1
5 xenobiotic glucuronidation GO:0052697 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6 drug metabolic process GO:0017144 9.49 UGT1A7 UGT1A1
7 heme catabolic process GO:0042167 9.48 UGT1A4 UGT1A1
8 coumarin metabolic process GO:0009804 9.46 UGT1A8 UGT1A7
9 negative regulation of steroid metabolic process GO:0045939 9.4 UGT1A8 UGT1A1
10 bilirubin conjugation GO:0006789 9.37 UGT1A4 UGT1A1
11 flavonoid glucuronidation GO:0052696 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Molecular functions related to Gilbert Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 retinoic acid binding GO:0001972 9.92 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
2 UDP-glycosyltransferase activity GO:0008194 9.91 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 transferase activity, transferring hexosyl groups GO:0016758 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
5 transferase activity, transferring glycosyl groups GO:0016757 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6 protein kinase C binding GO:0005080 9.49 UGT1A7 UGT1A10
7 steroid binding GO:0005496 9.48 UGT1A8 UGT1A1
8 glucuronosyltransferase activity GO:0015020 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 transferase activity GO:0016740 10.09 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10 protein homodimerization activity GO:0042803 10.02 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
11 protein heterodimerization activity GO:0046982 10.01 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3

Sources for Gilbert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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