CN2
MCID: CRG004
MIFTS: 53

Crigler-Najjar Syndrome, Type Ii (CN2)

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type Ii

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

Name: Crigler-Najjar Syndrome, Type Ii 58 54 30 13 56 6 41
Crigler-Najjar Syndrome Type 2 54 60
Arias Syndrome 54 60
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 60
Hyperbilirubinemia, Crigler-Najjar Type Ii; Hblrcn2 58
Hereditary Unconjugated Hyperbilirubinemia Type 2 60
Hyperbilirubinemia, Crigler-Najjar Type Ii 58
Bilirubin-Ugt Deficiency Type 2 60
Crigler-Najjar Syndrome Type Ii 76
Crigler Najjar Syndrome, Type 2 74
Crigler Najjar Syndrome Type 2 54
Crigler-Najjar Syndrome 2 76
Ugt Deficiency Type 2 60
Hblrcn2 58
Cn-Ii 76
Cn2 76

Characteristics:

Orphanet epidemiological data:

60
crigler-najjar syndrome type 2
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
crigler-najjar syndrome, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 606785
MESH via Orphanet 46 C536213
ICD10 via Orphanet 35 E80.5
UMLS via Orphanet 75 C0268311 C2931132
Orphanet 60 ORPHA79235
UMLS 74 C2931132

Summaries for Crigler-Najjar Syndrome, Type Ii

NIH Rare Diseases : 54 Crigler-Najjar syndrome type 2 (CN-2) is a rare disorder that causes elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin normally is made by the body when old red blood cells are broken down. However, people with CN-2 develop hyperbilirubinemia even when red blood cells are not excessively broken down, because they have too little of a liver enzyme needed for conversion and excretion of bilirubin. The main symptom of CN-2 is persistent jaundice, which is yellowing of the skin, mucous membranes and whites of the eyes. Jaundice may become noticeable in infancy (particularly when an infant is sick or has not eaten for an extended time), but some people with CN-2 are not diagnosed until adulthood. Rarely, a person with CN-2 may develop bilirubin encephalopathy (also called kernicterus), especially during illness, prolonged fasting, or while under anesthesia. CN-2 is caused by mutations in the UGT1A1 gene and inheritance is autosomal recessive. CN-2 responds to treatment with phenobarbital; however during an episode of severe hyperbilirubinemia, phototherapy may be needed. Not all people with CN-2 require treatment, but routine monitoring is still recommended. Of note, mutations in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome type 1 (CN-1) and Gilbert syndrome. CN-1 is characterized by near or complete absence of enzyme activity (versus partial absence in type 2) and severe, life-threatening symptoms. Phenobarbitol treatment is ineffective for people with CN-1, which is treated differently. Gilbert syndrome is considered a mild liver disorder that often does not cause symptoms or causes mild jaundice. Sometimes it can be hard to distinguish between Gilbert syndrome and CN-2 because of considerable overlap in measured bilirubin levels. Genetic testing to identify the specific mutation present is sometimes needed for the correct diagnosis.

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 gilbert syndrome, 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 Mineral oil have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, and related phenotypes are unconjugated hyperbilirubinemia and prolonged neonatal jaundice

OMIM : 58 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 : 76 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

Diseases in the Crigler-Najjar Syndrome, Type I family:

Crigler-Najjar Syndrome, Type Ii

Diseases related to Crigler-Najjar Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type i 31.1 UGT1A UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 gilbert syndrome 31.0 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 kernicterus 30.5 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 bilirubin metabolic disorder 29.9 UGT1A UGT1A1 UGT1A6 UGT1A7
5 optic nerve disease 11.2
6 frasier syndrome 10.3
7 hereditary spherocytosis 10.3
8 cholestasis 10.3
9 acute cholangitis 10.3
10 cholangitis 10.3
11 descending colon cancer 10.2 UGT1A1 UGT1A6
12 pigmentation disease 10.2 UGT1A1 UGT1A6
13 dihydropyrimidine dehydrogenase deficiency 10.2 UGT1A1 UGT1A6
14 neuroblastoma 10.1
15 cholelithiasis 10.1 UGT1A1 UGT1A6
16 sickle cell anemia 10.0 UGT1A1 UGT1A6
17 brain stem glioma 10.0 UGT1A UGT1A1
18 inherited metabolic disorder 9.9 UGT1A1 UGT1A6
19 small cell cancer of the lung 9.9
20 lung cancer 9.9
21 irinotecan toxicity 9.8 UGT1A UGT1A1 UGT1A7
22 myelodysplastic syndrome 9.8
23 withdrawal disorder 9.8
24 astrocytoma 9.8
25 acetaminophen metabolism 9.6 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A9
26 pericholangitis 9.3 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A8
27 leber congenital amaurosis 4 9.0 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
28 bilirubin, serum level of, quantitative trait locus 1 8.5 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6

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

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

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 unconjugated hyperbilirubinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008282
2 prolonged neonatal jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0006579
3 neonatal hyperbilirubinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003265
4 jaundice 33 HP:0000952

Symptoms via clinical synopsis from OMIM:

58
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

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:

27 (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 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
2
Mineral oil Approved, Vet_approved Not Applicable 8042-47-5
3
Nifedipine Approved Not Applicable 21829-25-4 4485
4
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
5 Peripheral Nervous System Agents Not Applicable
6 abobotulinumtoxinA Not Applicable
7 Botulinum Toxins Not Applicable
8 Neuromuscular Agents Not Applicable
9 Acetylcholine Release Inhibitors Not Applicable
10 Cholinergic Agents Not Applicable
11 Neurotransmitter Agents Not Applicable
12 Botulinum Toxins, Type A Not Applicable
13 Calcium, Dietary Not Applicable
14 calcium channel blockers Not Applicable
15 Hormones Not Applicable
16 Tocolytic Agents Not Applicable
17 Vasodilator 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 30 UGT1A1

Anatomical Context for Crigler-Najjar Syndrome, Type Ii

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

42
Liver, Skin, Testes, Eye

Publications for Crigler-Najjar Syndrome, Type Ii

Articles related to Crigler-Najjar Syndrome, Type Ii:

(show all 41)
# Title Authors Year
1
Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth. ( 30266131 )
2018
2
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095 )
2017
3
Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults. ( 28892962 )
2017
4
Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. ( 26968162 )
2016
5
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. ( 27264814 )
2016
6
Reduction of hyperbilirubinemia with hypericum extract (St. John's Wort) in a patient with Crigler-Najjar syndrome type II. ( 26692114 )
2016
7
Management of pregnancy in Crigler Najjar syndrome type 2. ( 27099654 )
2016
8
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. ( 25993113 )
2015
9
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
10
Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2. ( 25966095 )
2015
11
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
12
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. ( 24401909 )
2014
13
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. ( 24749086 )
2014
14
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
15
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
16
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. ( 21319362 )
2011
17
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. ( 20843754 )
2011
18
Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review. ( 25755387 )
2011
19
[Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II]. ( 20672181 )
2010
20
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. ( 19752526 )
2009
21
Pregnancy with Crigler-Najjar syndrome type II. ( 19358036 )
2009
22
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. ( 18419642 )
2008
23
Gilbert's syndrome phenotypically expressed as Crigler-Najjar syndrome type II. ( 17454871 )
2007
24
Fenofibrate treatment in two adults with Crigler-Najjar syndrome type II. ( 16830281 )
2006
25
Crigler-Najjar syndrome type II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1. ( 16456422 )
2006
26
Successful photo-and phenobarbital therapy during pregnancy in a woman with Crigler-Najjar syndrome type II. ( 16211719 )
2005
27
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. ( 11983459 )
2002
28
Kernicterus in a child with Crigler-Najjar Syndrome Type II. ( 12170921 )
2002
29
Phenobarbital following phototherapy for Crigler-Najjar syndrome type II with good fetal outcome: a case report. ( 11330728 )
2001
30
A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II. ( 11668224 )
2001
31
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. ( 11182932 )
2000
32
Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II. ( 10364060 )
1999
33
Analysis of bilirubin uridine 5'-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler- Najjar syndrome type II. ( 9621515 )
1998
34
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
35
Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. ( 8733132 )
1996
36
Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance. ( 7821116 )
1995
37
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. ( 8514037 )
1993
38
Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II. ( 8280139 )
1993
39
Crigler-Najjar syndrome type II with kernicterus. ( 3443510 )
1987
40
Effect of phenobarbital on serum and biliary parameters in a patient with Crigler-Najjar syndrome, type II and acquired cholestasis. ( 6872808 )
1983
41
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:

76 (show all 26)
# 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 rs134903776
16 UGT1A1 p.Gly377Val VAR_026145 rs128365272
17 UGT1A1 p.Arg403Cys VAR_026148 rs778766461
18 UGT1A1 p.Trp461Arg VAR_026149 rs147650032
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

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

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.992A> G (p.Gln331Arg) single nucleotide variant Pathogenic rs72551348 GRCh37 Chromosome 2, 234675807: 234675807
2 UGT1A1 NM_000463.2(UGT1A1): c.992A> G (p.Gln331Arg) single nucleotide variant Pathogenic rs72551348 GRCh38 Chromosome 2, 233767161: 233767161
3 UGT1A1 NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, other rs35350960 GRCh37 Chromosome 2, 234669619: 234669619
4 UGT1A1 NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln) single nucleotide variant Conflicting interpretations of pathogenicity, Affects, other rs35350960 GRCh38 Chromosome 2, 233760973: 233760973
5 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh37 Chromosome 2, 234668881: 234668881
6 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh38 Chromosome 2, 233760235: 233760235
7 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
8 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh38 Chromosome 2, 233772413: 233772413
9 UGT1A1 UGT1A1, 1-BP DEL, 1223A deletion Pathogenic
10 UGT1A1 NM_000463.2(UGT1A1): c.524T> A (p.Leu175Gln) single nucleotide variant other rs72551341 GRCh37 Chromosome 2, 234669457: 234669457
11 UGT1A1 NM_000463.2(UGT1A1): c.524T> A (p.Leu175Gln) single nucleotide variant other rs72551341 GRCh38 Chromosome 2, 233760811: 233760811
12 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh37 Chromosome 2, 234676979: 234676979
13 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh38 Chromosome 2, 233768333: 233768333
14 UGT1A1 NM_000463.2(UGT1A1): c.44T> G (p.Leu15Arg) single nucleotide variant Pathogenic rs111033541 GRCh37 Chromosome 2, 234668977: 234668977
15 UGT1A1 NM_000463.2(UGT1A1): c.44T> G (p.Leu15Arg) single nucleotide variant Pathogenic rs111033541 GRCh38 Chromosome 2, 233760331: 233760331
16 UGT1A1 NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs72551350 GRCh37 Chromosome 2, 234676567: 234676567
17 UGT1A1 NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs72551350 GRCh38 Chromosome 2, 233767921: 233767921
18 UGT1A1 NM_000463.2(UGT1A1): c.222C> A (p.Tyr74Ter) single nucleotide variant Pathogenic rs72551340 GRCh38 Chromosome 2, 233760509: 233760509
19 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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2
Show member pathways
13.15 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3
Show member pathways
12.84 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 12.46 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
5
Show member pathways
12.16 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
6 12.15 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
7
Show member pathways
11.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8
8
Show member pathways
11.8 UGT1A1 UGT1A3 UGT1A9
9
Show member pathways
11.64 UGT1A1 UGT1A4 UGT1A6 UGT1A9
10 11.59 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
11
Show member pathways
11.44 UGT1A3 UGT1A4
12
Show member pathways
11.43 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
13
Show member pathways
11.42 UGT1A10 UGT1A3 UGT1A4 UGT1A8
14
Show member pathways
11.41 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
15 11.38 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
16 11.06 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
17
Show member pathways
10.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
18
Show member pathways
10.96 UGT1A1 UGT1A9
19 10.87 UGT1A3 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 11)
# Name GO ID Score Top Affiliating Genes
1 flavonoid glucuronidation GO:0052696 9.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2 retinoic acid metabolic process GO:0042573 9.72 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
3 flavone metabolic process GO:0051552 9.65 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
4 negative regulation of catalytic activity GO:0043086 9.61 UGT1A1 UGT1A7 UGT1A8
5 xenobiotic glucuronidation GO:0052697 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
6 drug metabolic process GO:0017144 9.49 UGT1A1 UGT1A7
7 coumarin metabolic process GO:0009804 9.48 UGT1A7 UGT1A8
8 heme catabolic process GO:0042167 9.46 UGT1A1 UGT1A4
9 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
10 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
11 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 glucuronosyltransferase activity GO:0015020 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3 transferase activity, transferring glycosyl groups GO:0016757 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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