MCID: CRG003
MIFTS: 61

Crigler-Najjar Syndrome, Type I

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver 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 53 13 38 40
Crigler-Najjar Syndrome 57 38 12 25 59 37 29 55 6 44 15
Crigler Najjar Syndrome, Type 1 53 29 6 73
Hereditary Unconjugated Hyperbilirubinemia 25 59
Crigler Najjar Syndrome 12 25
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 59
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 59
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 25
Hyperbilirubinemia, Crigler-Najjar Type I; Hblrcn1 57
Hereditary Unconjugated Hyperbilirubinemia Type 1 59
Bilirubin Udp Glucuronyl Transferase Deficiency 12
Hyperbilirubinemia, Crigler-Najjar Type I 57
Bilirubin-Ugt Deficiency Type 1 59
Crigler-Najjar Syndrome Type 1 59
Crigler-Najjar Syndrome Type I 75
Crigler-Najjar Syndrome 1 75
Bilirubin-Ugt Deficiency 59
Ugt Deficiency Type 1 59
Ugt Deficiency 59
Hblrcn1 57
Cn-I 75
Cn1 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

Miscellaneous:
very rare
death in infancy secondary to kernicterus
no response to phenobarbital


HPO:

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


Classifications:



Summaries for Crigler-Najjar Syndrome, Type I

NIH Rare Diseases : 53 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.  

MalaCards based summary : Crigler-Najjar Syndrome, Type I, also known as crigler-najjar syndrome, is related to gilbert syndrome and crigler-najjar syndrome, type ii. 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 Liver Extracts and Ornithine have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and brain, and related phenotypes are intellectual disability and seizures

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).

Genetics Home Reference : 25 Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).

UniProtKB/Swiss-Prot : 75 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 : 76 Crigler–Najjar syndrome or CNS is a rare inherited disorder affecting the metabolism of bilirubin, a... more...

Description from OMIM: 218800

Related Diseases for Crigler-Najjar Syndrome, Type I

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
5 encephalitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002383
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
7 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
8 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
9 ophthalmoparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000597
10 memory impairment 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002354
11 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
12 biliary tract abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0001080
13 unconjugated hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008282
14 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
15 prolonged neonatal jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0006579
16 oculomotor nerve palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0012246
17 infantile muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008947
18 neonatal hyperbilirubinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003265
19 kernicterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001343
20 cognitive impairment 59 Occasional (29-5%)
21 abnormality of the liver 59 Very frequent (99-80%),Very frequent (99-80%)
22 encephalopathy 32 HP:0001298

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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 1, Phase 2,Phase 2
2
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
3
Acetylcholine Approved Not Applicable 51-84-3 187
4
Orlistat Approved, Investigational Not Applicable 96829-58-2 3034010
5 abobotulinumtoxinA Not Applicable
6 Botulinum Toxins Not Applicable
7 Botulinum Toxins, Type A Not Applicable
8 Cholinergic Agents Not Applicable
9 Neuromuscular Agents Not Applicable
10 Neurotransmitter Agents Not Applicable
11 onabotulinumtoxinA Not Applicable
12 Peripheral Nervous System Agents Not Applicable
13 Anti-Obesity Agents Not Applicable
14
Bilirubin Not Applicable 635-65-4 5280352

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
2 Gene Therapy for Severe Crigler Najjar Syndrome Recruiting NCT03466463 Phase 1, Phase 2
3 Gene Transfer Clinical Study in Crigler-Najjar Syndrome Recruiting NCT03223194 Phase 1, Phase 2
4 Hepatocyte Transplantation in Liver Failure Withdrawn NCT00805610 Phase 1, Phase 2
5 Hepatocyte Transplantation for Liver Based Metabolic Disorders Suspended NCT01345578 Phase 1 human hepatocyte transplantation
6 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707 Not Applicable
7 Orlistat Treatment of Crigler-Najjar Disease Completed NCT00461799 Not Applicable orlistat
8 Immunity Against AAV in Crigler Najjar Patient Completed NCT02302690
9 Clinical Assessment Study in Crigler-Najjar Syndrome Recruiting NCT03078881
10 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Recruiting NCT02356978 Not Applicable
11 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Active, not recruiting NCT02051049
12 HepaStem Long-Term Safety Registry Not yet recruiting 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 UGT1A1
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:

41
Liver, Brain, Testes
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 Potential therapeutic candidate, affected by disease

Publications for Crigler-Najjar Syndrome, Type I

Articles related to Crigler-Najjar Syndrome, Type I:

(show top 50) (show all 153)
# Title Authors Year
1
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095 )
2017
2
Crigler-Najjar syndrome: current perspectives and the application of clinical genetics. ( 29237388 )
2017
3
Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. ( 26968162 )
2016
4
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. ( 27264814 )
2016
5
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. ( 25993113 )
2015
6
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
7
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. ( 26697581 )
2015
8
A novel stop codon mutation in exon 1 (558C>A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I. ( 25729974 )
2015
9
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
10
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. ( 24401909 )
2014
11
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. ( 24749086 )
2014
12
[Crigler-Najjar syndrome. Report of one case with a long term follow up]. ( 24861123 )
2014
13
Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene. ( 24793765 )
2014
14
Life-long correction of hyperbilirubinemia with a neonatal liver-specific AAV-mediated gene transfer in a lethal mouse model of Crigler-Najjar Syndrome. ( 25072305 )
2014
15
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. ( 24341141 )
2013
16
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
17
UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation. ( 24286076 )
2013
18
Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature. ( 24217087 )
2013
19
Perioperative management of a patient with hemophilia A and crigler-najjar syndrome. ( 24250018 )
2013
20
Intrathecal Baclofen Therapy After Liver Transplant in a Patient With Crigler-Najjar Syndrome. ( 24365780 )
2013
21
Recommendations for pregnancies in patients with crigler-najjar syndrome. ( 23430496 )
2013
22
Crigler-Najjar syndrome II and pregnancy outcome. ( 22296437 )
2012
23
Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation. ( 22414515 )
2012
24
UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2. ( 22722682 )
2012
25
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. ( 22094718 )
2012
26
Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation. ( 23162302 )
2012
27
Liver transplantation in Crigler-Najjar syndrome type I disease. ( 23060403 )
2012
28
Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. ( 22710376 )
2012
29
Rhabdomyolysis-induced acute renal failure associated with 2009 influenza A (H1N1) virus infection in a child with Crigler-Najjar syndrome. ( 20828972 )
2012
30
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
31
Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II. ( 21319362 )
2011
32
Three consecutive pregnancies in a woman with Crigler-Najjar syndrome type II with good maternal and neonatal outcomes. ( 20843754 )
2011
33
Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome. ( 21297505 )
2011
34
A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome. ( 22340355 )
2011
35
Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome. ( 19953640 )
2010
36
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants. ( 19830808 )
2010
37
Total knee arthroplasty and Crigler-Najjar syndrome: a case report. ( 19751978 )
2010
38
Novel human pathological mutations. Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1. ( 21488310 )
2010
39
Liver transplant for Crigler-Najjar syndrome. ( 20371903 )
2010
40
[Indirect hyperbilirubinemia of genetic origin: Case report of Crigler-Najjar syndrome type II]. ( 20672181 )
2010
41
A step toward liver gene therapy: efficient correction of the genetic defect of hepatocytes isolated from a patient with Crigler-Najjar syndrome type 1 with lentiviral vectors. ( 19352119 )
2009
42
Pregnancy outcome in maternal Crigler-Najjar syndrome type II: a case report and systematic review of the literature. ( 19752526 )
2009
43
Towards liver-directed gene therapy for Crigler-Najjar syndrome. ( 19355865 )
2009
44
Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I. ( 19217809 )
2009
45
Pregnancy with Crigler-Najjar syndrome type II. ( 19358036 )
2009
46
Living related liver transplantation in Crigler-Najjar syndrome type 1. ( 19765461 )
2009
47
Gene symbol: UGT1A1. Disease: Crigler-Najjar syndrome 1. ( 18846625 )
2008
48
Liver cell transplantation for Crigler-Najjar syndrome type I: update and perspectives. ( 18567072 )
2008
49
Treatment of Crigler-Najjar Syndrome type 1 by hepatic progenitor cell transplantation: a simple procedure for management of hyperbilirubinemia. ( 18555136 )
2008
50
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis. ( 18419642 )
2008

Variations for Crigler-Najjar Syndrome, Type I

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

75 (show all 22)
# 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
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
16 UGT1A1 p.Gly377Val VAR_026145
17 UGT1A1 p.Pro387Ser VAR_026146 rs901936528
18 UGT1A1 p.Gly395Val VAR_026147 rs367897068
19 UGT1A1 p.Trp461Arg VAR_026149
20 UGT1A1 p.Lys402Thr VAR_064960
21 UGT1A1 p.Asp36Asn VAR_071402
22 UGT1A4 p.Ser376Phe VAR_007711 rs72551353

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

6
(show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) indel Pathogenic rs587776761 GRCh37 Chromosome 2, 234675692: 234675705
2 UGT1A1 NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) indel Pathogenic rs587776761 GRCh38 Chromosome 2, 233767046: 233767059
3 UGT1A1 NM_000463.2(UGT1A1): c.1124C> T (p.Ser375Phe) single nucleotide variant Pathogenic rs72551353 GRCh37 Chromosome 2, 234676905: 234676905
4 UGT1A1 NM_000463.2(UGT1A1): c.1124C> T (p.Ser375Phe) single nucleotide variant Pathogenic rs72551353 GRCh38 Chromosome 2, 233768259: 233768259
5 UGT1A1 NM_000463.2(UGT1A1): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs111033539 GRCh37 Chromosome 2, 234675806: 234675806
6 UGT1A1 NM_000463.2(UGT1A1): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs111033539 GRCh38 Chromosome 2, 233767160: 233767160
7 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh37 Chromosome 2, 234676519: 234676519
8 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh38 Chromosome 2, 233767873: 233767873
9 UGT1A1 NM_000463.2(UGT1A1): c.513_515delCTT (p.Phe171del) deletion Pathogenic rs587776762 GRCh37 Chromosome 2, 234669446: 234669448
10 UGT1A1 NM_000463.2(UGT1A1): c.513_515delCTT (p.Phe171del) deletion Pathogenic rs587776762 GRCh38 Chromosome 2, 233760800: 233760802
11 UGT1A1 NM_000463.2(UGT1A1): c.923G> A (p.Gly308Glu) single nucleotide variant Pathogenic rs62625011 GRCh37 Chromosome 2, 234675738: 234675738
12 UGT1A1 NM_000463.2(UGT1A1): c.923G> A (p.Gly308Glu) single nucleotide variant Pathogenic rs62625011 GRCh38 Chromosome 2, 233767092: 233767092
13 UGT1A1 NM_000463.2(UGT1A1): c.840C> A (p.Cys280Ter) single nucleotide variant Pathogenic rs281865418 GRCh37 Chromosome 2, 234669773: 234669773
14 UGT1A1 NM_000463.2(UGT1A1): c.840C> A (p.Cys280Ter) single nucleotide variant Pathogenic rs281865418 GRCh38 Chromosome 2, 233761127: 233761127
15 UGT1A1 NM_000463.2(UGT1A1): c.474_475insT (p.Ile159Tyrfs) insertion Pathogenic rs587776763 GRCh37 Chromosome 2, 234669407: 234669408
16 UGT1A1 NM_000463.2(UGT1A1): c.474_475insT (p.Ile159Tyrfs) insertion Pathogenic rs587776763 GRCh38 Chromosome 2, 233760761: 233760762
17 UGT1A1 NM_000463.2(UGT1A1): c.864+1G> C single nucleotide variant Pathogenic rs587776764 GRCh37 Chromosome 2, 234669798: 234669798
18 UGT1A1 NM_000463.2(UGT1A1): c.864+1G> C single nucleotide variant Pathogenic rs587776764 GRCh38 Chromosome 2, 233761152: 233761152
19 UGT1A1 NM_000463.2(UGT1A1): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs587776765 GRCh37 Chromosome 2, 234669078: 234669078
20 UGT1A1 NM_000463.2(UGT1A1): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs587776765 GRCh38 Chromosome 2, 233760432: 233760432
21 UGT1A1 NM_000463.2(UGT1A1): c.1085-2A> G single nucleotide variant Pathogenic rs587776766 GRCh37 Chromosome 2, 234676864: 234676864
22 UGT1A1 NM_000463.2(UGT1A1): c.1085-2A> G single nucleotide variant Pathogenic rs587776766 GRCh38 Chromosome 2, 233768218: 233768218
23 UGT1A1 NM_000463.2(UGT1A1): c.1070A> G (p.Gln357Arg) single nucleotide variant Pathogenic rs72551351 GRCh37 Chromosome 2, 234676568: 234676568
24 UGT1A1 NM_000463.2(UGT1A1): c.1070A> G (p.Gln357Arg) single nucleotide variant Pathogenic rs72551351 GRCh38 Chromosome 2, 233767922: 233767922
25 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
26 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
27 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
28 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
29 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh37 Chromosome 2, 234676903: 234676903
30 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh38 Chromosome 2, 233768257: 233768257
31 UGT1A1 NM_000463.2(UGT1A1): c.722_723delAG (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh38 Chromosome 2, 233761009: 233761010
32 UGT1A1 NM_000463.2(UGT1A1): c.722_723delAG (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh37 Chromosome 2, 234669655: 234669656
33 UGT1A1 NM_000463.2(UGT1A1): c.353dupA (p.Asp119Glyfs) duplication Pathogenic rs886039771 GRCh38 Chromosome 2, 233760640: 233760640
34 UGT1A1 NM_000463.2(UGT1A1): c.353dupA (p.Asp119Glyfs) duplication Pathogenic rs886039771 GRCh37 Chromosome 2, 234669286: 234669286
35 UGT1A1 NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs72551350 GRCh37 Chromosome 2, 234676567: 234676567
36 UGT1A1 NM_000463.2(UGT1A1): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs72551350 GRCh38 Chromosome 2, 233767921: 233767921
37 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh37 Chromosome 2, 234681416: 234681416
38 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh38 Chromosome 2, 233772770: 233772770
39 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh37 Chromosome 2, 234681790: 234681790
40 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh38 Chromosome 2, 233773144: 233773144
41 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh37 Chromosome 2, 234669227: 234669227
42 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh38 Chromosome 2, 233760581: 233760581
43 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh37 Chromosome 2, 234669233: 234669233
44 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh38 Chromosome 2, 233760587: 233760587
45 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh37 Chromosome 2, 234669410: 234669410
46 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh38 Chromosome 2, 233760764: 233760764
47 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh37 Chromosome 2, 234680925: 234680925
48 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh38 Chromosome 2, 233772279: 233772279
49 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh37 Chromosome 2, 234681544: 234681544
50 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh38 Chromosome 2, 233772898: 233772898

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:

37
# 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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CNDP2 NT5C1A NT5C2 OTC UGT1A1 UGT1A4
2
Show member pathways
12.95 CNDP2 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3
Show member pathways
12.56 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 12.3 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5
Show member pathways
12.13 UGT1A1 UGT1A4 UGT1A6 UGT1A9
6 11.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7
Show member pathways
11.6 UGT1A1 UGT1A4 UGT1A6 UGT1A9
8
Show member pathways
11.52 UGT1A1 UGT1A9
9
Show member pathways
11.48 UGT1A1 UGT1A4 UGT1A6 UGT1A9
10
Show member pathways
11.46 UGT1A1 UGT1A4 UGT1A9
11
Show member pathways
11.37 UGT1A1 UGT1A4 UGT1A6 UGT1A9
12
Show member pathways
11.3 UGT1A1 UGT1A4 UGT1A6 UGT1A9
13 11.14 UGT1A1 UGT1A4 UGT1A6 UGT1A9
14
Show member pathways
10.96 UGT1A1 UGT1A9
15 10.93 UGT1A4 UGT1A6 UGT1A9
16
Show member pathways
10.79 UGT1A1 UGT1A4 UGT1A6 UGT1A9
17
Show member pathways
10.74 UGT1A4 UGT1A9
18 10.67 UGT1A4 UGT1A9
19 10.43 UGT1A1 UGT1A4 UGT1A6 UGT1A9

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 endoplasmic reticulum membrane GO:0005789 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 endoplasmic reticulum GO:0005783 9.35 SLC35A2 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 intracellular membrane-bounded organelle GO:0043231 9.02 OTC UGT1A1 UGT1A4 UGT1A6 UGT1A9

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.73 CNDP2 NT5C2 UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 liver development GO:0001889 9.52 OTC UGT1A1
3 nucleotide metabolic process GO:0009117 9.51 NT5C1A NT5C2
4 drug metabolic process GO:0017144 9.49 NT5C2 UGT1A1
5 retinoic acid metabolic process GO:0042573 9.48 UGT1A1 UGT1A9
6 purine nucleotide catabolic process GO:0006195 9.46 NT5C1A NT5C2
7 cellular glucuronidation GO:0052695 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
8 heme catabolic process GO:0042167 9.43 UGT1A1 UGT1A4
9 adenosine metabolic process GO:0046085 9.4 NT5C1A NT5C2
10 flavone metabolic process GO:0051552 9.37 UGT1A1 UGT1A9
11 bilirubin conjugation GO:0006789 9.32 UGT1A1 UGT1A4
12 xenobiotic glucuronidation GO:0052697 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
13 flavonoid glucuronidation GO:0052696 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 OTC UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 protein homodimerization activity GO:0042803 9.73 UGT1A1 UGT1A4 UGT1A6 UGT1A9
3 protein heterodimerization activity GO:0046982 9.71 UGT1A1 UGT1A4 UGT1A6 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.62 UGT1A1 UGT1A4 UGT1A6 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.56 UGT1A1 UGT1A4 UGT1A6 UGT1A9
6 glucuronosyltransferase activity GO:0015020 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7 5-nucleotidase activity GO:0008253 9.37 NT5C1A NT5C2
8 retinoic acid binding GO:0001972 9.26 UGT1A1 UGT1A4 UGT1A6 UGT1A9
9 UDP-glycosyltransferase activity GO:0008194 8.92 UGT1A1 UGT1A4 UGT1A6 UGT1A9

Sources for Crigler-Najjar Syndrome, Type I

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