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MCID: BLR008
MIFTS: 57

Bilirubin Metabolic Disorder

Categories: Blood diseases, Metabolic diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bilirubin Metabolic Disorder

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MalaCards integrated aliases for Bilirubin Metabolic Disorder:

Name: Bilirubin Metabolic Disorder 12 15
Hyperbilirubinemia 12 73 36 29 54 6 44 15 70
Hyperbilirubinemia, Hereditary 44 70
Hereditary Hyperbilirubinemia 12
Hyperbilirubinaemia 12

Classifications:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Nephrological diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:2741
KEGG 36 H00208
NCIt 50 C84761
SNOMED-CT 67 154770008
ICD10 32 E80.6 E80.7
UMLS 70 C0020433 C0020435
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Summaries for Bilirubin Metabolic Disorder

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KEGG : 36 Gilbert disease and Crigler-Najjar syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial disorder characterized by low-grade chronic hyperbilirubinemia, while Crigler-Najjar syndromes are more severe by kernicterus and jaundice. Dubin-Johnson syndrome (DJS) is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump. Rotor syndrome (RS) is caused by mutations in the SLCO1B1 and SLCO1B3 genes that encode organic anion transporters. In both DJS and RS, mild jaundice begins shortly after birth or in childhood. There are no signs of hemolysis, and routine hematologic and clinical-biochemistry test results are normal, aside from the primarily conjugated hyperbilirubinemia. The hepatocyte pigment deposits is typical of DJS. Total urinary excretion of coproporphyrins is greatly increased in RS.

MalaCards based summary : Bilirubin Metabolic Disorder, also known as hyperbilirubinemia, is related to crigler-najjar syndrome, type i and gilbert syndrome, and has symptoms including muscle weakness, polydipsia and icterus. An important gene associated with Bilirubin Metabolic Disorder is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and ABC transporters. The drugs Oxytocin and Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, myeloid and kidney.

Disease Ontology : 12 An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.

Wikipedia : 73 Bilirubin (BR) is a yellow compound that occurs in the normal catabolic pathway that breaks down heme in... more...

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Related Diseases for Bilirubin Metabolic Disorder

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Diseases related to Bilirubin Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 553)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type i 32.6 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 gilbert syndrome 32.6 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 kernicterus 31.8 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 neonatal jaundice 31.6 UGT1A1 SLCO1B1 G6PD
5 glucosephosphate dehydrogenase deficiency 31.5 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 SLC22A7 HP
6 hereditary spherocytosis 31.4 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7 liver cirrhosis 31.3 UGT1A7 HP GPT F2 ALB
8 crigler-najjar syndrome, type ii 31.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 cholelithiasis 31.2 UGT1A8 UGT1A6 UGT1A3 UGT1A1 HP GPT
10 hyperbilirubinemia, transient familial neonatal 31.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
11 deficiency anemia 31.1 HP GPT G6PD F2 ALB
12 bilirubin, serum level of, quantitative trait locus 1 31.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
13 choledocholithiasis 31.0 UGT1A1 GPT F2 ALB
14 cholangitis 31.0 HP GPT F2 ALB
15 hepatitis a 31.0 GPT F2 ALB
16 blood group incompatibility 31.0 UGT1A8 UGT1A1 G6PD ALB
17 sickle cell disease 31.0 UGT1A1 HP G6PD
18 beta-thalassemia 30.9 UGT1A1 GPT G6PD F2
19 respiratory failure 30.9 GPT G6PD F2 ALB
20 sickle cell anemia 30.9 UGT1A8 UGT1A6 UGT1A10 UGT1A1 GPT G6PD
21 exanthem 30.9 GPT F2 ALB
22 pyuria 30.9 GPT F2 ALB
23 hemoglobinopathy 30.9 UGT1A1 HP G6PD ALB
24 hemosiderosis 30.9 HP GPT ALB
25 gallbladder disease 30.8 UGT1A8 UGT1A6 UGT1A1 GPT ALB
26 acute kidney failure 30.8 HP GPT F2 ALB
27 esophageal varix 30.8 HP GPT F2 ALB
28 viral hepatitis 30.8 GPT G6PD F2 ALB
29 tricuspid valve insufficiency 30.8 GPT F2 ALB
30 acute cystitis 30.8 GPT F2 ALB
31 alpha-thalassemia 30.7 UGT1A8 UGT1A1 HP G6PD
32 hyperbilirubinemia, rotor type 30.7 SLCO1B1 ALB ABCC2
33 cholestasis 30.7 SLCO1B1 GPT F2 ALB ABCC2
34 hemorrhagic disease 30.7 HP GPT F2 ALB
35 acute kidney tubular necrosis 30.6 GPT F2 ALB
36 primary biliary cholangitis 30.6 SLCO1B1 GPT F2 ALB ABCC2
37 acalculous cholecystitis 30.6 GPT F2 ALB
38 hepatic coma 30.6 GPT F2 ALB
39 obstructive jaundice 30.6 GPT F2 ALB ABCC2
40 cholecystitis 30.6 HP GPT F2 ALB
41 syphilis 30.5 GPT F2 ALB
42 liver disease 30.5 UGT1A1 GPT F2 ALB ABCC2
43 biliary atresia 30.5 GPT F2 ALB
44 diarrhea 30.5 UGT1A1 GPT ALB ABCC2
45 autoimmune hepatitis 30.5 GPT F2 ALB
46 alcoholic hepatitis 30.5 GPT F2 ALB
47 drug-induced hepatitis 30.5 UGT1A3 UGT1A1 GPT ALB
48 inherited metabolic disorder 30.4 UGT1A8 UGT1A6 UGT1A1 GPT F2 ALB
49 ascending cholangitis 30.4 GPT F2 ALB
50 acute cholangitis 30.4 GPT F2 ALB

Graphical network of the top 20 diseases related to Bilirubin Metabolic Disorder:



Diseases related to Bilirubin Metabolic Disorder
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Symptoms & Phenotypes for Bilirubin Metabolic Disorder

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UMLS symptoms related to Bilirubin Metabolic Disorder:


muscle weakness; polydipsia; icterus; jaundice (not of newborn)
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Drugs & Therapeutics for Bilirubin Metabolic Disorder

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Drugs for Bilirubin Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
2
Zinc Approved, Investigational Phase 4 7440-66-6 32051
3
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
4
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
5 Pharmaceutical Solutions Phase 4
6 Immunoglobulins Phase 4
7 Antibodies Phase 4
8 Trace Elements Phase 4
9 Micronutrients Phase 4
10 Immunologic Factors Phase 4
11 Rho(D) Immune Globulin Phase 4
12 Immunoglobulins, Intravenous Phase 4
13 gamma-Globulins Phase 4
14 Atazanavir Sulfate Phase 4
15 Nutrients Phase 4
16 Dermatologic Agents Phase 4
17
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3
18
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 5743
19 Liver Extracts Phase 2, Phase 3
20 HIV Protease Inhibitors Phase 2, Phase 3
21
protease inhibitors Phase 2, Phase 3
22 Gastrointestinal Agents Phase 2, Phase 3
23 Antiemetics Phase 2, Phase 3
24 Dexamethasone 21-phosphate Phase 2, Phase 3
25 Hormones Phase 2, Phase 3
26 Hormone Antagonists Phase 2, Phase 3
27 Anti-Inflammatory Agents Phase 2, Phase 3
28 glucocorticoids Phase 2, Phase 3
29 Antineoplastic Agents, Hormonal Phase 2, Phase 3
30 BB 1101 Phase 2, Phase 3
31 Antioxidants Phase 3
32 Protective Agents Phase 3
33
Bilirubin Phase 3 635-65-4 5280352
34
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
35
Pegaspargase Approved, Investigational Phase 2 130167-69-0
36
inotuzumab ozogamicin Approved, Investigational Phase 2 635715-01-4
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
38 Hematinics Phase 2
39 Vitamin B Complex Phase 2
40 Folate Phase 2
41 carnitine Phase 2
42 Vitamins Phase 2
43 Vitamin B9 Phase 2
44
asparaginase Phase 2
45 Tin mesoporphyrin Phase 2
46
Ethiodized oil Approved, Investigational Phase 1 8008-53-5
47
Gemcitabine Approved Phase 1 95058-81-4 60750
48
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
49
Chlorotrianisene Investigational, Withdrawn Phase 1 569-57-3 11289
50 Anti-Retroviral Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 109)
# Name Status NCT ID Phase Drugs
1 The Effect of Intravenous Oxytocin Infusion Using Different Diluents on Neonatal Bilirubin & Sodium Levels .A Prospective Randomized Controlled Trial. Unknown status NCT02602301 Phase 4 Oxytocin
2 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
3 Efficacy of Reverse Phototherapy With Super Light-emitting Diode(Super-led) in Term and Late Preterm Infants:Randomized and Controlled Clinical Trial Unknown status NCT01340339 Phase 4
4 Utilisation du Dispositif BBloo® Pour le Traitement de l'ictère néonatal : Satisfaction Des Parents et Des Personnels Soignants Unknown status NCT02156050 Phase 4
5 Phase 4 Study of Saccharomyces Boulardii on Indirect Hyperbilirubinemia Unknown status NCT01411761 Phase 4
6 Phase 4 Study of Use of High-dose Intravenous Immune Globulin for Prevent Hyperbilirubinemia Due Rh Hemolytic Disease in Newborns Infants Completed NCT00288600 Phase 4 Intravenous Immunoglobulin;Normal saline solution
7 A Randomized Crossover Study of the Effects of Zinc Sulphate Supplementation on Atazanavir/Ritonavir-associated Hyperbilirubinemia Completed NCT01475227 Phase 4 1 Solvazinc tablet, day 2 to day 15;1 Solvazinc tablet, day 15 to day 28
8 Efficacy and Safety of Probiotics in Neonatal Hyperbilirubinemia Unknown status NCT03266913 Phase 3 Probiotic
9 The Effects of Dexamethasone Administration on Jaundice Following Liver Resection: a Randomized Controlled Trial Unknown status NCT02991339 Phase 2, Phase 3 Dexamethasone
10 A Randomized Trial of Aggressive or Conservative Phototherapy for Extremely Low Birth Weight Infants Completed NCT00114543 Phase 3
11 Effect of Lipid Intake on Direct Hyperbilirubinemia in Late Preterm and Term Infants With Gastrointestinal Surgical Problems. Completed NCT01555957 Phase 3 intravenous lipid
12 Routine Use of Transcutaneous Bilirubinometry Reduces the Need for Blood Sampling in Neonates With Jaundice Completed NCT00653874 Phase 3
13 Improving Health Outcomes for New Mothers and Babies Completed NCT00360204 Phase 3
14 Cycled Phototherapy: A Safer Effective Method to Control the Serum Bilirubin Of Extremely Premature Infants? Recruiting NCT03927833 Phase 3
15 Effect of Oral Zinc Given Daily Between Days 2 and 7 of Life to Term or Near Term Neonates With Serum Bilirubin Levels of More Than 6 mg/dL at 24 ± 6 Hours of Life on Hyperbilirubinemia and Phototherapy Completed NCT00692224 Phase 1, Phase 2 zinc gluconate;placebo
16 An Open-Label Study of the Safety and Clinical Pharmacology of Stanate® in Infants At-Risk for Exchange Transfusion Completed NCT00115544 Phase 2 Stanate
17 Phase II Study of Tin Mesoporphyrin vs Phototherapy for Hyperbilirubinemia in Premature Newborns Completed NCT00004382 Phase 2 tin mesoporphyrin
18 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
19 A Phase 2b Multicenter, Single Dose, Randomized, Double Blind, Placebo-Controlled, Parallel-Group Study Evaluating the Safety and Efficacy of Two Doses of Stannsoporfin in Combination With Phototherapy in Neonates Completed NCT01887327 Phase 2 Stannsoporfin;Placebo
20 Mitochondrial Cofactors for the Treatment of Hyperbilirubinemia Due to PEG-Asparaginase and or Inotuzumab Ozogamicin in Patients With Acute Lymphoblastic Leukemia (ALL) Recruiting NCT03564678 Phase 2 Vitamin B Complex
21 A Phase 2b, Multicenter, Single-dose, Blinded, Randomized, Placebo-controlled, Dose-escalation, Safety and Efficacy Trial of Stannsoporfin in Neonates With Hyperbilirubinemia Terminated NCT00850993 Phase 2 Stannsoporfin
22 A Pilot Study of Moderate Hyperbilirubinemia in Type 1 Diabetes Mellitus Completed NCT01421355 Phase 1 Atazanavir
23 Safety of Transarterial Chemoembolization in Patients With Elevated Bilirubin Recruiting NCT03259581 Phase 1
24 A Phase 1, Multicenter, Open-label, Dose-escalation Study to Investigate the Safety and Pharmacokinetics of Nab®-Paclitaxel (ABI-007) Plus Gemcitabine in Subjects With Advanced Pancreatic Cancer Who Have Cholestatic Hyperbilirubinemia Secondary to Bile Duct Obstruction Terminated NCT02267707 Phase 1 nab-paclitaxel;Gemcitabine
25 Measurement of Carboxyhemoglobin by Gas Chromatography as an Index of Hemolysis in ABO-compatible and Incompatible Healthy Term Newborn Infants. Unknown status NCT00917007
26 Comparison Between Endoscopic Stenting and Cholecystojejunostomy for PreoperativeDrainage Before Pancreaticoduodenectomy Unknown status NCT01913275
27 Cycled Phototherapy: A Safer Effective Treatment for Small Premature Infants? Unknown status NCT01944696
28 Complications of Exchange Transfusion in Neonates Unknown status NCT03195049
29 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. Unknown status NCT00154960
30 The Efficacy of Oral Probiotics on Neonatal Hyperbilirubinemia Unknown status NCT03876678
31 Comparison Between Effect of Conventional, Intensive and Light Emitting Diodes (LED) Phototherapy on Oxidative Stress Among Neonates With Unconjugated Hyperbilirubinemia Unknown status NCT03074292
32 Hyperbilirubinemia After Major Cardiac or Thoracic Aorta Surgery: Predictors and Clinical Significance Unknown status NCT01617902
33 Role of Fluid Supplementation in Neonatal Unconjugated Hyperbilirubinemia Unknown status NCT03684499
34 Trial of a New Phototherapy Device for Treating Hyperbilirubinemia in Crigler-Najjar Patients : a New Concept Unknown status NCT02356978
35 Point-of-Care System for Determination of Bilirubin Capacity in Neonates Unknown status NCT02612207
36 Chest Shielding for Prevention of a Patent Ductus Arteriosus in Preterm Infants Receiving Phototherapy Effect of Phototherapy Unknown status NCT03675425
37 Bilirubin Binding Capacity to Assess Bilirubin Load in Preterm Infants Unknown status NCT02691156
38 Risk Factors, Hepatic Dysfunction, and Open-heart Surgery Completed NCT04271098
39 Effectiveness, Safety and Perceptions With the Use of One Phototherapy LED Device: a Sleeping Bag for Hospital Treatment of Neonatal Jaundice Completed NCT03570775
40 Effectiveness, Safety and Perceptions With the Use of One LED Blanket Device in the Ambulatory Treatment of Neonatal Jaundice Completed NCT03569254
41 The Predictors of the Neonatal Hyperbilirubinemia Completed NCT00154999
42 A 4-Year Follow-up, Blinded-Outcomes Trial of Subjects Having Received Stannsoporfin or Placebo in Clinical Trial 64,185-202 Completed NCT02033096 Stannsoporfin;Placebo Control
43 Baseline Assessment of Neonatal Hyperbilirubinaemia in a Cohort of New-borns in Kinshasa, Democratic Republic of Congo Completed NCT03880591
44 Dose-response Relationship of Phototherapy for Hyperbilirubinaemia Using Diodes: is There a "Saturation Point"? Completed NCT01470820
45 Investigating the Preventive Potential of Bilirubin Completed NCT04792996
46 Aluminium Foil as an Adjuvant to Phototherapy for Pathological Unconjugated Hyperbilirubinaemia in Full Term Infants: Randomised Control Trial Completed NCT04433923
47 A Retrospective Study Investigating the Diagnostic Value of Hyperbilirubinaemia as a Predictive Factor for Appendiceal Perforation in Acute Appendicitis Completed NCT00677417
48 Influence of Hyperbilirubinaemia on Foresight and INVOS Oximetry Values in Pediatric Hepatic Transplantation Completed NCT03945942
49 The Use of Glycerin Suppositories to Reduce Hyperbilirubinemia in Premature Infants Requiring Phototherapy Completed NCT01746511 glycerin suppository
50 Follow-up of Extreme Neonatal Hyperbilirubinemia in 5-10 Year Old Children: a Danish Population Based Study Completed NCT01599611

Search NIH Clinical Center for Bilirubin Metabolic Disorder

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Phenobarbital
Phenobarbital Sodium

Cochrane evidence based reviews: hyperbilirubinemia

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Genetic Tests for Bilirubin Metabolic Disorder

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Genetic tests related to Bilirubin Metabolic Disorder:

# Genetic test Affiliating Genes
1 Hyperbilirubinemia 29
Sources

Anatomical Context for Bilirubin Metabolic Disorder

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MalaCards organs/tissues related to Bilirubin Metabolic Disorder:

40
Liver, Myeloid, Kidney, Bone Marrow, Heart, Brain, Breast
Sources

Publications for Bilirubin Metabolic Disorder

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Articles related to Bilirubin Metabolic Disorder:

(show top 50) (show all 7897)
# Title Authors PMID Year
1
Exploring the genetic architecture of neonatal hyperbilirubinemia. 61 54
20022574 2010
2
Hyperbilirubinemia in African American neonates: clinical issues and current challenges. 61 54
19932984 2010
3
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. 61 54
20426517 2010
4
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. 61 54
20376801 2010
5
Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. 54 61
20389299 2010
6
Posttransplantation calcineurin inhibitor-induced hemolytic uremic syndrome: single-center experience. 54 61
20430179 2010
7
Effect of albumin administration prior to exchange transfusion in term neonates with hyperbilirubinemia--a randomized controlled trial. 54 61
19578230 2010
8
Developmental hyperbilirubinemia and CNS toxicity in mice humanized with the UDP glucuronosyltransferase 1 (UGT1) locus. 54 61
20194756 2010
9
Hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient male newborns in Al-Ahsa, Saudi Arabia. 54 61
20174734 2010
10
A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns. 61 54
20402064 2010
11
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. 61 54
19830808 2010
12
Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. 61 54
20051781 2010
13
Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia. 54 61
20514852 2009
14
Prolonged unconjugated hyperbiliriubinemia in breast-fed male infants with a mutation of uridine diphosphate-glucuronosyl transferase. 61 54
19683255 2009
15
UGT1A1 polymorphism and hyperbilirubinemia in a patient who received sorafenib. 61 54
19672597 2009
16
Complex multifactorial nature of significant hyperbilirubinemia in neonates. 54 61
19858149 2009
17
Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes. 54 61
19572200 2009
18
Homozygous variant of UGT1A1 gene mutation and severe neonatal hyperbilirubinemia. 61 54
19674361 2009
19
Effective bilirubin reduction by single-pass albumin dialysis in liver failure. 61 54
19624591 2009
20
Genetic polymorphisms in Thai neonates with hyperbilirubinemia. 61 54
19397531 2009
21
Gilbert's syndrome and antiviral therapy of hepatitis C. 54 61
19841506 2009
22
Allo-SCT conditioning for myelodysplastic syndrome and acute myeloid leukemia with clofarabine, cytarabine and ATG. 54 61
19139740 2009
23
UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia. 54 61
19430380 2009
24
Identification of neonates at risk for hazardous hyperbilirubinemia: emerging clinical insights. 61 54
19501698 2009
25
Gilbert's syndrome and hyperbilirubinemia in protease inhibitor therapy--an extended haplotype of genetic variants increases risk in indinavir treatment. 61 54
19303655 2009
26
A hemolysis trigger in glucose-6-phosphate dehydrogenase enzyme deficiency. Vicia sativa (Vetch). 54 61
19198723 2009
27
Oxidative challenge and glucose-6-phosphate dehydrogenase activity of preterm and term neonatal red blood cells. 61 54
19258737 2009
28
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. 54 61
19881259 2009
29
Reyes's syndrome, encephalopathy, hyperammonemia and acetyl salicylic acid ingestion in a city hospital of Buenos Aires, Argentina. 54 61
19149521 2009
30
UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia. 54 61
18756540 2008
31
Variations in the UDP-glucuronosyltransferase 1A1 gene for the development of unconjugated hyperbilirubinemia in Taiwanese. 61 54
18781851 2008
32
Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates. 54 61
19675737 2008
33
Inhibitors of the heme oxygenase - carbon monoxide system: on the doorstep of the clinic? 61 54
18758507 2008
34
The right small-for-size graft results in better outcomes than the left small-for-size graft in adult-to-adult living donor liver transplantation. 61 54
18553047 2008
35
Hemopexin prevents endothelial damage and liver congestion in a mouse model of heme overload. 54 61
18556779 2008
36
Efficacy of clofibrate on severe neonatal jaundice associated with glucose-6-phosphate dehydrogenase deficiency (a randomized clinical trial). 61 54
18564698 2008
37
Adjuvant therapeutic plasma exchange in liver failure: assessments of clinical and laboratory parameters. 61 54
18344887 2008
38
Clinical and cranial magnetic resonance imaging (MRI) findings of 21 patients with serious hyperbilirubinemia. 54 61
18182649 2008
39
Influence of gender on the ratio of serum aspartate aminotransferase (AST) to alanine aminotransferase (ALT) in patients with and without hyperbilirubinemia. 54 61
17717745 2008
40
Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease. 61 54
18180294 2008
41
Acute Q fever in southern Taiwan: atypical manifestations of hyperbilirubinemia and prolonged fever. 61 54
17949935 2008
42
(TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates. 54 61
18043502 2008
43
Drug-induced hyperbilirubinemia and the clinical influencing factors. 61 54
18821100 2008
44
Severe hyperbilirubinemia in a glucose-6-phosphate dehydrogenase-deficient preterm neonate: could prematurity be the main responsible factor? 54 61
19023210 2008
45
Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects. 54 61
18324905 2008
46
Somatostatin and propranolol to treat small-for-size syndrome that occurred despite splenic artery ligation. 54 61
18194122 2007
47
UGT1A1 promoter polymorphism increases risk of nilotinib-induced hyperbilirubinemia. 54 61
17611564 2007
48
Comparison of serology assays and polymerase chain reaction for the monitoring of active cytomegalovirus infection in renal transplant recipients. 61 54
18021976 2007
49
Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al. 61 54
17726772 2007
50
Antioxidant vitamins and hyperbilirubinemia in neonates. 61 54
19675711 2007
Sources

Variations for Bilirubin Metabolic Disorder

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ClinVar genetic disease variations for Bilirubin Metabolic Disorder:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6509_862-6508insGTAC Insertion Pathogenic 212544 rs797046090 GRCh37: 2:234669170-234669171
GRCh38: 2:233760524-233760525
2 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6031AG[3] Microsatellite Pathogenic 212545 rs797046091 GRCh37: 2:234669649-234669650
GRCh38: 2:233761003-233761004
3 F12 , SLC34A1 NM_000505.3(F12):c.983C>G (p.Thr328Arg) SNV Pathogenic 1170 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
4 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) SNV Pathogenic 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
5 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1081+1G>T SNV Pathogenic 160229 rs587784535 GRCh37: 2:234676583-234676583
GRCh38: 2:233767937-233767937
6 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) SNV Likely pathogenic 212543 rs34946978 GRCh37: 2:234676872-234676872
GRCh38: 2:233768226-233768226
7 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6268T>A SNV Uncertain significance 160238 rs587784540 GRCh37: 2:234669412-234669412
GRCh38: 2:233760766-233760766
8 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6271T>C SNV Uncertain significance 160237 rs587784539 GRCh37: 2:234669409-234669409
GRCh38: 2:233760763-233760763
9 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6425C>T SNV Uncertain significance 160236 rs587784538 GRCh37: 2:234669255-234669255
GRCh38: 2:233760609-233760609
10 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6606C>A SNV Uncertain significance 160233 rs34526305 GRCh37: 2:234669074-234669074
GRCh38: 2:233760428-233760428
11 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1410G>A (p.Ala470=) SNV Uncertain significance 160232 rs587784537 GRCh37: 2:234681016-234681016
GRCh38: 2:233772370-233772370
12 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1351G>T (p.Val451Leu) SNV Uncertain significance 160231 rs587784536 GRCh37: 2:234680957-234680957
GRCh38: 2:233772311-233772311
13 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1228G>T (p.Val410Leu) SNV Uncertain significance 160230 rs36076514 GRCh37: 2:234677012-234677012
GRCh38: 2:233768366-233768366
14 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.993+15T>C SNV Uncertain significance 160241 rs4148327 GRCh37: 2:234675826-234675826
GRCh38: 2:233767180-233767180
15 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6073T>G SNV Uncertain significance 160239 rs35003977 GRCh37: 2:234669607-234669607
GRCh38: 2:233760961-233760961
16 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5999T>C SNV Uncertain significance 160240 rs57307513 GRCh37: 2:234669681-234669681
GRCh38: 2:233761035-233761035
17 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6606C>T SNV Uncertain significance 160234 rs34526305 GRCh37: 2:234669074-234669074
GRCh38: 2:233760428-233760428
Sources

Expression for Bilirubin Metabolic Disorder

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Search GEO for disease gene expression data for Bilirubin Metabolic Disorder.
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Pathways for Bilirubin Metabolic Disorder

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Pathways related to Bilirubin Metabolic Disorder according to KEGG:

36
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860
2 ABC transporters hsa02010
3 Bile secretion hsa04976

Pathways related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 14.06 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2
Cytochrome P450 - arranged by substrate type 65
Show member pathways
 13.23 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3
Drug metabolism - cytochrome P450 36
Show member pathways
 12.92 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4
Glucose / Energy Metabolism 4
12.55 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5
Biosynthesis of cofactors 36
Show member pathways
 12.31 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6
Porphyrin and chlorophyll metabolism 36
Show member pathways
 12.26 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7
NRF2 pathway 1
12.24 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
8
Statin Pathway - Generalized, Pharmacokinetics 60
Show member pathways
 12.08 UGT1A9 UGT1A3 UGT1A1 SLCO1B1 SLC22A7 ABCC2
9
Acetaminophen Pathway (therapeutic doses), Pharmacokinetics 60
Show member pathways
 11.87 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
10
Clomipramine Pathway, Pharmacokinetics 60
Show member pathways
 11.85 UGT1A4 UGT1A3 SLCO1B1
11
Phenytoin Pathway, Pharmacokinetics 60
Show member pathways
 11.76 UGT1A9 UGT1A6 UGT1A4 UGT1A1 ABCC2
12
Codeine and Morphine Metabolism 1
Show member pathways
 11.76 UGT1A9 UGT1A8 UGT1A3 UGT1A10 UGT1A1 SLCO1B1
13
Steroid hormone biosynthesis 36
Show member pathways
 11.74 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
14
Aryl Hydrocarbon Receptor Pathway 1
11.68 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
15
Pentose and glucuronate interconversions 36
Show member pathways
 11.66 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
16
Estrogen metabolism 1
Show member pathways
 11.52 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
17
Constitutive Androstane Receptor Pathway 1
11.48 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1 ABCC2
18
Tamoxifen metabolism 1
Show member pathways
 11.47 UGT1A8 UGT1A4 UGT1A3 UGT1A10
19
Irinotecan Pathway, Pharmacokinetics 60
Show member pathways
 11.43 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
20
Bile secretion 36
11.36 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
21
Erlotinib Pathway, Pharmacokinetics 60
Show member pathways
 11.33 UGT1A9 UGT1A7 UGT1A1
22
Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics 60
10.94 UGT1A4 UGT1A3 ABCC2
23
Bupropion Pathway, Pharmacokinetics 60
10.94 UGT1A9 UGT1A4 UGT1A3
24
Drug Induction of Bile Acid Pathway 1
10.86 SLCO1B1 ABCC2
25
Cori Cycle 1
10.83 GPT G6PD
26
Hydrocodone pathway, pharmacokinetics 60
Show member pathways
 10.66 UGT1A3 UGT1A1
27
Propranolol Pathway, Pharmacokinetics 60
10.57 UGT1A9 UGT1A10
Sources

GO Terms for Bilirubin Metabolic Disorder

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Cellular components related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 endoplasmic reticulum GO:0005783 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 endoplasmic reticulum membrane GO:0005789 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Biological processes related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 flavonoid glucuronidation GO:0052696 9.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2 negative regulation of catalytic activity GO:0043086 9.75 UGT1A1 UGT1A7 UGT1A8
3 acute-phase response GO:0006953 9.72 F2 HP UGT1A1
4 retinoic acid metabolic process GO:0042573 9.72 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
5 estrogen metabolic process GO:0008210 9.71 UGT1A1 UGT1A3 UGT1A7
6 drug metabolic process GO:0017144 9.7 UGT1A1 UGT1A7 UGT1A8
7 negative regulation of fatty acid metabolic process GO:0045922 9.67 UGT1A1 UGT1A10 UGT1A4 UGT1A8
8 flavone metabolic process GO:0051552 9.65 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
9 organic anion transport GO:0015711 9.63 ABCC2 SLC22A7 SLCO1B1
10 negative regulation of glucuronosyltransferase activity GO:1904224 9.61 UGT1A1 UGT1A10 UGT1A4
11 xenobiotic glucuronidation GO:0052697 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
12 blood coagulation, intrinsic pathway GO:0007597 9.59 F12 F2
13 positive regulation of blood coagulation GO:0030194 9.58 F12 F2
14 negative regulation of cellular glucuronidation GO:2001030 9.58 UGT1A1 UGT1A10 UGT1A4
15 coumarin metabolic process GO:0009804 9.57 UGT1A7 UGT1A8
16 heme catabolic process GO:0042167 9.56 UGT1A1 UGT1A4
17 bilirubin conjugation GO:0006789 9.51 UGT1A1 UGT1A4
18 negative regulation of steroid metabolic process GO:0045939 9.49 UGT1A1 UGT1A8
19 vitamin D3 metabolic process GO:0070640 9.48 UGT1A3 UGT1A4
20 cellular glucuronidation GO:0052695 9.23 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

Molecular functions related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.13 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 protein homodimerization activity GO:0042803 10.06 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 enzyme binding GO:0019899 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 protein heterodimerization activity GO:0046982 9.92 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
5 transferase activity, transferring glycosyl groups GO:0016757 9.91 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6 retinoic acid binding GO:0001972 9.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
7 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
8 glucuronosyltransferase activity GO:0015020 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.49 SLCO1B1 SLC22A7
10 organic anion transmembrane transporter activity GO:0008514 9.48 SLC22A7 ABCC2
11 UDP-glycosyltransferase activity GO:0008194 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
Sources

Sources for Bilirubin Metabolic Disorder

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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