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MCID: BLR008
MIFTS: 58

Bilirubin Metabolic Disorder

Categories: Blood diseases, Genetic diseases, Metabolic diseases
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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 11 14
Hyperbilirubinemia 11 75 28 53 5 43 14 71
Hereditary Hyperbilirubinemia 11 28 75
Hyperbilirubinemia, Hereditary 43 71
Hyperbilirubinaemia 11

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 31


External Ids:

Disease Ontology 11 DOID:2741
NCIt 49 C84761
SNOMED-CT 68 154770008
ICD10 31 E80.6 E80.7
UMLS 71 C0020433 C0020435
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Summaries for Bilirubin Metabolic Disorder

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Disease Ontology: 11 An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.

MalaCards based summary: Bilirubin Metabolic Disorder, also known as hyperbilirubinemia, is related to gilbert syndrome and crigler-najjar syndrome, type i, 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 Metabolism and Metapathway biotransformation Phase I and II. The drugs Oxytocin and Zinc cation have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and breast.

Wikipedia 75 Hereditary hyperbilirubinemia: Hereditary hyperbilirubinemia refers to the condition where levels of bilirubin are elevated, for... more...

Hyperbilirubinemia: Bilirubin (BR) (Latin for "red bile") is a red-orange compound that occurs in the normal catabolic... 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 690)
# Related Disease Score Top Affiliating Genes
1 gilbert syndrome 32.7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 crigler-najjar syndrome, type i 32.7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 kernicterus 31.8 UGT1A9 UGT1A8 UGT1A6 UGT1A5 UGT1A3 UGT1A10
4 glucosephosphate dehydrogenase deficiency 31.7 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 SLC22A7 HP
5 neonatal jaundice 31.7 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 G6PD ALB
6 hemolytic anemia 31.3 UGT1A1 HP G6PD ALB
7 thalassemia 31.3 UGT1A1 HP GPT G6PD F2 ALB
8 crigler-najjar syndrome, type ii 31.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 hyperbilirubinemia, transient familial neonatal 31.2 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10 cholelithiasis 31.2 UGT1A8 UGT1A6 UGT1A1 HP GPT ALB
11 intrahepatic cholestasis 31.1 SLCO1B1 GPT ALB ABCC2
12 bilirubin, serum level of, quantitative trait locus 1 31.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
13 deficiency anemia 31.1 HP GPT G6PD F2 ALB
14 liver disease 31.1 UGT1A1 SLCO1B1 GPT F2 ALB ABCC2
15 hepatitis a 31.1 GPT G6PD F2 ALB
16 anemia, nonspherocytic hemolytic, due to g6pd deficiency 31.1 HP G6PD ALB
17 choledocholithiasis 31.1 UGT1A1 GPT F2 ALB
18 blood group incompatibility 31.0 UGT1A8 UGT1A1 G6PD ALB
19 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 31.0 UGT1A8 UGT1A6 UGT1A1
20 beta-thalassemia 31.0 UGT1A1 GPT G6PD F2
21 hemoglobinopathy 30.9 HP GPT G6PD F2 ALB
22 exanthem 30.9 GPT F2 ALB
23 pyuria 30.9 GPT F2 ALB
24 urinary tract infection 30.9 GPT F2 ALB
25 portal vein thrombosis 30.8 GPT F2 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 30.7 GPT F2 ALB
30 hemorrhagic disease 30.7 GPT F2 ALB
31 biliary atresia 30.7 GPT F2 ALB
32 alcohol use disorder 30.7 GPT F2 ALB
33 cholestasis 30.7 SLCO1B1 GPT F2 ABCC2
34 substance abuse 30.7 GPT F2 ALB
35 hyperthyroidism 30.7 GPT F2 ALB
36 primary biliary cholangitis 30.6 SLCO1B1 GPT F2 ALB ABCC2
37 hemochromatosis, type 1 30.6 HP GPT F2 ALB
38 klatskin's tumor 30.6 GPT F2 ALB
39 cardiac tamponade 30.6 GPT F2 ALB
40 hemolytic uremic syndrome, atypical 1 30.6 HP F2 ALB
41 sickle cell anemia 30.6 UGT1A8 UGT1A6 UGT1A1 HP G6PD F2
42 chickenpox 30.6 GPT F2 ALB
43 hereditary spherocytosis 30.6 UGT1A8 UGT1A6 UGT1A1 HP G6PD
44 alpha-thalassemia 30.6 UGT1A8 UGT1A6 UGT1A1 HP G6PD
45 hepatitis e 30.6 GPT F2 ALB
46 sclerosing cholangitis 30.6 HP GPT F2 ALB
47 cholangitis 30.6 HP GPT F2 ALB
48 cholecystitis 30.6 HP GPT F2 ALB
49 acalculous cholecystitis 30.6 GPT F2 ALB
50 hepatic coma 30.6 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 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
2
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
3
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
4
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
5 Immunoglobulins Phase 4
6 Antibodies Phase 4
7 Trace Elements Phase 4
8 Micronutrients Phase 4
9 Immunologic Factors Phase 4
10 Atazanavir Sulfate Phase 4
11 Immunoglobulins, Intravenous Phase 4
12 gamma-Globulins Phase 4
13 Rho(D) Immune Globulin Phase 4
14 Dermatologic Agents Phase 4
15
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2, Phase 3 1177-87-3 3680
16
Dexamethasone Approved, Investigational, Vet_approved Phase 2, Phase 3 50-02-2 3003 5743
17 Liver Extracts Phase 2, Phase 3
18 HIV Protease Inhibitors Phase 2, Phase 3
19
protease inhibitors Phase 2, Phase 3
20 Antineoplastic Agents, Hormonal Phase 2, Phase 3
21 Dexamethasone 21-phosphate Phase 2, Phase 3
22 Hormones Phase 2, Phase 3
23 Hormone Antagonists Phase 2, Phase 3
24 Antiemetics Phase 2, Phase 3
25 glucocorticoids Phase 2, Phase 3
26 BB 1101 Phase 2, Phase 3
27 Anti-Inflammatory Agents Phase 2, Phase 3
28 Gastrointestinal Agents Phase 2, Phase 3
29
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
30
Inotuzumab ozogamicin Approved, Investigational Phase 2 635715-01-4
31
Asparaginase Escherichia coli Approved, Investigational Phase 2 9015-68-3
32
Pegaspargase Approved, Investigational Phase 2 130167-69-0
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
34
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 2 461-06-3
35 Folate Phase 2
36 Vitamins Phase 2
37 Vitamin B9 Phase 2
38 Vitamin B Complex Phase 2
39 Hematinics Phase 2
40 Tin mesoporphyrin Phase 2
41
Ethiodized oil Approved, Investigational Phase 1 8008-53-5
42
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
43
Gemcitabine Approved Phase 1 95058-81-4, 122111-03-9 60750
44
Chlorotrianisene Investigational, Withdrawn Phase 1 569-57-3 11289
45 Anti-Retroviral Agents Phase 1
46 Anti-HIV Agents Phase 1
47 Antimetabolites Phase 1
48 Antiviral Agents Phase 1
49 Albumin-Bound Paclitaxel Phase 1
50 Anti-Infective Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 114)
# 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 A Randomized Trial of Aggressive or Conservative Phototherapy for Extremely Low Birth Weight Infants Completed NCT00114543 Phase 3
10 Effect of Lipid Intake on Direct Hyperbilirubinemia in Late Preterm and Term Infants With Gastrointestinal Surgical Problems. Completed NCT01555957 Phase 3 intravenous lipid
11 Routine Use of Transcutaneous Bilirubinometry Reduces the Need for Blood Sampling in Neonates With Jaundice Completed NCT00653874 Phase 3
12 Improving Health Outcomes for New Mothers and Babies Completed NCT00360204 Phase 3
13 The Effects of Dexamethasone Administration on Jaundice Following Liver Resection: a Randomized Controlled Trial Completed NCT02991339 Phase 2, Phase 3 Dexamethasone
14 Cycled Phototherapy: A Safer Effective Method to Control the Serum Bilirubin Of Extremely Premature Infants? Recruiting NCT03927833 Phase 3
15 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
16 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
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 An Open-Label Study of the Safety and Clinical Pharmacology of Stanate® in Infants At-Risk for Exchange Transfusion Completed NCT00115544 Phase 2 Stanate
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 Completed 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 Safe Threshold to Discontinue Phototherapy in Term and Late Preterm Infant With Hemolytic Disease of Newborn: A Randomized Controlled Trial Unknown status NCT04218318
26 Comparison of Double Pad Fiber Optic Device Versus Conventional Phototherapy for Treatment of Neonatal Hyperbilirubinemia Unknown status NCT04585828
27 Comparison Between Effect of Conventional, Intensive and Light Emitting Diodes (LED) Phototherapy on Oxidative Stress Among Neonates With Unconjugated Hyperbilirubinemia Unknown status NCT03074292
28 Investigation of the Effect of Support Provided for Breastfeeding and the Feeding of Infants' With Breast Milk on Hospitalization Due to Jaundice Unknown status NCT04445675
29 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform. Unknown status NCT00154960
30 A Prospective Cohort Study on the Etiology of Neonatal Hyperbilirubinemia in a Migrant and Refugee Population on the Thai-Myanmar Border Unknown status NCT02361788
31 The Influence of Phototherapy Lights on the Measurement of Oxygen Saturation With Pulse Oximeter in Newborns. Unknown status NCT04494217
32 Effect of Phototherapy on Serum Level of Calcium in Infants With Hyperbilirubinemia Unknown status NCT04215601
33 Role of Fluid Supplementation in Neonatal Unconjugated Hyperbilirubinemia Unknown status NCT03684499
34 Hyperbilirubinemia After Major Cardiac or Thoracic Aorta Surgery: Predictors and Clinical Significance Unknown status NCT01617902
35 Trial of a New Phototherapy Device for Treating Hyperbilirubinemia in Crigler-Najjar Patients : a New Concept Unknown status NCT02356978
36 Cycled Phototherapy: A Safer Effective Treatment for Small Premature Infants? Unknown status NCT01944696
37 Chest Shielding for Prevention of a Patent Ductus Arteriosus in Preterm Infants Receiving Phototherapy Effect of Phototherapy Unknown status NCT03675425
38 The Use of Glycerin Suppositories to Reduce Hyperbilirubinemia in Premature Infants Requiring Phototherapy Completed NCT01746511 glycerin suppository
39 Baseline Assessment of Neonatal Hyperbilirubinaemia in a Cohort of New-borns in Kinshasa, Democratic Republic of Congo Completed NCT03880591
40 A Four-Year Blinded Outcomes Follow-up Study of Patients Who Received Stannsoporfin or Placebo in Clinical Trial 64,185-204 Completed NCT02000830 Stannsoporfin;Placebo
41 Multi-center Clinical Study on Early Screening and Treatment of Hyperbilirubinemia of Term and Late-preterm Neonates Completed NCT03824990
42 Is Primiparity a Risk Factor for Neonatal Hyperbilirubinemia? Completed NCT03329040
43 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
44 Identification of Jaundice in Newborns Using Smartphones Completed NCT04182555
45 Conventional Versus LED Phototherapy and Their Effect on Lymphocytes Subsets of Full Term Neonates With Hyperbilirubinemia Completed NCT04373980
46 Evaluation of a Smartphone Based Optical Diagnostic Tool for Neonatal Jaundice Completed NCT03007563
47 Bilicurves: Using Information Technology to Integrate Clinical Practice Guidelines Into the Management of Neonatal Hyperbilirubinemia Completed NCT00801619
48 Comparison of Phototherapy Using Neolight Skylife Versus Standardized Phototherapy for Hyperbilirubinemia in Newborns Completed NCT03599258
49 Effects of Probiotics on Neonatal Hyperbilirubinemia Completed NCT02807246
50 Influence of Umbilical Cord Clamping Time in the Newborn, Secondary Neonatal Morbidity and Iron Deposits in the Neonate Completed NCT03624335

Search NIH Clinical Center for Bilirubin Metabolic Disorder

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Phenobarbital
Phenobarbital Sodium

Cochrane evidence based reviews: hyperbilirubinemia

Sources

Genetic Tests for Bilirubin Metabolic Disorder

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Genetic tests related to Bilirubin Metabolic Disorder:

# Genetic test Affiliating Genes
1 Hyperbilirubinemia 28
2 Hereditary Hyperbilirubinemia 28
Sources

Anatomical Context for Bilirubin Metabolic Disorder

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Organs/tissues related to Bilirubin Metabolic Disorder:

MalaCards : Liver, Bone Marrow, Breast, Heart, Bone, Brain, Myeloid
Sources

Publications for Bilirubin Metabolic Disorder

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Articles related to Bilirubin Metabolic Disorder:

(show top 50) (show all 9930)
# Title Authors PMID Year
1
Hyperbilirubinemia in African American neonates: clinical issues and current challenges. 53 62
19932984 2010
2
Exploring the genetic architecture of neonatal hyperbilirubinemia. 53 62
20022574 2010
3
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. 53 62
20426517 2010
4
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. 53 62
20376801 2010
5
Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. 53 62
20389299 2010
6
Posttransplantation calcineurin inhibitor-induced hemolytic uremic syndrome: single-center experience. 53 62
20430179 2010
7
Developmental hyperbilirubinemia and CNS toxicity in mice humanized with the UDP glucuronosyltransferase 1 (UGT1) locus. 53 62
20194756 2010
8
Effect of albumin administration prior to exchange transfusion in term neonates with hyperbilirubinemia--a randomized controlled trial. 53 62
19578230 2010
9
Hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient male newborns in Al-Ahsa, Saudi Arabia. 53 62
20174734 2010
10
A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns. 53 62
20402064 2010
11
Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. 53 62
20051781 2010
12
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. 53 62
19830808 2010
13
UGT1A1 polymorphism and hyperbilirubinemia in a patient who received sorafenib. 53 62
19672597 2009
14
Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia. 53 62
20514852 2009
15
Prolonged unconjugated hyperbiliriubinemia in breast-fed male infants with a mutation of uridine diphosphate-glucuronosyl transferase. 53 62
19683255 2009
16
Complex multifactorial nature of significant hyperbilirubinemia in neonates. 53 62
19858149 2009
17
Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes. 53 62
19572200 2009
18
Homozygous variant of UGT1A1 gene mutation and severe neonatal hyperbilirubinemia. 53 62
19674361 2009
19
Effective bilirubin reduction by single-pass albumin dialysis in liver failure. 53 62
19624591 2009
20
Genetic polymorphisms in Thai neonates with hyperbilirubinemia. 53 62
19397531 2009
21
Gilbert's syndrome and antiviral therapy of hepatitis C. 53 62
19841506 2009
22
Allo-SCT conditioning for myelodysplastic syndrome and acute myeloid leukemia with clofarabine, cytarabine and ATG. 53 62
19139740 2009
23
UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia. 53 62
19430380 2009
24
Identification of neonates at risk for hazardous hyperbilirubinemia: emerging clinical insights. 53 62
19501698 2009
25
Gilbert's syndrome and hyperbilirubinemia in protease inhibitor therapy--an extended haplotype of genetic variants increases risk in indinavir treatment. 53 62
19303655 2009
26
A hemolysis trigger in glucose-6-phosphate dehydrogenase enzyme deficiency. Vicia sativa (Vetch). 53 62
19198723 2009
27
Oxidative challenge and glucose-6-phosphate dehydrogenase activity of preterm and term neonatal red blood cells. 53 62
19258737 2009
28
Reyes's syndrome, encephalopathy, hyperammonemia and acetyl salicylic acid ingestion in a city hospital of Buenos Aires, Argentina. 53 62
19149521 2009
29
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. 53 62
19881259 2009
30
UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia. 53 62
18756540 2008
31
Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates. 53 62
19675737 2008
32
Variations in the UDP-glucuronosyltransferase 1A1 gene for the development of unconjugated hyperbilirubinemia in Taiwanese. 53 62
18781851 2008
33
Inhibitors of the heme oxygenase - carbon monoxide system: on the doorstep of the clinic? 53 62
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. 53 62
18553047 2008
35
Hemopexin prevents endothelial damage and liver congestion in a mouse model of heme overload. 53 62
18556779 2008
36
Efficacy of clofibrate on severe neonatal jaundice associated with glucose-6-phosphate dehydrogenase deficiency (a randomized clinical trial). 53 62
18564698 2008
37
Adjuvant therapeutic plasma exchange in liver failure: assessments of clinical and laboratory parameters. 53 62
18344887 2008
38
Clinical and cranial magnetic resonance imaging (MRI) findings of 21 patients with serious hyperbilirubinemia. 53 62
18182649 2008
39
Influence of gender on the ratio of serum aspartate aminotransferase (AST) to alanine aminotransferase (ALT) in patients with and without hyperbilirubinemia. 53 62
17717745 2008
40
Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease. 53 62
18180294 2008
41
Acute Q fever in southern Taiwan: atypical manifestations of hyperbilirubinemia and prolonged fever. 53 62
17949935 2008
42
Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism. 53 62
18392554 2008
43
Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects. 53 62
18324905 2008
44
Drug-induced hyperbilirubinemia and the clinical influencing factors. 53 62
18821100 2008
45
Severe hyperbilirubinemia in a glucose-6-phosphate dehydrogenase-deficient preterm neonate: could prematurity be the main responsible factor? 53 62
19023210 2008
46
(TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates. 53 62
18043502 2008
47
Somatostatin and propranolol to treat small-for-size syndrome that occurred despite splenic artery ligation. 53 62
18194122 2007
48
UGT1A1 promoter polymorphism increases risk of nilotinib-induced hyperbilirubinemia. 53 62
17611564 2007
49
Comparison of serology assays and polymerase chain reaction for the monitoring of active cytomegalovirus infection in renal transplant recipients. 53 62
18021976 2007
50
Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al. 53 62
17726772 2007
Sources

Variations for Bilirubin Metabolic Disorder

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ClinVar genetic disease variations for Bilirubin Metabolic Disorder:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F12, SLC34A1 NM_000505.4(F12):c.983C>G (p.Thr328Arg) SNV Pathogenic
 1170 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
2 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs) INSERT Pathogenic
 212544 rs797046090 GRCh37: 2:234669170-234669171
GRCh38: 2:233760524-233760525
3 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) MICROSAT Pathogenic
 212545 rs797046091 GRCh37: 2:234669649-234669650
GRCh38: 2:233761003-233761004
4 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1084+1G>T SNV Pathogenic
 160229 rs587784535 GRCh37: 2:234676583-234676583
GRCh38: 2:233767937-233767937
5 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) SNV Pathogenic
 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
6 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) 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_000463.3(UGT1A1):c.674T>G (p.Val225Gly) SNV Uncertain Significance
 160239 rs35003977 GRCh37: 2:234669607-234669607
GRCh38: 2:233760961-233760961
8 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) SNV Uncertain Significance
 160240 rs57307513 GRCh37: 2:234669681-234669681
GRCh38: 2:233761035-233761035
9 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) SNV Uncertain Significance
 160230 rs36076514 GRCh37: 2:234677012-234677012
GRCh38: 2:233768366-233768366
10 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) SNV Uncertain Significance
 160234 rs34526305 GRCh37: 2:234669074-234669074
GRCh38: 2:233760428-233760428
11 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.996+15T>C SNV Uncertain Significance
 160241 rs4148327 GRCh37: 2:234675826-234675826
GRCh38: 2:233767180-233767180
12 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) SNV Uncertain Significance
 160236 rs587784538 GRCh37: 2:234669255-234669255
GRCh38: 2:233760609-233760609
13 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu) SNV Uncertain Significance
 160231 rs587784536 GRCh37: 2:234680957-234680957
GRCh38: 2:233772311-233772311
14 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=) SNV Uncertain Significance
 160232 rs587784537 GRCh37: 2:234681016-234681016
GRCh38: 2:233772370-233772370
15 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.141C>A (p.Ile47=) SNV Uncertain Significance
 160233 rs34526305 GRCh37: 2:234669074-234669074
GRCh38: 2:233760428-233760428
16 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr) SNV Uncertain Significance
 160237 rs587784539 GRCh37: 2:234669409-234669409
GRCh38: 2:233760763-233760763
17 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu) SNV Uncertain Significance
 160238 rs587784540 GRCh37: 2:234669412-234669412
GRCh38: 2:233760766-233760766
Sources

Expression for Bilirubin Metabolic Disorder

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

Pathways for Bilirubin Metabolic Disorder

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Pathways directly related to Bilirubin Metabolic Disorder:

# Pathway Source
1 Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) Reactome 66
2 Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR) Reactome 66
3 Defective UGT1A4 causes hyperbilirubinemia Reactome 66
4 Defective UGT1A1 causes hyperbilirubinemia Reactome 66

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.76 ABCC2 ALB G6PD GPT SLCO1B1 UGT1A1
2
Metapathway biotransformation Phase I and II 74
Show member pathways
 12.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3
Nuclear receptors meta-pathway 74
Show member pathways
 12.76 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A1 SLCO1B1
4
Glucose / Energy Metabolism 3
12.18 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5
Imipramine/Desipramine Pathway, Pharmacokinetics 60
Show member pathways
 12.17 UGT1A4 UGT1A3 UGT1A1 SLCO1B1 ABCC2
6
Drug ADME 66
Show member pathways
 12.03 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7
heme biosynthesis 66 74 61
Show member pathways
 11.99 ABCC2 ALB SLCO1B1 UGT1A1 UGT1A4
8
Statin Pathway - Generalized, Pharmacokinetics 60
Show member pathways
 11.99 UGT1A9 UGT1A7 UGT1A6 UGT1A3 UGT1A10 UGT1A1
9
2q37 copy number variation syndrome 74
11.86 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A10
10
Paracetamol ADME 66
Show member pathways
 11.79 UGT1A9 UGT1A6 UGT1A10 UGT1A1 ABCC2
11
Constitutive androstane receptor pathway 74
Show member pathways
 11.74 UGT1A9 UGT1A6 UGT1A4 UGT1A1 SLCO1B1 ABCC2
12
Proximal tubule transport 74
11.53 SLC34A1 SLC22A7 ABCC2
13
Tamoxifen metabolism 74
Show member pathways
 11.5 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A10 UGT1A1
14
Methadone Pathway, Pharmacokinetics 60
Show member pathways
 11.45 UGT1A8 UGT1A6 UGT1A3 ABCC2
15
Erlotinib Pathway, Pharmacokinetics 60
Show member pathways
 11.32 UGT1A9 UGT1A7 UGT1A1
16
Estrogen metabolism 74
Show member pathways
 11.32 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
17
Bupropion Pathway, Pharmacokinetics 60
Show member pathways
 11.24 UGT1A9 UGT1A4 UGT1A3 ABCC2
18
Nicotine Pathway, Pharmacokinetics 60
Show member pathways
 11.09 UGT1A9 UGT1A4 UGT1A1
19
2-Naphthylamine and 2-Nitronaphtalene metabolism 22
11.08 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
20
Methotrexate Pathway, Pharmacokinetics 60
Show member pathways
 10.93 SLCO1B1 ABCC2
21
FOXA2 pathway 74
10.92 SLCO1B1 ABCC2
22
Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics 60
10.92 UGT1A4 UGT1A3 ABCC2
23
Drug induction of bile acid pathway 74
10.85 SLCO1B1 ABCC2
24
Cori cycle 74
10.84 GPT G6PD
25
Propranolol Pathway, Pharmacokinetics 60
10.56 UGT1A9 UGT1A10
26
thyroid hormone metabolism II (via conjugation and/or degradation) 61
10.29 UGT1A8 UGT1A3
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 membrane GO:0016020 10.32 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 membrane GO:0016021 10.32 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 endoplasmic reticulum membrane GO:0005789 9.91 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 endoplasmic reticulum GO:0005783 9.62 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 liver development GO:0001889 10.21 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A10 UGT1A1
2 lipid metabolic process GO:0006629 10.19 UGT1A9 UGT1A8 UGT1A7 UGT1A4 UGT1A3 UGT1A10
3 retinoic acid metabolic process GO:0042573 10.1 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
4 acute-phase response GO:0006953 10.05 UGT1A1 HP F2
5 estrogen metabolic process GO:0008210 10.04 UGT1A7 UGT1A3 UGT1A1
6 xenobiotic glucuronidation GO:0052697 10.02 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
7 heme catabolic process GO:0042167 9.99 ABCC2 SLCO1B1 UGT1A4
8 flavone metabolic process GO:0051552 9.96 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
9 organic anion transport GO:0015711 9.95 SLCO1B1 SLC22A7 ABCC2
10 xenobiotic metabolic process GO:0006805 9.91 ABCC2 SLC22A7 SLCO1B1 UGT1A1 UGT1A10 UGT1A3
11 coumarin metabolic process GO:0009804 9.88 UGT1A8 UGT1A7
12 negative regulation of steroid metabolic process GO:0045939 9.86 UGT1A8 UGT1A1
13 flavonoid glucuronidation GO:0052696 9.85 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
14 vitamin D3 metabolic process GO:0070640 9.84 UGT1A4 UGT1A3
15 bilirubin conjugation GO:0006789 9.83 UGT1A4 UGT1A1
16 negative regulation of fatty acid metabolic process GO:0045922 9.77 UGT1A8 UGT1A4 UGT1A10 UGT1A1
17 negative regulation of cellular glucuronidation GO:2001030 9.65 UGT1A4 UGT1A10 UGT1A1
18 negative regulation of glucuronosyltransferase activity GO:1904224 9.63 UGT1A4 UGT1A10 UGT1A1
19 prostaglandin transport GO:0015732 9.59 SLCO1B1 SLC22A7
20 cellular glucuronidation GO:0052695 9.58 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 10.32 G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6
2 enzyme binding GO:0019899 10.28 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3 transferase activity GO:0016740 10.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 enzyme inhibitor activity GO:0004857 9.93 UGT1A8 UGT1A7 UGT1A1
5 organic anion transmembrane transporter activity GO:0008514 9.91 SLCO1B1 SLC22A7 ABCC2
6 glycosyltransferase activity GO:0016757 9.91 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7 glucuronosyltransferase activity GO:0015020 9.91 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
8 UDP-glycosyltransferase activity GO:0008194 9.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
9 retinoic acid binding GO:0001972 9.44 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
Sources

Sources for Bilirubin Metabolic Disorder

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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