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GILBS
MCID: GLB001
MIFTS: 58

Gilbert Syndrome (GILBS)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Gilbert Syndrome

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Skin diseases Liver diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 143500
Disease Ontology 12 DOID:2739
ICD10 33 E80.4
MeSH 44 D005878
NCIt 50 C84729
SNOMED-CT 68 27503000
MedGen 42 C0017551
KEGG 37 H02055
UMLS 73 C0017551
Sources

Summaries for Gilbert Syndrome

About this section
NIH Rare Diseases : 53 Gilbert syndrome is a mild liver disorder that impairs the body's ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia). Most people with Gilbert syndrome do not have symptoms or have mild jaundice. In some cases, jaundice is triggered or made worse by stress, exercise, fasting, dehydration, drinking alcohol, or illness. Some people with Gilbert syndrome have reported other symptoms such as fatigue, weakness, nausea, or diarrhea. There has not been evidence these other symptoms are caused by hypebilirubinemia, and the cause of these symptoms currently is unclear. People with Gilbert syndrome may also have more side effects from certain drugs such as irinotecan. Gilbert syndrome is caused by mutations in the UGT1A1 gene and inheritance is autosomal recessive. Mutations in this gene cause reduced levels of a liver enzyme needed to eliminate bilirubin from the body, causing bilirubin to accumulate. People with Gilbert syndrome have about one third of the normal enzyme activity, which usually is enough to prevent symptoms from developing. Treatment for Gilbert syndrome is usually not needed because in most cases it does not cause symptoms. People with Gilbert syndrome have a normal life expectancy. Of note, mutations in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome. There are two forms: Crigler-Najjar syndrome type 1 (CN-1) and Crigler-Najjar syndrome type 2 (CN-2). In both types, jaundice is persistent and more severe than in Gilbert syndrome, with CN-1 causing potentially life-threatening symptoms. Sometimes it can be hard to distinguish between Gilbert syndrome and CN-2 because of considerable overlap in measured bilirubin levels. Genetic testing to identify the specific mutation present is sometimes needed for the correct diagnosis.

MalaCards based summary : Gilbert Syndrome, also known as gilbert's syndrome, is related to crigler-najjar syndrome, type ii and cholelithiasis. 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 Ritonavir have been mentioned in the context of this disorder. Affiliated tissues include liver, skin 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.

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.

Wikipedia : 76 Gilbert''s syndrome (GS) is a mild liver disorder in which the liver does not properly process... more...

Sources

Related Diseases for Gilbert Syndrome

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 31.2 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
2 cholelithiasis 29.9 UGT1A6 UGT1A1
3 kernicterus 29.9 UGT1A9 UGT1A6 UGT1A4 UGT1A1 G6PD
4 crigler-najjar syndrome, type i 29.7 UGT1A9 UGT1A6 UGT1A4 UGT1A1
5 neonatal jaundice 29.5 UGT1A1 SLCO1B1 G6PD
6 glucosephosphate dehydrogenase deficiency 29.3 UGT1A1 SLCO1B1 G6PD
7 congenital nonhemolytic jaundice 11.5
8 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.2
9 anemia, congenital dyserythropoietic, type iii 11.1
10 hyperbilirubinemia, shunt, primary 11.1
11 hereditary spherocytosis 10.2
12 descending colon cancer 10.1 UGT1A6 UGT1A1
13 dihydropyrimidine dehydrogenase deficiency 10.1 UGT1A6 UGT1A1
14 pigmentation disease 10.0 UGT1A6 UGT1A1
15 thalassemia 10.0
16 hypertrophic pyloric stenosis 10.0
17 pyloric stenosis 10.0
18 irinotecan toxicity 9.9 UGT1A7 UGT1A1 SLCO1B1
19 beta-thalassemia 9.9
20 heart disease 9.9
21 inherited metabolic disorder 9.9 UGT1A6 UGT1A1
22 breast cancer 9.8
23 autism 9.8
24 cystic fibrosis 9.8
25 factor vii deficiency 9.8
26 hemochromatosis, type 1 9.8
27 alpha-thalassemia 9.8
28 aplastic anemia 9.8
29 kawasaki disease 9.8
30 leukemia, acute lymphoblastic 9.8
31 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.8
32 alacrima, achalasia, and mental retardation syndrome 9.8
33 hemolytic anemia 9.8
34 hepatitis 9.8
35 hepatitis b 9.8
36 ischemic heart disease 9.8
37 leukemia 9.8
38 ulcerative colitis 9.8
39 rheumatic heart disease 9.8
40 colitis 9.8
41 scoliosis 9.8
42 lymphocytic leukemia 9.8
43 choledocholithiasis 9.8
44 gaucher's disease 9.8
45 hemoglobinopathy 9.8
46 sickle cell anemia 9.8 UGT1A6 UGT1A1 G6PD
47 pericholangitis 9.7 UGT1A8 UGT1A4 UGT1A3 UGT1A10
48 acetaminophen metabolism 9.6 UGT1A9 UGT1A6 UGT1A3 UGT1A10 UGT1A1
49 bilirubin metabolic disorder 9.5 UGT1A7 UGT1A6 UGT1A1 SLCO1B1 G6PD
50 leber congenital amaurosis 4 9.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A3 UGT1A10

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



Diseases related to Gilbert Syndrome
Sources

Symptoms & Phenotypes for Gilbert Syndrome

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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 dehydration 32 HP:0001944
2 jaundice 32 HP:0000952
3 unconjugated hyperbilirubinemia 32 HP:0008282

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.47 UGT1A3 UGT1A4
2 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.47 UGT1A7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.47 UGT1A4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.47 UGT1A3 UGT1A7
5 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.47 UGT1A7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.47 UGT1A3 UGT1A4 UGT1A7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.47 UGT1A3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.47 UGT1A7
9 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.47 UGT1A7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.47 UGT1A7
Sources

Drugs & Therapeutics for Gilbert Syndrome

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

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational Phase 4 7440-66-6
2
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
3
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5 Micronutrients Phase 4
6 HIV Protease Inhibitors Phase 4
7
Bilirubin Phase 4 635-65-4 5280352
8 Cytochrome P-450 Enzyme Inhibitors Phase 4
9 Antiviral Agents Phase 4
10 Anti-Retroviral Agents Phase 4
11 Anti-HIV Agents Phase 4
12 Atazanavir Sulfate Phase 4
13 Dermatologic Agents Phase 4,Phase 3
14 Astringents Phase 4
15 Cytochrome P-450 CYP3A Inhibitors Phase 4
16 Trace Elements Phase 4
17
protease inhibitors Phase 4
18 Anti-Infective Agents Phase 4
19 Aspartic Acid Phase 4
20 alanine Phase 4
21 N-Methylaspartate Phase 4
22 Gastrointestinal Agents Phase 4
23 Cholagogues and Choleretics Phase 4
24
leucovorin Approved Phase 3 58-05-9 6006 143
25
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
27 Antirheumatic Agents Phase 3
28 Folic Acid Antagonists Phase 3
29 Immunosuppressive Agents Phase 3
30 Vitamin B9 Phase 3
31 Vitamin B Complex Phase 3
32 Antimetabolites, Antineoplastic Phase 3
33 Folate Phase 3
34 Antimetabolites Phase 3
35 Nucleic Acid Synthesis Inhibitors Phase 3
36 Immunologic Factors Phase 3
37
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
38
Carboplatin Approved Phase 1, Phase 2 41575-94-4 10339178 38904 498142
39
Lapatinib Approved March 2007, Investigational Phase 1, Phase 2 388082-78-8, 231277-92-2 208908 9941095
40 Albumin-Bound Paclitaxel Phase 1, Phase 2
41 Antineoplastic Agents, Phytogenic Phase 1, Phase 2
42 Protein Kinase Inhibitors Phase 1, Phase 2
43 Antimitotic Agents Phase 1, Phase 2
44 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 Lapatinib With Carboplatin and Paclitaxel in Esophagus and Gastroesophageal Junction (GEJ) Terminated NCT01395537 Phase 1, Phase 2 Carboplatin AUC;Paclitaxel;lapatinib
5 Study Of White Blood Cells In The Cerebrospinal Fluid And Blood Of Patients With Relapsing Forms Of Multiple Sclerosis Completed NCT00469378 Phase 2 firategrast
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 Biomarker for Gilbert Disease: BioGilbert Recruiting NCT02712138
8 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

Sources

Genetic Tests for Gilbert Syndrome

About this section

Genetic tests related to Gilbert Syndrome:

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

Anatomical Context for Gilbert Syndrome

About this section

MalaCards organs/tissues related to Gilbert Syndrome:

41
Liver, Skin, Eye, Testes, Prostate, Bone, Lung
Sources

Publications for Gilbert Syndrome

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Articles related to Gilbert Syndrome:

(show top 50) (show all 319)
# Title Authors Year
1
Gilbert syndrome combined with prolonged jaundice caused by contrast agent: Case report. ( 29632429 )
2018
2
Diagnostic criteria and contributors to Gilbert's syndrome. ( 29390925 )
2018
3
Celiac Disease in Association with Gilbert's Syndrome. ( 29637464 )
2018
4
Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India. ( 30105552 )
2018
5
Frequency of the UGT1A1*28 Polymorphism in a Romanian Cohort of Gilbert Syndrome Individuals. ( 28338110 )
2017
6
Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. ( 28397734 )
2017
7
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095 )
2017
8
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
9
Oncology Drug Dosing in Gilbert Syndrome Associated with UGT1A1: A Summary of the Literature. ( 28494109 )
2017
10
Gilbert Syndrome ( 29262099 )
2017
11
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. ( 29200157 )
2017
12
Gilbert syndrome in patients with type 1 diabetes-Prevalence, glycemic control, and microalbuminuria. ( 28093842 )
2017
13
A Case of Acquired Gilbert's Syndrome. ( 27681308 )
2017
14
Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test. ( 27866642 )
2017
15
Mice with hyperbilirubinemia due to Gilbert's syndrome polymorphism are resistant to hepatic steatosis by decreased serine 73 phosphorylation of PPARα. ( 28096081 )
2017
16
Anesthetic management of a case of Gilbert's syndrome for mitral and aortic valve replacement: Role of transesophageal echocardiography. ( 28217062 )
2017
17
The Association between Prolonged Jaundice and TATA Box Dinucleotide Repeats in Gilbert's Syndrome. ( 29207733 )
2017
18
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
19
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
20
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
21
Longer telomeres in chronic, moderate, unconjugated hyperbilirubinaemia: insights from a human study on Gilbert's Syndrome. ( 26926838 )
2016
22
Gilbert's syndrome in healthy blood donors what next?? ( 27011673 )
2016
23
Letter: should HCV cirrhotics with high bilirubin or Gilbert's syndrome be excluded from paritaprevir, ombitasvir, or dasabuvir? ( 27040170 )
2016
24
Letter: should HCV cirrhotics with high bilirubin or Gilbert's syndrome be excluded from paritaprevir, ombitasvir, or dasabuvir? Authors' reply. ( 27040171 )
2016
25
Features of an altered AMPK metabolic pathway in Gilbert's Syndrome, and its role in metabolic health. ( 27444220 )
2016
26
Relation between unconjugated bilirubin and RDW, neutrophil to lymphocyte ratio, platelet to lymphocyte ratio in Gilbert's syndrome. ( 27610311 )
2016
27
Gilbert's syndrome in haemopoietic cell transplantation. ( 27968817 )
2016
28
Mortality outcomes after busulfan-containing conditioning treatment and haemopoietic cell transplantation in patients with Gilbert's syndrome: a retrospective cohort study. ( 27968820 )
2016
29
FEATURES OF GILBERT'S SYNDROME IN PATIENTS WITH DIFFERENT GENOTYPES UGT1AI. ( 29889392 )
2016
30
Scoliosis in a Patient With Gilbert Syndrome: A Case Report and Review of the Literature. ( 26632744 )
2015
31
Protective effect of elevated bilirubin levels on cardiovascular disease in patients with Gilbert syndrome. ( 26536982 )
2015
32
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
33
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening. ( 25855413 )
2015
34
Donor Safety and Recipient Liver Function After Right-Lobe Liver Transplantation From Living Donors With Gilbert Syndrome. ( 26707296 )
2015
35
Evaluation of aortic stiffness in Gilbert syndrome patients: a protective effect of elevated bilirubin levels. ( 26536984 )
2015
36
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
37
Patterns and genetic polymorphisms in unconjugated hyperbilirubinemia (gilbert syndrome). ( 25646240 )
2015
38
Anomalous pulmonary venous connection and Gilbert's syndrome. ( 25454326 )
2015
39
Bilirubin, platelet activation and heart disease: a missing link to cardiovascular protection in Gilbert's syndrome? ( 25576848 )
2015
40
Influence of Gilbert's syndrome on the formation of ethyl glucuronide. ( 25680552 )
2015
41
The combination of new missense mutation with [A(TA)7TAA] dinucleotide repeat in UGT1A1 gene promoter causes Gilbert's syndrome. ( 25887876 )
2015
42
Liver transplantation from living donors with Gilbert's syndrome is a safe procedure for both donors and recipients. ( 26271485 )
2015
43
GILBERT'S SYNDROME - A CONCEALED ADVERSITY FOR PHYSICIANS AND SURGEONS. ( 26721045 )
2015
44
Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. ( 24783083 )
2014
45
Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population. ( 25262077 )
2014
46
Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice. ( 25587528 )
2014
47
Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients. ( 24620945 )
2014
48
Pregnancy with gilbert syndrome - a case report. ( 25121033 )
2014
49
Hepatotoxicity of isotretinoin in patients with acne and Gilbert's syndrome: a comparative study. ( 24650805 )
2014
50
Bilirubin and beyond: a review of lipid status in Gilbert's syndrome and its relevance to cardiovascular disease protection. ( 23201182 )
2013
Sources

Variations for Gilbert Syndrome

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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 36)
# 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.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh37 Chromosome 2, 234676979: 234676979
10 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh38 Chromosome 2, 233768333: 233768333
11 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
12 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
13 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
14 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
15 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
16 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
17 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh37 Chromosome 2, 234676903: 234676903
18 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh38 Chromosome 2, 233768257: 233768257
19 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh37 Chromosome 2, 234681416: 234681416
20 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh38 Chromosome 2, 233772770: 233772770
21 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh37 Chromosome 2, 234681790: 234681790
22 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh38 Chromosome 2, 233773144: 233773144
23 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh37 Chromosome 2, 234669227: 234669227
24 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh38 Chromosome 2, 233760581: 233760581
25 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh37 Chromosome 2, 234669233: 234669233
26 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh38 Chromosome 2, 233760587: 233760587
27 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh37 Chromosome 2, 234669410: 234669410
28 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh38 Chromosome 2, 233760764: 233760764
29 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh37 Chromosome 2, 234680925: 234680925
30 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh38 Chromosome 2, 233772279: 233772279
31 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh37 Chromosome 2, 234681544: 234681544
32 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh38 Chromosome 2, 233772898: 233772898
33 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh37 Chromosome 2, 234681406: 234681406
34 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh38 Chromosome 2, 233772760: 233772760
35 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh37 Chromosome 2, 234681645: 234681645
36 UGT1A1 NM_000463.2(UGT1A1): c.*440G> C single nucleotide variant Benign rs8330 GRCh38 Chromosome 2, 233772999: 233772999
Sources

Expression for Gilbert Syndrome

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Search GEO for disease gene expression data for Gilbert Syndrome.
Sources

Pathways for Gilbert Syndrome

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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
Metabolism 66
Show member pathways
 13.88 G6PD SLCO1B1 UGT1A1 UGT1A10 UGT1A3 UGT1A4
2
Cytochrome P450 - arranged by substrate type 66
Show member pathways
 13.12 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3
Drug metabolism - cytochrome P450 37
Show member pathways
 12.8 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
4
Porphyrin and chlorophyll metabolism 37
Show member pathways
 12.36 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
5
Glucose / Energy Metabolism 4
12.3 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
6
NRF2 pathway 1
12.16 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
7
Statin Pathway - Generalized, Pharmacokinetics 61
Show member pathways
 11.8 SLCO1B1 UGT1A1 UGT1A3 UGT1A9
8
Acetaminophen Pathway (therapeutic doses), Pharmacokinetics 61
Show member pathways
 11.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8
9
Phenytoin Pathway, Pharmacokinetics 61
Show member pathways
 11.64 UGT1A1 UGT1A4 UGT1A6 UGT1A9
10
Aryl Hydrocarbon Receptor Pathway 1
11.59 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
11
Imatinib Pathway, Pharmacokinetics/Pharmacodynamics 61
Show member pathways
 11.49 SLCO1B1 UGT1A1
12
Clomipramine Pathway, Pharmacokinetics 61
Show member pathways
 11.46 UGT1A3 UGT1A4
13
Tamoxifen metabolism 1
Show member pathways
 11.42 UGT1A10 UGT1A3 UGT1A4 UGT1A8
14
Constitutive Androstane Receptor Pathway 1
11.38 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
15
Estrogen metabolism 1
Show member pathways
 11.38 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
16
Irinotecan Pathway 1
Show member pathways
 11.35 SLCO1B1 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
17
Codeine and Morphine Pathway, Pharmacokinetics 61
Show member pathways
 11.33 SLCO1B1 UGT1A1 UGT1A8
18
Valproic Acid Pathway, Pharmacokinetics 61
11.06 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
19
Steroid hormone biosynthesis 37
Show member pathways
 11.04 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
20
Erlotinib Pathway, Pharmacokinetics 61
Show member pathways
 10.97 UGT1A1 UGT1A9
21
Bupropion Pathway, Pharmacokinetics 61
10.88 UGT1A3 UGT1A4 UGT1A9
22
Nicotine Pathway, Pharmacokinetics 61
Show member pathways
 10.79 UGT1A4 UGT1A9
Sources

GO Terms for Gilbert Syndrome

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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 11)
# 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 drug metabolic process GO:0017144 9.49 UGT1A1 UGT1A7
7 coumarin metabolic process GO:0009804 9.48 UGT1A7 UGT1A8
8 heme catabolic process GO:0042167 9.46 UGT1A1 UGT1A4
9 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
10 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
11 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

Sources for Gilbert Syndrome

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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