GILBS
MCID: GLB001
MIFTS: 57

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 58 12 54 26 76 38 15 17
Gilbert's Syndrome 12 77 26 30 6 41
Gilbert's Disease 12 54 26
Gilbert Disease 26 45 74
Gilbert Syndrome, Susceptibility to 30 6
Hyperbilirubinemia, Gilbert Type; Hblrg 58
Constitutional Hyperbilirubinemia 12
Unconjugated Benign Bilirubinemia 26
Hyperbilirubinemia, Gilbert Type 58
Hereditary Nonhemolytic Jaundice 12
Constitutional Liver Dysfunction 26
Hyperbilirubinemia, Arias Type 58
Familial Nonhemolytic Jaundice 26
Gilbert-Meulengracht Syndrome 12
Hyperbilirubinemia Arias Type 54
Gilbert-Lereboullet Syndrome 26
Hyperbilirubinemia Type 1 54
Meulengracht Syndrome 26
Hyperbilirubinemia I 58
Hyperbilirubinemia 1 26
Cholemia, Familial 54
Gilberts Syndrome 56
Hblrg 58
Gilbs 76

Characteristics:

OMIM:

58
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:

33
gilbert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2739
OMIM 58 143500
KEGG 38 H02055
MeSH 45 D005878
NCIt 51 C84729
SNOMED-CT 69 27503000
ICD10 34 E80.4
MedGen 43 C0017551
UMLS 74 C0017551

Summaries for Gilbert Syndrome

NIH Rare Diseases : 54 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 bilirubin metabolic disorder and crigler-najjar syndrome, type ii. 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 have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, 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 : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 Gilbert syndrome: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia : 77 Gilbert''s syndrome (GS) is a mild liver disorder in which the liver does not properly process... 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 89)
# Related Disease Score Top Affiliating Genes
1 bilirubin metabolic disorder 30.2 G6PD UGT1A1 UGT1A6 UGT1A7
2 crigler-najjar syndrome, type ii 30.1 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 irinotecan toxicity 30.1 UGT1A1 UGT1A7
4 cholelithiasis 30.1 UGT1A1 UGT1A6
5 neonatal jaundice 30.0 G6PD UGT1A1
6 glucosephosphate dehydrogenase deficiency 29.9 G6PD UGT1A1
7 kernicterus 29.6 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
8 crigler-najjar syndrome, type i 29.6 UGT1A1 UGT1A4 UGT1A6 UGT1A9
9 sickle cell anemia 29.6 G6PD UGT1A1 UGT1A6
10 alpha-thalassemia 29.5 G6PD UGT1A1
11 bilirubin, serum level of, quantitative trait locus 1 27.4 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
12 congenital nonhemolytic jaundice 11.5
13 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.3
14 anemia, congenital dyserythropoietic, type iii 11.1
15 hyperbilirubinemia, shunt, primary 11.1
16 hereditary spherocytosis 10.3
17 schizophrenia 10.3
18 descending colon cancer 10.1 UGT1A1 UGT1A6
19 pigmentation disease 10.1 UGT1A1 UGT1A6
20 thalassemia 10.1
21 hypertrophic pyloric stenosis 10.1
22 pyloric stenosis 10.1
23 dihydropyrimidine dehydrogenase deficiency 10.1 UGT1A1 UGT1A6
24 beta-thalassemia 10.0
25 heart disease 10.0
26 familial mediterranean fever 10.0
27 liver cirrhosis 10.0
28 congenital dyserythropoietic anemia 10.0
29 cholecystitis 10.0
30 acalculous cholecystitis 10.0
31 inherited metabolic disorder 10.0 UGT1A1 UGT1A6
32 neurofibromatosis, type ii 9.9
33 breast cancer 9.9
34 autism 9.9
35 cystic fibrosis 9.9
36 factor vii deficiency 9.9
37 hemochromatosis, type 1 9.9
38 hyperbilirubinemia, transient familial neonatal 9.9
39 gallbladder disease 1 9.9
40 aplastic anemia 9.9
41 kawasaki disease 9.9
42 leukemia, acute lymphoblastic 9.9
43 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
44 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 9.9
45 alacrima, achalasia, and mental retardation syndrome 9.9
46 acute lymphocytic leukemia 9.9
47 hemolytic anemia 9.9
48 hepatitis 9.9
49 hepatitis b 9.9
50 ischemic heart disease 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:

33
# Description HPO Frequency HPO Source Accession
1 dehydration 33 HP:0001944
2 jaundice 33 HP:0000952
3 unconjugated hyperbilirubinemia 33 HP:0008282

Symptoms via clinical synopsis from OMIM:

58
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:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.5 UGT1A4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.5 UGT1A3 UGT1A4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.5 UGT1A7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 UGT1A4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 UGT1A3 UGT1A7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 UGT1A7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.5 UGT1A3 UGT1A4 UGT1A7
8 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.5 UGT1A3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.5 UGT1A7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 UGT1A7
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 UGT1A7

Drugs & Therapeutics for Gilbert Syndrome

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 27284 23925
6
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
7
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
8 Anti-HIV Agents Phase 4
9 Anti-Infective Agents Phase 4
10
protease inhibitors Phase 4
11 HIV Protease Inhibitors Phase 4
12 Cytochrome P-450 Enzyme Inhibitors Phase 4
13 Atazanavir Sulfate Phase 4
14 Dermatologic Agents Phase 4,Phase 3
15 Anti-Retroviral Agents Phase 4
16 Cytochrome P-450 CYP3A Inhibitors Phase 4
17 Trace Elements Phase 4
18 Antiviral Agents Phase 4
19
Bilirubin Phase 4 635-65-4, 69853-43-6 21252250 5280352
20 Nutrients Phase 4
21 Micronutrients Phase 4
22 Astringents Phase 4
23 alanine Phase 4
24 Gastrointestinal Agents Phase 4
25 N-Methylaspartate Phase 4
26 Cholagogues and Choleretics Phase 4
27 Aspartic Acid Phase 4
28 Liver Extracts Phase 4
29 Siderophores Phase 4
30 Iron Chelating Agents Phase 4
31 Chelating Agents Phase 4
32
leucovorin Approved Phase 3 58-05-9 143 6006
33
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
35 Antimetabolites, Antineoplastic Phase 3
36 Nucleic Acid Synthesis Inhibitors Phase 3
37 Antirheumatic Agents Phase 3
38 Immunologic Factors Phase 3
39 Vitamin B9 Phase 3
40 Folate Phase 3
41 Immunosuppressive Agents Phase 3
42 Vitamin B Complex Phase 3
43 Folic Acid Antagonists Phase 3
44 Antimetabolites Phase 3
45
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 38904 498142
46
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
47
Lapatinib Approved March 2007, Investigational Phase 1, Phase 2 231277-92-2, 388082-78-8 208908 9941095
48 Antimitotic Agents Phase 1, Phase 2
49 Albumin-Bound Paclitaxel Phase 1, Phase 2
50 Protein Kinase Inhibitors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Atazanavir/Ritonavir and Zinc Pharmacokinetic Study 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 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
4 A Study to Evaluate Efficacy of Tocilizumab Administered as Monotherapy or in Combination With Methotrexate and/or Other Disease Modifying Antirheumatic Drugs (DMARDs) in Rheumatoid Arthritis (RA) Participants Completed NCT01941940 Phase 3 Tocilizumab;DMARDs
5 Lapatinib With Carboplatin and Paclitaxel in Esophagus and Gastroesophageal Junction (GEJ) Terminated NCT01395537 Phase 1, Phase 2 Carboplatin AUC;Paclitaxel;lapatinib
6 Study Of White Blood Cells In The Cerebrospinal Fluid And Blood Of Patients With Relapsing Forms Of Multiple Sclerosis Completed NCT00469378 Phase 2 firategrast
7 Safety, Tolerability and Pharmacokinetics of Multiple Rising Doses of BI 201335 NA in Healthy Male Subjects Completed NCT02182362 Phase 1 BI 201335 NA;Placebo
8 Biomarker for Gilbert Disease (BioGilbert) Recruiting NCT02712138
9 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia Completed NCT00383318

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 30 UGT1A1
2 Gilbert Syndrome, Susceptibility to 30

Anatomical Context for Gilbert Syndrome

MalaCards organs/tissues related to Gilbert Syndrome:

42
Liver, Skin, Testes, Eye, Heart, Bone, Breast

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 436)
# Title Authors Year
1
SIGNIFICANT REDUCTION IN BILIRUBIN LEVELS IN A PATIENT WITH GILBERT SYNDROME UNDER ISOTRETINOIN TREATMENT FOR ACNE VULGARIS: A NEW AREA OF USE FOR ISOTRETINOIN? ( 30920103 )
2019
2
Study of Gilbert's Syndrome-Associated UGT1A1 Polymorphism in Jaundiced Neonates of ABO Incompatibility Hemolysis Disease. ( 31087315 )
2019
3
Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert's syndrome. ( 31017737 )
2019
4
Postoperative hyperbilirubinemia and Gilbert's syndrome in patients undergoing cardiac surgery. ( 30971605 )
2019
5
The frequency, clinical course, and health related quality of life in adults with Gilbert's syndrome: a longitudinal study. ( 30717703 )
2019
6
Overview of Gilbert's syndrome. ( 30709860 )
2019
7
Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome. ( 30701931 )
2018
8
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. ( 29200157 )
2018
9
Gilbert syndrome combined with prolonged jaundice caused by contrast agent: Case report. ( 29632429 )
2018
10
Incidence and Risk of Gallstone Disease in Gilbert's Syndrome Patients in Indian Population. ( 30563996 )
2018
11
Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India. ( 30105552 )
2018
12
Celiac Disease in Association with Gilbert's Syndrome. ( 29637464 )
2018
13
Diagnostic criteria and contributors to Gilbert's syndrome. ( 29390925 )
2018
14
Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert's Syndrome. ( 28592168 )
2017
15
Gilbert syndrome in patients with type 1 diabetes-Prevalence, glycemic control, and microalbuminuria. ( 28093842 )
2017
16
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
17
Frequency of the UGT1A1*28 Polymorphism in a Romanian Cohort of Gilbert Syndrome Individuals. ( 28338110 )
2017
18
Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. ( 28397734 )
2017
19
Oncology Drug Dosing in Gilbert Syndrome Associated with UGT1A1: A Summary of the Literature. ( 28494109 )
2017
20
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095 )
2017
21
A Case of Acquired Gilbert's Syndrome. ( 27681308 )
2017
22
Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test. ( 27866642 )
2017
23
The Association between Prolonged Jaundice and TATA Box Dinucleotide Repeats in Gilbert's Syndrome. ( 29207733 )
2017
24
Mildly elevated unconjugated bilirubin is associated with reduced platelet activation-related thrombogenesis and inflammation in Gilbert's syndrome. ( 28300459 )
2017
25
Anesthetic management of a case of Gilbert's syndrome for mitral and aortic valve replacement: Role of transesophageal echocardiography. ( 28217062 )
2017
26
Mice with hyperbilirubinemia due to Gilbert's syndrome polymorphism are resistant to hepatic steatosis by decreased serine 73 phosphorylation of PPARα. ( 28096081 )
2017
27
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
28
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2016
29
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
30
Three-dimensional polyacrylamide gel-based DNA microarray method effectively identifies UDP-glucuronosyltransferase 1A1 gene polymorphisms for the correct diagnosis of Gilbert's syndrome. ( 26781906 )
2016
31
Longer telomeres in chronic, moderate, unconjugated hyperbilirubinaemia: insights from a human study on Gilbert's Syndrome. ( 26926838 )
2016
32
Gilbert's syndrome in healthy blood donors what next?? ( 27011673 )
2016
33
Letter: should HCV cirrhotics with high bilirubin or Gilbert's syndrome be excluded from paritaprevir, ombitasvir, or dasabuvir? ( 27040170 )
2016
34
Letter: should HCV cirrhotics with high bilirubin or Gilbert's syndrome be excluded from paritaprevir, ombitasvir, or dasabuvir? Authors' reply. ( 27040171 )
2016
35
Features of an altered AMPK metabolic pathway in Gilbert's Syndrome, and its role in metabolic health. ( 27444220 )
2016
36
Relation between unconjugated bilirubin and RDW, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio in Gilbert's syndrome. ( 27610311 )
2016
37
Gilbert's syndrome in haemopoietic cell transplantation. ( 27968817 )
2016
38
Mortality outcomes after busulfan-containing conditioning treatment and haemopoietic cell transplantation in patients with Gilbert's syndrome: a retrospective cohort study. ( 27968820 )
2016
39
FEATURES OF GILBERT'S SYNDROME IN PATIENTS WITH DIFFERENT GENOTYPES UGT1AI. ( 29889392 )
2016
40
The Association between Prolonged Jaundice and UGT1A1 Gene Polymorphism (G71R) in Gilbert's Syndrome. ( 28050400 )
2016
41
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening. ( 25855413 )
2015
42
Gilbert syndrome acts as a risk factor of developing gallstone among β hemoglobinopathy Tunisian patients. ( 26375741 )
2015
43
Protective effect of elevated bilirubin levels on cardiovascular disease in patients with Gilbert syndrome. ( 26536982 )
2015
44
Evaluation of aortic stiffness in Gilbert syndrome patients: a protective effect of elevated bilirubin levels. ( 26536984 )
2015
45
Scoliosis in a Patient With Gilbert Syndrome: A Case Report and Review of the Literature. ( 26632744 )
2015
46
Donor Safety and Recipient Liver Function After Right-Lobe Liver Transplantation From Living Donors With Gilbert Syndrome. ( 26707296 )
2015
47
Anomalous pulmonary venous connection and Gilbert's syndrome. ( 25454326 )
2015
48
Bilirubin, platelet activation and heart disease: a missing link to cardiovascular protection in Gilbert's syndrome? ( 25576848 )
2015
49
Restriction fragment length polymorphism effectively identifies exon 1 mutation of UGT1A1 gene in patients with Gilbert's Syndrome. ( 25611851 )
2015
50
Influence of Gilbert's syndrome on the formation of ethyl glucuronide. ( 25680552 )
2015

Variations for Gilbert Syndrome

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

76
# 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 (show all 44)
# 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 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh38 Chromosome 2, 233767873: 233767873
3 UGT1A1 NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, other rs35350960 GRCh37 Chromosome 2, 234669619: 234669619
4 UGT1A1 NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, other rs35350960 GRCh38 Chromosome 2, 233760973: 233760973
5 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh37 Chromosome 2, 234668881: 234668881
6 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh38 Chromosome 2, 233760235: 233760235
7 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh37 Chromosome 2, 234669144: 234669144
8 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh38 Chromosome 2, 233760498: 233760498
9 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
10 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 GRCh38 Chromosome 2, 233772413: 233772413
11 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh37 Chromosome 2, 234676979: 234676979
12 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh38 Chromosome 2, 233768333: 233768333
13 UGT1A; UGT1A1; UGT1A10; UGT1A3; UGT1A4; UGT1A5; UGT1A6; UGT1A7; UGT1A8; UGT1A9 NM_001072.3(UGT1A6): c.862-10021T> G single nucleotide variant Benign rs4124874 GRCh37 Chromosome 2, 234665659: 234665659
14 UGT1A; UGT1A1; UGT1A10; UGT1A3; UGT1A4; UGT1A5; UGT1A6; UGT1A7; UGT1A8; UGT1A9 NM_001072.3(UGT1A6): c.862-10021T> G single nucleotide variant Benign rs4124874 GRCh38 Chromosome 2, 233757013: 233757013
15 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
16 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
17 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
18 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
19 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh37 Chromosome 2, 234676903: 234676903
20 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh38 Chromosome 2, 233768257: 233768257
21 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 GRCh38 Chromosome 2, 233768226: 233768226
22 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 GRCh37 Chromosome 2, 234676872: 234676872
23 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 GRCh37 Chromosome 2, 234680927: 234680927
24 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 GRCh38 Chromosome 2, 233772281: 233772281
25 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh38 Chromosome 2, 233772770: 233772770
26 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh37 Chromosome 2, 234681416: 234681416
27 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh38 Chromosome 2, 233773144: 233773144
28 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh37 Chromosome 2, 234681790: 234681790
29 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh38 Chromosome 2, 233760581: 233760581
30 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh37 Chromosome 2, 234669227: 234669227
31 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh38 Chromosome 2, 233760587: 233760587
32 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh37 Chromosome 2, 234669233: 234669233
33 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh38 Chromosome 2, 233760764: 233760764
34 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh37 Chromosome 2, 234669410: 234669410
35 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh38 Chromosome 2, 233772279: 233772279
36 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh37 Chromosome 2, 234680925: 234680925
37 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh38 Chromosome 2, 233772898: 233772898
38 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh37 Chromosome 2, 234681544: 234681544
39 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh38 Chromosome 2, 233772760: 233772760
40 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh37 Chromosome 2, 234681406: 234681406
41 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh38 Chromosome 2, 233772999: 233772999
42 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh37 Chromosome 2, 234681645: 234681645
43 UGT1A1 NM_000463.2(UGT1A1): c.1207C> T (p.Arg403Cys) single nucleotide variant Uncertain significance rs778766461 GRCh37 Chromosome 2, 234676988: 234676988
44 UGT1A1 NM_000463.2(UGT1A1): c.1207C> T (p.Arg403Cys) single nucleotide variant Uncertain significance rs778766461 GRCh38 Chromosome 2, 233768342: 233768342

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:

38
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
2
Show member pathways
13.1 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3
Show member pathways
12.79 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
4 12.3 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
5
Show member pathways
12.28 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
6 12.14 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
7
Show member pathways
11.79 UGT1A1 UGT1A3 UGT1A9
8
Show member pathways
11.7 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8
9
Show member pathways
11.69 UGT1A3 UGT1A4
10
Show member pathways
11.63 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11 11.56 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
12
Show member pathways
11.4 UGT1A10 UGT1A3 UGT1A4 UGT1A8
13 11.38 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
14
Show member pathways
11.38 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
15
Show member pathways
11.38 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
16 10.86 UGT1A3 UGT1A4 UGT1A9
17 10.42 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9

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 9.92 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 membrane GO:0016020 9.91 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
3 endoplasmic reticulum GO:0005783 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
4 endoplasmic reticulum membrane GO:0005789 9.56 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
5 intracellular membrane-bounded organelle GO:0043231 9.28 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 flavonoid glucuronidation GO:0052696 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 retinoic acid metabolic process GO:0042573 9.72 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
3 flavone metabolic process GO:0051552 9.65 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
4 negative regulation of catalytic activity GO:0043086 9.61 UGT1A1 UGT1A7 UGT1A8
5 xenobiotic glucuronidation GO:0052697 9.56 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
6 xenobiotic metabolic process GO:0006805 9.51 UGT1A6 UGT1A9
7 drug metabolic process GO:0017144 9.49 UGT1A1 UGT1A7
8 coumarin metabolic process GO:0009804 9.48 UGT1A7 UGT1A8
9 heme catabolic process GO:0042167 9.46 UGT1A1 UGT1A4
10 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
11 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
12 cellular glucuronidation GO:0052695 9.17 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.92 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 glucuronosyltransferase activity GO:0015020 9.86 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 retinoic acid binding GO:0001972 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
4 enzyme inhibitor activity GO:0004857 9.63 UGT1A1 UGT1A7 UGT1A8
5 transferase activity, transferring hexosyl groups GO:0016758 9.56 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
6 protein kinase C binding GO:0005080 9.49 UGT1A10 UGT1A7
7 steroid binding GO:0005496 9.48 UGT1A1 UGT1A8
8 UDP-glycosyltransferase activity GO:0008194 9.23 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
9 transferase activity GO:0016740 10.03 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
10 protein homodimerization activity GO:0042803 10.02 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
11 protein heterodimerization activity GO:0046982 10.01 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

Sources for Gilbert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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