MCID: BLR008
MIFTS: 45

Bilirubin Metabolic Disorder

Categories: Metabolic diseases

Aliases & Classifications for Bilirubin Metabolic Disorder

MalaCards integrated aliases for Bilirubin Metabolic Disorder:

Name: Bilirubin Metabolic Disorder 12 14
Hyperbilirubinemia 12 72 36 28 51 41 69
Hyperbilirubinemia, Hereditary 41 69
Hereditary Hyperbilirubinemia 12
Hyperbilirubinaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2741
NCIt 46 C84761
KEGG 36 H00208
ICD10 32 E80.6

Summaries for Bilirubin Metabolic Disorder

Disease Ontology : 12 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 hyperbilirubinemia, rotor type and dubin-johnson syndrome, and has symptoms including jaundice (not of newborn), muscle weakness and polydipsia. 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 Liver Extracts and Acetylcholine have been mentioned in the context of this disorder. Related phenotype is homeostasis/metabolism.

Wikipedia : 72 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 68)
# Related Disease Score Top Affiliating Genes
1 hyperbilirubinemia, rotor type 34.4 ABCC2 ALB SLCO1B1
2 dubin-johnson syndrome 31.8 ABCC1 ABCC2 SLCO1B1
3 gilbert syndrome 31.2 G6PD HP SLCO1B1 UGT1A1 UGT1A6 UGT1A7
4 crigler-najjar syndrome, type i 31.1 SLC35A2 UGT1A UGT1A1 UGT1A6
5 kernicterus 29.8 ALB G6PD PKM SLC35A2 UGT1A1 UGT1A6
6 hyperbilirubinemia, transient familial neonatal 12.3
7 hyperbilirubinemia, shunt, primary 12.2
8 congenital intrauterine infection-like syndrome 11.0
9 antipyrine metabolism 10.6 ALB F2
10 non-a-e hepatitis 10.6 ALB F2
11 fournier gangrene 10.5 ALB F2
12 heme oxygenase 1 deficiency 10.5 HMOX1 HP
13 hepatoportal sclerosis 10.4 F2 GPT
14 abdominal tuberculosis 10.4 ALB F2
15 koro 10.4 ALB G6PD
16 intracranial embolism 10.4 F12 F2
17 thrombotic thrombocytopenic purpura, congenital 10.3 ADAMTS13 HP
18 kwashiorkor 10.3 ALB F2 GPT
19 hepatic coma 10.3 ALB F2 GPT
20 hemorrhagic fever 10.3 ALB F2 GPT
21 analbuminemia 10.3 ALB F2 GPT
22 hepatitis e 10.3 ALB F2 GPT
23 acute liver failure 10.3 ALB F2 GPT
24 hepatitis a 10.3 ALB F2 GPT
25 pyruvate kinase deficiency of red cells 10.3 G6PD PKM
26 hepatic encephalopathy 10.3 ALB F2 GPT
27 parotitis 10.3 ALB G6PD
28 alpha-thalassemia 10.3 G6PD HP UGT1A1
29 portal hypertension 10.3 ALB F2 GPT
30 descending colon cancer 10.3 SLC35A2 UGT1A1 UGT1A6
31 glucosephosphate dehydrogenase deficiency 10.3 G6PD HP SLCO1B1 UGT1A1
32 wilson disease 10.3 ALB F2 GPT
33 immune system disease 10.3 ADAMTS13 ALB F2
34 choledocholithiasis 10.2 ALB F2 GPT UGT1A1
35 blackwater fever 10.2 G6PD HP
36 hepatitis d 10.2 F2 GPT SLC35A2
37 sickle cell anemia 10.2 F2 G6PD UGT1A1 UGT1A6
38 cholecystitis 10.2 ALB F2 GPT HP
39 cholelithiasis 10.1 ALB GPT UGT1A1 UGT1A6
40 pigmentation disease 10.1 PKM SLCO1B1 UGT1A1 UGT1A6
41 alcoholic hepatitis 10.1 ADAMTS13 ALB F2 GPT
42 brain stem glioma 10.1 UGT1A UGT1A1
43 crigler-najjar syndrome, type ii 10.1 UGT1A UGT1A1 UGT1A6
44 evans' syndrome 10.1 ADAMTS13 HP
45 neonatal jaundice 10.1 G6PD HMOX1 NR1I3 SLCO1B1 UGT1A1
46 hellp syndrome 10.0 ADAMTS13 F2 GPT HP
47 parametritis 10.0 F2 OXT
48 gastrointestinal system disease 10.0 ALB F2 GGT1
49 autoimmune hepatitis 10.0 F2 GGT1 GPT
50 irinotecan toxicity 10.0 SLCO1B1 UGT1A UGT1A1 UGT1A7

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:


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

MGI Mouse Phenotypes related to Bilirubin Metabolic Disorder:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ABCC1 ABCC2 ADAMTS13 ALB F12 F2

Drugs & Therapeutics for Bilirubin Metabolic Disorder

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 1, Phase 2
2
Acetylcholine Approved Not Applicable 51-84-3 187
3
Orlistat Approved, Investigational Not Applicable 96829-58-2 3034010
4
Iron Approved 7439-89-6 23925
5 abobotulinumtoxinA Not Applicable
6 Botulinum Toxins Not Applicable
7 Botulinum Toxins, Type A Not Applicable
8 Cholinergic Agents Not Applicable
9 Neuromuscular Agents Not Applicable
10 Neurotransmitter Agents Not Applicable
11 onabotulinumtoxinA Not Applicable
12 Peripheral Nervous System Agents Not Applicable
13 Anti-Obesity Agents Not Applicable
14
Bilirubin Not Applicable 635-65-4 5280352
15 Hematinics

Interventional clinical trials:

(show all 12)

# Name Status NCT ID Phase Drugs
1 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
2 Gene Transfer Clinical Study in Crigler-Najjar Syndrome Recruiting NCT03223194 Phase 1, Phase 2
3 Gene Therapy for Severe Crigler Najjar Syndrome Not yet recruiting NCT03466463 Phase 1, Phase 2
4 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707 Not Applicable
5 Orlistat Treatment of Crigler-Najjar Disease Completed NCT00461799 Not Applicable orlistat
6 Immunity Against AAV in Crigler Najjar Patient Completed NCT02302690
7 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
8 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Recruiting NCT02356978 Not Applicable
9 Biomarker for Patients With Gilbert Disease Recruiting NCT02712138
10 Clinical Assessment Study in Crigler-Najjar Syndrome Recruiting NCT03078881
11 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Active, not recruiting NCT02051049
12 HepaStem Long-Term Safety Registry Not yet recruiting NCT03343756

Search NIH Clinical Center for Bilirubin Metabolic Disorder

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: hyperbilirubinemia

Genetic Tests for Bilirubin Metabolic Disorder

Genetic tests related to Bilirubin Metabolic Disorder:

# Genetic test Affiliating Genes
1 Hyperbilirubinemia 28

Anatomical Context for Bilirubin Metabolic Disorder

Publications for Bilirubin Metabolic Disorder

Articles related to Bilirubin Metabolic Disorder:

(show top 50) (show all 316)
# Title Authors Year
1
Bilirubin Albumin Binding and Unbound Unconjugated Hyperbilirubinemia in Premature Infants. ( 29132818 )
2018
2
An Infant With Unusually High Unconjugated Hyperbilirubinemia Due to Coexistence of Hereditary Spherocytosis and Gilbert Syndrome. ( 29200157 )
2017
3
Utility of hepatobiliary scintigraphy in diagnosing or excluding biliary atresia in premature neonates and full-term infants with conjugated hyperbilirubinemia who received parenteral nutrition. ( 28818034 )
2017
4
Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing. ( 29032691 )
2017
5
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
6
The Neurological Sequelae of Neonatal Hyperbilirubinemia: Definitions, Diagnosis and Treatment of the Kernicterus Spectrum Disorders (KSDs). ( 28814249 )
2017
7
Bilirubin Uridine Diphosphate-glucuronosyltransferase Polymorphism as a Risk Factor for Prolonged Hyperbilirubinemia in Japanese Preterm Infants. ( 28888563 )
2017
8
Association between uridin diphosphate glucuronosylotransferase 1A1 (UGT1A1) gene polymorphism and neonatal hyperbilirubinemia. ( 28399191 )
2017
9
Linking organic anion transporting polypeptide 1B1 and 1B3 (OATP1B1 and OATP1B3) interaction profiles to hepatotoxicity - The hyperbilirubinemia use case. ( 28063966 )
2017
10
Persisting hyperbilirubinemia in patients with paroxysmal nocturnal hemoglobinuria (PNH) chronically treated with eculizumab: The role of hepatocanalicular transporter variants. ( 28692147 )
2017
11
Genetic Variations in Bilirubin Metabolism Genes and Their Association with Unconjugated Hyperbilirubinemia in Adults. ( 27943244 )
2017
12
Association between the Specific UGT1A1 Promoter Sequence Variant (c-3279T>G) and Unconjugated Neonatal Hyperbilirubinemia. ( 27318112 )
2016
13
Neonatal hyperbilirubinemia and the risk of febrile seizures and childhood epilepsy. ( 27259071 )
2016
14
Crimean-Congo hemorrhagic fever with hyperbilirubinemia and ascites: An unusual presentation. ( 26129885 )
2016
15
Cadmium and arsenic override NF-I_B developmental regulation of the intestinal UGT1A1 gene and control of hyperbilirubinemia. ( 27060662 )
2016
16
Contribution of UGT1A1 variations to chemotherapy-induced unconjugated hyperbilirubinemia in pediatric leukemia patients. ( 27057738 )
2016
17
Analysis of uridine diphosphate glucuronosyl transferase 1A1 gene mutations in neonates with unconjugated hyperbilirubinemia. ( 27323053 )
2016
18
Leptospirosis Presenting with Rapidly Progressing Acute Renal Failure and Conjugated Hyperbilirubinemia: A Case Report. ( 27506868 )
2016
19
Fiber enhanced Raman spectroscopic analysis as a novel method for diagnosis and monitoring of diseases related to hyperbilirubinemia and hyperbiliverdinemia. ( 27704083 )
2016
20
Membrane bile acid receptor TGR5 predicts good prognosis in ampullary adenocarcinoma patients with hyperbilirubinemia. ( 27510297 )
2016
21
Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia. ( 26727668 )
2016
22
How to treat a neonate with duodenal atresia and intrapancreatic choledochocele causing persistent hyperbilirubinemia: A case report. ( 26701845 )
2016
23
Therapeutic Efficacy and Safety of Paeoniae Radix Rubra Formulae in Relieving Hyperbilirubinemia Induced by Viral Hepatitis: A Meta-Analysis. ( 27047379 )
2016
24
Multiple Genetic Modifiers of Bilirubin Metabolism Involvement in Significant Neonatal Hyperbilirubinemia in Patients of Chinese Descent. ( 26146841 )
2015
25
Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia. ( 26716871 )
2015
26
Down-regulation of OATP1B proteins correlates with hyperbilirubinemia in advanced cholestasis. ( 26191226 )
2015
27
High resolution melting analysis of the NR1I3 genetic variants: Is there an association with neonatal hyperbilirubinemia? ( 26188155 )
2015
28
Patterns and genetic polymorphisms in unconjugated hyperbilirubinemia (gilbert syndrome). ( 25646240 )
2015
29
Impaired Hepatic Uptake by Organic Anion-Transporting Polypeptides Is Associated with Hyperbilirubinemia and Hypercholanemia in Atp11c Mutant Mice. ( 26399598 )
2015
30
Association of HMOX1 gene promoter polymorphisms with hyperbilirubinemia in the early neonatal period. ( 25625535 )
2015
31
Association of neonatal hyperbilirubinemia in breast-fed infants with UGT1A1 or SLCOs polymorphisms. ( 25391605 )
2015
32
Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis. ( 26467199 )
2015
33
UGT1A1 gene mutations and neonatal hyperbilirubinemia in Guangxi Heiyi Zhuang and Han populations. ( 26200705 )
2015
34
Predictive value of cord blood bilirubin for hyperbilirubinemia in neonates at risk for maternal-fetal blood group incompatibility and hemolytic disease of the newborn. ( 26518407 )
2015
35
RADIOACTIVE IODINE THERAPY WITHOUT RECENT ANTITHYROID DRUG PRETREATMENT FOR HYPERTHYROIDISM COMPLICATED BY SEVERE HYPERBILIRUBINEMIA DUE TO HEPATIC DYSFUNCTION: EXPERIENCE OF A CHINESE MEDICAL CENTER. ( 26492542 )
2015
36
Severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism. ( 24726540 )
2014
37
Minocycline improves recognition memory and attenuates microglial activation in Gunn rat: A possible hyperbilirubinemia-induced animal model of schizophrenia. ( 24389395 )
2014
38
Eccrine chromhidrosis secondary to hyperbilirubinemia. ( 25780969 )
2014
39
A CARD9 polymorphism is associated with decreased likelihood of persistent conjugated hyperbilirubinemia in intestinal failure. ( 24465786 )
2014
40
Association of UGT1A1 variants and hyperbilirubinemia in breast-fed full-term Chinese infants. ( 25102181 )
2014
41
In vitro OATP1B1 and OATP1B3 inhibition is associated with observations of benign clinical unconjugated hyperbilirubinemia. ( 23886114 )
2014
42
UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis. ( 25200497 )
2014
43
Do UGT1A1 and HMOX1 gene promoter polymorphisms increase the risk of hyperbilirubinemia and gallstones in patients with hereditary spherocytosis? ( 24947795 )
2014
44
Extreme neonatal hyperbilirubinemia and a specific genotype: a population-based case-control study. ( 25092941 )
2014
45
UGT1A1 gene variants and clinical risk factors modulate hyperbilirubinemia risk in newborns. ( 24232666 )
2014
46
Genomewide association study of atazanavir pharmacokinetics and hyperbilirubinemia in AIDS Clinical Trials Group protocol A5202. ( 24557078 )
2014
47
Influence of UGT1A1 6, 27, and 28 polymorphisms on nilotinib-induced hyperbilirubinemia in Japanese patients with chronic myeloid leukemia. ( 24898899 )
2014
48
[Mutations in UGT1A1 gene in neonates with hyperbilirubinemia of Guangxi Heiyi Zhuang nationality]. ( 24856997 )
2014
49
The umbilical cord alpha-fetoprotein levels for predicting hyperbilirubinemia in term neonates. ( 23763371 )
2014
50
Life-long correction of hyperbilirubinemia with a neonatal liver-specific AAV-mediated gene transfer in a lethal mouse model of Crigler-Najjar Syndrome. ( 25072305 )
2014

Variations for Bilirubin Metabolic Disorder

ClinVar genetic disease variations for Bilirubin Metabolic Disorder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
2 UGT1A1 NM_000463.2(UGT1A1): c.1084+1G> T single nucleotide variant Pathogenic rs587784535 GRCh38 Chromosome 2, 233767937: 233767937
3 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
4 UGT1A1 NM_000463.2(UGT1A1): c.238_239insGTAC (p.Pro80Argfs) insertion Pathogenic rs797046090 GRCh37 Chromosome 2, 234669171: 234669172
5 UGT1A1 NM_000463.2(UGT1A1): c.722_723delAG (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh38 Chromosome 2, 233761009: 233761010

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:

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 HMOX1 UGT1A1 UGT1A6 UGT1A7
2 12.18 ABCC1 ABCC2 G6PD PKM UGT1A1 UGT1A6
3
Show member pathways
11.67 ABCC2 SLCO1B1 UGT1A1
4 11.66 ABCC2 G6PD GGT1 HMOX1 UGT1A1 UGT1A6
5
Show member pathways
11.62 ABCC2 UGT1A1 UGT1A6
7
Show member pathways
11.48 UGT1A1 UGT1A6 UGT1A7
8
Show member pathways
11.44 NR1I3 UGT1A1 UGT1A7
9
Show member pathways
11.37 ABCC2 NR1I3 UGT1A1 UGT1A6
10 11.31 UGT1A1 UGT1A6 UGT1A7
11
Show member pathways
11.19 ABCC2 SLCO1B1 UGT1A1
12 11.06 ABCC2 NR1I3 UGT1A1 UGT1A6
13
Show member pathways
10.88 ABCC1 ABCC2 SLCO1B1
14 10.85 ABCC1 ABCC2
15
Show member pathways
10.84 ABCC1 ABCC2 SLCO1B1 UGT1A1 UGT1A6 UGT1A7
16 10.79 G6PD GPT
17 10.77 ABCC2 NR1I3 SLCO1B1
18 10.75 ABCC1 UGT1A1
19 10.68 ABCC1 ABCC2
20 10.51 ABCC1 ABCC2

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 extracellular exosome GO:0070062 9.65 ABCC1 ALB F12 F2 G6PD GGT1
2 extracellular space GO:0005615 9.28 ADAMTS13 ALB F12 F2 GGT1 GPT

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 hemostasis GO:0007599 9.58 ADAMTS13 F12 F2
2 blood coagulation, intrinsic pathway GO:0007597 9.55 F12 F2
3 retinoic acid metabolic process GO:0042573 9.54 UGT1A1 UGT1A7
4 leukotriene metabolic process GO:0006691 9.52 ABCC1 GGT1
5 positive regulation of blood coagulation GO:0030194 9.51 F12 F2
6 acute-phase response GO:0006953 9.5 F2 HP UGT1A1
7 ATP hydrolysis coupled anion transmembrane transport GO:0099133 9.49 ABCC1 ABCC2
8 zymogen activation GO:0031638 9.48 F12 GGT1
9 thyroid hormone transport GO:0070327 9.46 ABCC2 SLCO1B1
10 heme catabolic process GO:0042167 9.43 HMOX1 UGT1A1
11 response to steroid hormone GO:0048545 9.43 ABCC2 OXT UGT1A1
12 flavone metabolic process GO:0051552 9.37 UGT1A1 UGT1A7
13 cellular glucuronidation GO:0052695 9.33 UGT1A1 UGT1A6 UGT1A7
14 flavonoid glucuronidation GO:0052696 9.13 UGT1A1 UGT1A6 UGT1A7
15 xenobiotic glucuronidation GO:0052697 8.8 UGT1A1 UGT1A6 UGT1A7

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring hexosyl groups GO:0016758 9.33 UGT1A1 UGT1A6 UGT1A7
2 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.26 ABCC1 ABCC2
3 glucuronosyltransferase activity GO:0015020 9.13 UGT1A1 UGT1A6 UGT1A7
4 retinoic acid binding GO:0001972 8.8 UGT1A1 UGT1A6 UGT1A7

Sources for Bilirubin Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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