GILBS
MCID: GLB001
MIFTS: 60

Gilbert Syndrome (GILBS) malady

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

Aliases & Classifications for Gilbert Syndrome

Aliases & Descriptions for Gilbert Syndrome:

Name: Gilbert Syndrome 12 50 24 25 54 66 14
Gilbert Disease 25 29 42 69
Gilbert's Disease 12 50 25
Gilbert's Syndrome 12 25
Constitutional Hyperbilirubinemia 12
Unconjugated Benign Bilirubinemia 25
Hereditary Nonhemolytic Jaundice 12
Constitutional Liver Dysfunction 25
Familial Nonhemolytic Jaundice 25
Gilbert-Meulengracht Syndrome 12
Hyperbilirubinemia Arias Type 50
Gilbert-Lereboullet Syndrome 25
Hyperbilirubinemia Type 1 50
Hyperbilirubinemia Type I 24
Meulengracht Syndrome 25
Hyperbilirubinemia 1 25
Cholemia, Familial 50
Gilberts Syndrome 52
Rotor Syndrome 69
Gilbs 66

Characteristics:

HPO:

32
gilbert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2739
ICD10 33 E80.4
MeSH 42 D005878
NCIt 47 C84729
MedGen 40 C0017551
OMIM 54 143500
UMLS 69 C0017551

Summaries for Gilbert Syndrome

OMIM : 54 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated... (143500) more...

MalaCards based summary : Gilbert Syndrome, also known as gilbert disease, is related to crigler-najjar syndrome, type ii and hepatitis b, and has symptoms including jaundice, unconjugated hyperbilirubinemia and icterus. An important gene associated with Gilbert Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and skin, and related phenotype is Increased shRNA abundance (Z-score > 2).

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.

NIH Rare Diseases : 50 gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. gilbert syndrome typically doesn't require treatment or pose serious complications. in fact, gilbert syndrome is usually not considered a disease because of its benign nature. many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. more males than females have been diagnosed with gilbert syndrome. this condition is caused by mutations in the ugt1a1 gene and is inherited in an autosomal recessive pattern. last updated: 3/15/2016

UniProtKB/Swiss-Prot : 66 Gilbert syndrome: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia : 71 Gilbert\'s syndrome (GS) is a common genetic liver disorder found in 3-12% of the... 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 52)
id Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 29.3 UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 hepatitis b 29.0 G6PD HP NT5C3A
3 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.0
4 crigler-najjar syndrome, type i 10.9
5 congenital nonhemolytic jaundice 10.9
6 punctate epithelial keratoconjunctivitis 10.1 UGT1A1 UGT1A6
7 kernicterus 10.1
8 neutropenia, severe congenital 2, autosomal dominant 10.1 UGT1A1 UGT1A6
9 endocrine pancreas disease 10.1 UGT1A3 UGT1A4
10 nodular degeneration of cornea 10.1 G6PD NT5C3A
11 borderline leprosy 10.0 UGT1A1 UGT1A6
12 abacavir toxicity 10.0 SLCO1B1 UGT1A1 UGT1A7
13 hereditary spherocytosis 10.0
14 fetal hemoglobin quantitative trait locus 1 10.0 G6PD UGT1A1 UGT1A6
15 glandular cystitis 10.0 G6PD SLCO1B1 UGT1A1
16 cerebral artery occlusion 10.0 SLCO1B1 UGT1A1 UGT1A6
17 tk2-related mitochondrial dna depletion syndrome, myopathic form 10.0 G6PD UGT1A1
18 microphthalmia, syndromic 13 9.9 G6PD HP
19 toxic labyrinthitis 9.9 G6PD HP
20 larynx sarcoma 9.9 HP UGT1A1
21 hyperbilirubinemia, familial transient neonatal 9.9 UGT1A1 UGT1A4 UGT1A6 UGT1A9
22 setariasis 9.9 G6PD HP
23 meningeal melanocytoma 9.9 G6PD HP
24 pyloric stenosis 9.8
25 thalassemia 9.8
26 hypertrophic pyloric stenosis 9.8
27 renal artery disease 9.8 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
28 neonatal jaundice 9.7
29 cholelithiasis 9.7
30 endometriosis of uterus 9.7 G6PD HP SLCO1B1 UGT1A1
31 autistic disorder 9.6
32 hemolytic anemia 9.6
33 hepatitis 9.6
34 hemoglobinopathy 9.6
35 ischemic heart disease 9.6
36 leukemia 9.6
37 intellectual disability 9.6
38 endotheliitis 9.6
39 breast cancer 9.6
40 ulcerative colitis 9.6
41 colitis 9.6
42 scoliosis 9.6
43 aplastic anemia 9.6
44 cystic fibrosis 9.6
45 lymphoblastic leukemia 9.6
46 factor vii deficiency 9.6
47 heart disease 9.6
48 kawasaki disease 9.6
49 choledocholithiasis 9.6
50 hemochromatosis 9.6

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



Diseases related to Gilbert Syndrome

Symptoms & Phenotypes for Gilbert Syndrome

Symptoms by clinical synopsis from OMIM:

143500

Clinical features from OMIM:

143500

Human phenotypes related to Gilbert Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 unconjugated hyperbilirubinemia 32 HP:0008282

UMLS symptoms related to Gilbert Syndrome:


icterus

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 NT5C3A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.87 NT5C3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.87 NT5C3A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.87 UGT1A3 UGT1A4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.87 NT5C3A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.87 UGT1A7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 UGT1A4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.87 UGT1A7 UGT1A3 NT5C3A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.87 NT5C3A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.87 NT5C3A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.87 UGT1A7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.87 NT5C3A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.87 UGT1A3 UGT1A7 UGT1A4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.87 UGT1A3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.87 NT5C3A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.87 UGT1A7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.87 UGT1A7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.87 UGT1A7
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 NT5C3A

Drugs & Therapeutics for Gilbert Syndrome

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

(show top 50) (show all 564)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 4,Phase 3 58-18-4 6010
2
Testosterone Approved, Investigational Phase 4,Phase 3 58-22-0 6013
3
Ranibizumab Approved Phase 4,Phase 3,Phase 2 347396-82-1 459903
4
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
5
Zinc Approved Phase 4,Phase 3 7440-66-6 32051 23994
6 Zinc sulfate Approved Phase 4 7733-02-0
7
Celecoxib Approved, Investigational Phase 4,Phase 3 169590-42-5 2662
8
Ibuprofen Approved Phase 4 15687-27-1 3672
9
Naproxen Approved, Vet_approved Phase 4,Phase 3,Phase 2 22204-53-1 1302 156391
10
Dopamine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
11
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
12
Everolimus Approved Phase 4,Phase 3,Phase 1,Phase 2 159351-69-6 6442177
13
Paclitaxel Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 33069-62-4 36314
14
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
15
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
16
Nicotine Approved Phase 4 54-11-5 942 89594
17
Armodafinil Approved, Investigational Phase 4,Phase 3 112111-43-0
18
Modafinil Approved, Investigational Phase 4,Phase 3 68693-11-8 4236
19
Sumatriptan Approved, Investigational Phase 4,Phase 3 103628-46-2 5358
20
Certolizumab pegol Approved Phase 4 428863-50-7
21
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
22
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
23
Diphenhydramine Approved Phase 4 58-73-1, 147-24-0 3100
24
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
25
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
26
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
27
Promethazine Approved Phase 4 60-87-7 4927
28
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1 174722-31-7 10201696
29
Carvedilol Approved, Investigational Phase 4,Phase 3 72956-09-3 2585
30
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
31
Terbutaline Approved Phase 4 23031-25-6 5403
32
Adalimumab Approved Phase 4,Phase 3 331731-18-1 16219006
33
Tofacitinib Approved, Investigational Phase 4,Phase 3,Phase 2 477600-75-2
34
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
35
Fesoterodine Approved Phase 4,Phase 3 286930-02-7, 286930-03-8 6918558
36
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
37
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
38
Omalizumab Approved, Investigational Phase 4 242138-07-4
39
Dimethyl fumarate Approved, Investigational Phase 4,Phase 3,Phase 2 624-49-7 637568 5271565
40
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
41
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
42
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
43
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
44
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
45
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
47
Maleic acid Experimental Phase 4 110-16-7 444266
48 Anabolic Agents Phase 4,Phase 3
49 Androgens Phase 4,Phase 3
50 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 549)
id Name Status NCT ID Phase
1 Efficacy of Selective Laser Trabeculoplasty in Patients Under Treatment With Topical Prostaglandines Unknown status NCT01467440 Phase 4
2 Open-label, Follow-up Study of Oral Testosterone Undecanoate in Hypogonadal Men Unknown status NCT01699178 Phase 4
3 Multidisciplinary and Coordinated Follow-up Based on a Telemonitoring Web Platform for Improving CPAP Compliance in Low Cardiovascular Risk Sleep Apnea Patients : OPTISAS 1 Study Unknown status NCT01796769 Phase 4
4 Blood Pressure Reduction Induced by CPAP in Sleep Apnea Patients at High Cardiovascular Risk : OPTISAS 2 Study Unknown status NCT01505959 Phase 4
5 Atazanavir/Ritonavir and Zinc Pharmacokinetic Study Completed NCT01475227 Phase 4
6 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4
7 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
8 Study to Evaluate the Efficacy of Rotigotine on Parkinson's Disease-Associated Pain Completed NCT01744496 Phase 4
9 The Dual Antiplatelet Therapy Study (DAPT Study) Completed NCT00977938 Phase 4
10 Nicotine Replacement Therapy (NRT) and Bupropion Mechanisms of Effectiveness in Smokers Completed NCT01048944 Phase 4
11 Nicotine Patch for Marijuana Withdrawal Completed NCT01400243 Phase 4
12 Efficacy and Safety of Armodafinil for Adults With Excessive Sleepiness Obstructive Sleep Apnea/Hypopnea and Depression Completed NCT00518986 Phase 4
13 TAXUS ARRIVE: TAXUS Peri-Approval Registry: A Multi-Center Safety Surveillance Program Completed NCT00569491 Phase 4
14 A Study to Determine the Effect of Sumatriptan and Naproxen Sodium Combination Tablet, Sumatriptan Tablet, and Naproxen Sodium Tablet on Blood Pressure When Treating Migraine Headaches That Occur During a 6-month Period Completed NCT00792636 Phase 4
15 Dosing Flexibility Study in Patients With Rheumatoid Arthritis Completed NCT00580840 Phase 4
16 A Study on The Safety of Administering Rituximab at A More Rapid Rate in Patients With Rheumatoid Arthritis Completed NCT01382940 Phase 4
17 Renal Safety Evaluation After Dotarem®-Enhanced MRI Completed NCT00650845 Phase 4
18 Pharmacodynamic Study of Carvedilol Versus Metoprolol in Heart Failure Completed NCT00802230 Phase 4
19 An Efficacy And Safety Study Evaluating Tofacitinib With And Without Methotrexate Compared To Adalimumab With Methotrexate Completed NCT02187055 Phase 4
20 A Study of Ibandronate (Boniva) to Evaluate Satisfaction in Women With Post-Menopausal Osteoporosis or Osteopenia Completed NCT02604836 Phase 4
21 Efficacy of SLT in Patients With Insufficient IOP Control Under Maximum Tolerated Drug Therapy (Eye Drops) Completed NCT00801658 Phase 4
22 A Study of the Safety of Rituxan in Patients With Rheumatoid Arthritis After an Inadequate Response to Previous Anti-TNF Therapy (SUNSTONE) Completed NCT00443443 Phase 4
23 A Clinical Study in Patients With Overactive Bladder With Leakage of Urine, to Find Out if the Medicine, Fesoterodine, Works in Those Patients Who Did Not Have Enough Response to the Medicine, Tolterodine. Completed NCT01302054 Phase 4
24 A Study to Evaluate Psoriasis Outcomes and Safety Events in Patients With Chronic Moderate to Severe Plaque Psoriasis (RESPONSE) Completed NCT00096928 Phase 4
25 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
26 A Type 2 Diabetes Study of the Longer-Term Glycemic Effect of AVANDAMET vs. Metformin Completed NCT00386100 Phase 4
27 A Study in Participants With Asthma Initiating Treatment With Omalizumab (Xolair) Completed NCT01922037 Phase 4
28 Phase 4 Gastrointestinal Tolerability Study of Dimethyl Fumarate in Patients With Relapsing Forms of Multiple Sclerosis in the United States Completed NCT01873417 Phase 4
29 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Recruiting NCT02472509 Phase 4
30 PDE5 Inhibitor Use and Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Recruiting NCT00867815 Phase 4
31 Methotrexate Withdrawal Study of Tofacitinib Modified Release Formulation in Subjects With Rheumatoid Arthritis Recruiting NCT02831855 Phase 4
32 Pulse Reduction On Beta-blocker and Ivabradine Therapy Recruiting NCT02973594 Phase 4
33 Phase 4, Controlled Study in Adult Subjects Undergoing Primary, 1-2 Level, Open Lumbar Spinal Fusion Surgery Recruiting NCT03015961 Phase 4
34 Effect of Ranolazine on Activity Level in Patients With Angina After FFR Based Deferred Intervention (REPTAR) Recruiting NCT03044964 Phase 4
35 Long-term Safety, Curvature Deformity Characterization, and Immunogenicity Over Time in Subjects Previously Treated With AA4500 for Peyronies Disease Active, not recruiting NCT02298829 Phase 4
36 Impact of Home Monitoring to Decrease the Treatment Burden for Neovascular Age-related Macular Degeneration (AMD) Active, not recruiting NCT01863199 Phase 4
37 A Comparative Efficacy Study: Treatment for Non-healing Diabetic Foot Ulcers Terminated NCT01858545 Phase 4
38 Assessment and Tracking of Long-term Alefacept Safety Terminated NCT00454701 Phase 4
39 CATCH - Catheter Infections in Children Unknown status NCT01029717 Phase 3
40 A Comparison of the dermaPACE® (Pulsed Acoustic Cellular Expression) Device in Conjunction With Standard of Care Versus Standard of Care Alone in the Treatment of Diabetic Foot Ulcers Unknown status NCT01824407 Phase 3
41 Comparative Efficacy, Safety, and Tolerability of Rivastigmine 10 and 15 cm^2 Patch in Patients With Alzheimer's Disease (AD) Showing Cognitive Decline Completed NCT00506415 Phase 3
42 A Study of the Safety and Efficacy of Pimavanserin (ACP-103) in Patients With Parkinson's Disease Psychosis Completed NCT00477672 Phase 3
43 Trial to Assess Parkinson's Disease (PD) Symptom Control to Four Doses of Rotigotine in a Transdermal Patch Completed NCT00522379 Phase 3
44 A Study of the Safety and Efficacy of Pimavanserin in Patients With Parkinson's Disease Psychosis Completed NCT01174004 Phase 3
45 Efficacy, Safety, Tolerability of Pramipexol ER Versus Pramipexol IR Versus Placebo in Early PD Patients Completed NCT00479401 Phase 3
46 A Two Part Study (306A/306B) to Assess Droxidopa in Treatment of NOH in Patients With Parkinson's Disease Completed NCT01176240 Phase 3
47 Study of AA4500 in the Treatment of Peyronie's Disease Completed NCT01221623 Phase 3
48 A Study on The Potential of Aleglitazar to Reduce Cardiovascular Risk in Patients With Stable Cardiovascular Disease and Glucose Abnormalities Completed NCT01715818 Phase 3
49 Comparison of Combination Chemotherapy Regimens With or Without Cetuximab in Treating Patients Who Have Undergone Surgery For Stage III Colon Cancer Completed NCT00079274 Phase 3
50 Sunitinib Malate or Sorafenib Tosylate in Treating Patients With Kidney Cancer That Was Removed By Surgery Completed NCT00326898 Phase 3

Search NIH Clinical Center for Gilbert Syndrome

Cochrane evidence based reviews: gilbert disease

Genetic Tests for Gilbert Syndrome

Genetic tests related to Gilbert Syndrome:

id Genetic test Affiliating Genes
1 Gilbert's Syndrome 29
2 Gilbert Syndrome, Susceptibility to 29
3 Gilbert Syndrome 24 UGT1A1

Anatomical Context for Gilbert Syndrome

MalaCards organs/tissues related to Gilbert Syndrome:

39
Liver, Testes, Skin, Eye, Heart, Endothelial, Breast

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 93)
id Title Authors Year
1
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
2
Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. ( 28397734 )
2017
3
Frequency of the UGT1A1*28 Polymorphism in a Romanian Cohort of Gilbert Syndrome Individuals. ( 28338110 )
2017
4
Gilbert syndrome in patients with type 1 diabetes-Prevalence, glycemic control, and microalbuminuria. ( 28093842 )
2017
5
Effectiveness of switching from oral ziprasidone to risperidone in a patient with comorbid autistic disorder, profound intellectual disability, Gilbert syndrome, and exacerbation of psychosis. ( 26938829 )
2016
6
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
7
Donor Safety and Recipient Liver Function After Right-Lobe Liver Transplantation From Living Donors With Gilbert Syndrome. ( 26707296 )
2015
8
Scoliosis in a Patient With Gilbert Syndrome: A Case Report and Review of the Literature. ( 26632744 )
2015
9
Protective effect of elevated bilirubin levels on cardiovascular disease in patients with Gilbert syndrome. ( 26536982 )
2015
10
Evaluation of aortic stiffness in Gilbert syndrome patients: a protective effect of elevated bilirubin levels. ( 26536984 )
2015
11
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
12
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
13
Patterns and genetic polymorphisms in unconjugated hyperbilirubinemia (gilbert syndrome). ( 25646240 )
2015
14
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening. ( 25855413 )
2015
15
Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice. ( 25587528 )
2014
16
Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients. ( 24620945 )
2014
17
Pregnancy with gilbert syndrome - a case report. ( 25121033 )
2014
18
Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. ( 24783083 )
2014
19
Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population. ( 25262077 )
2014
20
Gilbert syndrome. ( 22160004 )
2012
21
Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation. ( 22213127 )
2012
22
Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis. ( 22134611 )
2012
23
Hyperbilirubinemia, augmentation of endothelial function, and decrease in oxidative stress in Gilbert syndrome. ( 22773454 )
2012
24
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. ( 22325916 )
2012
25
Severe jaundice in two children with Kawasaki disease: a possible association with Gilbert syndrome. ( 22219623 )
2012
26
Gilbert syndrome: the UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism. ( 22448797 )
2012
27
Association of a glucose-6-phosphate deficiency and a Gilbert syndrome as risk factors for a severe choledocholithiasis in a 2-month-old male infant. ( 21793186 )
2012
28
Reduced circulating oxidized LDL is associated with hypocholesterolemia and enhanced thiol status in Gilbert syndrome. ( 22521902 )
2012
29
Right-lobe liver transplant from donors with Gilbert syndrome. ( 22309418 )
2012
30
Coexistence of Gilbert syndrome with hereditary haemolytic anaemias. ( 22554963 )
2012
31
Is Gilbert syndrome a new risk factor for breast cancer? ( 21636218 )
2011
32
Snapback primer genotyping of the Gilbert syndrome UGT1A1 (TA)(n) promoter polymorphism by high-resolution melting. ( 21771946 )
2011
33
Genetic variation in UGT1A1 typical of Gilbert syndrome is associated with unconjugated hyperbilirubinemia in patients receiving tocilizumab. ( 21412181 )
2011
34
Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis. ( 21633730 )
2011
35
Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia. ( 21403409 )
2011
36
Gilbert syndrome in Iran, Fars Province. ( 20103965 )
2010
37
Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome. ( 20529348 )
2010
38
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population. ( 19309288 )
2009
39
Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin. ( 18343383 )
2008
40
''Iatrogenic Gilbert syndrome''--a strategy for reducing vascular and cancer risk by increasing plasma unconjugated bilirubin. ( 17825497 )
2007
41
Urinary excretion of oxidative metabolites of bilirubin in subjects with Gilbert syndrome. ( 17565639 )
2007
42
Gilbert syndrome presenting in a young boy, confirmed by the rifampin test. ( 17877076 )
2007
43
Relationship between Gilbert syndrome and prevalence of vascular complications in patients with diabetes. ( 17895455 )
2007
44
Gilbert syndrome in the newborn. ( 17990369 )
2007
45
Severe hyperbilirubinemia in a 10-year-old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome. ( 17587286 )
2007
46
Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. ( 16557566 )
2006
47
Liver transplantation using donors with Gilbert syndrome. ( 16858293 )
2006
48
Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome. ( 17105600 )
2006
49
Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia: genetic screening is unnecessary. ( 16652295 )
2006
50
Gilbert syndrome as differential diagnosis of hyperbilirubinemia in acquired aplastic anemia. ( 15459961 )
2005

Variations for Gilbert Syndrome

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

66
id 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

ClinVar genetic disease variations for Gilbert Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh37 Chromosome 2, 234676519: 234676519
2 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh37 Chromosome 2, 234669144: 234669144
3 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh37 Chromosome 2, 234676979: 234676979

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 GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 G6PD NT5C3A SLCO1B1 UGT1A1 UGT1A3 UGT1A4
2
Show member pathways
13.03 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
3
Show member pathways
12.57 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
4
Show member pathways
12.41 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
5 12.41 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
6 11.86 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
7
Show member pathways
11.77 SLCO1B1 UGT1A1 UGT1A3 UGT1A9
8
Show member pathways
11.75 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
9
Show member pathways
11.62 UGT1A1 UGT1A3 UGT1A4 UGT1A7 UGT1A9
10
Show member pathways
11.57 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11
Show member pathways
11.54 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
12
Show member pathways
11.44 SLCO1B1 UGT1A1
13
Show member pathways
11.3 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
14 11.22 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
15 11.11 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
16 11.1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
17
Show member pathways
10.96 SLCO1B1 UGT1A1
18
Show member pathways
10.91 SLCO1B1 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
19
Show member pathways
10.77 UGT1A4 UGT1A9

GO Terms for Gilbert Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.63 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
2 endoplasmic reticulum GO:0005783 9.5 NT5C3A UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 intracellular membrane-bounded organelle GO:0043231 9.17 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.85 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
2 retinoic acid metabolic process GO:0042573 9.56 UGT1A1 UGT1A3 UGT1A7 UGT1A9
3 flavone metabolic process GO:0051552 9.5 UGT1A1 UGT1A7 UGT1A9
4 acute-phase response GO:0006953 9.48 HP UGT1A1
5 drug metabolic process GO:0017144 9.46 UGT1A1 UGT1A7
6 flavonoid glucuronidation GO:0052696 9.46 UGT1A1 UGT1A3 UGT1A7 UGT1A9
7 heme catabolic process GO:0042167 9.43 UGT1A1 UGT1A4
8 cellular glucuronidation GO:0052695 9.43 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
9 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
10 xenobiotic glucuronidation GO:0052697 9.1 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.95 NT5C3A UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 protein homodimerization activity GO:0042803 9.87 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 protein heterodimerization activity GO:0046982 9.85 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.73 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.63 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
6 enzyme inhibitor activity GO:0004857 9.43 UGT1A1 UGT1A7
7 glucuronosyltransferase activity GO:0015020 9.43 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
8 retinoic acid binding GO:0001972 9.1 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9

Sources for Gilbert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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