MCID: CRG004
MIFTS: 52

Crigler-Najjar Syndrome, Type Ii

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type Ii

MalaCards integrated aliases for Crigler-Najjar Syndrome, Type Ii:

Name: Crigler-Najjar Syndrome, Type Ii 57 53 29 13 55 6 40
Crigler Najjar Syndrome, Type 2 53 73
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 59
Hyperbilirubinemia, Crigler-Najjar Type Ii; Hblrcn2 57
Hereditary Unconjugated Hyperbilirubinemia Type 2 59
Hyperbilirubinemia, Crigler-Najjar Type Ii 57
Bilirubin-Ugt Deficiency Type 2 59
Crigler-Najjar Syndrome Type Ii 75
Crigler-Najjar Syndrome Type 2 59
Crigler-Najjar Syndrome 2 75
Ugt Deficiency Type 2 59
Arias Syndrome 59
Hblrcn2 57
Cn-Ii 75
Cn2 75

Characteristics:

Orphanet epidemiological data:

59
crigler-najjar syndrome type 2
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
uncommon disorder
decreased bilirubin concentration with phenobarbital administration
see also crigler-najjar syndrome type i which is also due to mutations in ugt1


HPO:

32
crigler-najjar syndrome, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 606785
Orphanet 59 ORPHA79235
UMLS via Orphanet 74 C0268311 C2931132
MESH via Orphanet 45 C536213
ICD10 via Orphanet 34 E80.5
UMLS 73 C2931132

Summaries for Crigler-Najjar Syndrome, Type Ii

NIH Rare Diseases : 53 Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL. Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.

MalaCards based summary : Crigler-Najjar Syndrome, Type Ii, also known as crigler najjar syndrome, type 2, is related to crigler-najjar syndrome, type i and kernicterus, and has symptoms including icterus An important gene associated with Crigler-Najjar Syndrome, Type Ii is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are unconjugated hyperbilirubinemia and prolonged neonatal jaundice

OMIM : 57 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994). (606785)

UniProtKB/Swiss-Prot : 75 Crigler-Najjar syndrome 2: Patients have less severe hyperbilirubinemia and usually survive into adulthood without neurologic damage. Phenobarbital, which induces the partially deficient glucuronyl transferase, can diminish the jaundice. CN2 inheritance is autosomal dominant.

Related Diseases for Crigler-Najjar Syndrome, Type Ii

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



Diseases related to Crigler-Najjar Syndrome, Type Ii

Symptoms & Phenotypes for Crigler-Najjar Syndrome, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
hyperbilirubinemia, unconjugated, <20mg/dl
normal serum liver enzymes
decreased or absent udp-glucuronyl-transferase activity


Clinical features from OMIM:

606785

Human phenotypes related to Crigler-Najjar Syndrome, Type Ii:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 unconjugated hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008282
2 prolonged neonatal jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0006579
3 neonatal hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003265
4 jaundice 32 HP:0000952

UMLS symptoms related to Crigler-Najjar Syndrome, Type Ii:


icterus

GenomeRNAi Phenotypes related to Crigler-Najjar Syndrome, Type Ii according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.77 UGT1A4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.77 UGT1A5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.77 UGT1A4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.77 UGT1A5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.77 UGT1A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.77 UGT1A3 UGT1A4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.77 UGT1A5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.77 UGT1A3 UGT1A4 UGT1A5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.77 UGT1A4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.77 UGT1A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.5 UGT1A4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.5 UGT1A3 UGT1A4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.5 UGT1A7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 UGT1A4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 UGT1A3 UGT1A7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 UGT1A7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.5 UGT1A3 UGT1A4 UGT1A7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.5 UGT1A3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.5 UGT1A7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 UGT1A7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 UGT1A7

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type Ii

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Not Applicable 51-84-3 187
2 abobotulinumtoxinA Not Applicable
3 Botulinum Toxins Not Applicable
4 Botulinum Toxins, Type A Not Applicable
5 Cholinergic Agents Not Applicable
6 Neuromuscular Agents Not Applicable
7 Neurotransmitter Agents Not Applicable
8 onabotulinumtoxinA Not Applicable
9 Peripheral Nervous System Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707 Not Applicable
2 Gastrointestinal Biopsychosocial Research Center Completed NCT00947180 Not Applicable
3 A Study Examining the Use of Vaginal Nifedipine With Pelvic Floor Physical Therapy for Levator Myalgia and Pelvic Pain Withdrawn NCT01586286 Not Applicable Nifedipine;Placebo Ointment Base

Search NIH Clinical Center for Crigler-Najjar Syndrome, Type Ii

Genetic Tests for Crigler-Najjar Syndrome, Type Ii

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

# Genetic test Affiliating Genes
1 Crigler-Najjar Syndrome, Type Ii 29 UGT1A1

Anatomical Context for Crigler-Najjar Syndrome, Type Ii

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

41
Skin, Brain, Eye, Liver

Publications for Crigler-Najjar Syndrome, Type Ii

Articles related to Crigler-Najjar Syndrome, Type Ii:

(show all 35)
# Title Authors Year
1
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095 )
2017
2
Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. ( 26968162 )
2016
3
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. ( 27264814 )
2016
4
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. ( 25993113 )
2015
5
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
6
Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis. ( 25319636 )
2014
7
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. ( 24401909 )
2014
8
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. ( 24749086 )
2014
9
Role of a homozygous A(TA)a88TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate. ( 24065680 )
2013
10
Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient. ( 22633750 )
2012
11
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. ( 21319362 )
2011
12
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. ( 20843754 )
2011
13
[Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II]. ( 20672181 )
2010
14
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. ( 19752526 )
2009
15
Pregnancy with Crigler-Najjar syndrome type II. ( 19358036 )
2009
16
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. ( 18419642 )
2008
17
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. ( 17454871 )
2007
18
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II. ( 16830281 )
2006
19
Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. ( 16456422 )
2006
20
Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. ( 16211719 )
2005
21
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. ( 11983459 )
2002
22
Kernicterus in a child with Crigler-Najjar Syndrome Type II. ( 12170921 )
2002
23
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. ( 11330728 )
2001
24
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. ( 11668224 )
2001
25
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. ( 11182932 )
2000
26
Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II. ( 10364060 )
1999
27
Analysis of bilirubin uridine 5'-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler- Najjar syndrome type II. ( 9621515 )
1998
28
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
29
Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. ( 8733132 )
1996
30
Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance. ( 7821116 )
1995
31
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. ( 8514037 )
1993
32
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. ( 8280139 )
1993
33
Crigler-Najjar syndrome type II with kernicterus. ( 3443510 )
1987
34
Effect of phenobarbital on serum and biliary parameters in a patient with Crigler-Najjar syndrome, type II and acquired cholestasis. ( 6872808 )
1983
35
Bilirubin secretion and conjujation in the Crigler-Najjar syndrome type II. ( 1261771 )
1976

Variations for Crigler-Najjar Syndrome, Type Ii

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

75 (show all 29)
# Symbol AA change Variation ID SNP ID
1 UGT1A1 p.Arg209Trp VAR_007698 rs72551343
2 UGT1A1 p.Gln331Arg VAR_007702 rs72551348
3 UGT1A1 p.Tyr486Asp VAR_007709 rs34993780
4 UGT1A1 p.Gly71Arg VAR_009504 rs4148323
5 UGT1A1 p.Pro229Gln VAR_009505 rs35350960
6 UGT1A1 p.Leu15Arg VAR_019410 rs111033541
7 UGT1A1 p.Leu175Gln VAR_019411 rs72551341
8 UGT1A1 p.Asn400Asp VAR_019412 rs28934877
9 UGT1A1 p.Pro34Gln VAR_026134
10 UGT1A1 p.Val225Gly VAR_026137 rs35003977
11 UGT1A1 p.Ile294Thr VAR_026139 rs72551347
12 UGT1A1 p.Arg336Leu VAR_026140
13 UGT1A1 p.Arg336Trp VAR_026142 rs139607673
14 UGT1A1 p.Trp354Arg VAR_026143
15 UGT1A1 p.His376Arg VAR_026144
16 UGT1A1 p.Gly377Val VAR_026145
17 UGT1A1 p.Arg403Cys VAR_026148 rs778766461
18 UGT1A1 p.Trp461Arg VAR_026149
19 UGT1A1 p.Ala478Asp VAR_026150
20 UGT1A1 p.Ser191Phe VAR_064956
21 UGT1A1 p.Asn279Tyr VAR_064957 rs397978903
22 UGT1A1 p.Ile370Val VAR_064958 rs748989741
23 UGT1A1 p.Pro387His VAR_064959
24 UGT1A1 p.Leu443Pro VAR_064961 rs758411577
25 UGT1A1 p.Tyr230Cys VAR_071403 rs754922685
26 UGT1A1 p.Arg367Cys VAR_071404 rs55750087
27 UGT1A4 p.Gln332Arg VAR_007710 rs72551348
28 UGT1A4 p.Leu132Pro VAR_009506 rs72551337
29 UGT1A4 p.Tyr487Asp VAR_009507 rs34993780

ClinVar genetic disease variations for Crigler-Najjar Syndrome, Type Ii:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) indel Pathogenic rs587776761 GRCh37 Chromosome 2, 234675692: 234675705
2 UGT1A1 NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) indel Pathogenic rs587776761 GRCh38 Chromosome 2, 233767046: 233767059
3 UGT1A1 NM_000463.2(UGT1A1): c.992A> G (p.Gln331Arg) single nucleotide variant Pathogenic rs72551348 GRCh37 Chromosome 2, 234675807: 234675807
4 UGT1A1 NM_000463.2(UGT1A1): c.992A> G (p.Gln331Arg) single nucleotide variant Pathogenic rs72551348 GRCh38 Chromosome 2, 233767161: 233767161
5 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
6 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh38 Chromosome 2, 233772413: 233772413
7 UGT1A1 UGT1A1, 1-BP DEL, 1223A deletion Pathogenic
8 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh37 Chromosome 2, 234676979: 234676979
9 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh38 Chromosome 2, 233768333: 233768333
10 UGT1A1 NM_000463.2(UGT1A1): c.44T> G (p.Leu15Arg) single nucleotide variant Pathogenic rs111033541 GRCh37 Chromosome 2, 234668977: 234668977
11 UGT1A1 NM_000463.2(UGT1A1): c.44T> G (p.Leu15Arg) single nucleotide variant Pathogenic rs111033541 GRCh38 Chromosome 2, 233760331: 233760331
12 UGT1A1 NM_000463.2(UGT1A1): c.722_723delAG (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh38 Chromosome 2, 233761009: 233761010
13 UGT1A1 NM_000463.2(UGT1A1): c.722_723delAG (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh37 Chromosome 2, 234669655: 234669656
14 UGT1A1 NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs72551350 GRCh37 Chromosome 2, 234676567: 234676567
15 UGT1A1 NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs72551350 GRCh38 Chromosome 2, 233767921: 233767921
16 UGT1A1 NM_000463.2(UGT1A1): c.222C> A (p.Tyr74Ter) single nucleotide variant Pathogenic rs72551340 GRCh38 Chromosome 2, 233760509: 233760509
17 UGT1A1 NM_000463.2(UGT1A1): c.222C> A (p.Tyr74Ter) single nucleotide variant Pathogenic rs72551340 GRCh37 Chromosome 2, 234669155: 234669155

Expression for Crigler-Najjar Syndrome, Type Ii

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

Pathways for Crigler-Najjar Syndrome, Type Ii

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2
Show member pathways
13.17 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3
Show member pathways
12.82 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 12.51 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
5 12.16 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
6
Show member pathways
12.16 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
7
Show member pathways
11.85 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8
8
Show member pathways
11.68 UGT1A1 UGT1A3 UGT1A9
9
Show member pathways
11.65 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A7 UGT1A8
10 11.62 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
11
Show member pathways
11.59 UGT1A1 UGT1A4 UGT1A6 UGT1A9
12
Show member pathways
11.5 UGT1A3 UGT1A4
13
Show member pathways
11.44 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
14
Show member pathways
11.42 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
15 11.4 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
16
Show member pathways
11.17 UGT1A1 UGT1A8
17 11.06 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
18
Show member pathways
10.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
19
Show member pathways
10.96 UGT1A1 UGT1A9
20 10.87 UGT1A3 UGT1A4 UGT1A9
21
Show member pathways
10.78 UGT1A4 UGT1A9

GO Terms for Crigler-Najjar Syndrome, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2 endoplasmic reticulum GO:0005783 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 endoplasmic reticulum membrane GO:0005789 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 intracellular membrane-bounded organelle GO:0043231 9.28 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2 xenobiotic glucuronidation GO:0052697 9.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3 retinoic acid metabolic process GO:0042573 9.77 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
4 flavone metabolic process GO:0051552 9.65 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
5 negative regulation of catalytic activity GO:0043086 9.63 UGT1A1 UGT1A7 UGT1A8
6 flavonoid glucuronidation GO:0052696 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
7 drug metabolic process GO:0017144 9.51 UGT1A1 UGT1A7
8 heme catabolic process GO:0042167 9.49 UGT1A1 UGT1A4
9 coumarin metabolic process GO:0009804 9.48 UGT1A7 UGT1A8
10 negative regulation of steroid metabolic process GO:0045939 9.43 UGT1A1 UGT1A8
11 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
12 cellular glucuronidation GO:0052695 9.17 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 transferase activity, transferring glycosyl groups GO:0016757 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3 glucuronosyltransferase activity GO:0015020 9.91 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 transferase activity, transferring hexosyl groups GO:0016758 9.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
5 enzyme inhibitor activity GO:0004857 9.63 UGT1A1 UGT1A7 UGT1A8
6 UDP-glycosyltransferase activity GO:0008194 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
7 protein kinase C binding GO:0005080 9.49 UGT1A10 UGT1A7
8 steroid binding GO:0005496 9.48 UGT1A1 UGT1A8
9 retinoic acid binding GO:0001972 9.23 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
10 transferase activity GO:0016740 10.09 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
11 protein homodimerization activity GO:0042803 10.01 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

Sources for Crigler-Najjar Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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