CN2
MCID: CRG004
MIFTS: 46

Crigler-Najjar Syndrome, Type Ii (CN2)

Categories: Genetic diseases, Liver diseases, Metabolic 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 57 20 29 13 54 6 39
Crigler-Najjar Syndrome Type 2 20 58
Arias Syndrome 20 58
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 2 58
Hyperbilirubinemia, Crigler-Najjar Type Ii; Hblrcn2 57
Hereditary Unconjugated Hyperbilirubinemia Type 2 58
Hyperbilirubinemia, Crigler-Najjar Type Ii 57
Bilirubin-Ugt Deficiency Type 2 58
Crigler-Najjar Syndrome Type Ii 72
Crigler Najjar Syndrome, Type 2 70
Crigler Najjar Syndrome Type 2 20
Crigler-Najjar Syndrome 2 72
Ugt Deficiency Type 2 58
Hblrcn2 57
Cn-Ii 72
Cn2 72

Characteristics:

Orphanet epidemiological data:

58
crigler-najjar syndrome type 2
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
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:

31
crigler-najjar syndrome, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 606785
OMIM Phenotypic Series 57 PS237450
MESH via Orphanet 45 C536213
ICD10 via Orphanet 33 E80.5
UMLS via Orphanet 71 C0268311 C2931132
Orphanet 58 ORPHA79235
UMLS 70 C2931132

Summaries for Crigler-Najjar Syndrome, Type Ii

GARD : 20 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 gilbert syndrome and crigler-najjar syndrome, type i, 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. Affiliated tissues include liver, lung and myeloid, and related phenotypes are prolonged neonatal jaundice and neonatal hyperbilirubinemia

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 48)
# Related Disease Score Top Affiliating Genes
1 gilbert syndrome 29.2 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 crigler-najjar syndrome, type i 28.6 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 bilirubin metabolic disorder 28.4 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 kernicterus 28.2 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5 bilirubin, serum level of, quantitative trait locus 1 27.6 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6 hyperbilirubinemia, transient familial neonatal 27.6 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7 hereditary spherocytosis 27.4 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
8 optic nerve disease 11.1
9 autosomal recessive disease 10.4
10 gallbladder disease 1 10.2
11 tonsillitis 10.2
12 cholestasis 10.2
13 acute cholangitis 10.2
14 cholecystitis 10.2
15 cerebral palsy 10.2
16 gastroenteritis 10.2
17 neonatal jaundice 10.2
18 cholangitis 10.2
19 hepatitis a 10.2
20 hepatitis 10.2
21 glioma susceptibility 1 10.0
22 lung cancer 10.0
23 leukemia, acute myeloid 10.0
24 malignant astrocytoma 10.0
25 epicardium cancer 10.0 UGT1A8 UGT1A1
26 hereditary lymphedema i 9.9
27 neuroblastoma 9.9
28 breast cancer 9.9
29 small cell cancer of the lung 9.9
30 lung cancer susceptibility 3 9.9
31 myelodysplastic syndrome 9.9
32 hereditary spastic paraplegia 9.9
33 adenocarcinoma 9.9
34 paraplegia 9.9
35 myeloid leukemia 9.9
36 blood group incompatibility 9.9 UGT1A8 UGT1A1
37 thiopurines, poor metabolism of, 1 9.8 UGT1A8 UGT1A6 UGT1A1
38 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.8 UGT1A8 UGT1A6 UGT1A1
39 dihydropyrimidine dehydrogenase deficiency 9.8 UGT1A8 UGT1A6 UGT1A1
40 pigmentation disease 9.8 UGT1A8 UGT1A6 UGT1A1
41 glucosephosphate dehydrogenase deficiency 9.8 UGT1A8 UGT1A6 UGT1A1
42 drug-induced hepatitis 9.8 UGT1A3 UGT1A1
43 gallbladder disease 9.7 UGT1A8 UGT1A6 UGT1A1
44 inherited metabolic disorder 9.7 UGT1A8 UGT1A6 UGT1A1
45 cholelithiasis 9.6 UGT1A8 UGT1A6 UGT1A3 UGT1A1
46 sickle cell anemia 9.5 UGT1A8 UGT1A6 UGT1A10 UGT1A1
47 acetaminophen metabolism 9.4 UGT1A9 UGT1A6 UGT1A3 UGT1A10 UGT1A1
48 pericholangitis 9.2 UGT1A7 UGT1A5 UGT1A3 UGT1A10

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:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged neonatal jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0006579
2 neonatal hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003265
3 unconjugated hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008282
4 jaundice 31 HP:0000952

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.64 UGT1A4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.64 UGT1A3 UGT1A7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.64 UGT1A7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.64 UGT1A4 UGT1A7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.64 UGT1A3 UGT1A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.64 UGT1A5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.64 UGT1A3 UGT1A4 UGT1A5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.64 UGT1A5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.64 UGT1A5

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type Ii

Search Clinical Trials , 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:

40
Liver, Lung, Myeloid, Breast

Publications for Crigler-Najjar Syndrome, Type Ii

Articles related to Crigler-Najjar Syndrome, Type Ii:

(show top 50) (show all 108)
# Title Authors PMID Year
1
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 61 57 6
9621515 1998
2
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. 57 6 61
8276413 1993
3
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. 57 6
11370628 2001
4
Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies. 57 6
805737 1975
5
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. 54 61 6
18004206 2007
6
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 6 54 61
7565971 1995
7
Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene. 54 57
16712705 2006
8
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. 6 54
12402338 2002
9
Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance. 61 57
7821116 1995
10
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 61 6
8514037 1993
11
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 6
19243019 2009
12
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 6
17496722 2007
13
Global gene expression as a function of germline genetic variation. 6
15857854 2005
14
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
15
Pharmacogenetics and drug development: the path to safer and more effective drugs. 6
15372086 2004
16
Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II. 6
14550264 2003
17
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 6
12859413 2003
18
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 6
12850492 2003
19
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
20
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 6
11061796 2000
21
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 6
11003624 2000
22
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 6
10968441 2000
23
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 6
10190918 1999
24
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6
9653159 1998
25
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 6
9446675 1998
26
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 6
9375768 1997
27
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 6
9342374 1997
28
A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II. 6
8706880 1996
29
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. 6
8528206 1995
30
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. 57
7989595 1994
31
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. 6
1692835 1990
32
Crigler-Najjar type II disease inheritance: a family study. 57
2515370 1989
33
The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase. 6
6480579 1984
34
Inheritance of type 2 Crigler-Najjar hyperbilirubinaemia. 57
4692254 1973
35
Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. 57
6054997 1967
36
Nonhemolytic unconjugated hyperbilirubinemia with hepatic glucuronyl transferase deficiency: a genetic study in four generations. 57
6082246 1967
37
DEFECTS IN HEPATIC TRANSPORT OF BILIRUBIN IN CONGENITAL HYPERBILIRUBINAEMIA: AN ANALYSIS OF PLASMA BILIRUBIN DISAPPEARANCE CURVES. 57
14220904 1964
38
Diagnostic criteria and contributors to Gilbert's syndrome. 20
29390925 2018
39
Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. 54 61
11983459 2002
40
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. 54 61
11182932 2000
41
Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II. 61 54
10364060 1999
42
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. 54 61
9630669 1998
43
Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. 61 54
8733132 1996
44
A Rare Case Report of Crigler Najjar Syndrome Type II. 61
33604208 2021
45
p.Cys223Tyr mutation causing Crigler-Najjar syndrome type II. 61
33102778 2020
46
[Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene]. 61
32536060 2020
47
Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias. 61
31145902 2019
48
[Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia]. 61
30669781 2018
49
UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation. 61
30544479 2018
50
Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth. 61
30266131 2018

Variations for Crigler-Najjar Syndrome, Type Ii

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UGT1A1 UGT1A1, 1-BP DEL, 1223A Deletion Pathogenic 12284 GRCh37:
GRCh38:
2 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) SNV Pathogenic 12270 rs72551348 GRCh37: 2:234675807-234675807
GRCh38: 2:233767161-233767161
3 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) SNV Pathogenic 12285 rs72551341 GRCh37: 2:234669457-234669457
GRCh38: 2:233760811-233760811
4 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) SNV Pathogenic 12287 rs111033541 GRCh37: 2:234668977-234668977
GRCh38: 2:233760331-233760331
5 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5912A>T SNV Pathogenic 498039 rs397978903 GRCh37: 2:234669768-234669768
GRCh38: 2:233761122-233761122
6 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6061C>A SNV Pathogenic 12274 rs35350960 GRCh37: 2:234669619-234669619
GRCh38: 2:233760973-233760973
7 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) SNV Pathogenic 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
8 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) SNV Pathogenic 12286 rs28934877 GRCh37: 2:234676979-234676979
GRCh38: 2:233768333-233768333
9 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Pathogenic 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
10 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) SNV Likely pathogenic 212543 rs34946978 GRCh37: 2:234676872-234676872
GRCh38: 2:233768226-233768226
11 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*6 SNV Likely pathogenic 12280 rs4148323 GRCh37: 2:234669144-234669144
GRCh38: 2:233760498-233760498
12 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) SNV Likely pathogenic 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
13 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1204C>T (p.Arg402Cys) SNV Uncertain significance 498359 rs778766461 GRCh37: 2:234676988-234676988
GRCh38: 2:233768342-233768342
14 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1321C>T (p.Arg441Cys) SNV Uncertain significance 286999 rs143033456 GRCh37: 2:234680927-234680927
GRCh38: 2:233772281-233772281
15 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Benign 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234

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

72 (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 rs155941481
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

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 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2
Show member pathways
13.19 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3
Show member pathways
12.87 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 12.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5 12.17 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
6
Show member pathways
12.17 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7
Show member pathways
11.87 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
8
Show member pathways
11.85 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9
Show member pathways
11.84 UGT1A9 UGT1A3 UGT1A1
10
Show member pathways
11.83 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
11
Show member pathways
11.78 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
12
Show member pathways
11.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
13
Show member pathways
11.71 UGT1A9 UGT1A8 UGT1A3 UGT1A10 UGT1A1
14
Show member pathways
11.67 UGT1A9 UGT1A6 UGT1A4 UGT1A1
15 11.65 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
16
Show member pathways
11.47 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
17
Show member pathways
11.45 UGT1A8 UGT1A4 UGT1A3 UGT1A10
18 11.41 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1
19
Show member pathways
11.3 UGT1A9 UGT1A7 UGT1A1
20 11.23 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
21 10.93 UGT1A9 UGT1A4 UGT1A3
22 10.79 UGT1A4 UGT1A3
23
Show member pathways
10.65 UGT1A3 UGT1A1
24 10.55 UGT1A9 UGT1A10

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 membrane GO:0016020 9.91 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 integral component of membrane GO:0016021 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 endoplasmic reticulum GO:0005783 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 endoplasmic reticulum membrane GO:0005789 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular glucuronidation GO:0052695 9.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
2 retinoic acid metabolic process GO:0042573 9.72 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
3 negative regulation of catalytic activity GO:0043086 9.71 UGT1A8 UGT1A7 UGT1A1
4 negative regulation of fatty acid metabolic process GO:0045922 9.67 UGT1A8 UGT1A4 UGT1A10 UGT1A1
5 estrogen metabolic process GO:0008210 9.65 UGT1A7 UGT1A3 UGT1A1
6 flavone metabolic process GO:0051552 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A10 UGT1A1
7 drug metabolic process GO:0017144 9.63 UGT1A8 UGT1A7 UGT1A1
8 negative regulation of cellular glucuronidation GO:2001030 9.61 UGT1A4 UGT1A10 UGT1A1
9 xenobiotic glucuronidation GO:0052697 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10 negative regulation of glucuronosyltransferase activity GO:1904224 9.58 UGT1A4 UGT1A10 UGT1A1
11 heme catabolic process GO:0042167 9.56 UGT1A4 UGT1A1
12 coumarin metabolic process GO:0009804 9.55 UGT1A8 UGT1A7
13 vitamin D3 metabolic process GO:0070640 9.52 UGT1A4 UGT1A3
14 negative regulation of steroid metabolic process GO:0045939 9.51 UGT1A8 UGT1A1
15 bilirubin conjugation GO:0006789 9.49 UGT1A4 UGT1A1
16 flavonoid glucuronidation GO:0052696 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.09 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 protein homodimerization activity GO:0042803 10.01 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 enzyme binding GO:0019899 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 protein heterodimerization activity GO:0046982 9.92 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
5 retinoic acid binding GO:0001972 9.86 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
6 transferase activity, transferring glycosyl groups GO:0016757 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
8 glucuronosyltransferase activity GO:0015020 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 protein kinase C binding GO:0005080 9.51 UGT1A7 UGT1A10
10 drug binding GO:0008144 9.49 UGT1A8 UGT1A7
11 steroid binding GO:0005496 9.48 UGT1A8 UGT1A1
12 UDP-glycosyltransferase activity GO:0008194 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Sources for Crigler-Najjar Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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