MCID: CRG001
MIFTS: 69

Crigler-Najjar Syndrome malady

Genetic diseases, Rare diseases, Liver diseases categories
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Summaries for Crigler-Najjar Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 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 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 Statin Pathway - Generalized, Pharmacokinetics and Nicotine Pathway, Pharmacokinetics. The compounds ethyl glucuronide and eltrombopag 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:65 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

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 62UMLS, 35MeSH, 40NCIt, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:

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


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 62
crigler-najjar syndrome, type i 8 9 43 47 62
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
MeSH35 D003414
OMIM47 218800
NCIt40 C84656
MESH via Orphanet36 C536212
ICD10 via Orphanet26 E80.5
SNOMED-CT via Orphanet59 8933000
UMLS via Orphanet63 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

Symptoms for Crigler-Najjar Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

218800

Clinical features from OMIM:

218800

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Crigler-Najjar Syndrome

Search NIH Clinical Center 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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Crigler-Najjar Syndrome:

33
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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52PubMed
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Articles related to Crigler-Najjar Syndrome:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation. (24286076)
2013
2
Perioperative management of a patient with hemophilia A and crigler-najjar syndrome. (24250018)
2013
3
Rhabdomyolysis-induced acute renal failure associated with 2009 influenza A (H1N1) virus infection in a child with Crigler-Najjar syndrome. (20828972)
2012
4
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. (22094718)
2012
5
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. (20843754)
2011
6
A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome. (22340355)
2011
7
Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome. (19953640)
2010
8
Pregnancy with Crigler-Najjar syndrome type II. (19358036)
2009
9
Towards liver-directed gene therapy for Crigler-Najjar syndrome. (19355865)
2009
10
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I. (18376249)
2008
11
Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia. (18555136)
2008
12
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. (17454871)
2007
13
Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China. (15953334)
2005
14
A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]. (16026101)
2005
15
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
16
Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. (15304120)
2004
17
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
18
Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I. (14722376)
2003
19
Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus]. (12371080)
2002
20
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
21
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. (11330728)
2001
22
Management of Crigler-Najjar Syndrome type I. (11426237)
2001
23
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. (9580649)
1998
24
Crigler-Najjar syndrome in Saudi Arabia. (9738861)
1998
25
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
26
Gene therapy with bilirubin-UDP-glucuronosyltransferase in the Gunn rat model of Crigler-Najjar syndrome type 1. (9525311)
1998
27
Hepatobiliary imaging in Crigler-Najjar syndrome type 2. (9814573)
1998
28
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. (9039987)
1997
29
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
30
Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. (8527799)
1995
31
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
32
Type II crigler-Najjar syndrome with intrahepatic cholestasis. (8012512)
1994
33
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. (8102509)
1993
34
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. (8514037)
1993
35
Anesthetic care of patients with Crigler-Najjar syndrome. (1734784)
1992
36
Mechanisms of inherited deficiencies of multiple UDP- glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. (1634050)
1992
37
Pregnancy in Crigler-Najjar syndrome. Case report. (1777465)
1991
38
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. (3306242)
1987
39
Acute hepatitis in Crigler-Najjar syndrome. (3115090)
1987
40
The liver in Crigler-Najjar syndrome, protoporphyria, and other metabolic disorders. (6693070)
1984
41
Long term phototherapy in Crigler-Najjar syndrome. (6859942)
1983
42
Familial nonhemolytic unconjugated hyperbilirubinemia (Crigler Najjar syndrome) with kernicterus - report of a case in Zambian child. (7140605)
1982
43
Prolonged neonatal jaundice: a manifestation of heterozygote state for Crigler--Najjar syndrome? (6821110)
1982
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
The effect of repeated phlebotomy on bilirubin turnover, bilirubin clearance and unconjugated hyperbilirubinaemia in the Crigler-Najjar syndrome and the jaundiced Gunn rat: application of computers to experimental design. (1277744)
1976
47
Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II. (1261771)
1976
48
A pigment found in Crigler--Najjar syndrome and its similarity to an ultrafiltrable photoderivative of bilirubin. (4434643)
1974
49
Crigler-Najjar syndrome: an unusual course with development of neurologic damage at age eighteen. (4825526)
1974
50
Animal model of human disease. Crigler-Najjar Syndrome. Animal model: hereditary nonhemolytic unconjugated hyperbilirubinemia in Gunn rats. (4634741)
1972

Variations for Crigler-Najjar Syndrome

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64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Crigler-Najjar Syndrome:

64 (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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2BioGPS, 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:
50PathCards, 51PharmGKB, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome, 60Thomson Reuters, 30KEGG
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Pathways related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6UGT1A1, UGT1A9
2
Show member pathways
Nicotine metabolism38
9.6UGT1A9, UGT1A4
3
Show member pathways
AhR pathway38
9.6UGT1A1, UGT1A6
49.1UGT1A9, UGT1A6, UGT1A1
59.1UGT1A4, UGT1A9, UGT1A6
6
Show member pathways
8.7UGT1A4, UGT1A6, UGT1A1, UGT1A9
7
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
8.7UGT1A6, UGT1A4, UGT1A1, UGT1A9
8
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism38
8.7UGT1A4, UGT1A6, UGT1A9, UGT1A1
9
Show member pathways
8.7UGT1A4, UGT1A9, UGT1A6, UGT1A1
10
Show member pathways
8.7UGT1A4, UGT1A1, UGT1A9, UGT1A6
118.7UGT1A9, UGT1A6, UGT1A1, UGT1A4
12
Show member pathways
8.7UGT1A1, UGT1A4, UGT1A9, UGT1A6
13
Show member pathways
8.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
14
Show member pathways
8.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
15
Show member pathways
7.3UGT1A9, UGT1A6, UGT1A1, GPT, OTC, UGT1A4

Compounds for genes affiliated with Crigler-Najjar Syndrome

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 3BitterDB, 61Tocris Bioscience
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Compounds related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 174)
idCompoundScoreTop Affiliating Genes
1ethyl glucuronide45 2410.1UGT1A4, UGT1A6, UGT1A1, UGT1A9
2eltrombopag51 1110.1UGT1A1, UGT1A4, UGT1A9, UGT1A6
3Estriol-17-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
4Estriol-16-Glucuronide249.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
5Estriol-3-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
6Estrone glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
7Estriol 3-sulfate 16-glucuronide249.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
8Cholestane-3,7,12,25-tetrol-3-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
9Dopamine glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
10Epinephrine glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
11Retinyl beta-glucuronide249.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
12Testosterone glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
13Tetrahydroaldosterone-3-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
14lamotrigine45 51 1111.0UGT1A1, UGT1A, UGT1A6, UGT1A4
15Thyroxine glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
16Phenethylamine glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
17Pregnanediol-3-glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
181-naphthol459.0UGT1A, UGT1A9, UGT1A6, UGT1A1
194-methylumbelliferone459.0UGT1A9, UGT1A, UGT1A6, UGT1A1
20Retinoyl b-glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2111-Oxo-androsterone glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2217-beta-estradiol glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2317-beta-estradiol-3-glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2417-hydroxyandrostane-3-glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
252-Methoxy-estradiol-17b 3-glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2617-alpha-estradiol-3-glucuronide248.9UGT1A4, UGT1A9, UGT1A1, UGT1A6
2715-hydroxynorandrostene-3,17-dione glucuronide248.9UGT1A1, UGT1A6, UGT1A9, UGT1A4
2816-alpha,17-beta-estriol 17-beta-D-glucuronide248.9UGT1A1, UGT1A6, UGT1A9, UGT1A4
296-Dehydrotestosterone glucuronide248.9UGT1A9, UGT1A4, UGT1A6, UGT1A1
306-Hydroxy-5-methoxyindole glucuronide248.8UGT1A1, UGT1A6, UGT1A9, UGT1A4
31Benzoyl glucuronide (Benzoic acid)248.8UGT1A1, UGT1A6, UGT1A9, UGT1A4
32Bilirubin glucuronide248.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
335-Hydroxy-6-methoxyindole glucuronide248.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
34n-hydroxy phip458.6UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
35benzidine458.6UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
36glucuronide458.6UGT1A1, UGT1A6, UGT1A9, UGT1A4, UGT1A
37cotinine45 249.6UGT1A, UGT1A6, UGT1A4, UGT1A1, UGT1A9
38p-nitrophenol45 119.6UGT1A6, UGT1A9, UGT1A4, UGT1A, UGT1A1
39uridine diphosphate458.6UGT1A4, UGT1A1, UGT1A6, UGT1A9, UGT1A
40trifluoperazine45 29 51 1111.6UGT1A9, UGT1A, UGT1A6, UGT1A1, UGT1A4
41propofol45 51 1110.6UGT1A1, UGT1A9, UGT1A6, UGT1A, UGT1A4
424-Hydroxyandrostenedione glucuronide248.6UGT1A1, UGT1A6, UGT1A9, UGT1A4
43diclofenac45 29 51 1111.6UGT1A4, UGT1A9, UGT1A, UGT1A6, UGT1A1
44imipramine45 29 51 24 1112.6UGT1A, UGT1A6, UGT1A1, UGT1A9, UGT1A4
45uridine45 24 1110.6UGT1A4, UGT1A6, UGT1A1, UGT1A9, UGT1A
465-alpha-Dihydrotestosterone glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
47acetaminophen45 3 51 24 1111.8UGT1A6, UGT1A4, UGT1A, UGT1A9, UGT1A1, GPT
48troglitazone45 29 61 1110.8UGT1A4, UGT1A9, UGT1A6, UGT1A1, GPT, UGT1A
49nicotine45 29 51 1110.8UGT1A6, UGT1A9, UGT1A, GPT, UGT1A4, UGT1A1
50valproic acid45 51 24 1110.2UGT1A, GPT, UGT1A6, UGT1A9, UGT1A4, UGT1A1

GO Terms for genes affiliated with Crigler-Najjar Syndrome

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16Gene Ontology
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Cellular components related to Crigler-Najjar Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.7UGT1A1, UGT1A6, UGT1A9, UGT1A4

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cellular glucuronidationGO:20010309.8UGT1A9, UGT1A1
2flavonoid glucuronidationGO:0526969.8UGT1A1, UGT1A9
3xenobiotic glucuronidationGO:0526979.8UGT1A1, UGT1A9
4flavone metabolic processGO:0515529.7UGT1A1, UGT1A9
5retinoic acid metabolic processGO:0425739.6UGT1A9, UGT1A1
6drug metabolic processGO:0171449.5UGT1A1, UGT1A9
7liver developmentGO:0018899.5OTC, UGT1A1
8cellular glucuronidationGO:0526959.4UGT1A1, UGT1A6, UGT1A4
9negative regulation of catalytic activityGO:0430869.3UGT1A1, UGT1A9
10xenobiotic metabolic processGO:0068058.9UGT1A4, UGT1A9, UGT1A6, UGT1A1
11small molecule metabolic processGO:0442817.5UGT1A4, UGT1A9, UGT1A6, UGT1A1, GPT, OTC

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

idNameGO IDScoreTop Affiliating Genes
1enzyme inhibitor activityGO:0048579.6UGT1A1, UGT1A9
2retinoic acid bindingGO:0019728.8UGT1A1, UGT1A6, UGT1A9, UGT1A4
3glucuronosyltransferase activityGO:0150208.8UGT1A4, UGT1A9, UGT1A6, UGT1A1
4enzyme bindingGO:0198998.7UGT1A4, UGT1A9, UGT1A6, UGT1A1
5protein heterodimerization activityGO:0469828.6UGT1A1, UGT1A6, UGT1A9, UGT1A4
6protein homodimerization activityGO:0428038.4UGT1A4, UGT1A9, UGT1A6, UGT1A1

Products for genes affiliated with Crigler-Najjar Syndrome

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Sources for Crigler-Najjar Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet