CN1
MCID: CRG003
MIFTS: 64

Crigler-Najjar Syndrome, Type I (CN1)

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

Aliases & Classifications for Crigler-Najjar Syndrome, Type I

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

Name: Crigler-Najjar Syndrome, Type I 57 12 20 13 37 39
Crigler-Najjar Syndrome 57 12 73 43 58 36 29 54 6 44 15 39 32
Crigler-Najjar Syndrome Type 1 58 29 6
Hereditary Unconjugated Hyperbilirubinemia 43 58
Crigler Najjar Syndrome, Type 1 20 70
Crigler Najjar Syndrome 12 43
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 58
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 58
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 43
Hyperbilirubinemia, Crigler-Najjar Type I; Hblrcn1 57
Hereditary Unconjugated Hyperbilirubinemia Type 1 58
Bilirubin Udp Glucuronyl Transferase Deficiency 12
Hyperbilirubinemia, Crigler-Najjar Type I 57
Bilirubin-Ugt Deficiency Type 1 58
Crigler-Najjar Syndrome Type I 72
Crigler-Najjar Syndrome 1 72
Bilirubin-Ugt Deficiency 58
Ugt Deficiency Type 1 58
Ugt Deficiency 58
Hblrcn1 57
Cn-I 72
Cn1 72

Characteristics:

Orphanet epidemiological data:

58
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;
crigler-najjar syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
very rare
death in infancy secondary to kernicterus
no response to phenobarbital

Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:3803
OMIM® 57 218800
OMIM Phenotypic Series 57 PS237450
KEGG 36 H02054
MeSH 44 D003414
NCIt 50 C84656
SNOMED-CT 67 8933000
ICD10 32 E80.5
MESH via Orphanet 45 C536212 D003414
ICD10 via Orphanet 33 E80.5
UMLS via Orphanet 71 C0010324 C2931131
MedGen 41 C0010324
UMLS 70 C0010324

Summaries for Crigler-Najjar Syndrome, Type I

MedlinePlus Genetics : 43 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).Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can lead to a condition called kernicterus, which is a form of brain damage caused by the accumulation of unconjugated bilirubin in the brain and nerve tissues. Babies with kernicterus are often extremely tired (lethargic) and may have weak muscle tone (hypotonia). These babies may experience episodes of increased muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to other neurological problems, including involuntary writhing movements of the body (choreoathetosis), hearing problems, or intellectual disability.Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe. People with CN2 are less likely to develop kernicterus, and most affected individuals survive into adulthood.

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. An important gene associated with Crigler-Najjar Syndrome, Type I is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. The drugs Diazepam and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include Liver, kidney and thyroid, and related phenotypes are jaundice and prolonged neonatal jaundice

Disease Ontology : 12 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).

GARD : 20 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.

KEGG : 36 Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin. There are two forms of CN. CN-1 is characterized by almost complete absence of UGT1A1 enzyme activity. Left untreated, CN-1 almost invariably results in death from bilirubin encephalopathy (kernicterus). CN-2 is characterized by intermediate levels of hyperbilirubinemia, due to a severe, but incomplete lack of UGT1A1 activity.

UniProtKB/Swiss-Prot : 72 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 : 73 Crigler-Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical... more...

More information from OMIM: 218800 PS237450

Related Diseases for Crigler-Najjar Syndrome, Type I

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

Crigler-Najjar Syndrome, Type Ii

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 32.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 gilbert syndrome 31.5 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
3 kernicterus 31.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 inherited metabolic disorder 30.7 UGT1A8 UGT1A6 UGT1A1
5 bilirubin metabolic disorder 30.7 UGT2B4 UGT2B10 UGT2A2 UGT1A9 UGT1A8 UGT1A7
6 bilirubin, serum level of, quantitative trait locus 1 30.5 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7 hyperbilirubinemia, transient familial neonatal 30.5 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
8 hereditary spherocytosis 30.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 olfactory nerve disease 11.0
10 autosomal recessive disease 10.5
11 cholestasis 10.4
12 thiopurines, poor metabolism of, 1 10.4 UGT1A8 UGT1A6 UGT1A1
13 hemophilia 10.4
14 congenital nonhemolytic jaundice 10.4
15 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.4 UGT1A8 UGT1A6 UGT1A1
16 epicardium cancer 10.4 UGT1A8 UGT1A1
17 dihydropyrimidine dehydrogenase deficiency 10.4 UGT1A8 UGT1A6 UGT1A1
18 pigmentation disease 10.4 UGT1A8 UGT1A6 UGT1A1
19 glucosephosphate dehydrogenase deficiency 10.3 UGT1A8 UGT1A6 UGT1A1
20 urogenital tuberculosis 10.3 UGT1A SLC35A2
21 blood group incompatibility 10.3 UGT1A8 UGT1A1
22 cholelithiasis 10.3 UGT1A8 UGT1A6 UGT1A3 UGT1A1
23 pericholangitis 10.3 UGT1A7 UGT1A5 UGT1A3 UGT1A10
24 porphyria 10.3
25 acetaminophen metabolism 10.3 UGT1A9 UGT1A6 UGT1A3 UGT1A10 UGT1A1
26 sickle cell anemia 10.3 UGT1A8 UGT1A6 UGT1A10 UGT1A1
27 fibrosis of extraocular muscles, congenital, 1 10.3
28 branchiootic syndrome 1 10.3
29 neonatal jaundice 10.3
30 encephalopathy 10.3
31 tremor 10.3
32 gallbladder disease 10.3 UGT1A8 UGT1A6 UGT1A1
33 ataxia and polyneuropathy, adult-onset 10.2
34 severe combined immunodeficiency 10.2
35 spasticity 10.2
36 drug-induced hepatitis 10.2 UGT1A3 UGT1A1
37 pfeiffer syndrome 10.1
38 factor viii deficiency 10.1
39 hypercholesterolemia, familial, 1 10.1
40 otitis media 10.1
41 hemophilia a 10.1
42 ichthyosis, x-linked 10.1
43 kearns-sayre syndrome 10.1
44 gallbladder disease 1 10.1
45 beta-thalassemia 10.1
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
47 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
48 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
49 x-linked recessive disease 10.1
50 beta-thalassemia major 10.1

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



Diseases related to Crigler-Najjar Syndrome, Type I

Symptoms & Phenotypes for Crigler-Najjar Syndrome, Type I

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

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
2 prolonged neonatal jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0006579
3 biliary tract abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0001080
4 kernicterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001343
5 neonatal hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003265
6 unconjugated hyperbilirubinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008282
7 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
8 hypotonia 31 frequent (33%) HP:0001252
9 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
10 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
11 encephalitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002383
12 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
13 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
14 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
15 memory impairment 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002354
16 ophthalmoparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000597
17 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
18 oculomotor nerve palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0012246
19 seizure 31 occasional (7.5%) HP:0001250
20 seizures 58 Occasional (29-5%),Occasional (29-5%)
21 muscular hypotonia 58 Frequent (79-30%)
22 cognitive impairment 58 Occasional (29-5%)
23 abnormality of the liver 58 Very frequent (99-80%),Very frequent (99-80%)
24 encephalopathy 31 HP:0001298

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
kernicterus
bilirubin encephalopathy

Laboratory Abnormalities:
hyperbilirubinemia, unconjugated, 20-30mg/dl
absence of hepatic udp-glucuronyl-transferase
normal liver histology
normal liver function tests

Skin Nails Hair Skin:
jaundice, congenital nonhemolytic

Clinical features from OMIM®:

218800 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Crigler-Najjar Syndrome, Type I 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 9.32 UGT1A4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.32 UGT1A3 UGT1A7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.32 UGT1A7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.32 UGT1A4 UGT1A7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.32 UGT1A3 UGT1A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.32 UGT1A3 UGT1A4

Drugs & Therapeutics for Crigler-Najjar Syndrome, Type I

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
2 Neurotransmitter Agents Phase 4
3 Psychotropic Drugs Phase 4
4 Gastrointestinal Agents Phase 4
5 Hypnotics and Sedatives Phase 4
6 Anesthetics Phase 4
7 Anesthetics, General Phase 4
8 Antiemetics Phase 4
9 Anesthetics, Intravenous Phase 4
10 Anticonvulsants Phase 4
11 Anti-Anxiety Agents Phase 4
12 GABA Modulators Phase 4
13
carbamide peroxide Approved Phase 1, Phase 2 124-43-6
14 Liver Extracts Phase 1, Phase 2
15
Acetylcholine Approved, Investigational 51-84-3 187
16
Orlistat Approved, Investigational 96829-58-2 3034010
17 abobotulinumtoxinA
18 Cholinergic Agents
19 Botulinum Toxins, Type A
20 Botulinum Toxins
21 Anti-Obesity Agents
22 Lipid Regulating Agents
23
Bilirubin 635-65-4 5280352

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Rectal Versus Oral Diazepam Administration in the Treatment of Levator Ani Syndrome in Participants Who Have Not Responded to Physical Therapy Treatment: A Prospective Randomized Study Recruiting NCT04216797 Phase 4 Diazepam Tablets
2 A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Promethera HepaStem in Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Paediatric Patients. Completed NCT01765283 Phase 1, Phase 2
3 VALENS: A Phase 1/2, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Preliminary Efficacy of AT342, an AAV8-Delivered Gene Transfer Therapy in Crigler-Najjar Syndrome Subjects Aged 1 Year and Older Terminated NCT03223194 Phase 1, Phase 2
4 Trial of a New Phototherapy Device for Treating Hyperbilirubinemia in Crigler-Najjar Patients : a New Concept Unknown status NCT02356978
5 Comparison of Biofeedback Therapy and Botulinum Toxin Type A Injections for Treatment of Painful Levator Ani Syndrome in Women: A Randomized, Prospective Trial Unknown status NCT00564707
6 Study of the Prevalence of Pre-existing Immunity Against the Adeno-associated Virus (AAV) in Patients With Crigler-Najjar Syndrome Completed NCT02302690
7 Orlistat Treatment of Unconjugated Hyperbilirubinemia in Crigler-Najjar Disease; A Randomized Controlled Trial Completed NCT00461799 orlistat
8 LUSTRO: A Clinical Assessment Study in Crigler-Najjar Syndrome Completed NCT03078881
9 Long-term Safety Follow-up Study of Patients Having Received Infusions of HepaStem Completed NCT02051049
10 A Phase I/II, Open Label, Escalating Dose Study to Evaluate Safety and Efficacy of an Intravenous Injection of GNT0003 (AAV Vector Expressing the UGT1A1 Transgene) in Patients With Severe Crigler-Najjar Syndrome Requiring Phototherapy Recruiting NCT03466463
11 HepaStem Long-Term Safety Registry - Registry for Patients Who Have Been Administered HepaStem Enrolling by invitation NCT03343756

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.

Cochrane evidence based reviews: crigler-najjar syndrome

Genetic Tests for Crigler-Najjar Syndrome, Type I

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

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

Anatomical Context for Crigler-Najjar Syndrome, Type I

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

40
Liver, Kidney, Thyroid, Thymus, Skeletal Muscle, Breast, Lung
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:
# Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Affected by disease, potential therapeutic candidate

Publications for Crigler-Najjar Syndrome, Type I

Articles related to Crigler-Najjar Syndrome, Type I:

(show top 50) (show all 447)
# Title Authors PMID Year
1
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
2
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. 6 57 61
1634606 1992
3
Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies. 57 6 61
805737 1975
4
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. 6 61 54
14616765 2003
5
Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II. 6 54 61
14550264 2003
6
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 54 6 61
11061796 2000
7
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. 61 54 6
9039987 1997
8
A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. 54 6 61
7936809 1994
9
Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. 54 61 6
1634050 1992
10
Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. 61 57 54
2108190 1990
11
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. 6 61
26697581 2015
12
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. 6 61
18004206 2007
13
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. 6 61
15712364 2005
14
Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. 6 61
15586176 2005
15
Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene. 61 6
11968090 2002
16
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene. 61 6
11182932 2000
17
Neurologic perspectives of Crigler-Najjar syndrome type I. 61 57
9660509 1998
18
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation. 57 61
9580649 1998
19
Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. 6 61
9497253 1998
20
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 61 6
9621515 1998
21
A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I. 57 61
9413009 1997
22
Current therapy for Crigler-Najjar syndrome type 1: report of a world registry. 57 61
8690398 1996
23
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 6 61
7565971 1995
24
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 6 61
8514037 1993
25
Investigation of the molecular basis of the genetic deficiency of UDP-glucuronosyltransferase in Crigler-Najjar syndrome. 57 61
1749222 1991
26
Crigler-Najjar syndrome type I: treatment by home phototherapy followed by orthotopic hepatic transplantation. 57 61
3546653 1987
27
Clinical conference. Crigler-Najjar syndrome (type I) in an adult male. 61 57
422012 1979
28
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 6
19243019 2009
29
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 6
17496722 2007
30
Global gene expression as a function of germline genetic variation. 6
15857854 2005
31
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
32
Pharmacogenetics and drug development: the path to safer and more effective drugs. 6
15372086 2004
33
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 6
12859413 2003
34
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 6
12850492 2003
35
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. 6
12402338 2002
36
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
37
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. 6
11370628 2001
38
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 6
11003624 2000
39
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 6
10968441 2000
40
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 6
10190918 1999
41
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6
9653159 1998
42
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 6
9446675 1998
43
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 6
9375768 1997
44
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 6
9342374 1997
45
Induction of central tolerance by intrathymic inoculation of adenoviral antigens into the host thymus permits long-term gene therapy in Gunn rats. 57
8958229 1996
46
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
47
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. 6
8528206 1995
48
Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro. 6
7906695 1994
49
A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase. 6
8226884 1993
50
New developments in glucuronidation research: report of a workshop on "glucuronidation, its role in health and disease". 57
1531971 1992

Variations for Crigler-Najjar Syndrome, Type I

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

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 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
2 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
3 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
4 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
5 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.874_887delinsA (p.Tyr292fs) Indel Pathogenic 12266 rs587776761 GRCh37: 2:234675692-234675705
GRCh38: 2:233767046-233767059
6 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1121C>T (p.Ser374Phe) SNV Pathogenic 12267 rs72551353 GRCh37: 2:234676905-234676905
GRCh38: 2:233768259-233768259
7 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter) SNV Pathogenic 12268 rs111033539 GRCh37: 2:234675806-234675806
GRCh38: 2:233767160-233767160
8 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6234_862-6232del Microsatellite Pathogenic 12271 rs587776762 GRCh37: 2:234669441-234669443
GRCh38: 2:233760795-233760797
9 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.920G>A (p.Gly307Glu) SNV Pathogenic 12272 rs62625011 GRCh37: 2:234675738-234675738
GRCh38: 2:233767092-233767092
10 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5907C>A SNV Pathogenic 12273 rs281865418 GRCh37: 2:234669773-234669773
GRCh38: 2:233761127-233761127
11 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6273_862-6272insT Insertion Pathogenic 12276 rs587776763 GRCh37: 2:234669407-234669408
GRCh38: 2:233760761-233760762
12 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5882G>C SNV Pathogenic 12277 rs587776764 GRCh37: 2:234669798-234669798
GRCh38: 2:233761152-233761152
13 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6602C>T SNV Pathogenic 12278 rs587776765 GRCh37: 2:234669078-234669078
GRCh38: 2:233760432-233760432
14 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1082-2A>G SNV Pathogenic 12279 rs587776766 GRCh37: 2:234676864-234676864
GRCh38: 2:233768218-233768218
15 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg) SNV Pathogenic 12283 rs72551351 GRCh37: 2:234676568-234676568
GRCh38: 2:233767922-233767922
16 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6394dup Duplication Pathogenic 266037 rs748219743 GRCh37: 2:234669280-234669281
GRCh38: 2:233760634-233760635
17 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs) Duplication Pathogenic 437209 rs766536479 GRCh37: 2:234669555-234669558
GRCh38: 2:233760908-233760909
18 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6525C>A SNV Pathogenic 437210 rs72551340 GRCh37: 2:234669155-234669155
GRCh38: 2:233760509-233760509
19 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) SNV Pathogenic 12269 rs72551349 GRCh37: 2:234676519-234676519
GRCh38: 2:233767873-233767873
20 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
21 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
22 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
23 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1003C>T (p.Arg335Trp) SNV Pathogenic 437450 rs139607673 GRCh37: 2:234676504-234676504
GRCh38: 2:233767858-233767858
24 UGT1A1 UGT1A1, 1-BP DEL, 1223A Deletion Pathogenic 12284 GRCh37:
GRCh38:
25 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6073T>G SNV Pathogenic 160239 rs35003977 GRCh37: 2:234669607-234669607
GRCh38: 2:233760961-233760961
26 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
27 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) SNV Pathogenic 212543 rs34946978 GRCh37: 2:234676872-234676872
GRCh38: 2:233768226-233768226
28 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Pathogenic 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
29 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*6 SNV Pathogenic 12280 rs4148323 GRCh37: 2:234669144-234669144
GRCh38: 2:233760498-233760498
30 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
31 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
32 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6073T>G SNV Likely pathogenic 160239 rs35003977 GRCh37: 2:234669607-234669607
GRCh38: 2:233760961-233760961
33 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
34 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6138_862-6115del Deletion Likely pathogenic 437208 rs1553620849 GRCh37: 2:234669541-234669564
GRCh38: 2:233760895-233760918
35 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6122C>T SNV Likely pathogenic 437211 rs72551343 GRCh37: 2:234669558-234669558
GRCh38: 2:233760912-233760912
36 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1564C>T (p.Arg522Ter) SNV Uncertain significance 548505 rs770564267 GRCh37: 2:234681170-234681170
GRCh38: 2:233772524-233772524
37 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6270C>T SNV Uncertain significance 335081 rs199766420 GRCh37: 2:234669410-234669410
GRCh38: 2:233760764-233760764
38 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6447T>C SNV Uncertain significance 335080 rs374655757 GRCh37: 2:234669233-234669233
GRCh38: 2:233760587-233760587
39 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
40 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
41 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1119T>C (p.Gly373=) SNV Uncertain significance 197147 rs139698110 GRCh37: 2:234676903-234676903
GRCh38: 2:233768257-233768257
42 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*585G>T SNV Uncertain significance 335087 rs886055800 GRCh37: 2:234681790-234681790
GRCh38: 2:233773144-233773144
43 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6453T>C SNV Uncertain significance 335079 rs138183896 GRCh37: 2:234669227-234669227
GRCh38: 2:233760581-233760581
44 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1319T>C (p.Met440Thr) SNV Uncertain significance 335082 rs202172337 GRCh37: 2:234680925-234680925
GRCh38: 2:233772279-233772279
45 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*201G>A SNV Uncertain significance 335083 rs541532523 GRCh37: 2:234681406-234681406
GRCh38: 2:233772760-233772760
46 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*269C>T SNV Uncertain significance 897054 GRCh37: 2:234681474-234681474
GRCh38: 2:233772828-233772828
47 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*301G>A SNV Uncertain significance 897537 GRCh37: 2:234681506-234681506
GRCh38: 2:233772860-233772860
48 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) SNV Uncertain significance 897334 GRCh37: 2:234669221-234669221
GRCh38: 2:233760575-233760575
49 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5909T>G SNV Uncertain significance 595180 rs754213125 GRCh37: 2:234669771-234669771
GRCh38: 2:233761125-233761125
50 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) SNV Uncertain significance 897468 GRCh37: 2:234681121-234681121
GRCh38: 2:233772475-233772475

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

72 (show all 21)
# Symbol AA change Variation ID SNP ID
1 UGT1A1 p.Cys177Arg VAR_007697 rs72551342
2 UGT1A1 p.Gly276Arg VAR_007699 rs72551345
3 UGT1A1 p.Ala292Val VAR_007700 rs758873309
4 UGT1A1 p.Gly308Glu VAR_007701 rs62625011
5 UGT1A1 p.Gln357Arg VAR_007703 rs72551351
6 UGT1A1 p.Ala368Thr VAR_007704 rs72551352
7 UGT1A1 p.Ser375Phe VAR_007705 rs72551353
8 UGT1A1 p.Ser381Arg VAR_007706 rs72551354
9 UGT1A1 p.Ala401Pro VAR_007707 rs72551355
10 UGT1A1 p.Lys428Glu VAR_007708 rs72551356
11 UGT1A1 p.His39Asp VAR_026135 rs72551339
12 UGT1A1 p.Glu291Val VAR_026138
13 UGT1A1 p.Arg336Leu VAR_026140
14 UGT1A1 p.Arg336Gln VAR_026141 rs750453538
15 UGT1A1 p.His376Arg VAR_026144 rs134903776
16 UGT1A1 p.Gly377Val VAR_026145 rs128365272
17 UGT1A1 p.Pro387Ser VAR_026146 rs901936528
18 UGT1A1 p.Gly395Val VAR_026147 rs367897068
19 UGT1A1 p.Trp461Arg VAR_026149 rs147650032
20 UGT1A1 p.Lys402Thr VAR_064960
21 UGT1A1 p.Asp36Asn VAR_071402

Expression for Crigler-Najjar Syndrome, Type I

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

Pathways for Crigler-Najjar Syndrome, Type I

Pathways related to Crigler-Najjar Syndrome, Type I according to KEGG:

36
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.13 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
2
Show member pathways
13.29 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
3
Show member pathways
12.7 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
4 12.64 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5
Show member pathways
12.33 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
6 12.21 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
7
Show member pathways
12.01 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
8
Show member pathways
11.99 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
9
Show member pathways
11.96 UGT2B4 UGT1A9 UGT1A3 UGT1A1
10
Show member pathways
11.92 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
11
Show member pathways
11.9 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
12
Show member pathways
11.84 UGT2B10 UGT1A4 UGT1A3
13
Show member pathways
11.78 UGT2B4 UGT1A9 UGT1A8 UGT1A3 UGT1A10 UGT1A1
14
Show member pathways
11.78 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
15
Show member pathways
11.7 UGT1A9 UGT1A6 UGT1A4 UGT1A1
16 11.67 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
17
Show member pathways
11.49 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
18
Show member pathways
11.47 UGT1A8 UGT1A4 UGT1A3 UGT1A10
19 11.45 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1
20 11.39 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
21
Show member pathways
11.33 UGT1A9 UGT1A7 UGT1A1
22 11.03 UGT2B4 UGT1A9 UGT1A4 UGT1A3
23 10.79 UGT1A4 UGT1A3
24 10.71 UGT2B4 UGT1A9 UGT1A10
25
Show member pathways
10.65 UGT1A3 UGT1A1

GO Terms for Crigler-Najjar Syndrome, Type I

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
2 endoplasmic reticulum GO:0005783 9.77 UGT2B4 UGT2B10 UGT2A2 UGT1A9 UGT1A8 UGT1A7
3 intracellular membrane-bounded organelle GO:0043231 9.73 UGT2B4 UGT2B10 UGT2A3 UGT1A6 UGT1A1 OTC
4 endoplasmic reticulum membrane GO:0005789 9.4 UGT2B4 UGT2B10 UGT2A2 UGT1A9 UGT1A8 UGT1A7

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 xenobiotic glucuronidation GO:0052697 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 estrogen metabolic process GO:0008210 9.78 UGT2B4 UGT1A7 UGT1A3 UGT1A1
3 drug metabolic process GO:0017144 9.76 UGT1A8 UGT1A7 UGT1A1 NT5C2
4 negative regulation of catalytic activity GO:0043086 9.74 UGT1A8 UGT1A7 UGT1A1
5 retinoic acid metabolic process GO:0042573 9.72 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
6 negative regulation of fatty acid metabolic process GO:0045922 9.67 UGT1A8 UGT1A4 UGT1A10 UGT1A1
7 flavone metabolic process GO:0051552 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A10 UGT1A1
8 negative regulation of cellular glucuronidation GO:2001030 9.61 UGT1A4 UGT1A10 UGT1A1
9 flavonoid glucuronidation GO:0052696 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10 nucleotide metabolic process GO:0009117 9.58 NT5C2 NT5C1A
11 purine nucleotide catabolic process GO:0006195 9.58 NT5C2 NT5C1A
12 negative regulation of glucuronosyltransferase activity GO:1904224 9.58 UGT1A4 UGT1A10 UGT1A1
13 adenosine metabolic process GO:0046085 9.56 NT5C2 NT5C1A
14 heme catabolic process GO:0042167 9.55 UGT1A4 UGT1A1
15 coumarin metabolic process GO:0009804 9.54 UGT1A8 UGT1A7
16 vitamin D3 metabolic process GO:0070640 9.52 UGT1A4 UGT1A3
17 negative regulation of steroid metabolic process GO:0045939 9.51 UGT1A8 UGT1A1
18 bilirubin conjugation GO:0006789 9.49 UGT1A4 UGT1A1
19 cellular glucuronidation GO:0052695 9.36 UGT2B4 UGT2A3 UGT2A2 UGT1A9 UGT1A8 UGT1A7

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.17 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
2 protein homodimerization activity GO:0042803 10.03 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 enzyme binding GO:0019899 10.01 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 protein heterodimerization activity GO:0046982 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
5 transferase activity, transferring glycosyl groups GO:0016757 9.97 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
6 retinoic acid binding GO:0001972 9.91 UGT2B4 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4
7 glucuronosyltransferase activity GO:0015020 9.77 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8
8 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
9 drug binding GO:0008144 9.51 UGT1A8 UGT1A7
10 steroid binding GO:0005496 9.49 UGT1A8 UGT1A1
11 5'-nucleotidase activity GO:0008253 9.48 NT5C2 NT5C1A
12 UDP-glycosyltransferase activity GO:0008194 9.44 UGT2B4 UGT2B10 UGT2A3 UGT2A2 UGT1A9 UGT1A8

Sources for Crigler-Najjar Syndrome, Type I

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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