MCID: CRG001
MIFTS: 62

Crigler-Najjar Syndrome malady

Metabolic, Liver, Genetic categories

Summaries for Crigler-Najjar Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Crigler-Najjar Syndrome, also known as crigler-najjar syndrome, type i, is related to crigler najjar syndrome, type 2 and gilbert syndrome, and has symptoms including autosomal recessive inheritance, motor deficit/trouble and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Crigler-Najjar Syndrome is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1), and among its related pathways are Ifosfamide Pathway, Pharmacokinetics and Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics. The compounds n-acetylbenzidine and acetaminophen glucuronide have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and fetal liver.

Disease Ontology:8 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:21 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).

Wikipedia:64 Crigler–Najjar syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical... more...

Description from OMIM:47 218800

Aliases & Classifications for Crigler-Najjar Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 20GeneTests, 22GTR, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 49Orphanet, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Metabolic, Liver


Characteristics (Orphanet epidemiological data):

49
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

crigler-najjar syndrome 8 21 45 31 61
crigler-najjar syndrome, type i 8 9 43 47 61
crigler najjar syndrome 8 20 22 21
crigler najjar syndrome, type 1 43 20 22
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 49
familial nonhemolytic unconjugated hyperbilirubinemia 21
hereditary unconjugated hyperbilirubinemia type 1 49
bilirubin udp glucuronyl transferase deficiency 8
hereditary unconjugated hyperbilirubinemia 21
bilirubin-ugt deficiency type 1 49
crigler-najjar syndrome type 1 49
ugt deficiency type 1 49


External Ids:

Disease Ontology8 DOID:3803
OMIM47 218800
NCIt40 C84656
MeSH35 D003414
MESH via Orphanet36 C536212
ICD10 via Orphanet26 E80.5
SNOMED-CT via Orphanet58 8933000
UMLS via Orphanet62 C2931131
ICD1025 E80.5

Related Diseases for Crigler-Najjar Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to crigler-najjar syndrome

Clinical Features for Crigler-Najjar Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

218800

Clinical synopsis from OMIM:

218800

Symptoms:

49 (show all 9)
  • autosomal recessive inheritance
  • motor deficit/trouble
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hearing loss/hypoacusia/deafness
  • hepatitis/icterus/cholestasis
  • troubles of memory/amnesia/hypermnesia
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • functional anomalies of the liver and the biliary tract

Drugs & Therapeutics for Crigler-Najjar Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Crigler-Najjar Syndrome

Drug clinical trials:

Search ClinicalTrials for Crigler-Najjar Syndrome

Search NIH Clinical Center for Crigler-Najjar Syndrome

Search CenterWatch for Crigler-Najjar Syndrome

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Crigler-Najjar Syndrome cell therapies at LifeMap Discovery.

Genetic Tests for Crigler-Najjar Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Crigler-Najjar Syndrome:

id Genetic test Affiliating Genes
1 Crigler-najjar Syndrome20 22 UGT1A1
2 Crigler-najjar Syndrome, Type I20
3 Crigler Najjar Syndrome, Type 122

Anatomical Context for Crigler-Najjar Syndrome

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Crigler-Najjar Syndrome:

33
Liver, Brain, Fetal liver

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Crigler-Najjar Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Crigler-Najjar Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Crigler-Najjar Syndrome

Sources:
51PubMed
See all sources

Articles related to Crigler-Najjar Syndrome:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. (24341141)
2013
2
Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. (22710376)
2012
3
Liver transplantation in Crigler-Najjar syndrome type I disease. (23060403)
2012
4
Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation. (22414515)
2012
5
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. (20843754)
2011
6
Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome. (21297505)
2011
7
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). (20955959)
2010
8
Liver transplant for Crigler-Najjar syndrome. (20371903)
2010
9
Total knee arthroplasty and Crigler-Najjar syndrome: a case report. (19751978)
2010
10
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. (19830808)
2010
11
Pregnancy with Crigler-Najjar syndrome type II. (19358036)
2009
12
Towards liver-directed gene therapy for Crigler-Najjar syndrome. (19355865)
2009
13
Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. (19217809)
2009
14
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I. (18376249)
2008
15
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. (18567072)
2008
16
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. (17454871)
2007
17
Crigler-Najjar syndrome type 2. (17098698)
2006
18
Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene. (16712705)
2006
19
Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China. (15953334)
2005
20
A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]. (16026101)
2005
21
Isolated hepatocyte transplantation for Crigler-Najjar syndrome type 1. (15881424)
2005
22
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype- phenotype correlation. (15712364)
2005
23
Crigler-Najjar syndrome type 1 associated with combined 1070A-->G, Q357R and (TA)7 mutation in Kuwaiti Bedouin families indicate a founder effect in Arabs. (15100530)
2004
24
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
25
A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1. (14581810)
2003
26
A non-immunogenic adenoviral vector, coexpressing CTLA4Ig and bilirubin-uridine-diphosphoglucuronateglucuronosyltransferase permits long-term, repeatable transgene expression in the Gunn rat model of Crigler-Najjar syndrome. (12101428)
2002
27
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. (12402338)
2002
28
Successful liver transplantation of two brothers with crigler-najjar syndrome type 1 using a single cadaveric organ. (11792980)
2002
29
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
30
Living-related liver transplantation for Crigler-Najjar syndrome in Saudi Arabia. (12010148)
2002
31
Management of Crigler-Najjar Syndrome type I. (11426237)
2001
32
Analysis of bilirubin uridine 5'-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler- Najjar syndrome type II. (9621515)
1998
33
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. (9039987)
1997
34
Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. (8527799)
1995
35
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
36
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. (8102509)
1993
37
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. (8280139)
1993
38
Crigler-Najjar syndrome type I: management with phototherapy crib mattress. (8259886)
1993
39
Anesthetic care of patients with Crigler-Najjar syndrome. (1734784)
1992
40
Pregnancy in Crigler-Najjar syndrome. Case report. (1777465)
1991
41
Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I. (2777735)
1989
42
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. (3306242)
1987
43
Liver transplantation in Crigler-Najjar syndrome. A case report. (3523886)
1986
44
The presence of a microsomal UDP-glucuronyl transferase for bilirubin in homozygous jaundiced Gunn rats and in the Crigler-Najjar syndrome. (6793495)
1981
45
Type 2 Crigler-Najjar syndrome. Quantitation of ultrastructural data and evolution under therapy with phenytoin. (729981)
1978
46
Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II. (1261771)
1976
47
Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies. (805737)
1975
48
A pigment found in Crigler--Najjar syndrome and its similarity to an ultrafiltrable photoderivative of bilirubin. (4434643)
1974
49
Proceedings: Prolonged survival in the Crigler-Najjar syndrome: ultrastructural and dietary studies. (4434967)
1974
50
Congenital nonhemolytic jaundice (Crigler-Najjar syndrome): report of a case. (13932187)
1963

Genetic Variations for Crigler-Najjar Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Crigler-Najjar Syndrome:

63 (show all 21)
id Symbol AA change Variation SNP ID
1UGT1A1p.Cys177ArgVAR_007697
2UGT1A1p.Gly276ArgVAR_007699
3UGT1A1p.Ala292ValVAR_007700
4UGT1A1p.Gly308GluVAR_007701
5UGT1A1p.Gln357ArgVAR_007703
6UGT1A1p.Ala368ThrVAR_007704
7UGT1A1p.Ser375PheVAR_007705
8UGT1A1p.Ser381ArgVAR_007706
9UGT1A1p.Ala401ProVAR_007707
10UGT1A1p.Lys428GluVAR_007708
11UGT1A1p.His39AspVAR_026135
12UGT1A1p.Glu291ValVAR_026138
13UGT1A1p.Arg336LeuVAR_026140
14UGT1A1p.Arg336GlnVAR_026141
15UGT1A1p.His376ArgVAR_026144
16UGT1A1p.Gly377ValVAR_026145
17UGT1A1p.Pro387SerVAR_026146
18UGT1A1p.Gly395ValVAR_026147
19UGT1A1p.Trp461ArgVAR_026149
20UGT1A1p.Lys402ThrVAR_064960
21UGT1A4p.Ser376PheVAR_007711

Expression for genes affiliated with Crigler-Najjar Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Crigler-Najjar Syndrome

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

Pathways for genes affiliated with Crigler-Najjar Syndrome

Sources:
50PharmGKB, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG, 4Cell Signaling Technology, 52QIAGEN
See all sources

Pathways related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show all 27)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9UGT1A1, UGT1A9
2
Hide members
9.9UGT1A9, UGT1A1
3
Hide members
9.9UGT1A9, UGT1A4
49.9UGT1A9, UGT1A4
59.9UGT1A6, UGT1A1
6
Hide members
9.9UGT1A6, UGT1A9
7
Hide members
9.7UGT1A9, UGT1A4, UGT1A1
89.6UGT1A6, UGT1A4, UGT1A9
99.4GPT, CNDP2, OTC
10
Hide members
9.4UGT1A1, UGT1A6, UGT1A4, UGT1A9
11
Hide members
9.4UGT1A4, UGT1A6, UGT1A1, UGT1A9
12
Hide members
9.4UGT1A9, UGT1A4, UGT1A6, UGT1A1
13
Hide members
9.4UGT1A9, UGT1A6, UGT1A1, UGT1A4
14
Acetaminophen metabolism
Hide members
9.4UGT1A9, UGT1A1, UGT1A4, UGT1A6
15
Hide members
9.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
16
Hide members
9.1POU5F1, SOX2, NANOG
179.1NANOG, POU5F1, SOX2
189.1SOX2, POU5F1, NANOG
199.1NANOG, SOX2, POU5F1
209.1NANOG, POU5F1, SOX2
219.1POU5F1, SOX2, NANOG
229.1SOX2, POU5F1, NANOG
239.1NANOG, POU5F1, SOX2
249.1NANOG, POU5F1, SOX2
25
Hide members
9.0NT5C2, NT5C1A
26
Hide members
9.0UGT1A9, UGT1A4, UGT1A6, UGT1A1, CNDP2
27
Hide members
7.6NT5C2, UGT1A1, UGT1A6, UGT1A4, UGT1A9, CNDP2

Compounds for genes affiliated with Crigler-Najjar Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 91)
idCompoundScoreTop Affiliating Genes
1n-acetylbenzidine4510.0UGT1A9, UGT1A4, UGT1A1
2acetaminophen glucuronide45 2411.0UGT1A1, UGT1A6, UGT1A9
3Ezogabine 119.9UGT1A1, UGT1A4, UGT1A9
4n-hydroxy-n-acetylbenzidine459.9UGT1A4, UGT1A9
5ethyl glucuronide45 2410.8UGT1A9, UGT1A4, UGT1A6, UGT1A1
6(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)249.8UGT1A9, UGT1A4, UGT1A6, UGT1A1
7bilirubin diglucuronide45 2410.8UGT1A9, UGT1A4, UGT1A6, UGT1A1
8aldosterone 18-glucuronide45 2410.8UGT1A9, UGT1A4, UGT1A6, UGT1A1
9etiocholanolone45 2410.8UGT1A9, UGT1A4, UGT1A6, UGT1A1
10androsterone glucuronide45 2410.7UGT1A9, UGT1A4, UGT1A6, UGT1A1
113-alpha-androstanediol glucuronide45 2410.7UGT1A1, UGT1A6, UGT1A4, UGT1A9
12sn38 glucuronide459.7UGT1A1, UGT1A9, UGT1A
13estriol29 11 2411.7UGT1A9, UGT1A4, UGT1A6, UGT1A1
14codeine45 50 29 11 2413.7UGT1A9, UGT1A4, UGT1A6, UGT1A1
152-methoxyestradiol45 60 2411.7UGT1A1, UGT1A6, UGT1A4, UGT1A9
16udp glucuronic acid459.6UGT1A1, UGT1A6, UGT1A
17lamotrigine45 1110.5UGT1A, UGT1A4, UGT1A6, UGT1A1
184-methylumbelliferone459.5UGT1A, UGT1A9, UGT1A6, UGT1A1
191-naphthol459.5UGT1A, UGT1A9, UGT1A6, UGT1A1
20flurbiprofen45 29 50 1112.5UGT1A1, UGT1A9, UGT1A
21phip459.5UGT1A1, UGT1A4, UGT1A9, UGT1A
22buprenorphine45 29 1111.5UGT1A, UGT1A9, UGT1A1
23beta-naphthoflavone45 1110.5UGT1A1, UGT1A6, UGT1A9, UGT1A
24phenol45 2410.4UGT1A, UGT1A9, UGT1A6, UGT1A1
25sn 3845 6010.4UGT1A1, UGT1A9, UGT1A
26benzo(a)pyrene459.4UGT1A, UGT1A9, UGT1A6, UGT1A1
27mycophenolate mofetil45 50 1111.4UGT1A, UGT1A9, UGT1A1, GPT
28mycophenolic acid45 50 1111.3UGT1A1, UGT1A9, UGT1A
29irinotecan45 50 1111.3UGT1A, UGT1A9, UGT1A6, UGT1A1
30n-hydroxy phip459.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
31rifampicin45 29 6011.3UGT1A, UGT1A6, UGT1A1, GPT
32glucuronide459.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
33benzidine459.3UGT1A1, UGT1A6, UGT1A4, UGT1A9, UGT1A
34cotinine45 2410.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
35p-nitrophenol45 1110.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
36uridine diphosphate459.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
37trifluoperazine45 29 1111.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
38propofol45 50 1111.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
39diclofenac45 29 50 1112.3UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
40imipramine45 50 29 11 2413.2UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
41estrone45 29 11 2412.2UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
42morphine45 50 29 1112.2UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
43tamoxifen45 50 29 1112.0UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
44acetaminophen45 2 50 11 2412.9UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1, GPT
45troglitazone45 29 60 1111.9UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1, GPT
46nicotine45 50 29 1111.9UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1, GPT
47valproic acid45 50 11 2411.6UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1, GPT
48estradiol45 11 2410.5UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
49retinoic acid45 249.2SOX2, UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
50uridine45 11 249.9NT5C2, NT5C1A, UGT1A1, UGT1A6, UGT1A4, UGT1A9

GO Terms for genes affiliated with Crigler-Najjar Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1flavone metabolic processGO:05155210.1UGT1A1, UGT1A9
2flavonoid glucuronidationGO:05269610.1UGT1A1, UGT1A9
3xenobiotic glucuronidationGO:05269710.1UGT1A1, UGT1A9
4retinoic acid metabolic processGO:04257310.0UGT1A1, UGT1A9
5negative regulation of catalytic activityGO:0430869.9UGT1A9, UGT1A1
6cellular glucuronidationGO:0526959.9UGT1A1, UGT1A6, UGT1A4
7metabolic processGO:0081529.6UGT1A6, UGT1A9
8endodermal cell fate specificationGO:0017149.4SOX2, POU5F1, NANOG
9drug metabolic processGO:0171449.4UGT1A1, NT5C2, UGT1A9
10cellular nitrogen compound metabolic processGO:0346419.3OTC, CNDP2, GPT
11somatic stem cell maintenanceGO:0350199.3NANOG, SOX2, POU5F1
12regulation of gene expressionGO:0104689.3POU5F1, NANOG, SOX2
13xenobiotic metabolic processGO:0068059.3UGT1A9, UGT1A4, UGT1A6, UGT1A1, CNDP2
14purine nucleotide catabolic processGO:0061959.1NT5C1A, NT5C2
15purine nucleobase metabolic processGO:0061449.0NT5C1A, NT5C2
16small molecule metabolic processGO:0442817.2UGT1A4, UGT1A6, UGT1A1, NT5C1A, NT5C2, CNDP2

Molecular functions related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1enzyme inhibitor activityGO:0048579.6UGT1A1, UGT1A9
2miRNA bindingGO:0351989.6POU5F1, SOX2
3retinoic acid bindingGO:0019729.5UGT1A1, UGT1A6, UGT1A4, UGT1A9
4glucuronosyltransferase activityGO:0150209.5UGT1A9, UGT1A4, UGT1A1, UGT1A6
5enzyme bindingGO:0198999.4UGT1A4, UGT1A9, UGT1A6, UGT1A1
6protein homodimerization activityGO:0428039.4UGT1A4, UGT1A9, UGT1A1, UGT1A6
7protein heterodimerization activityGO:0469829.3UGT1A4, UGT1A6, UGT1A1, UGT1A9

Products for genes affiliated with Crigler-Najjar Syndrome

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  • Antibodies

Sources for Crigler-Najjar Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet