MCID: CRG001
MIFTS: 72

Crigler-Najjar Syndrome malady

Metabolic diseases, Liver diseases, Genetic diseases categories

Summaries for Crigler-Najjar Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 troubles of memory/amnesia/hypermnesia, intellectual deficit/mental/psychomotor retardation/learning disability 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 and brain.

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

Description from OMIM:46 218800

Aliases & Classifications for Crigler-Najjar Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 44 30 60
crigler-najjar syndrome, type i 8 9 42 46 60
crigler najjar syndrome 8 20 22 21
crigler najjar syndrome, type 1 42 20 22
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 48
familial nonhemolytic unconjugated hyperbilirubinemia 21
hereditary unconjugated hyperbilirubinemia type 1 48
bilirubin udp glucuronyl transferase deficiency 8
hereditary unconjugated hyperbilirubinemia 21
bilirubin-ugt deficiency type 1 48
crigler-najjar syndrome type 1 48
ugt deficiency type 1 48


External Ids:

Disease Ontology8 DOID:3803
OMIM46 218800
NCIt39 C84656
MeSH34 D003414
MESH via Orphanet35 C536212
ICD10 via Orphanet26 E80.5
SNOMED-CT via Orphanet57 8933000
UMLS via Orphanet61 C2931131
ICD1025 E80.5

Related Diseases for Crigler-Najjar Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Crigler-Najjar Syndrome:



Diseases related to crigler-najjar syndrome

Clinical Features for Crigler-Najjar Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

218800

Clinical synopsis from OMIM:

218800

Symptoms:

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

Drugs & Therapeutics for Crigler-Najjar Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Crigler-Najjar Syndrome:

32
Liver, Brain

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

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Publications for Crigler-Najjar Syndrome

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Sources:
50PubMed
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Articles related to Crigler-Najjar Syndrome:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Perioperative management of a patient with hemophilia A and crigler-najjar syndrome. (24250018)
2013
2
Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature. (24217087)
2013
3
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. (22094718)
2012
4
Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation. (23162302)
2012
5
Crigler-Najjar syndrome II and pregnancy outcome. (22296437)
2012
6
Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient. (22633750)
2012
7
A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome. (22340355)
2011
8
Living related liver transplantation in Crigler-Najjar syndrome type 1. (19765461)
2009
9
Large deletion in UGT1A1 gene encompassing the promoter and the exon 1 responsible for Crigler-Najjar type I syndrome. (18698077)
2008
10
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. (18004206)
2007
11
Clinical utility of electrophysiological evaluation in Crigler-Najjar syndrome. (18058623)
2007
12
The anesthetic implications of Crigler-Najjar syndrome. (17242105)
2007
13
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II. (16830281)
2006
14
Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. (16456422)
2006
15
Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. (16211719)
2005
16
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. (15586176)
2005
17
Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus]. (12371080)
2002
18
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. (11983459)
2002
19
Kernicterus in a child with Crigler-Najjar Syndrome Type II. (12170921)
2002
20
A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1. (11855932)
2002
21
Cerebellar symptoms heralding bilirubin encephalopathy in Crigler-Najjar syndrome. (12393137)
2002
22
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. (11668224)
2001
23
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. (11013440)
2000
24
Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I. (10203091)
1999
25
Threshold concentration of unbound bilirubin to induce neurological deficits in a patient with type I Crigler-Najjar syndrome. (10376077)
1999
26
Diagnosis and management of Crigler-Najjar syndrome. (10603107)
1999
27
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. (9580649)
1998
28
Crigler-Najjar syndrome in Saudi Arabia. (9738861)
1998
29
Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II. (9630669)
1998
30
Gene therapy with bilirubin-UDP-glucuronosyltransferase in the Gunn rat model of Crigler-Najjar syndrome type 1. (9525311)
1998
31
Hepatobiliary imaging in Crigler-Najjar syndrome type 2. (9814573)
1998
32
Neurologic perspectives of Crigler-Najjar syndrome type I. (9660509)
1998
33
Lack of deafness in Crigler-Najjar syndrome type 1: a patient survey. (9347003)
1997
34
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
35
Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I. (8938045)
1996
36
Glucuronidation of diflunisal, (-)-morphine, 4-nitrophenol, and propofol in liver microsomes of two patients with Crigler-Najjar syndrome type I. (8743402)
1996
37
Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. (8733132)
1996
38
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
39
Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance. (7821116)
1995
40
Type II crigler-Najjar syndrome with intrahepatic cholestasis. (8012512)
1994
41
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. (7989045)
1994
42
Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I]. (8096554)
1993
43
Mechanisms of inherited deficiencies of multiple UDP- glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. (1634050)
1992
44
Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome. (1749222)
1991
45
Acute hepatitis in Crigler-Najjar syndrome. (3115090)
1987
46
Familial nonhemolytic unconjugated hyperbilirubinemia (Crigler Najjar syndrome) with kernicterus - report of a case in Zambian child. (7140605)
1982
47
Prolonged neonatal jaundice: a manifestation of heterozygote state for Crigler--Najjar syndrome? (6821110)
1982
48
Clinical conference. Crigler-Najjar syndrome (type I) in an adult male. (422012)
1979
49
Animal model of human disease. Crigler-Najjar Syndrome. Animal model: hereditary nonhemolytic unconjugated hyperbilirubinemia in Gunn rats. (4634741)
1972
50
Congenital non-hemolytic jaundice: Crigler-Najjar syndrome. (5357731)
1969

Genetic Variations for Crigler-Najjar Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Crigler-Najjar Syndrome:

62 (show all 21)
id Symbol AA change Variation ID 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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG, 4Cell Signaling Technology, 51QIAGEN
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Pathways related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Crigler-Najjar Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 91)
idCompoundScoreTop Affiliating Genes
1n-acetylbenzidine4410.0UGT1A4, UGT1A9, UGT1A1
2acetaminophen glucuronide44 2411.0UGT1A9, UGT1A6, UGT1A1
3Ezogabine 119.9UGT1A9, UGT1A1, UGT1A4
4n-hydroxy-n-acetylbenzidine449.9UGT1A9, UGT1A4
5ethyl glucuronide44 2410.8UGT1A9, UGT1A6, UGT1A1, UGT1A4
6bilirubin diglucuronide44 2410.8UGT1A4, UGT1A1, UGT1A9, UGT1A6
7(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)249.8UGT1A9, UGT1A4, UGT1A6, UGT1A1
8etiocholanolone44 2410.8UGT1A6, UGT1A1, UGT1A9, UGT1A4
9aldosterone 18-glucuronide44 2410.8UGT1A6, UGT1A1, UGT1A4, UGT1A9
10androsterone glucuronide44 2410.7UGT1A4, UGT1A6, UGT1A1, UGT1A9
113-alpha-androstanediol glucuronide44 2410.7UGT1A1, UGT1A6, UGT1A4, UGT1A9
12sn38 glucuronide449.7UGT1A9, UGT1A, UGT1A1
13estriol28 11 2411.7UGT1A6, UGT1A9, UGT1A4, UGT1A1
14codeine44 49 28 11 2413.7UGT1A6, UGT1A9, UGT1A4, UGT1A1
152-methoxyestradiol44 59 2411.7UGT1A6, UGT1A4, UGT1A1, UGT1A9
16udp glucuronic acid449.6UGT1A6, UGT1A1, UGT1A
17lamotrigine44 1110.5UGT1A6, UGT1A, UGT1A4, UGT1A1
181-naphthol449.5UGT1A9, UGT1A6, UGT1A, UGT1A1
194-methylumbelliferone449.5UGT1A, UGT1A1, UGT1A6, UGT1A9
20flurbiprofen44 28 49 1112.5UGT1A, UGT1A1, UGT1A9
21phip449.5UGT1A, UGT1A9, UGT1A4, UGT1A1
22buprenorphine44 28 1111.5UGT1A, UGT1A9, UGT1A1
23beta-naphthoflavone44 1110.5UGT1A6, UGT1A1, UGT1A9, UGT1A
24phenol44 2410.4UGT1A, UGT1A1, UGT1A6, UGT1A9
25sn 3844 5910.4UGT1A1, UGT1A, UGT1A9
26benzo(a)pyrene449.4UGT1A, UGT1A9, UGT1A6, UGT1A1
27mycophenolate mofetil44 49 1111.4UGT1A, UGT1A9, GPT, UGT1A1
28mycophenolic acid44 49 1111.3UGT1A1, UGT1A9, UGT1A
29irinotecan44 49 1111.3UGT1A, UGT1A9, UGT1A6, UGT1A1
30n-hydroxy phip449.3UGT1A, UGT1A6, UGT1A9, UGT1A1, UGT1A4
31rifampicin44 28 5911.3UGT1A, UGT1A6, UGT1A1, GPT
32glucuronide449.3UGT1A4, UGT1A6, UGT1A1, UGT1A9, UGT1A
33benzidine449.3UGT1A1, UGT1A, UGT1A6, UGT1A4, UGT1A9
34cotinine44 2410.3UGT1A1, UGT1A6, UGT1A4, UGT1A9, UGT1A
35p-nitrophenol44 1110.3UGT1A9, UGT1A1, UGT1A6, UGT1A4, UGT1A
36uridine diphosphate449.3UGT1A1, UGT1A6, UGT1A9, UGT1A4, UGT1A
37trifluoperazine44 28 1111.3UGT1A1, UGT1A6, UGT1A9, UGT1A, UGT1A4
38propofol44 49 1111.3UGT1A1, UGT1A4, UGT1A6, UGT1A9, UGT1A
39diclofenac44 28 49 1112.3UGT1A, UGT1A1, UGT1A6, UGT1A4, UGT1A9
40imipramine44 49 28 11 2413.2UGT1A1, UGT1A4, UGT1A9, UGT1A, UGT1A6
41estrone44 28 11 2412.2UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
42morphine44 49 28 1112.2UGT1A, UGT1A6, UGT1A4, UGT1A9, UGT1A1
43tamoxifen44 49 28 1112.0UGT1A9, UGT1A6, UGT1A1, UGT1A4, UGT1A
44acetaminophen44 2 49 11 2412.9UGT1A9, UGT1A6, UGT1A1, GPT, UGT1A, UGT1A4
45troglitazone44 28 59 1111.9GPT, UGT1A1, UGT1A, UGT1A6, UGT1A9, UGT1A4
46nicotine44 49 28 1111.9UGT1A6, UGT1A9, UGT1A4, GPT, UGT1A1, UGT1A
47valproic acid44 49 11 2411.6UGT1A, UGT1A9, UGT1A4, UGT1A1, OTC, GPT
48estradiol44 11 2410.5UGT1A, UGT1A9, UGT1A4, UGT1A6, UGT1A1
49retinoic acid44 249.2UGT1A1, UGT1A4, POU5F1, UGT1A6, UGT1A9, UGT1A
50uridine44 11 249.9UGT1A, NT5C2, UGT1A6, UGT1A9, UGT1A4, UGT1A1

GO Terms for genes affiliated with Crigler-Najjar Syndrome

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16Gene Ontology
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Biological processes related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

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

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

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

Products for genes affiliated with Crigler-Najjar Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Crigler-Najjar Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet