MCID: BLR008
MIFTS: 58

Bilirubin Metabolic Disorder

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Bilirubin Metabolic Disorder

MalaCards integrated aliases for Bilirubin Metabolic Disorder:

Name: Bilirubin Metabolic Disorder 12 15
Hyperbilirubinemia 12 75 37 29 55 6 44 15 72
Hyperbilirubinemia, Hereditary 44 72
Hereditary Hyperbilirubinemia 12
Hyperbilirubinaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2741
KEGG 37 H00208
NCIt 50 C84761
SNOMED-CT 68 14783006 20505009
ICD10 33 E80.6 E80.7
UMLS 72 C0020433 C0020435

Summaries for Bilirubin Metabolic Disorder

KEGG : 37
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 Ursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and breast.

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

Wikipedia : 75 Bilirubin is a yellow compound that occurs in the normal catabolic pathway that breaks down heme in... more...

Related Diseases for Bilirubin Metabolic Disorder

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

(show top 50) (show all 485)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type i 31.6 UGT1A6 UGT1A1 UGT1A SLC35A2
2 gilbert syndrome 31.4 UGT1A8 UGT1A7 UGT1A6 UGT1A1 SLCO1B1 G6PD
3 kernicterus 31.3 UGT1A6 UGT1A1 G6PD ALB
4 glucosephosphate dehydrogenase deficiency 31.2 UGT1A1 SLCO1B1 HP G6PD
5 crigler-najjar syndrome, type ii 30.9 UGT1A8 UGT1A7 UGT1A6 UGT1A1 UGT1A
6 hepatitis a 30.8 GPT F2 ALB
7 neonatal jaundice 30.8 UGT1A1 SLCO1B1 NR1I3 HMOX1 G6PD
8 hyperbilirubinemia, rotor type 30.5 SLCO1B1 ALB ABCC2
9 cholelithiasis 30.5 UGT1A6 UGT1A1 GPT ALB
10 hepatic coma 30.5 GPT F2 ALB
11 alpha-thalassemia 30.5 UGT1A1 HP G6PD
12 bilirubin, serum level of, quantitative trait locus 1 30.4 UGT1A8 UGT1A7 UGT1A6 UGT1A1
13 sickle cell anemia 30.2 UGT1A6 UGT1A1 G6PD F2
14 hepatitis e 30.2 GPT F2 ALB
15 deficiency anemia 30.2 HP G6PD ALB
16 portal hypertension 30.1 GPT F2 ALB
17 cholecystitis 30.1 HP GPT F2 ALB
18 thrombotic thrombocytopenic purpura, congenital 30.0 HP ADAMTS13
19 acute liver failure 30.0 SLC17A5 GPT F2 ALB
20 extrahepatic cholestasis 30.0 GPT GGT1 ABCC2
21 choledocholithiasis 29.9 UGT1A1 SLC17A5 GPT F2 ALB
22 hepatitis 29.9 SLC17A5 GPT GGT1 F2
23 autoimmune hepatitis 29.7 GPT GGT1 F2
24 alcoholic liver cirrhosis 29.7 SLC17A5 F2 ALB
25 cholangitis 29.6 HP GPT GGT1 F2 ALB
26 cholangitis, primary sclerosing 29.6 GPT GGT1 ALB
27 hepatic encephalopathy 29.5 SLC17A5 GPT F2 ALB
28 liver disease 29.3 SLC17A5 GPT GGT1 F2 ALB
29 viral hepatitis 29.3 SLC17A5 GPT GGT1 F2 ALB
30 alcoholic hepatitis 29.2 SLC17A5 GPT F2 ALB ADAMTS13
31 cholestasis 29.2 SLCO1B1 NR1I3 GPT GGT1 F2 ABCC2
32 bile duct disease 29.1 GPT GGT1 F2 ALB ABCC2
33 liver cirrhosis 29.1 SLC17A5 GPT GGT1 F2 ALB
34 malaria 29.1 HP HMOX1 G6PD ALB ADAMTS13
35 biliary tract disease 29.0 NR1I3 GGT1 F2 ALB ABCC2
36 obstructive jaundice 28.9 SLC17A5 GPT GGT1 F2 ALB
37 hyperbilirubinemia, conjugated, type iii 12.4
38 dubin-johnson syndrome 11.6
39 biliary atresia, extrahepatic 11.4
40 liver failure, infantile, transient 11.4
41 obesity, early-onset, with adrenal insufficiency and red hair 11.3
42 bamforth syndrome 11.3
43 cryohydrocytosis 11.3
44 congenital intrauterine infection-like syndrome 11.3
45 bile acid synthesis defect, congenital, 1 11.1
46 stomatin-deficient cryohydrocytosis with neurologic defects 11.1
47 congenital toxoplasmosis 11.1
48 non-a-e hepatitis 10.6 F2 ALB
49 antipyrine metabolism 10.6 F2 ALB
50 hepatoportal sclerosis 10.6 GPT F2

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



Diseases related to Bilirubin Metabolic Disorder

Symptoms & Phenotypes for Bilirubin Metabolic Disorder

UMLS symptoms related to Bilirubin Metabolic Disorder:


muscle weakness, polydipsia, icterus, jaundice (not of newborn)

Drugs & Therapeutics for Bilirubin Metabolic Disorder

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

(show top 50) (show all 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
2
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
4
Methadone Approved, Illicit Phase 4 76-99-3 4095
5
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
6
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
7
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
8
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
9
Colestipol Approved Phase 4 26658-42-4
10
Zinc Approved, Investigational Phase 4 7440-66-6 32051
11
Metformin Approved Phase 4 657-24-9 4091 14219
12
Glyburide Approved Phase 4 10238-21-8 3488
13
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
14 Oxytocics Phase 4
15 Cholagogues and Choleretics Phase 4
16 Integrase Inhibitors Phase 4
17 HIV Integrase Inhibitors Phase 4
18 Narcotics Phase 4
19 Central Nervous System Depressants Phase 4
20 Respiratory System Agents Phase 4
21 Raltegravir Potassium Phase 4
22 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
23 Antitussive Agents Phase 4
24 Analgesics, Opioid Phase 4
25 HIV Protease Inhibitors Phase 4
26
protease inhibitors Phase 4
27 Anti-HIV Agents Phase 4
28 Anti-Retroviral Agents Phase 4
29 Atazanavir Sulfate Phase 4
30 Cytochrome P-450 CYP3A Inhibitors Phase 4
31 Cytochrome P-450 Enzyme Inhibitors Phase 4
32 Dermatologic Agents Phase 4
33 Astringents Phase 4
34 gamma-Globulins Phase 4
35 Immunoglobulins, Intravenous Phase 4
36 Rho(D) Immune Globulin Phase 4
37 diuretics Phase 4
38 Natriuretic Agents Phase 4
39 Sodium Potassium Chloride Symporter Inhibitors Phase 4
40 Lipid Regulating Agents Phase 4
41 Antimetabolites Phase 4
42 Hypolipidemic Agents Phase 4
43 Gastrointestinal Agents Phase 4
44 Cholestyramine Resin Phase 4
45 Colesevelam Hydrochloride Phase 4
46 Anticholesteremic Agents Phase 4
47 Bile Acids and Salts Phase 4
48 Antiviral Agents Phase 4
49 MK-5172 Phase 4
50 Hypoglycemic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 155)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study of Saccharomyces Boulardii on Indirect Hyperbilirubinemia Unknown status NCT01411761 Phase 4
2 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
3 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
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 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
6 Cholestatic Drug-induced Liver Injury: Correlation With Genotypes of UGT1A1 and 1A7, and Treatment Effect of Ursodeoxycholic Acid Unknown status NCT01141322 Phase 4 Ursodeoxycholic Acid;Placebo
7 An Open-label, Randomised Pilot Study Comparing the Efficacy, Safety and Tolerability of Raltegravir With Protease Inhibitor-based Therapy in Treatment-naïve, HIV/Hepatitis C Co-infected Injecting Drug Users Receiving Methadone Unknown status NCT01105611 Phase 4 Raltegravir;Atazanavir/Ritonavir
8 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
9 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
10 The Use of Human Albumin for the Treatment of Ascites in Patients With Hepatic Cirrhosis: a Multicenter, Open-label Randomized Clinical Trial Completed NCT01288794 Phase 4 Diuretics plus human albumin;Diuretics (standard medical treatment)
11 Treatment Effect of Colesevelam for Bile Acid Diarrhoea - a Randomised Placebo-controlled Trial Recruiting NCT03876717 Phase 4 Colesevelam Hydrochloride;Placebo oral capsule
12 Elbasvir/Grazoprevir for Treatment-naive and Treatment-experienced Patients With Hepatitis C Virus Genotype 1b Receiving Hemodialysis Active, not recruiting NCT03420300 Phase 4 EBR/GZR
13 Threshold for Initiation of Medical Treatment for Women With Gestational Diabetes: A Single Site Randomized Trial Not yet recruiting NCT03527537 Phase 4 Insulin;Glyburide;Metformin
14 Validating Ultrasound Biomarkers for Hepatic Sinusoidal Obstruction Syndrome in Pediatric Hematopoietic Cell Transplant Patients Not yet recruiting NCT03963999 Phase 4 Contrast Enhanced Ultrasound (CEUS)
15 Efficacy and Safety of Probiotics in Neonatal Hyperbilirubinemia Unknown status NCT03266913 Phase 3 Probiotic
16 The Effects of Dexamethasone Administration on Jaundice Following Liver Resection: a Randomized Controlled Trial Unknown status NCT02991339 Phase 2, Phase 3 Dexamethasone
17 Effect of Lipid Intake on Direct Hyperbilirubinemia in Late Preterm and Term Infants With Gastrointestinal Surgical Problems. Completed NCT01555957 Phase 3 intravenous lipid
18 A Multicenter Study to Evaluate the Efficacy and Safety of Tin Mesoporphyrin (Stannsoporfin) to Reduce the Need for Phototherapy in Term and Near Term Infants. Completed NCT02685137 Phase 3 stannsoporfin
19 A Randomized Trial of Aggressive or Conservative Phototherapy for Extremely Low Birth Weight Infants Completed NCT00114543 Phase 3
20 Prospective Study Comparing EUS Guided Biliary Drainage and ERCP With Stent Placement for Malignant Biliary Obstruction Completed NCT01421836 Phase 2, Phase 3
21 Improving Health Outcomes for New Mothers and Babies Completed NCT00360204 Phase 3
22 Routine Use of Transcutaneous Bilirubinometry Reduces the Need for Blood Sampling in Neonates With Jaundice Completed NCT00653874 Phase 3
23 Minimally Invasive Management of Rh Alloimmunization: Can Amniotic Fluid DeltaOD450 Measurements Be Replaced by Doppler Studies? Completed NCT00295516 Phase 3
24 Hepatocellular Carcinoma Postoperative Adjuvant Therapy Disease Committee of Taiwan Cooperative Oncology Group Completed NCT00149565 Phase 3 IFN-α2b
25 Medical Optimization of Management of Type 2 Diabetes Complicating Pregnancy Recruiting NCT02932475 Phase 3 Metformin;Placebo
26 Randomized Controlled Trial on the Use of EPO to Reduce Top-up Transfusions in Neonates With Red Blood Cell Alloimmunization Treated With Intrauterine Transfusions Recruiting NCT03104426 Phase 2, Phase 3 Darbepoetin Alfa
27 A Multicenter, Double-blind, Placebo-controlled, Randomized Trial of the Efficacy and Safety of Remaxol®, a Solution for Infusions Produced by STPF POLYSAN (Russia), in Patients With Malignant Mechanical Jaundice Recruiting NCT03416062 Phase 3 Remaxol®;Ringer's Solution
28 Randomization of Early Versus Standard Diabetes Screening Among Obese Pregnant Women Recruiting NCT03116009 Phase 3 Screening for diabetes with 1-hour GCT and HbA1
29 A European Multi-center, Randomised, Double-blind Trial of Pirfenidone in Bronchiolitis-obliterans-syndrome Grade 1-3 in Lung Transplant Recipients Recruiting NCT02262299 Phase 2, Phase 3 Pirfenidone;Placebo
30 Cycled Phototherapy: A Safer Effective Method to Control the Serum Bilirubin Of Extremely Premature Infants? Not yet recruiting NCT03927833 Phase 3
31 A Pilot Phase II Study of a Nucleoside Sparing Regimen of Dolutegravir + Atazanavir/r in HIV-1 Infected Patients With Detectable Viremia (DOLATAV Study) Unknown status NCT02542852 Phase 2 atazanavir 300 mg + ritonavir 100 mg + dolutegravir 50 mg
32 Phase II Study of Tin Mesoporphyrin vs Phototherapy for Hyperbilirubinemia in Premature Newborns Completed NCT00004382 Phase 2 tin mesoporphyrin
33 An Open-Label Study of the Safety and Clinical Pharmacology of Stanate® in Infants At-Risk for Exchange Transfusion Completed NCT00115544 Phase 2 Stanate
34 Phase II Randomized Study of Tin Mesoporphyrin for Neonatal Hyperbilirubinemia Completed NCT00004381 Phase 2 tin mesoporphyrin
35 A Phase 2 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
36 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
37 A Phase II Trial: Safety and Tolerance of Intravenous 4-Demethyl-4-cholesteryloxycarbonylpenclomedine (DM-CHOC-PEN) in Patients With Malignancies Involving the Central Nervous System Completed NCT02038218 Phase 2 4-Demethyl-4-cholestryloxycarbonylpenclomedine
38 Non-comparative Phase II Open Study Evaluating the Efficacy of a Reduced Dose Atazanavir / Ritonavir 200/100 mg + 2 NRTI in HIV-1-infected Patients With Virological Success With Atazanavir / Ritonavir 300/100 mg + 2 NRTI Completed NCT02473328 Phase 2 Atazanavir 200 mg/r
39 Chemoradiation With Capecitabine for Palliation of Pain From Bone Metastasis Completed NCT01784393 Phase 2
40 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
41 A Phase II Trial of Bolus Fluorouracil and Oxaliplatin (mFLOX) as First-line Regimen for Patients With Unresectable or Metastatic Pancreatic Cancer Not Eligible for Infusional Fluorouracil, Irinotecan and Oxaliplatin Recruiting NCT02896803 Phase 2 mFLOX
42 Phase Ib/II Study of Concurrent Durvalumab And Radiation Therapy (DUART) Followed by Adjuvant Durvalumab in Patients With Urothelial Cancer (T2-4 N0-2 M0) of the Bladder: Big Ten Cancer Research Consortium BTCRC-GU15-023 Recruiting NCT02891161 Phase 1, Phase 2 durvalumab
43 Durvalumab (MEDI4736) as Maintenance Treatment Following Chemoradiation for Locally Advanced Unresectable Esophageal Squamous Cell Carcinoma (DESC). Not yet recruiting NCT04054518 Phase 2 Durvalumab
44 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
45 A Pilot Study of Moderate Hyperbilirubinemia in Type 1 Diabetes Mellitus Completed NCT01421355 Phase 1 Atazanavir
46 Open-label, Multicentric Phase I-II Trial to Evaluate the Efficacy and Safety of the Combination of Sorafenib (BAY 43-9006), Gemcitabine and Concurrent Radiotherapy, in Locally Advanced Pancreatic Carcinoma Completed NCT00789763 Phase 1 Gemcitabine;Sorafenib
47 Safety of Transarterial Chemoembolization in Patients With Elevated Bilirubin Recruiting NCT03259581 Phase 1
48 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
49 Comparison Between Effect of Conventional, Intensive and Light Emitting Diodes (LED) Phototherapy on Oxidative Stress Among Neonates With Unconjugated Hyperbilirubinemia Unknown status NCT03074292
50 Hyperbilirubinemia After Major Cardiac or Thoracic Aorta Surgery: Predictors and Clinical Significance Unknown status NCT01617902

Search NIH Clinical Center for Bilirubin Metabolic Disorder

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Phenobarbital
Phenobarbital
Phenobarbital Sodium

Cochrane evidence based reviews: hyperbilirubinemia

Genetic Tests for Bilirubin Metabolic Disorder

Genetic tests related to Bilirubin Metabolic Disorder:

# Genetic test Affiliating Genes
1 Hyperbilirubinemia 29

Anatomical Context for Bilirubin Metabolic Disorder

MalaCards organs/tissues related to Bilirubin Metabolic Disorder:

41
Liver, Testes, Breast, Brain, Myeloid, Bone, Kidney

Publications for Bilirubin Metabolic Disorder

Articles related to Bilirubin Metabolic Disorder:

(show top 50) (show all 7258)
# Title Authors PMID Year
1
Hyperbilirubinemia in African American neonates: clinical issues and current challenges. 9 38
19932984 2010
2
Exploring the genetic architecture of neonatal hyperbilirubinemia. 9 38
20022574 2010
3
Glucose-6-phosphate dehydrogenase and red cell pyruvate kinase deficiency in neonatal jaundice cases in egypt. 9 38
20426517 2010
4
Posttransplantation calcineurin inhibitor-induced hemolytic uremic syndrome: single-center experience. 9 38
20430179 2010
5
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]. 9 38
20376801 2010
6
Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism. 9 38
20389299 2010
7
Effect of albumin administration prior to exchange transfusion in term neonates with hyperbilirubinemia--a randomized controlled trial. 9 38
19578230 2010
8
Developmental hyperbilirubinemia and CNS toxicity in mice humanized with the UDP glucuronosyltransferase 1 (UGT1) locus. 9 38
20194756 2010
9
Hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient male newborns in Al-Ahsa, Saudi Arabia. 9 38
20174734 2010
10
Clinical characteristics of G6PD deficiency in infants with marked hyperbilirubinemia. 9 38
20051781 2010
11
A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns. 9 38
20402064 2010
12
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. 9 38
19830808 2010
13
Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia. 9 38
20514852 2009
14
Prolonged unconjugated hyperbiliriubinemia in breast-fed male infants with a mutation of uridine diphosphate-glucuronosyl transferase. 9 38
19683255 2009
15
UGT1A1 polymorphism and hyperbilirubinemia in a patient who received sorafenib. 9 38
19672597 2009
16
Complex multifactorial nature of significant hyperbilirubinemia in neonates. 9 38
19858149 2009
17
Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes. 9 38
19572200 2009
18
Homozygous variant of UGT1A1 gene mutation and severe neonatal hyperbilirubinemia. 9 38
19674361 2009
19
Effective bilirubin reduction by single-pass albumin dialysis in liver failure. 9 38
19624591 2009
20
Genetic polymorphisms in Thai neonates with hyperbilirubinemia. 9 38
19397531 2009
21
Gilbert's syndrome and antiviral therapy of hepatitis C. 9 38
19841506 2009
22
Allo-SCT conditioning for myelodysplastic syndrome and acute myeloid leukemia with clofarabine, cytarabine and ATG. 9 38
19139740 2009
23
UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia. 9 38
19430380 2009
24
Identification of neonates at risk for hazardous hyperbilirubinemia: emerging clinical insights. 9 38
19501698 2009
25
Gilbert's syndrome and hyperbilirubinemia in protease inhibitor therapy--an extended haplotype of genetic variants increases risk in indinavir treatment. 9 38
19303655 2009
26
A hemolysis trigger in glucose-6-phosphate dehydrogenase enzyme deficiency. Vicia sativa (Vetch). 9 38
19198723 2009
27
Oxidative challenge and glucose-6-phosphate dehydrogenase activity of preterm and term neonatal red blood cells. 9 38
19258737 2009
28
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. 9 38
19881259 2009
29
Reyes's syndrome, encephalopathy, hyperammonemia and acetyl salicylic acid ingestion in a city hospital of Buenos Aires, Argentina. 9 38
19149521 2009
30
UGT1A1 promoter polymorphisms and the development of hyperbilirubinemia and gallbladder disease in children with sickle cell anemia. 9 38
18756540 2008
31
Variations in the UDP-glucuronosyltransferase 1A1 gene for the development of unconjugated hyperbilirubinemia in Taiwanese. 9 38
18781851 2008
32
Inhibitors of the heme oxygenase - carbon monoxide system: on the doorstep of the clinic? 9 38
18758507 2008
33
Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates. 9 38
19675737 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. 9 38
18553047 2008
35
Hemopexin prevents endothelial damage and liver congestion in a mouse model of heme overload. 9 38
18556779 2008
36
Adjuvant therapeutic plasma exchange in liver failure: assessments of clinical and laboratory parameters. 9 38
18344887 2008
37
Efficacy of clofibrate on severe neonatal jaundice associated with glucose-6-phosphate dehydrogenase deficiency (a randomized clinical trial). 9 38
18564698 2008
38
Clinical and cranial magnetic resonance imaging (MRI) findings of 21 patients with serious hyperbilirubinemia. 9 38
18182649 2008
39
Influence of gender on the ratio of serum aspartate aminotransferase (AST) to alanine aminotransferase (ALT) in patients with and without hyperbilirubinemia. 9 38
17717745 2008
40
Disruption of the ugt1 locus in mice resembles human Crigler-Najjar type I disease. 9 38
18180294 2008
41
Acute Q fever in southern Taiwan: atypical manifestations of hyperbilirubinemia and prolonged fever. 9 38
17949935 2008
42
(TA)n UDP-glucuronosyltransferase 1A1 promoter polymorphism in Nigerian neonates. 9 38
18043502 2008
43
Drug-induced hyperbilirubinemia and the clinical influencing factors. 9 38
18821100 2008
44
Severe hyperbilirubinemia in a glucose-6-phosphate dehydrogenase-deficient preterm neonate: could prematurity be the main responsible factor? 9 38
19023210 2008
45
Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects. 9 38
18324905 2008
46
Somatostatin and propranolol to treat small-for-size syndrome that occurred despite splenic artery ligation. 9 38
18194122 2007
47
Comparison of serology assays and polymerase chain reaction for the monitoring of active cytomegalovirus infection in renal transplant recipients. 9 38
18021976 2007
48
UGT1A1 promoter polymorphism increases risk of nilotinib-induced hyperbilirubinemia. 9 38
17611564 2007
49
Comments on seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia by D'Apolito et al. 9 38
17726772 2007
50
Antioxidant vitamins and hyperbilirubinemia in neonates. 9 38
19675711 2007

Variations for Bilirubin Metabolic Disorder

ClinVar genetic disease variations for Bilirubin Metabolic Disorder:

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 5:176831232-176831232 5:177404231-177404231
2 UGT1A1 NM_000463.2(UGT1A1): c.716_717AG[3] (p.Glu241fs) short repeat Pathogenic rs797046091 2:234669655-234669656 2:233761009-233761010
3 UGT1A1 NM_000463.2(UGT1A1): c.238_239insGTAC (p.Pro80fs) insertion Pathogenic rs797046090 2:234669171-234669172 2:233760525-233760526
4 UGT1A1 NM_000463.2(UGT1A1): c.1084+1G> T single nucleotide variant Pathogenic rs587784535 2:234676583-234676583 2:233767937-233767937
5 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 2:234681059-234681059 2:233772413-233772413
6 UGT1A ; UGT1A1 ; UGT1A10 ; UGT1A3 ; UGT1A4 ; UGT1A5 ; UGT1A6 ; UGT1A7 ; UGT1A8 ; UGT1A9 NM_000463.2(UGT1A1): c.1091C> T (p.Pro364Leu) single nucleotide variant Pathogenic/Likely pathogenic rs34946978 2:234676872-234676872 2:233768226-233768226
7 UGT1A1 NM_000463.2(UGT1A1): c.141C> T (p.Ile47=) single nucleotide variant Conflicting interpretations of pathogenicity rs34526305 2:234669074-234669074 2:233760428-233760428
8 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 2:234669607-234669607 2:233760961-233760961
9 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 2:234675826-234675826 2:233767180-233767180
10 UGT1A1 NM_000463.2(UGT1A1): c.748T> C (p.Ser250Pro) single nucleotide variant Uncertain significance rs57307513 2:234669681-234669681 2:233761035-233761035
11 UGT1A1 NM_000463.2(UGT1A1): c.1231G> T (p.Val411Leu) single nucleotide variant Uncertain significance rs36076514 2:234677012-234677012 2:233768366-233768366
12 UGT1A1 NM_000463.2(UGT1A1): c.1354G> T (p.Val452Leu) single nucleotide variant Uncertain significance rs587784536 2:234680957-234680957 2:233772311-233772311
13 UGT1A1 NM_000463.2(UGT1A1): c.1413G> A (p.Ala471=) single nucleotide variant Uncertain significance rs587784537 2:234681016-234681016 2:233772370-233772370
14 UGT1A1 NM_000463.2(UGT1A1): c.479T> A (p.Val160Glu) single nucleotide variant Uncertain significance rs587784540 2:234669412-234669412 2:233760766-233760766
15 UGT1A1 NM_000463.2(UGT1A1): c.476T> C (p.Ile159Thr) single nucleotide variant Uncertain significance rs587784539 2:234669409-234669409 2:233760763-233760763
16 UGT1A1 NM_000463.2(UGT1A1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs587784538 2:234669255-234669255 2:233760609-233760609
17 UGT1A1 NM_000463.2(UGT1A1): c.141C> A (p.Ile47=) single nucleotide variant Uncertain significance rs34526305 2:234669074-234669074 2:233760428-233760428

Expression for Bilirubin Metabolic Disorder

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

Pathways for Bilirubin Metabolic Disorder

Pathways related to Bilirubin Metabolic Disorder according to KEGG:

37
# 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 SLCO1B1 SLC35A2 SLC22A7 SLC17A5 HMOX1 ALB
2
Show member pathways
12.18 UGT1A8 UGT1A7 UGT1A6 UGT1A1 HMOX1
3 12.12 UGT1A8 UGT1A7 UGT1A6 UGT1A1 G6PD ABCC2
4
Show member pathways
11.76 UGT1A1 SLCO1B1 ABCC2
5
Show member pathways
11.6 UGT1A8 UGT1A6 UGT1A1 ABCC2
7 11.53 SLCO1B1 SLC22A7 ABCC2
8
Show member pathways
11.44 UGT1A8 UGT1A7 UGT1A6 UGT1A1
9
Show member pathways
11.36 UGT1A6 UGT1A1 NR1I3 ABCC2
10 11.33 UGT1A7 UGT1A6 UGT1A1
11 11.33 UGT1A7 UGT1A6 UGT1A1 HMOX1 GGT1 G6PD
12
Show member pathways
11.16 UGT1A8 UGT1A6 UGT1A1
13
Show member pathways
10.86 SLCO1B1 ABCC2
14 10.77 SLCO1B1 NR1I3 ABCC2
15 10.76 UGT1A6 UGT1A1 NR1I3 ABCC2
16 10.75 GPT G6PD

GO Terms for Bilirubin Metabolic Disorder

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.7 UGT1A8 UGT1A7 UGT1A6 UGT1A1 SLC35A2 HMOX1
2 extracellular space GO:0005615 9.56 HP HMOX1 GPT GGT1 F2 F12
3 intracellular membrane-bounded organelle GO:0043231 9.1 UGT1A8 UGT1A7 UGT1A6 UGT1A1 HMOX1 G6PD

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of catalytic activity GO:0043086 9.67 UGT1A8 UGT1A7 UGT1A1
2 hemostasis GO:0007599 9.61 F2 F12 ADAMTS13
3 fibrinolysis GO:0042730 9.58 F2 F12
4 acute-phase response GO:0006953 9.58 UGT1A1 HP F2
5 blood coagulation, intrinsic pathway GO:0007597 9.57 F2 F12
6 zymogen activation GO:0031638 9.56 GGT1 F12
7 positive regulation of blood coagulation GO:0030194 9.54 F2 F12
8 organic anion transport GO:0015711 9.52 SLCO1B1 SLC22A7
9 retinoic acid metabolic process GO:0042573 9.5 UGT1A8 UGT1A7 UGT1A1
10 heme catabolic process GO:0042167 9.48 UGT1A1 HMOX1
11 coumarin metabolic process GO:0009804 9.46 UGT1A8 UGT1A7
12 cellular glucuronidation GO:0052695 9.43 UGT1A7 UGT1A6 UGT1A1
13 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A8 UGT1A1
14 flavone metabolic process GO:0051552 9.33 UGT1A8 UGT1A7 UGT1A1
15 xenobiotic glucuronidation GO:0052697 9.26 UGT1A8 UGT1A7 UGT1A6 UGT1A1
16 regulation of blood coagulation GO:0030193 9.25 F2
17 thyroid hormone transport GO:0070327 9.21 ABCC2
18 flavonoid glucuronidation GO:0052696 8.92 UGT1A8 UGT1A7 UGT1A6 UGT1A1

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 9.88 UGT1A8 UGT1A7 UGT1A6 UGT1A1 HMOX1 G6PD
2 transferase activity, transferring glycosyl groups GO:0016757 9.67 UGT1A8 UGT1A7 UGT1A6 UGT1A1
3 transferase activity, transferring hexosyl groups GO:0016758 9.56 UGT1A8 UGT1A7 UGT1A6 UGT1A1
4 enzyme inhibitor activity GO:0004857 9.5 UGT1A8 UGT1A7 UGT1A1
5 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.46 SLCO1B1 SLC22A7
6 glucuronosyltransferase activity GO:0015020 9.46 UGT1A8 UGT1A7 UGT1A6 UGT1A1
7 organic anion transmembrane transporter activity GO:0008514 9.43 SLC22A7 ABCC2
8 retinoic acid binding GO:0001972 9.26 UGT1A8 UGT1A7 UGT1A6 UGT1A1
9 UDP-glycosyltransferase activity GO:0008194 8.92 UGT1A8 UGT1A7 UGT1A6 UGT1A1

Sources for Bilirubin Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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