MCID: CRG003
MIFTS: 57

Crigler-Najjar Syndrome, Type I malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Crigler-Najjar Syndrome, Type I

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 12diseasecard, 33LifeMap Discovery®, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 25GTR, 66UMLS, 68UniProtKB/Swiss-Prot, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Crigler-Najjar Syndrome, Type I 50 11 46 23 12 33
Crigler-Najjar Syndrome 33 11 23 24 13 52 48 37
Crigler Najjar Syndrome 11 24 25
Hereditary Unconjugated Hyperbilirubinemia 24 52
Crigler Najjar Syndrome, Type 1 46 66
Crigler-Najjar Syndrome Type I 68 25
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 52
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 52
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 24
Hereditary Unconjugated Hyperbilirubinemia Type 1 52
 
Bilirubin Udp Glucuronyl Transferase Deficiency 11
Bilirubin-Ugt Deficiency Type 1 52
Crigler-Najjar Syndrome Type 1 52
Crigler-Najjar Syndrome 1 68
Bilirubin-Ugt Deficiency 52
Ugt Deficiency Type 1 52
Ugt Deficiency 52
Cn-I 68
Cn1 68

Characteristics:

Orphanet epidemiological data:

52
crigler-najjar syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy
bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
crigler-najjar syndrome, type i:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 218800
Disease Ontology11 DOID:3803
ICD1028 E80.5
MeSH37 D003414
NCIt43 C84656
ICD10 via Orphanet29 E80.5
MESH via Orphanet38 D003414, C536212
UMLS via Orphanet67 C0010324, C2931131
MedGen35 C0010324

Summaries for Crigler-Najjar Syndrome, Type I

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NIH Rare Diseases:46 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 crigler-najjar syndrome, type ii and gilbert syndrome, 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 Family 1 Member A1), and among its related pathways are AhR pathway (WikiPathways) and Statin Pathway - Generalized, Pharmacokinetics. Affiliated tissues include liver and brain.

Disease Ontology:11 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:24 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).

UniProtKB/Swiss-Prot:68 Crigler-Najjar syndrome 1: Patients have severe hyperbilirubinemia and usually die of kernicterus (bilirubin accumulation in the basal ganglia and brainstem nuclei) within the first year of life. CN1 inheritance is autosomal recessive.

Wikipedia:69 Crigler–Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a... more...

Description from OMIM:50 218800

Related Diseases for Crigler-Najjar Syndrome, Type I

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Graphical network of 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:

 52 (show all 21)
  • hearing impairment
  • ophthalmoparesis
  • jaundice
  • seizures
  • muscular hypotonia
  • lethargy
  • abnormality of the liver
  • vertigo
  • memory impairment
  • encephalitis
  • cognitive impairment
  • delayed speech and language development
  • biliary tract abnormality
  • intellectual disability
  • tremor
  • kernicterus
  • neonatal hyperbilirubinemia
  • prolonged neonatal jaundice
  • unconjugated hyperbilirubinemia
  • infantile muscular hypotonia
  • oculomotor nerve palsy

HPO human phenotypes related to Crigler-Najjar Syndrome, Type I:

(show all 13)
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 memory impairment occasional (7.5%) HP:0002354
7 vertigo occasional (7.5%) HP:0002321
8 encephalitis occasional (7.5%) HP:0002383
9 reduced consciousness/confusion occasional (7.5%) HP:0004372
10 jaundice HP:0000952
11 encephalopathy HP:0001298
12 kernicterus HP:0001343
13 unconjugated hyperbilirubinemia HP:0008282

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type I

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Drugs for Crigler-Najjar Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ornithineNutraceuticalPhase 16770-26-86262
Synonyms:
(+)-S-Ornithine
(S)-2,5-Diaminopentanoate
(S)-2,5-Diaminopentanoic acid
(S)-2,5-diaminovaleric acid
(S)-Ornithine
(S)-a,D-Diaminovalerate
 
(S)-a,D-Diaminovaleric acid
(S)-alpha,delta-Diaminovaleric acid
(S)-ornithine
(S)-α,δ-diaminovaleric acid
5-Amino-L-Norvaline
L-(-)-Ornithine
L-Ornithine
2
Orlistat5296829-58-23034010
Synonyms:
(-)-Tetrahydrolipstatin
1-((3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl-2-formamido-4-methylvalerate
111397-16-1
96829-58-2
AC-19012
AC1MHWQP
Alli
Alli, Xenical, Tetrahydrolipstatin, Orlistat
BIDD:GT0853
C055122
C29H53NO5
CHEMBL175247
CID3034010
CPD000466339
D04028
DB01083
FT-0082584
GlaxoSmithKline brand of orlistat
HMS2051I08
Hoffmann-La Roche brand of orlistat
KS-1183
L-Leucine, N-formyl-, (1S)-1-(((2S,3S)-3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl ester
L-Leucine,N-formyl-, (1S)-1-(((2S,3S)-3-hexyl-4-oxo-2-oxetanyl)methyl)dodecyl ester
LS-178328
MLS000759448
MLS001423955
 
MLS002207022
MolPort-005-938-035
N-Formyl-L-leucine (1S)-1-[[(2S,3S)-3-hexyl-4-oxo-2-oxetanyl]methyl]dodecyl ester
N-Formyl-L-leucine, ester with (3S,4S)-3-hexyl-4-((2S)-2-hydroxytridecyl)-2-oxetanone
NCGC00165856-01
O4139_SIGMA
Orlipastat
Orlipastatum
Orlipastatum [INN-Latin]
Orlistat (USAN/INN)
Orlistat [USAN:INN]
R-212
Ro 18-0647/002
Ro 18-0647/008
Ro-18-0647
Roche brand of orlistat
S1629_Selleck
SAM001246637
SMR000466339
THLP
Tetrahydrolipstatin
UNII-95M8R751W8
Xenical
Xenical (TN)
[(2S)-1-[(2S,3S)-3-hexyl-4-oxooxetan-2-yl]tridecan-2-yl] (2S)-2-formamido-4-methylpentanoate
nchembio.129-comp24
orlistat
3
bilirubin107635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin
4
Acetylcholine75251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN)CompletedNCT01765283Phase 1, Phase 2
2Hepatocyte Transplantation in Liver FailureWithdrawnNCT00805610Phase 1, Phase 2
3Hepatocyte Transplantation for Liver Based Metabolic DisordersSuspendedNCT01345578Phase 1
4Orlistat Treatment of Crigler-Najjar DiseaseCompletedNCT00461799
5Immunity Against AAV in Crigler Najjar PatientRecruitingNCT02302690
6Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani SyndromeRecruitingNCT00564707
7New Phototherapy Device to Treat Patients With Crigler-Najjar DiseaseActive, not recruitingNCT02356978
8Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001)Active, not recruitingNCT02051049

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.
Stem-cell-based therapeutic approaches for Crigler-Najjar Syndrome, Type I:
Hepatocyte transplantation for treatment of liver disorders
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Promethera
Embryonic/Adult Cultured Cells Related to Crigler-Najjar Syndrome, Type I:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636
Hepatocytes
Adult liver progenitor cells, PMIDs: 22525602, 23211283, 19091822, 24142276, 22900053


Cochrane evidence based reviews: crigler-najjar syndrome

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 Syndrome25 23 UGT1A1
2 Crigler Najjar Syndrome, Type 125
3 Crigler-Najjar Syndrome, Type I23

Anatomical Context for Crigler-Najjar Syndrome, Type I

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

34
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
Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation. (22414515)
2012
7
Liver transplantation in Crigler-Najjar syndrome type I disease. (23060403)
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
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
14
Persistant unconjugated hyperbilirubinemia in an infant with crigler-najjar syndrome type I. (14722376)
2003
15
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
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
Neurologic perspectives of Crigler-Najjar syndrome type I. (9660509)
1998
22
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. (9580649)
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
Improvements in long term phototherapy for patients with Crigler-Najjar syndrome type I. (8938045)
1996
26
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
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
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
31
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. (7989045)
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 type I: treatment by home phototherapy followed by orthotopic hepatic transplantation. (3546653)
1987
40
Crigler-Najjar syndrome types I and II. Clinical experience--King's College Hospital 1972-1978. Phenobarbitone, phototherapy and liver transplantation. (3306242)
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:

68 (show all 22)
id Symbol AA change Variation ID SNP ID
1UGT1A1p.Cys177ArgVAR_007697rs72551342
2UGT1A1p.Gly276ArgVAR_007699rs72551345
3UGT1A1p.Ala292ValVAR_007700
4UGT1A1p.Gly308GluVAR_007701rs62625011
5UGT1A1p.Gln357ArgVAR_007703rs72551351
6UGT1A1p.Ala368ThrVAR_007704
7UGT1A1p.Ser375PheVAR_007705rs72551353
8UGT1A1p.Ser381ArgVAR_007706
9UGT1A1p.Ala401ProVAR_007707
10UGT1A1p.Lys428GluVAR_007708
11UGT1A1p.His39AspVAR_026135
12UGT1A1p.Glu291ValVAR_026138
13UGT1A1p.Arg336LeuVAR_026140
14UGT1A1p.Arg336GlnVAR_026141rs750453538
15UGT1A1p.His376ArgVAR_026144
16UGT1A1p.Gly377ValVAR_026145
17UGT1A1p.Pro387SerVAR_026146
18UGT1A1p.Gly395ValVAR_026147rs367897068
19UGT1A1p.Trp461ArgVAR_026149
20UGT1A1p.Lys402ThrVAR_064960
21UGT1A1p.Asp36AsnVAR_071402
22UGT1A4p.Ser376PheVAR_007711rs72551353

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8UGT1A1, UGT1A6
2
Show member pathways
9.8UGT1A1, UGT1A9
3
Show member pathways
9.8UGT1A4, UGT1A9
49.4UGT1A4, UGT1A6, UGT1A9
5
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
6
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
7
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
89.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
9
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
10
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
11
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
12
Show member pathways
9.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
13
Show member pathways
9.1NT5C1A, NT5C2
14
Show member pathways
8.6CNDP2, UGT1A1, UGT1A4, UGT1A6, UGT1A9
15
Show member pathways
6.8CNDP2, NT5C1A, NT5C2, OTC, UGT1A1, 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:00057899.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
2endoplasmic reticulumGO:00057838.2SLC35A2, UGT1A1, UGT1A4, UGT1A6, UGT1A9

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bilirubin conjugationGO:000678910.4UGT1A1, UGT1A4
2heme catabolic processGO:004216710.3UGT1A1, UGT1A4
3flavone metabolic processGO:005155210.3UGT1A1, UGT1A9
4flavonoid biosynthetic processGO:000981310.0UGT1A1, UGT1A4, UGT1A6
5xenobiotic metabolic processGO:00068059.8UGT1A6, UGT1A9
6adenosine metabolic processGO:00460859.7NT5C1A, NT5C2
7xenobiotic glucuronidationGO:00526979.6UGT1A1, UGT1A4, UGT1A6, UGT1A9
8flavonoid glucuronidationGO:00526969.6UGT1A1, UGT1A4, UGT1A6, UGT1A9
9cellular glucuronidationGO:00526959.6UGT1A1, UGT1A4, UGT1A6, UGT1A9
10dephosphorylationGO:00163119.6NT5C1A, NT5C2
11purine nucleotide catabolic processGO:00061959.6NT5C1A, NT5C2
12drug metabolic processGO:00171449.6NT5C2, UGT1A1
13retinoic acid metabolic processGO:00425739.5UGT1A1, UGT1A9

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

idNameGO IDScoreTop Affiliating Genes
15-nucleotidase activityGO:00082539.8NT5C1A, NT5C2
2glucuronosyltransferase activityGO:00150209.6UGT1A1, UGT1A4, UGT1A6, UGT1A9
3retinoic acid bindingGO:00019729.5UGT1A1, UGT1A4, UGT1A6, UGT1A9
4protein heterodimerization activityGO:00469829.1UGT1A1, UGT1A4, UGT1A6, UGT1A9
5protein homodimerization activityGO:00428038.8UGT1A1, UGT1A4, UGT1A6, UGT1A9

Sources for Crigler-Najjar Syndrome, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
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55PubMed
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65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet