MCID: CRG003
MIFTS: 60

Crigler-Najjar Syndrome, Type I malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases categories

Aliases & Classifications for Crigler-Najjar Syndrome, Type I

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

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

Name: Crigler-Najjar Syndrome, Type I 45 9 10 41 30
Crigler-Najjar Syndrome 30 9 41 21 43 47
Crigler-Najjar Syndrome Type 1 41 20 47 22
Crigler Najjar Syndrome 9 20 21 22
Hereditary Unconjugated Hyperbilirubinemia 41 21 47
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 41 47
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 41 47
Hereditary Unconjugated Hyperbilirubinemia Type 1 41 47
 
Bilirubin-Ugt Deficiency Type 1 41 47
Crigler Najjar Syndrome, Type 1 41 60
Bilirubin-Ugt Deficiency 41 47
Ugt Deficiency Type 1 41 47
Ugt Deficiency 41 47
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 21
Bilirubin Udp Glucuronyl Transferase Deficiency 9


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
crigler-najjar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (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


External Ids:

OMIM45 218800
Disease Ontology9 DOID:3803
NCIt38 C84656
MeSH33 D003414
Orphanet47 205, 79234
MESH via Orphanet34 D003414, C536212
ICD10 via Orphanet26 E80.5
UMLS via Orphanet61 C0010324, C2931131
ICD1025 E80.5

Summaries for Crigler-Najjar Syndrome, Type I

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NIH Rare Diseases:41 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 gilbert syndrome and crigler-najjar syndrome, type ii, and has symptoms including abnormality of the liver, muscular hypotonia and hearing impairment. An important gene associated with Crigler-Najjar Syndrome, Type I is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1), and among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Nicotine Pathway, Pharmacokinetics. The compounds lamotrigine and 4-methylumbelliferone have been mentioned in the context of this disorder. Affiliated tissues include liver and brain.

Disease Ontology:9 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:45 218800

Related Diseases for Crigler-Najjar Syndrome, Type I

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



Diseases related to crigler-najjar syndrome, type i

Symptoms for Crigler-Najjar Syndrome, Type I

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Symptoms by clinical synopsis from OMIM:

218800

Clinical features from OMIM:

218800

Symptoms:

 47 (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, Type I:

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

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type I

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Drug clinical trials:

Search ClinicalTrials for Crigler-Najjar Syndrome, Type I

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.

Genetic Tests for Crigler-Najjar Syndrome, Type I

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

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, Type I

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

31
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 TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Crigler-Najjar Syndrome, Type I or affiliated genes

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Publications for Crigler-Najjar Syndrome, Type I

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Articles related to Crigler-Najjar Syndrome, Type I:

(show all 41)
idTitleAuthorsYear
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 unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene. (24793765)
2014
3
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. (24341141)
2013
4
Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature. (24217087)
2013
5
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. (22094718)
2012
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
Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. (19217809)
2009
9
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I. (18376249)
2008
10
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. (18567072)
2008
11
Identification of the deletions in the UGT1A1 gene of the patients with Crigler-Najjar syndrome type I from Slovakia. (18281749)
2007
12
A case of Crigler-Najjar syndrome type I: long survival with bilirubin adsorption and liver transplantation]. (16026101)
2005
13
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
14
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
15
Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I. (14722376)
2003
16
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
17
Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP). (12378576)
2002
18
Management of Crigler-Najjar Syndrome type I. (11426237)
2001
19
Auxiliary partial orthotopic liver transplantation for Crigler-Najjar syndrome type I. (10203091)
1999
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
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. (9580649)
1998
22
Neurologic perspectives of Crigler-Najjar syndrome type I. (9660509)
1998
23
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. (9039987)
1997
24
A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I. (9413009)
1997
25
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
26
Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I. (8938045)
1996
27
Glucuronidation of diflunisal, (-)-morphine, 4-nitrophenol, and propofol in liver microsomes of two patients with Crigler-Najjar syndrome type I. (8743402)
1996
28
Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. (8527799)
1995
29
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
30
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. (7989045)
1994
31
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
32
Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis. (8102509)
1993
33
Crigler-Najjar syndrome type I: management with phototherapy crib mattress. (8259886)
1993
34
Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I]. (8096554)
1993
35
Mechanisms of inherited deficiencies of multiple UDP- glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. (1634050)
1992
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
Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. (2108190)
1990
38
Multiple plasma exchanges successfully maintain a young adult patient with Crigler-Najjar syndrome type I. (2777735)
1989
39
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. (3306242)
1987
40
Crigler-Najjar syndrome type I: treatment by home phototherapy followed by orthotopic hepatic transplantation. (3546653)
1987
41
Clinical conference. Crigler-Najjar syndrome (type I) in an adult male. (422012)
1979

Variations for Crigler-Najjar Syndrome, Type I

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

62 (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, Type I:

6
id Gene Variation 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, Type I

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

Pathways for genes affiliated with Crigler-Najjar Syndrome, Type I

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4UGT1A1, UGT1A9
2
Show member pathways
Nicotine metabolism36
9.3UGT1A9, UGT1A4
3
Show member pathways
AhR pathway36
9.2UGT1A6, UGT1A1
48.6UGT1A9, UGT1A6, UGT1A1
58.5UGT1A6, UGT1A9, UGT1A4
6
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
8.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
7
Show member pathways
8.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
8
Show member pathways
8.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
9
Show member pathways
8.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
10
Show member pathways
8.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
11
Show member pathways
8.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
12
Show member pathways
8.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
138.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
14
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
8.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
15
Show member pathways
8.1UGT1A4, UGT1A9, UGT1A6, UGT1A1

Compounds for genes affiliated with Crigler-Najjar Syndrome, Type I

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB, 28IUPHAR, 2BitterDB
See all sources

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

(show top 50)    (show all 169)
idCompoundScoreTop Affiliating Genes
1lamotrigine43 49 1210.6UGT1A, UGT1A4, UGT1A6, UGT1A1
24-methylumbelliferone438.5UGT1A1, UGT1A6, UGT1A9, UGT1A
31-naphthol438.5UGT1A1, UGT1A6, UGT1A9, UGT1A
4ethyl glucuronide43 249.5UGT1A9, UGT1A6, UGT1A1, UGT1A4
5eltrombopag49 129.4UGT1A4, UGT1A9, UGT1A6, UGT1A1
6Glycochenodeoxycholic acid 3-glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
7Etiocholanolone glucuronide248.4UGT1A4, UGT1A9, UGT1A6, UGT1A1
8Inodxyl glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
9Isovalerylglucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
10Estrone glucuronide248.4UGT1A4, UGT1A9, UGT1A6, UGT1A1
11Cortolone-3-glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
12Estriol-17-glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
13Estriol-3-glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
14trans-3-Hydroxycotinine glucuronide248.4UGT1A9, UGT1A4, UGT1A6, UGT1A1
15Triiodothyronine glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
16Tyramine glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
17Valproic acid glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
18Testosterone glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
19Tetrahydroaldosterone-3-glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
20Thyroxine glucuronide248.4UGT1A1, UGT1A6, UGT1A9, UGT1A4
21bilirubin diglucuronide43 249.3UGT1A1, UGT1A6, UGT1A9, UGT1A4
2217-hydroxyandrostane-3-glucuronide248.3UGT1A1, UGT1A6, UGT1A9, UGT1A4
232-Methoxy-estradiol-17b 3-glucuronide248.3UGT1A1, UGT1A6, UGT1A9, UGT1A4
242-Methoxyestrone 3-glucuronide248.3UGT1A1, UGT1A6, UGT1A9, UGT1A4
252-Phenylethanol glucuronide248.3UGT1A1, UGT1A6, UGT1A9, UGT1A4
2617-beta-estradiol-3-glucuronide248.3UGT1A4, UGT1A9, UGT1A1, UGT1A6
27(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)248.3UGT1A1, UGT1A6, UGT1A9, UGT1A4
2817-beta-estradiol glucuronide248.2UGT1A1, UGT1A6, UGT1A9, UGT1A4
29Bilirubin glucuronide248.2UGT1A9, UGT1A4, UGT1A6, UGT1A1
30Cholestane-3,7,12,25-tetrol-3-glucuronide248.2UGT1A1, UGT1A6, UGT1A9, UGT1A4
31Cholesterol glucuronide248.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
32Cholic acid glucuronide248.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
33Benzoyl glucuronide (Benzoic acid)248.1UGT1A1, UGT1A6, UGT1A9, UGT1A4
34glucuronide438.0UGT1A9, UGT1A4, UGT1A, UGT1A6, UGT1A1
35n-hydroxy phip438.0UGT1A1, UGT1A9, UGT1A4, UGT1A, UGT1A6
36benzidine438.0UGT1A1, UGT1A6, UGT1A9, UGT1A, UGT1A4
37cotinine43 249.0UGT1A9, UGT1A4, UGT1A, UGT1A6, UGT1A1
38p-nitrophenol43 129.0UGT1A4, UGT1A1, UGT1A6, UGT1A9, UGT1A
39uridine diphosphate438.0UGT1A4, UGT1A6, UGT1A9, UGT1A, UGT1A1
40trifluoperazine43 28 49 1211.0UGT1A6, UGT1A9, UGT1A1, UGT1A, UGT1A4
41propofol43 49 1210.0UGT1A6, UGT1A4, UGT1A1, UGT1A, UGT1A9
42diclofenac43 28 49 1211.0UGT1A1, UGT1A6, UGT1A9, UGT1A, UGT1A4
43imipramine43 28 49 24 1212.0UGT1A1, UGT1A4, UGT1A, UGT1A9, UGT1A6
4425-Hydroxyvitamin D2 25-(beta-glucuronide)248.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
45uridine43 24 1210.0UGT1A1, UGT1A6, UGT1A9, UGT1A, UGT1A4
46acetaminophen43 2 49 24 1211.9UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
47estrone43 28 24 1210.9UGT1A1, UGT1A9, UGT1A, UGT1A6, UGT1A4
48valproic acid43 49 24 1210.9UGT1A4, UGT1A, UGT1A9, UGT1A6, UGT1A1
49morphine43 49 28 1210.9UGT1A9, UGT1A6, UGT1A4, UGT1A1, UGT1A
506-Hydroxy-5-methoxyindole glucuronide247.8UGT1A1, UGT1A6, UGT1A9, UGT1A4

GO Terms for genes affiliated with Crigler-Najjar Syndrome, Type I

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.1UGT1A1, UGT1A6, UGT1A9, UGT1A4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cellular glucuronidationGO:020010309.6UGT1A1, UGT1A9
2xenobiotic glucuronidationGO:00526979.5UGT1A9, UGT1A1
3flavonoid glucuronidationGO:00526969.5UGT1A9, UGT1A1
4flavone metabolic processGO:00515529.5UGT1A1, UGT1A9
5retinoic acid metabolic processGO:00425739.4UGT1A1, UGT1A9
6negative regulation of catalytic activityGO:00430869.4UGT1A1, UGT1A9
7drug metabolic processGO:00171449.3UGT1A9, UGT1A1
8cellular glucuronidationGO:00526958.9UGT1A1, UGT1A6, UGT1A4
9xenobiotic metabolic processGO:00068058.3UGT1A4, UGT1A9, UGT1A6, UGT1A1
10small molecule metabolic processGO:00442817.8UGT1A1, UGT1A6, UGT1A9, UGT1A4

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

idNameGO IDScoreTop Affiliating Genes
1enzyme inhibitor activityGO:00048579.4UGT1A1, UGT1A9
2retinoic acid bindingGO:00019728.2UGT1A1, UGT1A6, UGT1A9, UGT1A4
3glucuronosyltransferase activityGO:00150208.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
4enzyme bindingGO:00198998.1UGT1A4, UGT1A9, UGT1A6, UGT1A1
5protein heterodimerization activityGO:00469828.0UGT1A1, UGT1A6, UGT1A9, UGT1A4
6protein homodimerization activityGO:00428037.8UGT1A4, UGT1A9, UGT1A6, UGT1A1

Products for genes affiliated with Crigler-Najjar Syndrome, Type I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Crigler-Najjar Syndrome, Type I

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet