Aliases & Classifications for Bilirubin Metabolic Disorder

MalaCards integrated aliases for Bilirubin Metabolic Disorder:

Name: Bilirubin Metabolic Disorder 12 15
Hyperbilirubinemia 12 76 37 29 55 6 44 73
Hyperbilirubinemia, Hereditary 44 73
Hereditary Hyperbilirubinemia 12
Hyperbilirubinaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2741
NCIt 50 C84761
KEGG 37 H00208
ICD10 33 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 gilbert syndrome, and has symptoms including icterus, polydipsia and muscle weakness. 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. Affiliated tissues include liver, and related phenotype is homeostasis/metabolism.

Wikipedia : 76 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 76)
# Related Disease Score Top Affiliating Genes
1 hyperbilirubinemia, rotor type 34.8 ABCC2 ALB SLCO1B1
2 gilbert syndrome 31.6 G6PD SLCO1B1 UGT1A1 UGT1A6 UGT1A7
3 crigler-najjar syndrome, type i 31.0 SLC35A2 UGT1A UGT1A1 UGT1A6
4 kernicterus 30.2 ALB G6PD PKM UGT1A1 UGT1A6
5 hyperbilirubinemia, transient familial neonatal 12.3
6 hyperbilirubinemia, shunt, primary 12.2
7 congenital intrauterine infection-like syndrome 11.0
8 dubin-johnson syndrome 10.9
9 antipyrine metabolism 10.9 ALB F2
10 non-a-e hepatitis 10.9 ALB F2
11 fournier gangrene 10.8 ALB F2
12 heme oxygenase 1 deficiency 10.7 HMOX1 HP
13 hepatoportal sclerosis 10.7 F2 GPT
14 abdominal tuberculosis 10.7 ALB F2
15 intracranial embolism 10.6 F12 F2
16 bilirubin, serum level of, quantitative trait locus 1 10.6 UGT1A1 UGT1A6 UGT1A7
17 thrombotic thrombocytopenic purpura, congenital 10.6 ADAMTS13 HP
18 sickle cell anemia 10.5 F2 UGT1A1 UGT1A6
19 hepatic coma 10.5 ALB F2 GPT
20 hemorrhagic fever 10.5 ALB F2 GPT
21 hepatitis e 10.5 ALB F2 GPT
22 hepatitis a 10.5 ALB F2 GPT
23 ischemic colitis 10.5 F2 HMOX1
24 paraquat poisoning 10.5 GPT SLC17A5
25 alpha-thalassemia 10.4 G6PD HP UGT1A1
26 descending colon cancer 10.4 SLC35A2 UGT1A1 UGT1A6
27 portal hypertension 10.4 ALB F2 GPT
28 wilson disease 10.4 ALB F2 GPT
29 glucosephosphate dehydrogenase deficiency 10.4 G6PD HP SLCO1B1 UGT1A1
30 immune system disease 10.4 ADAMTS13 ALB F2
31 blackwater fever 10.4 G6PD HP
32 pyruvate kinase deficiency of red cells 10.4 G6PD PKM
33 pyridoxine deficiency 10.4 GPT SLC17A5
34 compartment syndrome 10.4 ALB F2 SLC17A5
35 alcoholic liver cirrhosis 10.3 ALB F2 SLC17A5
36 hepatitis d 10.3 F2 GPT SLC35A2
37 cholecystitis 10.3 ALB F2 GPT HP
38 cholelithiasis 10.2 ALB GPT UGT1A1 UGT1A6
39 nonalcoholic steatohepatitis 10.2 F2 GPT SLC17A5
40 fascioliasis 10.2 ALB GPT SLC17A5
41 pigmentation disease 10.2 PKM SLCO1B1 UGT1A1 UGT1A6
42 extrahepatic cholestasis 10.2 ABCC2 GGT1 GPT
43 evans' syndrome 10.1 ADAMTS13 HP
44 neonatal jaundice 10.1 G6PD HMOX1 NR1I3 SLCO1B1 UGT1A1
45 vascular disease 10.1 ALB F2 HMOX1 HP
46 gastrointestinal system disease 10.1 ALB F2 GGT1
47 parametritis 10.1 F2 OXT
48 irinotecan toxicity 10.0 SLCO1B1 UGT1A UGT1A1 UGT1A7
49 kwashiorkor 10.0 ALB F2 GPT SLC17A5
50 autoimmune hepatitis 10.0 F2 GGT1 GPT

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:


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

MGI Mouse Phenotypes related to Bilirubin Metabolic Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ABCC2 ADAMTS13 ALB F12 F2 G6PD

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 Therapy for Severe Crigler Najjar Syndrome Recruiting NCT03466463 Phase 1, Phase 2
3 Gene Transfer Clinical Study in Crigler-Najjar Syndrome Recruiting NCT03223194 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 73 / NDF-RT 51 :


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

Publications for Bilirubin Metabolic Disorder

Articles related to Bilirubin Metabolic Disorder:

# Title Authors Year
1
Hereditary hyperbilirubinemias. ( 24839786 )
2014
2
[Diagnostic porphyrinopathies in hereditary hyperbilirubinemia]. ( 7483689 )
1993
3
Erythrocyte membrane transport of glutathione conjugates and oxidized glutathione in the Dubin-Johnson syndrome and in rats with hereditary hyperbilirubinemia. ( 1551648 )
1992
4
Cerebellar hypoplasia in the Gunn rat with hereditary hyperbilirubinemia: immunohistochemical and neurochemical studies. ( 6255097 )
1980

Variations for Bilirubin Metabolic Disorder

ClinVar genetic disease variations for Bilirubin Metabolic Disorder:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh38 Chromosome 5, 177404231: 177404231
3 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
4 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh38 Chromosome 2, 233772413: 233772413
5 UGT1A1 NM_000463.2(UGT1A1): c.141C> A (p.Ile47=) single nucleotide variant Uncertain significance rs34526305 GRCh37 Chromosome 2, 234669074: 234669074
6 UGT1A1 NM_000463.2(UGT1A1): c.141C> A (p.Ile47=) single nucleotide variant Uncertain significance rs34526305 GRCh38 Chromosome 2, 233760428: 233760428
7 UGT1A1 NM_000463.2(UGT1A1): c.141C> T (p.Ile47=) single nucleotide variant Conflicting interpretations of pathogenicity rs34526305 GRCh37 Chromosome 2, 234669074: 234669074
8 UGT1A1 NM_000463.2(UGT1A1): c.141C> T (p.Ile47=) single nucleotide variant Conflicting interpretations of pathogenicity rs34526305 GRCh38 Chromosome 2, 233760428: 233760428
9 UGT1A1 NM_000463.2(UGT1A1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs587784538 GRCh37 Chromosome 2, 234669255: 234669255
10 UGT1A1 NM_000463.2(UGT1A1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs587784538 GRCh38 Chromosome 2, 233760609: 233760609
11 UGT1A1 NM_000463.2(UGT1A1): c.476T> C (p.Ile159Thr) single nucleotide variant Uncertain significance rs587784539 GRCh37 Chromosome 2, 234669409: 234669409
12 UGT1A1 NM_000463.2(UGT1A1): c.476T> C (p.Ile159Thr) single nucleotide variant Uncertain significance rs587784539 GRCh38 Chromosome 2, 233760763: 233760763
13 UGT1A1 NM_000463.2(UGT1A1): c.479T> A (p.Val160Glu) single nucleotide variant Uncertain significance rs587784540 GRCh37 Chromosome 2, 234669412: 234669412
14 UGT1A1 NM_000463.2(UGT1A1): c.479T> A (p.Val160Glu) single nucleotide variant Uncertain significance rs587784540 GRCh38 Chromosome 2, 233760766: 233760766
15 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
16 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
17 UGT1A1 NM_000463.2(UGT1A1): c.748T> C (p.Ser250Pro) single nucleotide variant Uncertain significance rs57307513 GRCh37 Chromosome 2, 234669681: 234669681
18 UGT1A1 NM_000463.2(UGT1A1): c.748T> C (p.Ser250Pro) single nucleotide variant Uncertain significance rs57307513 GRCh38 Chromosome 2, 233761035: 233761035
19 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
20 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
21 UGT1A1 NM_000463.2(UGT1A1): c.1084+1G> T single nucleotide variant Pathogenic rs587784535 GRCh37 Chromosome 2, 234676583: 234676583
22 UGT1A1 NM_000463.2(UGT1A1): c.1084+1G> T single nucleotide variant Pathogenic rs587784535 GRCh38 Chromosome 2, 233767937: 233767937
23 UGT1A1 NM_000463.2(UGT1A1): c.1231G> T (p.Val411Leu) single nucleotide variant Uncertain significance rs36076514 GRCh37 Chromosome 2, 234677012: 234677012
24 UGT1A1 NM_000463.2(UGT1A1): c.1231G> T (p.Val411Leu) single nucleotide variant Uncertain significance rs36076514 GRCh38 Chromosome 2, 233768366: 233768366
25 UGT1A1 NM_000463.2(UGT1A1): c.1354G> T (p.Val452Leu) single nucleotide variant Uncertain significance rs587784536 GRCh37 Chromosome 2, 234680957: 234680957
26 UGT1A1 NM_000463.2(UGT1A1): c.1354G> T (p.Val452Leu) single nucleotide variant Uncertain significance rs587784536 GRCh38 Chromosome 2, 233772311: 233772311
27 UGT1A1 NM_000463.2(UGT1A1): c.1413G> A (p.Ala471=) single nucleotide variant Uncertain significance rs587784537 GRCh37 Chromosome 2, 234681016: 234681016
28 UGT1A1 NM_000463.2(UGT1A1): c.1413G> A (p.Ala471=) single nucleotide variant Uncertain significance rs587784537 GRCh38 Chromosome 2, 233772370: 233772370
29 UGT1A1 NM_000463.2(UGT1A1): c.238_239insGTAC (p.Pro80Argfs) insertion Pathogenic rs797046090 GRCh38 Chromosome 2, 233760525: 233760526
30 UGT1A1 NM_000463.2(UGT1A1): c.238_239insGTAC (p.Pro80Argfs) insertion Pathogenic rs797046090 GRCh37 Chromosome 2, 234669171: 234669172
31 UGT1A1 NM_000463.2(UGT1A1): c.722_723delAG (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh38 Chromosome 2, 233761009: 233761010
32 UGT1A1 NM_000463.2(UGT1A1): c.722_723delAG (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh37 Chromosome 2, 234669655: 234669656
33 UGT1A1 NM_000463.2(UGT1A1): c.1091C> T (p.Pro364Leu) single nucleotide variant Likely pathogenic rs34946978 GRCh38 Chromosome 2, 233768226: 233768226
34 UGT1A1 NM_000463.2(UGT1A1): c.1091C> T (p.Pro364Leu) single nucleotide variant Likely pathogenic rs34946978 GRCh37 Chromosome 2, 234676872: 234676872

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 12.29 ABCC2 G6PD PKM UGT1A1 UGT1A6 UGT1A7
2
Show member pathways
12.15 HMOX1 UGT1A1 UGT1A6 UGT1A7
3
Show member pathways
11.65 ABCC2 SLCO1B1 UGT1A1
4
Show member pathways
11.6 ABCC2 UGT1A1 UGT1A6
6
Show member pathways
11.47 UGT1A1 UGT1A6 UGT1A7
7
Show member pathways
11.42 NR1I3 UGT1A1 UGT1A7
8 11.33 ABCC2 G6PD GGT1 HMOX1 UGT1A1 UGT1A6
9
Show member pathways
11.31 ABCC2 NR1I3 UGT1A1 UGT1A6
10 11.29 UGT1A1 UGT1A6 UGT1A7
11
Show member pathways
11.16 ABCC2 SLCO1B1 UGT1A1
12
Show member pathways
11.09 ABCC2 SLCO1B1 UGT1A1 UGT1A6 UGT1A7
13 10.96 ABCC2 NR1I3 UGT1A1 UGT1A6
14
Show member pathways
10.86 ABCC2 SLCO1B1
15 10.77 ABCC2 NR1I3 SLCO1B1
16 10.75 G6PD GPT

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 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 response to organic substance GO:0010033 9.7 HP PKM UGT1A1
2 hemostasis GO:0007599 9.58 ADAMTS13 F12 F2
3 blood coagulation, intrinsic pathway GO:0007597 9.55 F12 F2
4 retinoic acid metabolic process GO:0042573 9.54 UGT1A1 UGT1A7
5 positive regulation of blood coagulation GO:0030194 9.51 F12 F2
6 acute-phase response GO:0006953 9.5 F2 HP UGT1A1
7 zymogen activation GO:0031638 9.49 F12 GGT1
8 regulation of blood coagulation GO:0030193 9.48 F12 F2
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 xenobiotic glucuronidation GO:0052697 9.13 UGT1A1 UGT1A6 UGT1A7
15 flavonoid glucuronidation GO:0052696 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 9.43 UGT1A1 UGT1A6 UGT1A7
2 glucuronosyltransferase activity GO:0015020 9.33 UGT1A1 UGT1A6 UGT1A7
3 carbohydrate:proton symporter activity GO:0005351 9.32 SLC17A5 SLC35A2
4 retinoic acid binding GO:0001972 9.13 UGT1A1 UGT1A6 UGT1A7
5 UDP-glycosyltransferase activity GO:0008194 8.8 UGT1A1 UGT1A6 UGT1A7

Sources for Bilirubin Metabolic Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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