MCID: CRG001
MIFTS: 72

Crigler-Najjar Syndrome malady

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

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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 based summary: 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 functional anomalies of the liver and the biliary tract, hepatitis/icterus/cholestasis and autosomal recessive inheritance. 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...

Descriptions from OMIM:46 218800,606785

Aliases & Classifications for Crigler-Najjar Syndrome

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Crigler-Najjar Syndrome, Aliases & Descriptions:

Name: Crigler-Najjar Syndrome 30 8 21 44 48 62
Crigler-Najjar Syndrome, Type I 8 9 42 46 62
Crigler Najjar Syndrome 8 20 22 21
Hereditary Unconjugated Hyperbilirubinemia 21 48 62
Crigler Najjar Syndrome, Type 1 42 20 22
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 21 62
Bilirubin Udp Glucuronyl Transferase Deficiency 8 62
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 48
 
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 48
Hereditary Unconjugated Hyperbilirubinemia Type 1 48
Bilirubin-Ugt Deficiency Type 1 48
Crigler-Najjar Syndrome Type 1 48
Bilirubin-Ugt Deficiency 48
Ugt Deficiency Type 1 48
Ugt Deficiency 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
crigler-najjar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

Disease Ontology8 DOID:3803
MeSH34 D003414
NCIt39 C84656
MESH via Orphanet35 D003414, C536212
ICD10 via Orphanet26 E80.5
UMLS via Orphanet63 C0010324, C2931131
ICD1025 E80.5

Related Diseases for Crigler-Najjar Syndrome

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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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Symptoms by clinical synopsis from OMIM:

218800

Clinical features from OMIM:

218800,606785

Symptoms:

48 (show all 14)
  • functional anomalies of the liver and the biliary tract
  • hepatitis/icterus/cholestasis
  • autosomal recessive inheritance
  • stillbirth/neonatal death
  • hypotonia
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • dizziness
  • hearing loss/hypoacusia/deafness
  • encephalitis
  • motor deficit/trouble
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • troubles of memory/amnesia/hypermnesia

HPO human phenotypes related to Crigler-Najjar Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 abnormality of the liver hallmark (90%) HP:0001392
2 abnormality of the liver hallmark (90%) HP:0001392
3 muscular hypotonia typical (50%) HP:0001252
4 hearing impairment occasional (7.5%) HP:0000365
5 ophthalmoparesis occasional (7.5%) HP:0000597
6 seizures occasional (7.5%) HP:0001250
7 vertigo occasional (7.5%) HP:0002321
8 memory impairment occasional (7.5%) HP:0002354
9 encephalitis occasional (7.5%) HP:0002383
10 reduced consciousness/confusion occasional (7.5%) HP:0004372
11 hearing impairment occasional (7.5%) HP:0000365
12 ophthalmoparesis occasional (7.5%) HP:0000597
13 seizures occasional (7.5%) HP:0001250
14 memory impairment occasional (7.5%) HP:0002354
15 autosomal recessive inheritance HP:0000007
16 jaundice HP:0000952
17 encephalopathy HP:0001298
18 kernicterus HP:0001343
19 unconjugated hyperbilirubinemia HP:0008282

Drugs & Therapeutics for Crigler-Najjar Syndrome

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Drug clinical trials:

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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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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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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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Articles related to Crigler-Najjar Syndrome:

(show top 50)    (show all 140)
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
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
15
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
16
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
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
Liver transplantation in Crigler-Najjar syndrome. A case report. (3523886)
1986
41
The liver in Crigler-Najjar syndrome, protoporphyria, and other metabolic disorders. (6693070)
1984
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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UniProtKB/Swiss-Prot genetic disease variations for Crigler-Najjar Syndrome:

64 (show all 22)
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
21UGT1A1p.Asp36AsnVAR_071402
22UGT1A4p.Ser376PheVAR_007711

Clinvar genetic disease variations for Crigler-Najjar Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1NM_000463.2(UGT1A1): c.992A> G (p.Gln331Arg)single nucleotide variantPathogenicrs72551348GRCh37Chr 2, 234675807: 234675807
2NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs35350960GRCh37Chr 2, 234669619: 234669619
3UGT1A1*28duplicationPathogenicrs34983651GRCh37Chr 2, 234668880: 234668893
4NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp)single nucleotide variantPathogenicrs34993780GRCh37Chr 2, 234681059: 234681059
5UGT1A1UGT1A1, 1-BP DEL, 1223AdeletionPathogenic
6NM_000463.2(UGT1A1): c.524T> A (p.Leu175Gln)single nucleotide variantPathogenicrs72551341GRCh37Chr 2, 234669457: 234669457
7NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp)single nucleotide variantPathogenicrs28934877GRCh37Chr 2, 234676979: 234676979
8NM_000463.2(UGT1A1): c.44T> G (p.Leu15Arg)single nucleotide variantPathogenicrs111033541GRCh37Chr 2, 234668977: 234668977

Expression for genes affiliated with Crigler-Najjar Syndrome

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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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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
9.7UGT1A1, UGT1A9
2
Show member pathways
Nicotine metabolism37
9.6UGT1A9, UGT1A4
3
Show member pathways
AhR pathway37
9.6UGT1A1, UGT1A6
49.2UGT1A9, UGT1A6, UGT1A1
59.1UGT1A6, UGT1A9, UGT1A4
6
Show member pathways
tetrapyrrole biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
8.7UGT1A4, UGT1A9, UGT1A6, UGT1A1
7
Show member pathways
8.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
8
Show member pathways
8.7UGT1A4, UGT1A9, UGT1A6, UGT1A1
9
Show member pathways
8.7UGT1A4, UGT1A9, UGT1A6, UGT1A1
10
Show member pathways
8.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
11
Show member pathways
8.7UGT1A4, UGT1A9, UGT1A6, UGT1A1
128.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
13
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
8.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
14
Show member pathways
8.7UGT1A4, UGT1A9, UGT1A6, UGT1A1
15
Show member pathways
7.3UGT1A4, UGT1A9, UGT1A6, UGT1A1, GPT, OTC

Compounds for genes affiliated with Crigler-Najjar Syndrome

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

(show top 50)    (show all 177)
idCompoundScoreTop Affiliating Genes
1ethyl glucuronide44 2410.2UGT1A4, UGT1A6, UGT1A1, UGT1A9
2eltrombopag50 1110.1UGT1A1, UGT1A4, UGT1A9, UGT1A6
3Dextrorphan O-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
4Deoxycholic acid 3-glucuronide249.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
5Inodxyl glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
6Isovalerylglucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
7Dehydroisoandrosterone 3-glucuronide249.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
8Cortolone-3-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
9Cotinineglucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
10Dehydroepiandrosterone 3-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
11trans-3-Hydroxycotinine glucuronide249.1UGT1A9, UGT1A4, UGT1A6, UGT1A1
12Triiodothyronine glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
13Tyramine glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
14lamotrigine44 50 1111.1UGT1A1, UGT1A6, UGT1A, UGT1A4
15Valproic acid glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
16Ketoprofen glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
17Lithocholate 3-O-glucuronide249.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
181-naphthol449.1UGT1A6, UGT1A, UGT1A1, UGT1A9
194-methylumbelliferone449.0UGT1A1, UGT1A6, UGT1A, UGT1A9
20Nicotine glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
211-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2211-Oxo-androsterone glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2315-hydroxynorandrostene-3,17-dione glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2416-alpha,17-beta-estriol 17-beta-D-glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2525-Hydroxyvitamin D2-25-glucuronide249.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
2611-Hydroxyprogesterone 11-glucuronide249.0UGT1A4, UGT1A9, UGT1A1, UGT1A6
271-Salicylate glucuronide248.9UGT1A1, UGT1A6, UGT1A9, UGT1A4
2811-beta-hydroxyandrosterone-3-glucuronide248.9UGT1A1, UGT1A6, UGT1A9, UGT1A4
293-Methoxy-4-hydroxyphenylglycol glucuronide248.9UGT1A9, UGT1A4, UGT1A6, UGT1A1
304-Hydroxyandrostenedione glucuronide248.9UGT1A1, UGT1A6, UGT1A9, UGT1A4
315-alpha-Dihydrotestosterone glucuronide248.8UGT1A1, UGT1A6, UGT1A9, UGT1A4
32Cholic acid glucuronide248.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
333-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide248.7UGT1A1, UGT1A6, UGT1A9, UGT1A4
34n-hydroxy phip448.7UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
35glucuronide448.7UGT1A1, UGT1A6, UGT1A9, UGT1A4, UGT1A
36benzidine448.7UGT1A6, UGT1A9, UGT1A1, UGT1A, UGT1A4
37cotinine44 249.7UGT1A9, UGT1A6, UGT1A4, UGT1A1, UGT1A
38p-nitrophenol44 119.7UGT1A6, UGT1A, UGT1A9, UGT1A4, UGT1A1
39uridine diphosphate448.7UGT1A4, UGT1A1, UGT1A9, UGT1A6, UGT1A
40trifluoperazine44 28 50 1111.7UGT1A4, UGT1A9, UGT1A6, UGT1A1, UGT1A
41propofol44 50 1110.6UGT1A4, UGT1A6, UGT1A, UGT1A9, UGT1A1
423,17-Androstanediol glucuronide248.6UGT1A1, UGT1A6, UGT1A9, UGT1A4
43diclofenac44 28 50 1111.6UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
44imipramine44 28 50 24 1112.6UGT1A, UGT1A4, UGT1A9, UGT1A6, UGT1A1
45uridine44 24 1110.6UGT1A1, UGT1A6, UGT1A9, UGT1A, UGT1A4
463-alpha,20-alpha-dihydroxy-5-beta-pregnane 3-glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
47acetaminophen44 2 50 24 1111.8UGT1A6, UGT1A4, UGT1A, UGT1A9, UGT1A1, GPT
48troglitazone44 28 61 1110.8UGT1A9, UGT1A4, UGT1A, UGT1A6, UGT1A1, GPT
49nicotine44 28 50 1110.8UGT1A6, UGT1A1, UGT1A9, UGT1A, UGT1A4, GPT
50valproic acid44 50 24 1110.2UGT1A, GPT, UGT1A6, UGT1A9, UGT1A4, UGT1A1

GO Terms for genes affiliated with Crigler-Najjar Syndrome

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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:20010309.9UGT1A9, UGT1A1
2flavonoid glucuronidationGO:0526969.8UGT1A1, UGT1A9
3xenobiotic glucuronidationGO:0526979.8UGT1A1, UGT1A9
4flavone metabolic processGO:0515529.7UGT1A1, UGT1A9
5retinoic acid metabolic processGO:0425739.7UGT1A9, UGT1A1
6drug metabolic processGO:0171449.6UGT1A1, UGT1A9
7liver developmentGO:0018899.5OTC, UGT1A1
8cellular glucuronidationGO:0526959.4UGT1A1, UGT1A6, UGT1A4
9negative regulation of catalytic activityGO:0430869.4UGT1A1, UGT1A9
10xenobiotic metabolic processGO:0068059.0UGT1A4, 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:0048579.7UGT1A1, UGT1A9
2retinoic acid bindingGO:0019728.9UGT1A1, 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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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet