CN1
MCID: CRG003
MIFTS: 59

Crigler-Najjar Syndrome, Type I (CN1) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Crigler-Najjar Syndrome, Type I

Aliases & Descriptions for Crigler-Najjar Syndrome, Type I:

Name: Crigler-Najjar Syndrome, Type I 54 12 50 24 13 38
Crigler-Najjar Syndrome 38 12 24 25 56 52 42 14
Crigler Najjar Syndrome 12 25 29
Hereditary Unconjugated Hyperbilirubinemia 25 56
Crigler Najjar Syndrome, Type 1 50 69
Crigler-Najjar Syndrome Type I 66 29
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 56
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 56
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 25
Hereditary Unconjugated Hyperbilirubinemia Type 1 56
Bilirubin Udp Glucuronyl Transferase Deficiency 12
Bilirubin-Ugt Deficiency Type 1 56
Crigler-Najjar Syndrome Type 1 56
Crigler-Najjar Syndrome 1 66
Bilirubin-Ugt Deficiency 56
Ugt Deficiency Type 1 56
Ugt Deficiency 56
Cn-I 66
Cn1 66

Characteristics:

Orphanet epidemiological data:

56
crigler-najjar syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;
crigler-najjar syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
crigler-najjar syndrome, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 218800
Disease Ontology 12 DOID:3803
ICD10 33 E80.5
MeSH 42 D003414
NCIt 47 C84656
ICD10 via Orphanet 34 E80.5
MESH via Orphanet 43 D003414 C536212
UMLS via Orphanet 70 C0010324 C2931131
MedGen 40 C0010324
UMLS 69 C0010324

Summaries for Crigler-Najjar Syndrome, Type I

NIH Rare Diseases : 50 crigler najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. this condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. crigler najjar syndrome, type 1 is caused by mutations in the ugt1a1 gene. the condition is inherited in an autosomal recessive manner. treatment relies on regular phototherapy throughout life. blood transfusions and calcium compounds have also been used. liver transplantation may be considered in some individuals.   last updated: 2/8/2011

MalaCards based summary : Crigler-Najjar Syndrome, Type I, also known as crigler-najjar syndrome, is related to crigler-najjar syndrome, type ii and gilbert syndrome, and has symptoms including seizures, vertigo and tremor. An important gene associated with Crigler-Najjar Syndrome, Type I is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Liver Extracts and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and brain.

Disease Ontology : 12 A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).

Genetics Home Reference : 25 Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).

UniProtKB/Swiss-Prot : 66 Crigler-Najjar syndrome 1: Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive.

Wikipedia : 71 Crigler–Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a... more...

Description from OMIM: 218800

Related Diseases for Crigler-Najjar Syndrome, Type I

Graphical network of the top 20 diseases related to Crigler-Najjar Syndrome, Type I:



Diseases related to Crigler-Najjar Syndrome, Type I

Symptoms & Phenotypes for Crigler-Najjar Syndrome, Type I

Symptoms by clinical synopsis from OMIM:

218800

Clinical features from OMIM:

218800

Human phenotypes related to Crigler-Najjar Syndrome, Type I:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%),Occasional (29-5%) HP:0001250
2 vertigo 56 32 Occasional (29-5%) HP:0002321
3 tremor 56 32 Occasional (29-5%) HP:0001337
4 lethargy 56 32 Occasional (29-5%) HP:0001254
5 ophthalmoparesis 56 32 Occasional (29-5%) HP:0000597
6 intellectual disability 56 32 Occasional (29-5%) HP:0001249
7 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
8 encephalitis 56 32 Occasional (29-5%) HP:0002383
9 hearing impairment 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000365
10 delayed speech and language development 56 32 Occasional (29-5%) HP:0000750
11 jaundice 56 32 Very frequent (99-80%) HP:0000952
12 memory impairment 56 32 Occasional (29-5%),Occasional (29-5%) HP:0002354
13 biliary tract abnormality 56 32 Very frequent (99-80%) HP:0001080
14 unconjugated hyperbilirubinemia 56 32 Very frequent (99-80%) HP:0008282
15 prolonged neonatal jaundice 56 32 Very frequent (99-80%) HP:0006579
16 oculomotor nerve palsy 56 32 Occasional (29-5%) HP:0012246
17 neonatal hyperbilirubinemia 56 32 Very frequent (99-80%) HP:0003265
18 kernicterus 56 32 Very frequent (99-80%) HP:0001343
19 infantile muscular hypotonia 56 32 Very frequent (99-80%) HP:0008947
20 cognitive impairment 56 Occasional (29-5%)
21 abnormality of the liver 56 Very frequent (99-80%),Very frequent (99-80%)
22 encephalopathy 32 HP:0001298

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type I

Drugs for Crigler-Najjar Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 1, Phase 2
2 Hematinics Phase 1, Phase 2
3
Ornithine Nutraceutical Phase 1 3184-13-2 6262 389
4
Acetylcholine Approved 51-84-3 187
5
Orlistat Approved, Investigational 96829-58-2 3034010
6
Iron Approved 7439-89-6 23925
7 Cholinergic Agents
8 Neuromuscular Agents
9 Neurotransmitter Agents
10 Peripheral Nervous System Agents
11 abobotulinumtoxinA
12 incobotulinumtoxinA
13 onabotulinumtoxinA
14 Botulinum Toxins
15 Botulinum Toxins, Type A
16
Bilirubin 635-65-4 5280352
17 Anti-Obesity Agents

Interventional clinical trials:


id Name Status NCT ID Phase
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 Hepatocyte Transplantation in Liver Failure Withdrawn NCT00805610 Phase 1, Phase 2
3 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1
4 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978
5 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707
6 Orlistat Treatment of Crigler-Najjar Disease Completed NCT00461799
7 Clinical Assessment Study in Crigler-Najjar Syndrome Recruiting NCT03078881
8 Immunity Against AAV in Crigler Najjar Patient Recruiting NCT02302690
9 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427
10 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Active, not recruiting NCT02051049

Search NIH Clinical Center for Crigler-Najjar Syndrome, Type I

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Crigler-Najjar Syndrome, Type I cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: crigler-najjar syndrome

Genetic Tests for Crigler-Najjar Syndrome, Type I

Genetic tests related to Crigler-Najjar Syndrome, Type I:

id Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome 29 24 UGT1A1
2 Crigler Najjar Syndrome, Type 1 29
3 Crigler-Najjar Syndrome, Type I 24

Anatomical Context for Crigler-Najjar Syndrome, Type I

MalaCards organs/tissues related to Crigler-Najjar Syndrome, Type I:

39
Liver, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crigler-Najjar Syndrome, Type I:
id Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Crigler-Najjar Syndrome, Type I

Articles related to Crigler-Najjar Syndrome, Type I:

(show all 42)
id Title Authors Year
1
A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I. ( 25729974 )
2015
2
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. ( 26697581 )
2015
3
Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene. ( 24793765 )
2014
4
Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature. ( 24217087 )
2013
5
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. ( 24341141 )
2013
6
Liver transplantation in Crigler-Najjar syndrome type I disease. ( 23060403 )
2012
7
Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation. ( 22414515 )
2012
8
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. ( 22094718 )
2012
9
Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. ( 19217809 )
2009
10
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I. ( 18376249 )
2008
11
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. ( 18567072 )
2008
12
Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia. ( 18281749 )
2007
13
[A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]. ( 16026101 )
2005
14
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. ( 14616765 )
2003
15
Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I. ( 14722376 )
2003
16
Removal of protein-bound and unbound unconjugated bilirubin by perfusion of plasma through an anion-exchange resin in a case of Crigler-Najjar syndrome type I. ( 14503990 )
2003
17
Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene. ( 11968090 )
2002
18
Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP). ( 12378576 )
2002
19
Management of Crigler-Najjar Syndrome type I. ( 11426237 )
2001
20
Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide. ( 10468611 )
1999
21
Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I. ( 10203091 )
1999
22
Neurologic perspectives of Crigler-Najjar syndrome type I. ( 9660509 )
1998
23
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. ( 9580649 )
1998
24
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. ( 9039987 )
1997
25
A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I. ( 9413009 )
1997
26
Glucuronidation of diflunisal, (-)-morphine, 4-nitrophenol, and propofol in liver microsomes of two patients with Crigler-Najjar syndrome type I. ( 8743402 )
1996
27
Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I. ( 8938045 )
1996
28
Complete correction of hyperbilirubinemia in the Gunn rat model of Crigler-Najjar syndrome type I following transient in vivo adenovirus-mediated expression of human bilirubin UDP-glucuronosyltransferase. ( 9156798 )
1996
29
Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. ( 8527799 )
1995
30
Retrovirus-mediated expression of HUG Br1 in Crigler-Najjar syndrome type I human fibroblasts and correction of the genetic defect in Gunn rat hepatocytes. ( 7614251 )
1995
31
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. ( 7989045 )
1994
32
A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. ( 7936809 )
1994
33
Crigler-Najjar syndrome type I: management with phototherapy crib mattress. ( 8259886 )
1993
34
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. ( 8102509 )
1993
35
[Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I]. ( 8096554 )
1993
36
Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I. ( 1568736 )
1992
37
Mechanisms of inherited deficiencies of multiple UDP- glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. ( 1634050 )
1992
38
Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. ( 2108190 )
1990
39
Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I. ( 2777735 )
1989
40
Crigler-Najjar syndrome type I: treatment by home phototherapy followed by orthotopic hepatic transplantation. ( 3546653 )
1987
41
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. ( 3306242 )
1987
42
Clinical conference. Crigler-Najjar syndrome (type I) in an adult male. ( 422012 )
1979

Variations for Crigler-Najjar Syndrome, Type I

UniProtKB/Swiss-Prot genetic disease variations for Crigler-Najjar Syndrome, Type I:

66 (show all 22)
id Symbol AA change Variation ID SNP ID
1 UGT1A1 p.Cys177Arg VAR_007697 rs72551342
2 UGT1A1 p.Gly276Arg VAR_007699 rs72551345
3 UGT1A1 p.Ala292Val VAR_007700
4 UGT1A1 p.Gly308Glu VAR_007701 rs62625011
5 UGT1A1 p.Gln357Arg VAR_007703 rs72551351
6 UGT1A1 p.Ala368Thr VAR_007704 rs72551352
7 UGT1A1 p.Ser375Phe VAR_007705 rs72551353
8 UGT1A1 p.Ser381Arg VAR_007706 rs72551354
9 UGT1A1 p.Ala401Pro VAR_007707 rs72551355
10 UGT1A1 p.Lys428Glu VAR_007708 rs72551356
11 UGT1A1 p.His39Asp VAR_026135 rs72551339
12 UGT1A1 p.Glu291Val VAR_026138
13 UGT1A1 p.Arg336Leu VAR_026140
14 UGT1A1 p.Arg336Gln VAR_026141 rs750453538
15 UGT1A1 p.His376Arg VAR_026144
16 UGT1A1 p.Gly377Val VAR_026145
17 UGT1A1 p.Pro387Ser VAR_026146
18 UGT1A1 p.Gly395Val VAR_026147 rs367897068
19 UGT1A1 p.Trp461Arg VAR_026149
20 UGT1A1 p.Lys402Thr VAR_064960
21 UGT1A1 p.Asp36Asn VAR_071402
22 UGT1A4 p.Ser376Phe VAR_007711 rs72551353

ClinVar genetic disease variations for Crigler-Najjar Syndrome, Type I:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) indel Pathogenic rs587776761 GRCh37 Chromosome 2, 234675692: 234675705
2 UGT1A1 NM_000463.2(UGT1A1): c.1124C> T (p.Ser375Phe) single nucleotide variant Pathogenic rs72551353 GRCh37 Chromosome 2, 234676905: 234676905
3 UGT1A1 NM_000463.2(UGT1A1): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs111033539 GRCh37 Chromosome 2, 234675806: 234675806
4 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh37 Chromosome 2, 234676519: 234676519
5 UGT1A1 NM_000463.2(UGT1A1): c.513_515delCTT (p.Phe171del) deletion Pathogenic rs587776762 GRCh37 Chromosome 2, 234669446: 234669448
6 UGT1A1 NM_000463.2(UGT1A1): c.923G> A (p.Gly308Glu) single nucleotide variant Pathogenic rs62625011 GRCh37 Chromosome 2, 234675738: 234675738
7 UGT1A1 NM_000463.2(UGT1A1): c.840C> A (p.Cys280Ter) single nucleotide variant Pathogenic rs281865418 GRCh37 Chromosome 2, 234669773: 234669773
8 UGT1A1 NM_000463.2(UGT1A1): c.474_475insT (p.Ile159Tyrfs) insertion Pathogenic rs587776763 GRCh37 Chromosome 2, 234669407: 234669408
9 UGT1A1 NM_000463.2(UGT1A1): c.864+1G> C single nucleotide variant Pathogenic rs587776764 GRCh37 Chromosome 2, 234669798: 234669798
10 UGT1A1 NM_000463.2(UGT1A1): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs587776765 GRCh37 Chromosome 2, 234669078: 234669078
11 UGT1A1 NM_000463.2(UGT1A1): c.1085-2A> G single nucleotide variant Pathogenic rs587776766 GRCh37 Chromosome 2, 234676864: 234676864
12 UGT1A1 NM_000463.2(UGT1A1): c.1070A> G (p.Gln357Arg) single nucleotide variant Pathogenic rs72551351 GRCh37 Chromosome 2, 234676568: 234676568
13 UGT1A1 NM_000463.2(UGT1A1): c.353dupA (p.Asp119Glyfs) duplication Likely pathogenic rs886039771 GRCh38 Chromosome 2, 233760640: 233760640
14 UGT1A1 NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs72551350 GRCh37 Chromosome 2, 234676567: 234676567

Expression for Crigler-Najjar Syndrome, Type I

Search GEO for disease gene expression data for Crigler-Najjar Syndrome, Type I.

Pathways for Crigler-Najjar Syndrome, Type I

Pathways related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CNDP2 NT5C1A NT5C2 OTC UGT1A1 UGT1A4
2
Show member pathways
12.95 CNDP2 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3
Show member pathways
12.41 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 12.28 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5
Show member pathways
12.23 UGT1A1 UGT1A4 UGT1A6 UGT1A9
6 11.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7
Show member pathways
11.6 UGT1A1 UGT1A4 UGT1A6 UGT1A9
8
Show member pathways
11.5 UGT1A1 UGT1A9
9
Show member pathways
11.48 UGT1A1 UGT1A4 UGT1A6 UGT1A9
10
Show member pathways
11.44 UGT1A1 UGT1A4 UGT1A9
11
Show member pathways
11.37 UGT1A1 UGT1A4 UGT1A6 UGT1A9
12
Show member pathways
11.3 UGT1A1 UGT1A4 UGT1A6 UGT1A9
13 11.14 UGT1A1 UGT1A4 UGT1A6 UGT1A9
14 10.93 UGT1A4 UGT1A6 UGT1A9
15
Show member pathways
10.79 UGT1A1 UGT1A4 UGT1A6 UGT1A9
16
Show member pathways
10.74 UGT1A4 UGT1A9
17 10.43 UGT1A1 UGT1A4 UGT1A6 UGT1A9

GO Terms for Crigler-Najjar Syndrome, Type I

Cellular components related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 intracellular membrane-bounded organelle GO:0043231 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 endoplasmic reticulum GO:0005783 9.02 SLC35A2 UGT1A1 UGT1A4 UGT1A6 UGT1A9

Biological processes related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 CNDP2 NT5C2 UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 xenobiotic metabolic process GO:0006805 9.54 UGT1A6 UGT1A9
3 liver development GO:0001889 9.52 OTC UGT1A1
4 nucleotide metabolic process GO:0009117 9.51 NT5C1A NT5C2
5 drug metabolic process GO:0017144 9.49 NT5C2 UGT1A1
6 retinoic acid metabolic process GO:0042573 9.48 UGT1A1 UGT1A9
7 purine nucleotide catabolic process GO:0006195 9.46 NT5C1A NT5C2
8 heme catabolic process GO:0042167 9.43 UGT1A1 UGT1A4
9 adenosine metabolic process GO:0046085 9.4 NT5C1A NT5C2
10 flavone metabolic process GO:0051552 9.37 UGT1A1 UGT1A9
11 flavonoid glucuronidation GO:0052696 9.32 UGT1A1 UGT1A9
12 bilirubin conjugation GO:0006789 9.26 UGT1A1 UGT1A4
13 cellular glucuronidation GO:0052695 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
14 xenobiotic glucuronidation GO:0052697 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

Molecular functions related to Crigler-Najjar Syndrome, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.83 OTC UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 protein homodimerization activity GO:0042803 9.71 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 protein heterodimerization activity GO:0046982 9.67 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.56 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
6 5-nucleotidase activity GO:0008253 9.32 NT5C1A NT5C2
7 glucuronosyltransferase activity GO:0015020 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
8 retinoic acid binding GO:0001972 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

Sources for Crigler-Najjar Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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