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 56 12 52 25 73 36 15 17 32
Gilbert's Syndrome 12 74 25 29 6 39
Gilbert's Disease 12 52 25
Gilbert Disease 25 43 71
Gilbert Syndrome, Susceptibility to 29 6
Hyperbilirubinemia, Gilbert Type; Hblrg 56
Constitutional Hyperbilirubinemia 12
Unconjugated Benign Bilirubinemia 25
Hyperbilirubinemia, Gilbert Type 56
Hereditary Nonhemolytic Jaundice 12
Constitutional Liver Dysfunction 25
Hyperbilirubinemia, Arias Type 56
Familial Nonhemolytic Jaundice 25
Gilbert-Meulengracht Syndrome 12
Hyperbilirubinemia Arias Type 52
Gilbert-Lereboullet Syndrome 25
Hyperbilirubinemia Type 1 52
Meulengracht Syndrome 25
Hyperbilirubinemia I 56
Hyperbilirubinemia 1 25
Cholemia, Familial 52
Gilberts Syndrome 54
Hblrg 56
Gilbs 73

Characteristics:

OMIM:

56
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:

31
gilbert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2739
OMIM 56 143500
OMIM Phenotypic Series 56 PS237450
KEGG 36 H02055
MeSH 43 D005878
NCIt 49 C84729
SNOMED-CT 67 27503000
ICD10 32 E80.4
MedGen 41 C0017551
UMLS 71 C0017551

Summaries for Gilbert Syndrome

NIH Rare Diseases : 52 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 crigler-najjar syndrome, type ii and irinotecan toxicity. 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 Zinc and Zinc sulfate have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and eye, 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 : 56 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 : 36 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 : 73 Gilbert syndrome: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia : 74 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 203)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 31.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 irinotecan toxicity 30.2 UGT1A7 UGT1A1 UGT1A SLCO1B1
3 hereditary spherocytosis 30.1 UGT1A8 UGT1A1 HP G6PD
4 acalculous cholecystitis 30.1 GPT ALB
5 choledocholithiasis 30.0 UGT1A1 GPT ALB
6 hemolytic anemia 29.9 UGT1A1 HP HMOX1 G6PD
7 thalassemia 29.9 UGT1A1 HP GPT G6PD
8 hyperbilirubinemia, rotor type 29.8 SLCO1B1 ALB
9 hemoglobinopathy 29.7 UGT1A1 HP G6PD
10 neonatal jaundice 29.7 UGT1A8 UGT1A1 SLCO1B1 HMOX1 G6PD
11 alpha-thalassemia 29.6 UGT1A1 HP G6PD
12 cholecystitis 29.5 HP GPT ALB
13 gallbladder disease 29.5 UGT1A8 UGT1A1 GPT ALB
14 drug-induced hepatitis 29.5 UGT1A3 UGT1A1 GPT ALB
15 glucosephosphate dehydrogenase deficiency 29.4 UGT1A8 UGT1A1 SLCO1B1 HP G6PD
16 liver disease 29.0 UGT1A1 GPT CYP3A4 ALB
17 cholelithiasis 29.0 UGT1A8 UGT1A6 UGT1A1 HP GPT ALB
18 kernicterus 29.0 UGT1A9 UGT1A8 UGT1A6 UGT1A5 UGT1A1 G6PD
19 deficiency anemia 29.0 HP HMOX1 G6PD ALB
20 crigler-najjar syndrome, type i 28.9 UGT1A9 UGT1A8 UGT1A6 UGT1A5 UGT1A4 UGT1A3
21 viral hepatitis 28.9 HP GPT G6PD ALB
22 sickle cell anemia 28.8 UGT1A8 UGT1A6 UGT1A1 HMOX1 G6PD ALB
23 diarrhea 28.8 UGT1A1 GPT CYP3A4 ALB
24 cholestasis 28.7 SLCO1B1 GPT CYP3A4 ALB
25 liver cirrhosis 28.2 HP GPT CYP3A4 ALB
26 bilirubin, serum level of, quantitative trait locus 1 28.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
27 bilirubin metabolic disorder 25.6 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
28 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.4
29 anemia, congenital dyserythropoietic, type iii 11.2
30 hyperbilirubinemia, shunt, primary 11.2
31 epicardium cancer 10.4 UGT1A8 UGT1A1
32 porphyria 10.4
33 pericholangitis 10.3 UGT1A5 UGT1A10
34 dihydropyrimidine dehydrogenase deficiency 10.3 UGT1A8 UGT1A6 UGT1A1
35 splenomegaly 10.3
36 schizophrenia 10.2
37 gallbladder disease 1 10.2
38 dubin-johnson syndrome 10.2
39 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.2
40 hypertrophic pyloric stenosis 10.1
41 pyloric stenosis 10.1
42 neurofibromatosis, type ii 10.1
43 neutropenia 10.1
44 dipetalonemiasis 10.1 GPT ALB
45 encephalopathy 10.1
46 heterophyiasis 10.1 GPT ALB
47 hepatic infarction 10.1 GPT ALB
48 thiopurines, poor metabolism of, 1 10.1 UGT1A8 UGT1A1 SLCO1B1
49 dicrocoeliasis 10.1 GPT ALB
50 hepatic tuberculosis 10.1 GPT ALB

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:

31
# Description HPO Frequency HPO Source Accession
1 dehydration 31 HP:0001944
2 jaundice 31 HP:0000952
3 unconjugated hyperbilirubinemia 31 HP:0008282

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Gilbert Syndrome according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.84 UGT1A3 UGT1A4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.84 UGT1A4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.84 UGT1A3 UGT1A7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.84 UGT1A4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.84 CYP3A4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.84 UGT1A7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.84 UGT1A3 UGT1A4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.84 UGT1A3 UGT1A4 UGT1A7
9 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.84 UGT1A3 UGT1A5 UGT1A4
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.84 CYP3A4 UGT1A3 UGT1A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.84 UGT1A5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.84 CYP3A4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.84 UGT1A5 UGT1A7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.84 UGT1A7
15 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.84 CYP3A4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.84 CYP3A4
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.84 UGT1A7

Drugs & Therapeutics for Gilbert Syndrome

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

(show top 50) (show all 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
2
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
3
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
6
protease inhibitors Phase 4
7 HIV Protease Inhibitors Phase 4
8 Trace Elements Phase 4
9 Cytochrome P-450 CYP3A Inhibitors Phase 4
10 Anti-Retroviral Agents Phase 4
11 Micronutrients Phase 4
12 Astringents Phase 4
13 Nutrients Phase 4
14 Dermatologic Agents Phase 4
15 Anti-HIV Agents Phase 4
16 Atazanavir Sulfate Phase 4
17 Gastrointestinal Agents Phase 4
18 N-Methylaspartate Phase 4
19 Cholagogues and Choleretics Phase 4
20
L-Alanine Nutraceutical Phase 4 56-41-7 5950
21
Pirfenidone Approved, Investigational Phase 2, Phase 3 53179-13-8 40632
22 Analgesics Phase 2, Phase 3
23 Anti-Inflammatory Agents Phase 2, Phase 3
24 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
25 Analgesics, Non-Narcotic Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3
27
Ipilimumab Approved Phase 2 477202-00-9
28
leucovorin Approved Phase 2 58-05-9 6006 143
29
Methylcobalamin Approved, Investigational Phase 2 13422-55-4
30
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
31
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556
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 58-22-0, 481-30-1 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
nivolumab Approved Phase 1, Phase 2 946414-94-4
40
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
41
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
42
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
43
Rucaparib Approved, Investigational Phase 2 283173-50-2 9931954
44
Durvalumab Approved, Investigational Phase 2 1428935-60-7
45
Bicalutamide Approved Phase 2 90357-06-5 2375 56069
46
Radium Ra 223 dichloride Approved, Investigational Phase 2 444811-40-9
47
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
48
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
49
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50
Cobalamin Experimental Phase 2 13408-78-1 6857388

Interventional clinical trials:

(show all 32)
# 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 Active, not recruiting NCT02262299 Phase 2, Phase 3 Pirfenidone;Placebo
5 Phase II Trial of Gemcitabine, Cisplatin, Plus Ipilimumab as First-line Treatment for Patients With Metastatic Urothelial Carcinoma: Hoosier Cancer Research Network GU10-148 Completed NCT01524991 Phase 2 Gemcitabine;Cisplatin;Ipilimumab
6 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
7 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)
8 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
9 A Phase II Trial of Atezolizumab and Bevacizumab in Cisplatin-ineligible Patients With Advanced/Unresectable Urothelial Cancer Recruiting NCT03272217 Phase 2 Atezolizumab;Bevacizumab
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 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
13 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 Active, not recruiting NCT02891161 Phase 1, Phase 2 durvalumab
14 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
15 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 Active, not recruiting NCT02365766 Phase 1, Phase 2 Pembrolizumab;Gemcitabine;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 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. Unknown status NCT00154960
25 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
26 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia Completed NCT00383318
27 Biomarker for Gilbert Disease - An International, Multi- Center, Epidemiological Protocol Recruiting NCT02712138
28 Paracetamol Hepatotoxicity After Therapeutic Doses: Susceptibility Factors and Early Detection Biomarkers Recruiting NCT03602274
29 LIVER FIBROSIS PREVALENCE IN FRANCE Recruiting NCT01927133
30 Gallbladder Bile Composition in Patients With Gallstones and Healthy Patients Not yet recruiting NCT03981315
31 Gall Bladder Status Among Children With Chronic Haemolytic Anemia Attending to Assuit University Children Hospital Not yet recruiting NCT03533322
32 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:

40
Liver, Testes, Eye, Skin, Prostate, Breast, Lung

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 908)
# Title Authors PMID Year
1
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 6 54 56 61
17496722 2007
2
Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. 56 6 54 61
11906189 2002
3
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 54 61 56 6
11003624 2000
4
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. 56 6 61 54
10412811 1999
5
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 6 56 61 54
7565971 1995
6
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. 54 61 6 56
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. 61 54 6
18004206 2007
8
Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. 6 54 61
15378351 2004
9
Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome. 61 54 56
11316168 2001
10
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 6 54 61
11061796 2000
11
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 54 61 6
10190918 1999
12
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 61 54 6
9653159 1998
13
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 6 54 61
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. 6 54 61
9375769 1997
15
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 54 6 61
9342374 1997
16
Pharmacogenetics of Gilbert's syndrome. 61 56
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. 6 61
14616765 2003
18
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 61 6
12850492 2003
19
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 61 6
10968441 2000
20
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. 61 6
10472535 1999
21
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. 6 61
9929972 1999
22
Gilbert's syndrome--a legitimate genetic anomaly? 56 61
7565981 1995
23
A nonhuman primate model of Gilbert's syndrome. 61 56
6706295 1984
24
Gilbert's syndrome: analytical subcellular fractionation of liver biopsy specimens. Enzyme activities, organelle pathology and evidence for subpopulations of the syndrome. 56 61
391473 1979
25
Polymorphic acetylation and aminopyrine demethylation in Gilbert's syndrome. 61 56
100326 1978
26
Population studies on Gilbert's syndrome. 61 56
1142378 1975
27
Constitutional hepatic dysfunction (Gilbert's syndrome). A new definition based on kinetic studies with unconjugated radiobilirubin. 56 61
5455561 1970
28
Treatment of Gilbert's syndrome with phenobarbitone. 56 61
4195058 1970
29
Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome. 56 61
5770050 1969
30
Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. 61 56
6054997 1967
31
Diagnostic criteria and contributors to Gilbert's syndrome. 52 61
29390925 2018
32
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. 6
23014115 2013
33
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 6
19243019 2009
34
Global gene expression as a function of germline genetic variation. 6
15857854 2005
35
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
36
Pharmacogenetics and drug development: the path to safer and more effective drugs. 6
15372086 2004
37
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 6
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. 6
12402338 2002
39
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
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. 6
11370628 2001
41
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. 6
9784835 1998
42
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 6
9446675 1998
43
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 6
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. 6
8276413 1993
45
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 6
8514037 1993
46
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. 6
1692835 1990
47
Crigler-Najjar type II disease inheritance: a family study. 56
2515370 1989
48
The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase. 6
6480579 1984
49
Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. 56
4897277 1969
50
Gilbert's disease and the bilirubin tolerance test. 56
6017546 1967

Variations for Gilbert Syndrome

ClinVar genetic disease variations for Gilbert Syndrome:

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UGT1A1 NM_001072.4(UGT1A6):c.862-6061C>ASNV Benign, other 12274 rs35350960 2:234669619-234669619 2:233760973-233760973
2 UGT1A1 NM_001072.4(UGT1A6):c.1018C>T (p.Arg340Ter)SNV Pathogenic 12269 rs72551349 2:234676519-234676519 2:233767873-233767873
3 UGT1A1 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp)SNV Pathogenic/Likely pathogenic 12281 rs34993780 2:234681059-234681059 2:233772413-233772413
4 UGT1A , UGT1A1 , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu)SNV Pathogenic/Likely pathogenic 212543 rs34946978 2:234676872-234676872 2:233768226-233768226
5 UGT1A1 UGT1A1*28short repeat drug response 12275 rs3064744 2:234668881-234668881 2:233760235-233760235
6 UGT1A1 UGT1A1*6SNV drug response 12280 rs4148323 2:234669144-234669144 2:233760498-233760498
7 UGT1A1 NM_001072.4(UGT1A6):c.862-6073T>GSNV Conflicting interpretations of pathogenicity, other 160239 rs35003977 2:234669607-234669607 2:233760961-233760961
8 UGT1A1 NM_001072.4(UGT1A6):c.993+15T>CSNV Conflicting interpretations of pathogenicity 160241 rs4148327 2:234675826-234675826 2:233767180-233767180
9 UGT1A1 NM_001072.4(UGT1A6):c.1119T>C (p.Gly373=)SNV Uncertain significance 197147 rs139698110 2:234676903-234676903 2:233768257-233768257
10 UGT1A , UGT1A1 , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1321C>T (p.Arg441Cys)SNV Uncertain significance 286999 rs143033456 2:234680927-234680927 2:233772281-233772281
11 UGT1A1 NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp)SNV Uncertain significance 12286 rs28934877 2:234676979-234676979 2:233768333-233768333
12 UGT1A1 NM_001072.4(UGT1A6):c.1204C>T (p.Arg402Cys)SNV Uncertain significance 498359 rs778766461 2:234676988-234676988 2:233768342-233768342
13 UGT1A1 NM_001072.4(UGT1A6):c.*201G>ASNV Uncertain significance 335083 rs541532523 2:234681406-234681406 2:233772760-233772760
14 UGT1A1 NM_001072.4(UGT1A6):c.*585G>TSNV Uncertain significance 335087 rs886055800 2:234681790-234681790 2:233773144-233773144
15 UGT1A1 NM_001072.4(UGT1A6):c.862-6453T>CSNV Uncertain significance 335079 rs138183896 2:234669227-234669227 2:233760581-233760581
16 UGT1A1 NM_001072.4(UGT1A6):c.862-6447T>CSNV Uncertain significance 335080 rs374655757 2:234669233-234669233 2:233760587-233760587
17 UGT1A1 NM_001072.4(UGT1A6):c.862-6270C>TSNV Uncertain significance 335081 rs199766420 2:234669410-234669410 2:233760764-233760764
18 UGT1A1 NM_001072.4(UGT1A6):c.1319T>C (p.Met440Thr)SNV Uncertain significance 335082 rs202172337 2:234680925-234680925 2:233772279-233772279
19 UGT1A1 NM_001072.4(UGT1A6):c.*339G>CSNV Benign 335085 rs1042640 2:234681544-234681544 2:233772898-233772898
20 UGT1A1 NM_001072.4(UGT1A6):c.*440G>CSNV Benign 335086 rs8330 2:234681645-234681645 2:233772999-233772999
21 UGT1A , UGT1A1 , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-10021T>GSNV Benign 12288 rs4124874 2:234665659-234665659 2:233757013-233757013
22 UGT1A1 NM_001072.4(UGT1A6):c.*211T>CSNV Benign 335084 rs10929303 2:234681416-234681416 2:233772770-233772770

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

73
# 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:

36
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2
Show member pathways
13.22 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3
Show member pathways
12.9 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4
Show member pathways
12.21 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5 12.17 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
6
Show member pathways
12.02 UGT1A9 UGT1A3 UGT1A1 SLCO1B1 CYP3A4
7
Show member pathways
11.87 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
8
Show member pathways
11.85 UGT1A9 UGT1A8 UGT1A3 UGT1A10 UGT1A1 SLCO1B1
9 11.85 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10
Show member pathways
11.78 UGT1A4 UGT1A3 CYP3A4
11
Show member pathways
11.78 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
12
Show member pathways
11.75 UGT1A9 UGT1A6 UGT1A4 UGT1A1 CYP3A4
13 11.65 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
14
Show member pathways
11.5 UGT1A8 UGT1A4 UGT1A3 UGT1A10 CYP3A4
15 11.44 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1 CYP3A4
16
Show member pathways
11.43 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
17
Show member pathways
11.4 UGT1A9 UGT1A7 UGT1A1 CYP3A4
18
Show member pathways
11.4 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
19
Show member pathways
11.29 UGT1A1 SLCO1B1 CYP3A4
20 10.9 UGT1A9 UGT1A4 UGT1A3
21 10.85 SLCO1B1 CYP3A4
22 10.82 GPT G6PD
23 10.79 UGT1A4 UGT1A3
24 10.78 UGT1A1 CYP3A4
25 10.55 UGT1A9 UGT1A10

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 10.03 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 endoplasmic reticulum GO:0005783 9.9 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 endoplasmic reticulum membrane GO:0005789 9.7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 intracellular membrane-bounded organelle GO:0043231 9.4 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 retinoic acid metabolic process GO:0042573 9.8 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1 CYP3A4
2 steroid metabolic process GO:0008202 9.71 UGT1A8 UGT1A1 CYP3A4
3 xenobiotic metabolic process GO:0006805 9.7 UGT1A9 UGT1A6 CYP3A4
4 xenobiotic glucuronidation GO:0052697 9.7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A3 UGT1A10
5 negative regulation of catalytic activity GO:0043086 9.69 UGT1A8 UGT1A7 UGT1A1
6 flavone metabolic process GO:0051552 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A10 UGT1A1
7 drug metabolic process GO:0017144 9.58 UGT1A7 UGT1A1 CYP3A4
8 estrogen metabolic process GO:0008210 9.55 UGT1A1 CYP3A4
9 heme catabolic process GO:0042167 9.54 UGT1A4 UGT1A1 HMOX1
10 flavonoid glucuronidation GO:0052696 9.5 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A3 UGT1A10
11 heterocycle metabolic process GO:0046483 9.49 UGT1A1 CYP3A4
12 coumarin metabolic process GO:0009804 9.48 UGT1A8 UGT1A7
13 negative regulation of steroid metabolic process GO:0045939 9.46 UGT1A8 UGT1A1
14 bilirubin conjugation GO:0006789 9.43 UGT1A4 UGT1A1
15 cellular glucuronidation GO:0052695 9.17 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A10

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 protein homodimerization activity GO:0042803 10.02 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 protein heterodimerization activity GO:0046982 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 transferase activity, transferring glycosyl groups GO:0016757 9.91 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5 retinoic acid binding GO:0001972 9.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
6 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
7 steroid binding GO:0005496 9.61 UGT1A8 UGT1A1 CYP3A4
8 transferase activity, transferring hexosyl groups GO:0016758 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 glucuronosyltransferase activity GO:0015020 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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