CN1
MCID: CRG003
MIFTS: 60

Crigler-Najjar Syndrome, Type I (CN1)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal 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 58 12 54 13 39 41
Crigler-Najjar Syndrome 58 39 12 77 26 60 38 30 56 6 45 15
Crigler Najjar Syndrome, Type 1 54 6 74
Hereditary Unconjugated Hyperbilirubinemia 26 60
Crigler Najjar Syndrome 12 26
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1 60
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency 60
Familial Nonhemolytic Unconjugated Hyperbilirubinemia 26
Hyperbilirubinemia, Crigler-Najjar Type I; Hblrcn1 58
Hereditary Unconjugated Hyperbilirubinemia Type 1 60
Bilirubin Udp Glucuronyl Transferase Deficiency 12
Hyperbilirubinemia, Crigler-Najjar Type I 58
Bilirubin-Ugt Deficiency Type 1 60
Crigler-Najjar Syndrome Type 1 60
Crigler-Najjar Syndrome Type I 76
Crigler-Najjar Syndrome 1 76
Bilirubin-Ugt Deficiency 60
Ugt Deficiency Type 1 60
Ugt Deficiency 60
Hblrcn1 58
Cn-I 76
Cn1 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Crigler-Najjar Syndrome, Type I

NIH Rare Diseases : 54 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 carbamide peroxide and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and brain, and related phenotypes are jaundice and biliary tract abnormality

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 : 26 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 : 76 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 : 77 Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin, a chemical... more...

Description from OMIM: 218800

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 all 36)
# Related Disease Score Top Affiliating Genes
1 gilbert syndrome 30.9 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A1
2 crigler-najjar syndrome, type ii 30.5 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A1 UGT1A
3 bilirubin metabolic disorder 30.3 UGT1A UGT1A1 UGT1A6
4 kernicterus 30.2 UGT1A9 UGT1A6 UGT1A4 UGT1A1
5 olfactory nerve disease 11.2
6 cholestasis 10.4
7 frasier syndrome 10.3
8 hemophilia a 10.3
9 ichthyosis, x-linked 10.3
10 beta-thalassemia 10.3
11 hepatitis 10.3
12 liver cirrhosis 10.3
13 thalassemia 10.3
14 hereditary spherocytosis 10.3
15 acute cholangitis 10.3
16 ichthyosis 10.3
17 neonatal jaundice 10.3
18 influenza 10.3
19 cholangitis 10.3
20 hemophilia 10.3
21 congenital nonhemolytic jaundice 10.3
22 encephalopathy 10.3
23 thyroid cancer, nonmedullary, 1 10.1
24 thyroid cancer 10.1
25 irinotecan toxicity 10.1 UGT1A UGT1A1
26 brain stem glioma 10.0 UGT1A UGT1A1
27 descending colon cancer 10.0 UGT1A1 UGT1A6
28 pigmentation disease 10.0 UGT1A1 UGT1A6
29 dihydropyrimidine dehydrogenase deficiency 9.9 UGT1A1 UGT1A6
30 cholelithiasis 9.9 UGT1A1 UGT1A6
31 pericholangitis 9.9 UGT1A4 UGT1A8
32 sickle cell anemia 9.8 UGT1A1 UGT1A6
33 acetaminophen metabolism 9.7 UGT1A1 UGT1A6 UGT1A9
34 inherited metabolic disorder 9.7 UGT1A1 UGT1A6
35 leber congenital amaurosis 4 9.2 UGT1A9 UGT1A8 UGT1A6 UGT1A1
36 bilirubin, serum level of, quantitative trait locus 1 9.0 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A1

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:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
2 biliary tract abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0001080
3 unconjugated hyperbilirubinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008282
4 prolonged neonatal jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0006579
5 infantile muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008947
6 neonatal hyperbilirubinemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003265
7 kernicterus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001343
8 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
9 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
10 seizures 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001250
11 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
12 encephalitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002383
13 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000365
14 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
15 ophthalmoparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000597
16 memory impairment 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002354
17 vertigo 60 33 occasional (7.5%) Occasional (29-5%) HP:0002321
18 lethargy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001254
19 oculomotor nerve palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0012246
20 cognitive impairment 60 Occasional (29-5%)
21 abnormality of the liver 60 Very frequent (99-80%),Very frequent (99-80%)
22 encephalopathy 33 HP:0001298

Symptoms via clinical synopsis from OMIM:

58
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

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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 1, Phase 2 124-43-6
2 Liver Extracts Phase 1, Phase 2,Phase 2
3
Ornithine Approved, Nutraceutical Phase 1 3184-13-2, 70-26-8 6262
4
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
5
Orlistat Approved, Investigational Not Applicable 96829-58-2 3034010
6 Botulinum Toxins, Type A Not Applicable
7 Neurotransmitter Agents Not Applicable
8 Acetylcholine Release Inhibitors Not Applicable
9 Cholinergic Agents Not Applicable
10 Neuromuscular Agents Not Applicable
11 abobotulinumtoxinA Not Applicable
12 Botulinum Toxins Not Applicable
13 Peripheral Nervous System Agents Not Applicable
14 Anti-Obesity Agents Not Applicable
15 Lipid Regulating Agents Not Applicable
16
Bilirubin Not Applicable 635-65-4, 69853-43-6 5280352 21252250

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 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978 Not Applicable
7 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Unknown status NCT02051049
8 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707 Not Applicable
9 Clinical Assessment Study in Crigler-Najjar Syndrome Completed NCT03078881
10 Orlistat Treatment of Crigler-Najjar Disease Completed NCT00461799 Not Applicable orlistat
11 Immunity Against AAV in Crigler Najjar Patient Completed NCT02302690
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 30

Anatomical Context for Crigler-Najjar Syndrome, Type I

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

42
Liver, Brain, Testes, T Cells
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 177)
# Title Authors Year
1
Preclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome. ( 30705921 )
2019
2
Phase I/II Trial of Liver Derived Mesenchymal Stem Cells in Pediatric Liver Based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-Derived Progenitor Cells (HepaStem®) in Urea Cycle Disorders and Crigler-Najjar Syndrome patients. ( 30801523 )
2019
3
Liver Cirrhosis in a Patient with Crigler Najjar Syndrome. ( 30260719 )
2018
4
Quantitative Systems Pharmacology Model of hUGT1A1-modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler-Najjar Syndrome Type 1. ( 29637732 )
2018
5
Determining the Minimally Effective Dose of a Clinical Candidate AAV Vector in a Mouse Model of Crigler-Najjar Syndrome. ( 30112420 )
2018
6
Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth. ( 30266131 )
2018
7
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome. ( 30285761 )
2018
8
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome. ( 30385458 )
2018
9
AAV8 Gene Therapy for Crigler-Najjar Syndrome in Macaques Elicited Transgene T Cell Responses That Are Resident to the Liver. ( 30547050 )
2018
10
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. ( 29137095 )
2017
11
Crigler-Najjar syndrome: current perspectives and the application of clinical genetics. ( 29237388 )
2017
12
Gunn Rats as a Surrogate Model for Evaluation of Hepatocyte Transplantation-Based Therapies of Crigler-Najjar Syndrome Type 1. ( 27830550 )
2017
13
Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report. ( 28590786 )
2017
14
Promoterless gene targeting without nucleases rescues lethality of a Crigler-Najjar syndrome mouse model. ( 28751579 )
2017
15
Repeated AAV-mediated gene transfer by serotype switching enables long-lasting therapeutic levels of hUgt1a1 enzyme in a mouse model of Crigler-Najjar Syndrome Type I. ( 28805798 )
2017
16
Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults. ( 28892962 )
2017
17
Severe Neonatal Hyperbilirubinemia in Crigler-Najjar Syndrome Model Mice Can Be Reversed With Zinc Protoporphyrin. ( 29399656 )
2017
18
Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report. ( 26968162 )
2016
19
[Genetic analysis of a child affected with Crigler-Najjar syndrome type II]. ( 27264814 )
2016
20
X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3. ( 26676689 )
2016
21
De Novo Donor-Specific HLA Antibody Formation in Two Patients With Crigler-Najjar Syndrome Type I Following Human Hepatocyte Transplantation With Partial Hepatectomy Preconditioning. ( 26523372 )
2016
22
Reduction of hyperbilirubinemia with hypericum extract (St. John's Wort) in a patient with Crigler-Najjar syndrome type II. ( 26692114 )
2016
23
Management of pregnancy in Crigler Najjar syndrome type 2. ( 27099654 )
2016
24
A translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndrome. ( 27722180 )
2016
25
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II. ( 25993113 )
2015
26
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
27
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. ( 26697581 )
2015
28
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
29
Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2. ( 25966095 )
2015
30
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
31
Truncated UDP-glucuronosyltransferase (UGT) from a Crigler-Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum. ( 24401909 )
2014
32
Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. ( 24749086 )
2014
33
[Crigler-Najjar syndrome. Report of one case with a long term follow up]. ( 24861123 )
2014
34
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
35
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
36
Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect. ( 24341141 )
2013
37
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
38
UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation. ( 24286076 )
2013
39
Neurophysiological follow-up of two siblings with Crigler-Najjar syndrome type I and review of literature. ( 24217087 )
2013
40
Perioperative management of a patient with hemophilia A and crigler-najjar syndrome. ( 24250018 )
2013
41
Intrathecal Baclofen Therapy After Liver Transplant in a Patient With Crigler-Najjar Syndrome. ( 24365780 )
2013
42
Recommendations for pregnancies in patients with crigler-najjar syndrome. ( 23430496 )
2013
43
Crigler-Najjar syndrome II and pregnancy outcome. ( 22296437 )
2012
44
Orthodontic treatment of a child with Crigler-Najjar syndrome type I using tacrolimus following liver transplantation. ( 22414515 )
2012
45
UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2. ( 22722682 )
2012
46
Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer. ( 22094718 )
2012
47
Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation. ( 23162302 )
2012
48
Liver transplantation in Crigler-Najjar syndrome type I disease. ( 23060403 )
2012
49
Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. ( 22710376 )
2012
50
Rhabdomyolysis-induced acute renal failure associated with 2009 influenza A (H1N1) virus infection in a child with Crigler-Najjar syndrome. ( 20828972 )
2012

Variations for Crigler-Najjar Syndrome, Type I

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

76 (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

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

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
2 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
3 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
4 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
5 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh37 Chromosome 2, 234676903: 234676903
6 UGT1A1 NM_000463.2(UGT1A1): c.1122T> C (p.Gly374=) single nucleotide variant Uncertain significance rs139698110 GRCh38 Chromosome 2, 233768257: 233768257
7 UGT1A1 NM_000463.2(UGT1A1): c.722_723del (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh38 Chromosome 2, 233761009: 233761010
8 UGT1A1 NM_000463.2(UGT1A1): c.722_723del (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh37 Chromosome 2, 234669655: 234669656
9 UGT1A1 NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) indel Pathogenic rs587776761 GRCh37 Chromosome 2, 234675692: 234675705
10 UGT1A1 NM_000463.2(UGT1A1): c.877_890delTACATTAATGCTTCinsA (p.Tyr293Metfs) indel Pathogenic rs587776761 GRCh38 Chromosome 2, 233767046: 233767059
11 UGT1A1 NM_000463.2(UGT1A1): c.1124C> T (p.Ser375Phe) single nucleotide variant Pathogenic rs72551353 GRCh37 Chromosome 2, 234676905: 234676905
12 UGT1A1 NM_000463.2(UGT1A1): c.1124C> T (p.Ser375Phe) single nucleotide variant Pathogenic rs72551353 GRCh38 Chromosome 2, 233768259: 233768259
13 UGT1A1 NM_000463.2(UGT1A1): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs111033539 GRCh37 Chromosome 2, 234675806: 234675806
14 UGT1A1 NM_000463.2(UGT1A1): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic rs111033539 GRCh38 Chromosome 2, 233767160: 233767160
15 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh37 Chromosome 2, 234676519: 234676519
16 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh38 Chromosome 2, 233767873: 233767873
17 UGT1A1 NM_000463.2(UGT1A1): c.513_515delCTT (p.Phe171del) deletion Pathogenic rs587776762 GRCh37 Chromosome 2, 234669446: 234669448
18 UGT1A1 NM_000463.2(UGT1A1): c.513_515delCTT (p.Phe171del) deletion Pathogenic rs587776762 GRCh38 Chromosome 2, 233760800: 233760802
19 UGT1A1 NM_000463.2(UGT1A1): c.923G> A (p.Gly308Glu) single nucleotide variant Pathogenic rs62625011 GRCh37 Chromosome 2, 234675738: 234675738
20 UGT1A1 NM_000463.2(UGT1A1): c.923G> A (p.Gly308Glu) single nucleotide variant Pathogenic rs62625011 GRCh38 Chromosome 2, 233767092: 233767092
21 UGT1A1 NM_000463.2(UGT1A1): c.840C> A (p.Cys280Ter) single nucleotide variant Pathogenic rs281865418 GRCh37 Chromosome 2, 234669773: 234669773
22 UGT1A1 NM_000463.2(UGT1A1): c.840C> A (p.Cys280Ter) single nucleotide variant Pathogenic rs281865418 GRCh38 Chromosome 2, 233761127: 233761127
23 UGT1A1 NM_000463.2(UGT1A1): c.474_475insT (p.Ile159Tyrfs) insertion Pathogenic rs587776763 GRCh37 Chromosome 2, 234669407: 234669408
24 UGT1A1 NM_000463.2(UGT1A1): c.474_475insT (p.Ile159Tyrfs) insertion Pathogenic rs587776763 GRCh38 Chromosome 2, 233760761: 233760762
25 UGT1A1 NM_000463.2(UGT1A1): c.864+1G> C single nucleotide variant Pathogenic rs587776764 GRCh37 Chromosome 2, 234669798: 234669798
26 UGT1A1 NM_000463.2(UGT1A1): c.864+1G> C single nucleotide variant Pathogenic rs587776764 GRCh38 Chromosome 2, 233761152: 233761152
27 UGT1A1 NM_000463.2(UGT1A1): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs587776765 GRCh37 Chromosome 2, 234669078: 234669078
28 UGT1A1 NM_000463.2(UGT1A1): c.145C> T (p.Gln49Ter) single nucleotide variant Pathogenic rs587776765 GRCh38 Chromosome 2, 233760432: 233760432
29 UGT1A1 NM_000463.2(UGT1A1): c.1085-2A> G single nucleotide variant Pathogenic rs587776766 GRCh37 Chromosome 2, 234676864: 234676864
30 UGT1A1 NM_000463.2(UGT1A1): c.1085-2A> G single nucleotide variant Pathogenic rs587776766 GRCh38 Chromosome 2, 233768218: 233768218
31 UGT1A1 NM_000463.2(UGT1A1): c.1070A> G (p.Gln357Arg) single nucleotide variant Pathogenic rs72551351 GRCh37 Chromosome 2, 234676568: 234676568
32 UGT1A1 NM_000463.2(UGT1A1): c.1070A> G (p.Gln357Arg) single nucleotide variant Pathogenic rs72551351 GRCh38 Chromosome 2, 233767922: 233767922
33 UGT1A1 NM_000463.2(UGT1A1): c.353dupA (p.Asp119Glyfs) duplication Pathogenic rs748219743 GRCh38 Chromosome 2, 233760640: 233760640
34 UGT1A1 NM_000463.2(UGT1A1): c.353dupA (p.Asp119Glyfs) duplication Pathogenic rs748219743 GRCh37 Chromosome 2, 234669286: 234669286
35 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh38 Chromosome 2, 233772770: 233772770
36 UGT1A1 NM_000463.2(UGT1A1): c.*211T> C single nucleotide variant Benign rs10929303 GRCh37 Chromosome 2, 234681416: 234681416
37 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh38 Chromosome 2, 233773144: 233773144
38 UGT1A1 NM_000463.2(UGT1A1): c.*585G> T single nucleotide variant Uncertain significance rs886055800 GRCh37 Chromosome 2, 234681790: 234681790
39 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh38 Chromosome 2, 233760581: 233760581
40 UGT1A1 NM_000463.2(UGT1A1): c.294T> C (p.Asn98=) single nucleotide variant Uncertain significance rs138183896 GRCh37 Chromosome 2, 234669227: 234669227
41 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh38 Chromosome 2, 233760587: 233760587
42 UGT1A1 NM_000463.2(UGT1A1): c.300T> C (p.Phe100=) single nucleotide variant Uncertain significance rs374655757 GRCh37 Chromosome 2, 234669233: 234669233
43 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh38 Chromosome 2, 233760764: 233760764
44 UGT1A1 NM_000463.2(UGT1A1): c.477C> T (p.Ile159=) single nucleotide variant Uncertain significance rs199766420 GRCh37 Chromosome 2, 234669410: 234669410
45 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh38 Chromosome 2, 233772279: 233772279
46 UGT1A1 NM_000463.2(UGT1A1): c.1322T> C (p.Met441Thr) single nucleotide variant Uncertain significance rs202172337 GRCh37 Chromosome 2, 234680925: 234680925
47 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh38 Chromosome 2, 233772898: 233772898
48 UGT1A1 NM_000463.2(UGT1A1): c.*339G> C single nucleotide variant Benign rs1042640 GRCh37 Chromosome 2, 234681544: 234681544
49 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh38 Chromosome 2, 233772760: 233772760
50 UGT1A1 NM_000463.2(UGT1A1): c.*201G> A single nucleotide variant Uncertain significance rs541532523 GRCh37 Chromosome 2, 234681406: 234681406

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:

38
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 OTC UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
2
Show member pathways
12.92 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
3
Show member pathways
12.63 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
4 12.37 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
5
Show member pathways
12.18 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
6 11.96 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7
Show member pathways
11.63 UGT1A1 UGT1A9
8
Show member pathways
11.56 UGT1A1 UGT1A4 UGT1A6 UGT1A9
9
Show member pathways
11.55 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
10 11.39 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11
Show member pathways
11.37 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
12 11.17 UGT1A1 UGT1A4 UGT1A6 UGT1A9
13
Show member pathways
11.15 UGT1A4 UGT1A8
14
Show member pathways
11.1 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
15 10.94 UGT1A4 UGT1A6 UGT1A8 UGT1A9
16
Show member pathways
10.93 UGT1A1 UGT1A9
17 10.68 UGT1A4 UGT1A9
18
Show member pathways
10.55 UGT1A1 UGT1A4 UGT1A6 UGT1A8 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 GO:0005783 9.55 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
2 endoplasmic reticulum membrane GO:0005789 9.35 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
3 intracellular membrane-bounded organelle GO:0043231 9.02 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.51 UGT1A1 UGT1A8
2 retinoic acid metabolic process GO:0042573 9.5 UGT1A1 UGT1A8 UGT1A9
3 xenobiotic metabolic process GO:0006805 9.49 UGT1A6 UGT1A9
4 liver development GO:0001889 9.48 OTC UGT1A1
5 negative regulation of catalytic activity GO:0043086 9.46 UGT1A1 UGT1A8
6 cellular glucuronidation GO:0052695 9.46 UGT1A1 UGT1A4 UGT1A6 UGT1A9
7 heme catabolic process GO:0042167 9.43 UGT1A1 UGT1A4
8 flavone metabolic process GO:0051552 9.43 UGT1A1 UGT1A8 UGT1A9
9 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
10 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
11 xenobiotic glucuronidation GO:0052697 9.35 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
12 flavonoid glucuronidation GO:0052696 9.02 UGT1A1 UGT1A4 UGT1A6 UGT1A8 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 9.88 OTC UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
2 protein homodimerization activity GO:0042803 9.83 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
3 protein heterodimerization activity GO:0046982 9.77 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.72 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.65 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
6 glucuronosyltransferase activity GO:0015020 9.55 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
7 enzyme inhibitor activity GO:0004857 9.48 UGT1A1 UGT1A8
8 steroid binding GO:0005496 9.46 UGT1A1 UGT1A8
9 retinoic acid binding GO:0001972 9.35 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9
10 UDP-glycosyltransferase activity GO:0008194 9.02 UGT1A1 UGT1A4 UGT1A6 UGT1A8 UGT1A9

Sources for Crigler-Najjar Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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