MCID: GLB001
MIFTS: 56

Gilbert Syndrome

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

Aliases & Classifications for Gilbert Syndrome

MalaCards integrated aliases for Gilbert Syndrome:

Name: Gilbert Syndrome 57 12 53 25 75 37 15
Gilbert's Syndrome 12 76 25 29 6 40
Gilbert's Disease 12 53 25
Gilbert Disease 25 44 73
Gilbert Syndrome, Susceptibility to 29 6
Hyperbilirubinemia, Gilbert Type; Hblrg 57
Constitutional Hyperbilirubinemia 12
Unconjugated Benign Bilirubinemia 25
Hyperbilirubinemia, Gilbert Type 57
Hereditary Nonhemolytic Jaundice 12
Constitutional Liver Dysfunction 25
Hyperbilirubinemia, Arias Type 57
Familial Nonhemolytic Jaundice 25
Gilbert-Meulengracht Syndrome 12
Hyperbilirubinemia Arias Type 53
Gilbert-Lereboullet Syndrome 25
Hyperbilirubinemia Type 1 53
Meulengracht Syndrome 25
Hyperbilirubinemia I 57
Hyperbilirubinemia 1 25
Cholemia, Familial 53
Gilberts Syndrome 55
Hblrg 57
Gilbs 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
gilbert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 143500
Disease Ontology 12 DOID:2739
ICD10 33 E80.4
MeSH 44 D005878
NCIt 50 C84729
MedGen 42 C0017551
KEGG 37 H02055
SNOMED-CT via HPO 69 258211005 18165001 7752002
UMLS 73 C0017551

Summaries for Gilbert Syndrome

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.

MalaCards based summary : Gilbert Syndrome, also known as gilbert's syndrome, is related to cholelithiasis and crigler-najjar syndrome, type i. 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 eye, and related phenotypes are jaundice and unconjugated hyperbilirubinemia

OMIM : 57 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (218800), and Crigler-Najjar syndrome type II (606785); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300). Detailed studies show that patients with Gilbert syndrome have reduced activity of bilirubin glucuronosyltransferase (Bosma et al., 1995, Koiwai et al., 1995). (143500)

UniProtKB/Swiss-Prot : 75 Gilbert syndrome: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 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 all 49)
# Related Disease Score Top Affiliating Genes
1 cholelithiasis 29.9 UGT1A1 UGT1A6
2 crigler-najjar syndrome, type i 29.1 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 neonatal jaundice 28.5 G6PD SLCO1B1 UGT1A1
4 kernicterus 28.3 G6PD UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 crigler-najjar syndrome, type ii 25.7 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
6 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.1
7 congenital nonhemolytic jaundice 11.0
8 anemia, congenital dyserythropoietic, type iii 10.9
9 hyperbilirubinemia, shunt, primary 10.9
10 descending colon cancer 10.2 UGT1A1 UGT1A6
11 dihydropyrimidine dehydrogenase deficiency 10.2 UGT1A1 UGT1A6
12 hereditary spherocytosis 10.1
13 sickle cell anemia 10.0 UGT1A1 UGT1A6
14 thalassemia 9.9
15 hypertrophic pyloric stenosis 9.9
16 pyloric stenosis 9.9
17 irinotecan toxicity 9.8 SLCO1B1 UGT1A1 UGT1A7
18 beta-thalassemia 9.8
19 inherited metabolic disorder 9.7 UGT1A1 UGT1A6
20 pigmentation disease 9.7 SLCO1B1 UGT1A1 UGT1A6
21 autism 9.7
22 cystic fibrosis 9.7
23 factor vii deficiency 9.7
24 hemochromatosis, type 1 9.7
25 alpha-thalassemia 9.7
26 aplastic anemia 9.7
27 kawasaki disease 9.7
28 leukemia, acute lymphoblastic 9.7
29 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.7
30 alacrima, achalasia, and mental retardation syndrome 9.7
31 hemolytic anemia 9.7
32 hepatitis 9.7
33 hepatitis b 9.7
34 ischemic heart disease 9.7
35 leukemia 9.7
36 ulcerative colitis 9.7
37 colitis 9.7
38 scoliosis 9.7
39 lymphoblastic leukemia 9.7
40 heart disease 9.7
41 choledocholithiasis 9.7
42 gaucher's disease 9.7
43 hemoglobinopathy 9.7
44 endotheliitis 9.7
45 glucosephosphate dehydrogenase deficiency 9.2 G6PD SLCO1B1 UGT1A1
46 pericholangitis 9.0 UGT1A10 UGT1A3 UGT1A4 UGT1A8
47 acetaminophen metabolism 8.8 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A9
48 bilirubin metabolic disorder 8.4 G6PD SLCO1B1 UGT1A1 UGT1A6 UGT1A7
49 bilirubin, serum level of, quantitative trait locus 1 7.3 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

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



Diseases related to Gilbert Syndrome

Symptoms & Phenotypes for Gilbert Syndrome

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

143500

Human phenotypes related to Gilbert Syndrome:

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

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

26 (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 all 43)
# 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 23994
3
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5 Anti-HIV Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Antiviral Agents Phase 4
9 Astringents Phase 4
10 Atazanavir Sulfate Phase 4
11
Bilirubin Phase 4 635-65-4 5280352
12 Cytochrome P-450 CYP3A Inhibitors Phase 4
13 Cytochrome P-450 Enzyme Inhibitors Phase 4
14 Dermatologic Agents Phase 4,Phase 3
15 HIV Protease Inhibitors Phase 4
16 Micronutrients Phase 4
17
protease inhibitors Phase 4
18 Trace Elements Phase 4
19 Cholagogues and Choleretics Phase 4
20 Gastrointestinal Agents Phase 4
21 N-Methylaspartate Phase 4
22 alanine Nutraceutical Phase 4
23 Aspartic Acid Nutraceutical Phase 4
24
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
26
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
27 Antimetabolites Phase 3
28 Antimetabolites, Antineoplastic Phase 3
29 Antirheumatic Agents Phase 3
30 Folic Acid Antagonists Phase 3
31 Immunosuppressive Agents Phase 3
32 Nucleic Acid Synthesis Inhibitors Phase 3
33 Vitamin B Complex Phase 3
34 Folate Nutraceutical Phase 3
35 Vitamin B9 Nutraceutical Phase 3
36
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 498142 38904
37
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
38
Lapatinib Approved March 2007, Investigational Phase 1, Phase 2 231277-92-2, 388082-78-8 208908 9941095
39 Albumin-Bound Paclitaxel Phase 1, Phase 2
40 Antimitotic Agents Phase 1, Phase 2
41 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
42 Protein Kinase Inhibitors Phase 1, Phase 2
43 Pharmaceutical Solutions Phase 1

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 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
4 Study Of White Blood Cells In The Cerebrospinal Fluid And Blood Of Patients With Relapsing Forms Of Multiple Sclerosis Completed NCT00469378 Phase 2 firategrast
5 Lapatinib With Carboplatin and Paclitaxel in Esophagus and Gastroesophageal Junction (GEJ) Terminated NCT01395537 Phase 1, Phase 2 Carboplatin AUC;Paclitaxel;lapatinib
6 Safety, Tolerability and Pharmacokinetics of Multiple Rising Doses of BI 201335 NA in Healthy Male Subjects Completed NCT02182362 Phase 1 BI 201335 NA;Placebo
7 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia Completed NCT00383318
8 Biomarker for Patients With Gilbert Disease Recruiting NCT02712138

Search NIH Clinical Center for Gilbert Syndrome

Cochrane evidence based reviews: gilbert disease

Genetic Tests for Gilbert Syndrome

Genetic tests related to Gilbert Syndrome:

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

Anatomical Context for Gilbert Syndrome

MalaCards organs/tissues related to Gilbert Syndrome:

41
Liver, Skin, Eye, Testes, Heart, Breast, Endothelial

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 98)
# Title Authors Year
1
Gilbert syndrome combined with prolonged jaundice caused by contrast agent: Case report. ( 29632429 )
2018
2
Frequency of the UGT1A1*28 Polymorphism in a Romanian Cohort of Gilbert Syndrome Individuals. ( 28338110 )
2017
3
Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. ( 28397734 )
2017
4
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095 )
2017
5
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
6
Oncology Drug Dosing in Gilbert Syndrome Associated with UGT1A1: A Summary of the Literature. ( 28494109 )
2017
7
Gilbert Syndrome ( 29262099 )
2017
8
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. ( 29200157 )
2017
9
Gilbert syndrome in patients with type 1 diabetes-Prevalence, glycemic control, and microalbuminuria. ( 28093842 )
2017
10
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
11
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
12
Scoliosis in a Patient With Gilbert Syndrome: A Case Report and Review of the Literature. ( 26632744 )
2015
13
Protective effect of elevated bilirubin levels on cardiovascular disease in patients with Gilbert syndrome. ( 26536982 )
2015
14
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
15
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening. ( 25855413 )
2015
16
Donor Safety and Recipient Liver Function After Right-Lobe Liver Transplantation From Living Donors With Gilbert Syndrome. ( 26707296 )
2015
17
Evaluation of aortic stiffness in Gilbert syndrome patients: a protective effect of elevated bilirubin levels. ( 26536984 )
2015
18
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
19
Patterns and genetic polymorphisms in unconjugated hyperbilirubinemia (gilbert syndrome). ( 25646240 )
2015
20
Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. ( 24783083 )
2014
21
Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population. ( 25262077 )
2014
22
Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice. ( 25587528 )
2014
23
Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients. ( 24620945 )
2014
24
Pregnancy with gilbert syndrome - a case report. ( 25121033 )
2014
25
Hyperbilirubinemia, augmentation of endothelial function, and decrease in oxidative stress in Gilbert syndrome. ( 22773454 )
2012
26
Right-lobe liver transplant from donors with Gilbert syndrome. ( 22309418 )
2012
27
Coexistence of Gilbert syndrome with hereditary haemolytic anaemias. ( 22554963 )
2012
28
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
29
Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation. ( 22213127 )
2012
30
Reduced circulating oxidized LDL is associated with hypocholesterolemia and enhanced thiol status in Gilbert syndrome. ( 22521902 )
2012
31
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. ( 22325916 )
2012
32
Severe jaundice in two children with Kawasaki disease: a possible association with Gilbert syndrome. ( 22219623 )
2012
33
Gilbert syndrome. ( 22160004 )
2012
34
Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis. ( 22134611 )
2012
35
Gilbert syndrome: the UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism. ( 22448797 )
2012
36
Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis. ( 21633730 )
2011
37
Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia. ( 21403409 )
2011
38
Genetic variation in UGT1A1 typical of Gilbert syndrome is associated with unconjugated hyperbilirubinemia in patients receiving tocilizumab. ( 21412181 )
2011
39
Snapback primer genotyping of the Gilbert syndrome UGT1A1 (TA)(n) promoter polymorphism by high-resolution melting. ( 21771946 )
2011
40
Is Gilbert syndrome a new risk factor for breast cancer? ( 21636218 )
2011
41
Gilbert syndrome in Iran, Fars Province. ( 20103965 )
2010
42
Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome. ( 20529348 )
2010
43
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population. ( 19309288 )
2009
44
Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin. ( 18343383 )
2008
45
''Iatrogenic Gilbert syndrome''--a strategy for reducing vascular and cancer risk by increasing plasma unconjugated bilirubin. ( 17825497 )
2007
46
Relationship between Gilbert syndrome and prevalence of vascular complications in patients with diabetes. ( 17895455 )
2007
47
Severe hyperbilirubinemia in a 10-year-old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome. ( 17587286 )
2007
48
Urinary excretion of oxidative metabolites of bilirubin in subjects with Gilbert syndrome. ( 17565639 )
2007
49
Gilbert syndrome presenting in a young boy, confirmed by the rifampin test. ( 17877076 )
2007
50
Gilbert syndrome in the newborn. ( 17990369 )
2007

Variations for Gilbert Syndrome

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

75
# 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 30)
# 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 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh37 Chromosome 2, 234669144: 234669144
4 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh38 Chromosome 2, 233760498: 233760498
5 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh37 Chromosome 2, 234676979: 234676979
6 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh38 Chromosome 2, 233768333: 233768333
7 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
8 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
9 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
10 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
11 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh37 Chromosome 2, 234676903: 234676903
12 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh38 Chromosome 2, 233768257: 233768257
13 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh37 Chromosome 2, 234681416: 234681416
14 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh38 Chromosome 2, 233772770: 233772770
15 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh37 Chromosome 2, 234681790: 234681790
16 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh38 Chromosome 2, 233773144: 233773144
17 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh37 Chromosome 2, 234669227: 234669227
18 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh38 Chromosome 2, 233760581: 233760581
19 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh37 Chromosome 2, 234669233: 234669233
20 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh38 Chromosome 2, 233760587: 233760587
21 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh37 Chromosome 2, 234669410: 234669410
22 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh38 Chromosome 2, 233760764: 233760764
23 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh37 Chromosome 2, 234680925: 234680925
24 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh38 Chromosome 2, 233772279: 233772279
25 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh37 Chromosome 2, 234681544: 234681544
26 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh38 Chromosome 2, 233772898: 233772898
27 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh37 Chromosome 2, 234681406: 234681406
28 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh38 Chromosome 2, 233772760: 233772760
29 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh37 Chromosome 2, 234681645: 234681645
30 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh38 Chromosome 2, 233772999: 233772999

Expression for Gilbert Syndrome

Search GEO for disease gene expression data for Gilbert Syndrome.

Pathways for Gilbert Syndrome

Pathways related to Gilbert Syndrome according to KEGG:

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

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 G6PD SLCO1B1 UGT1A1 UGT1A10 UGT1A3 UGT1A4
2
Show member pathways
13.13 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3
Show member pathways
12.8 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
4 12.46 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
5
Show member pathways
12.39 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
6 12.18 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
7
Show member pathways
11.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8
8
Show member pathways
11.8 SLCO1B1 UGT1A1 UGT1A3 UGT1A9
9 11.62 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
10
Show member pathways
11.59 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11
Show member pathways
11.59 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A7 UGT1A8
12
Show member pathways
11.5 UGT1A3 UGT1A4
13
Show member pathways
11.41 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
14 11.4 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
15
Show member pathways
11.39 SLCO1B1 UGT1A1
16
Show member pathways
11.35 SLCO1B1 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
17
Show member pathways
11.33 SLCO1B1 UGT1A1 UGT1A8
18
Show member pathways
11.04 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
19
Show member pathways
10.97 UGT1A1 UGT1A9
20 10.96 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
21 10.87 UGT1A3 UGT1A4 UGT1A9
22
Show member pathways
10.79 UGT1A4 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 9.97 SLCO1B1 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
2 membrane GO:0016020 9.96 G6PD SLCO1B1 UGT1A1 UGT1A10 UGT1A3 UGT1A4
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 metabolic process GO:0008152 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 xenobiotic glucuronidation GO:0052697 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 retinoic acid metabolic process GO:0042573 9.72 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
4 flavone metabolic process GO:0051552 9.65 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
5 negative regulation of catalytic activity GO:0043086 9.63 UGT1A1 UGT1A7 UGT1A8
6 flavonoid glucuronidation GO:0052696 9.56 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
7 drug metabolic process GO:0017144 9.51 UGT1A1 UGT1A7
8 heme catabolic process GO:0042167 9.49 UGT1A1 UGT1A4
9 coumarin metabolic process GO:0009804 9.48 UGT1A7 UGT1A8
10 negative regulation of steroid metabolic process GO:0045939 9.43 UGT1A1 UGT1A8
11 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
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 transferase activity, transferring hexosyl groups GO:0016758 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
4 enzyme inhibitor activity GO:0004857 9.63 UGT1A1 UGT1A7 UGT1A8
5 UDP-glycosyltransferase activity GO:0008194 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 retinoic acid binding GO:0001972 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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