Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype.
|
31142299 |
2019 |
Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
In patients with complete UGT1A1 deficiency (type 1 CNS [CNS-I]), unconjugated bilirubin levels increase 3-6 mg/dL/day during the newborn period and reach neurologically dangerous levels between 5 and 14 days of age.
|
31495946 |
2019 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese.
|
31247186 |
2019 |
Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Gunn rat, a Crigler-Najjar syndrome model animal lacking UDP-glucuronosyltransferase (UGT1A1), was used as recipient.
|
30985583 |
2019 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe the pathophysiology, treatment, and outcome of Crigler-Najjar type 1 syndrome (CN1) in 28 UGT1A1 c.222C>A homozygotes followed for 520 aggregate patient-years.
|
31553814 |
2019 |
Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Crigler-Najjar syndrome type 1 represents the extreme severe end of the spectrum with complete absence of hepatic bilirubin uridine diphosphoglucuronate glucuronosyltransferase (UGT1A1).
|
31145902 |
2019 |
Crigler Najjar syndrome, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Crigler-Najjar syndrome is an inherited disorder of bilirubin metabolism that is caused by the absence of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) activity.
|
30112420 |
2018 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Crigler-Najjar syndrome type I (CNI) arises from biallelic variants of UGT1A1 that abrogate uridine diphosphate glucuronosyltransferase (UGT1A1) activity resulting in unconjugated hyperbilirubinemia.
|
29176474 |
2018 |
Crigler Najjar syndrome, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism that occurs when the liver's uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) enzyme activity is partially or completely absent.
|
29448836 |
2018 |
Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Pfam database, SWISS-model, and Pymol were used for UGT1A1 protein domain analysis and protein modeling for assessing the effect of novel missense variants on protein structure.Seventy four cases, including 21 prolonged unconjugated hyperbilirubinemia (PUCH), 30 Gilbert syndrome (GS), 22 Crigler-Najjar syndrome type II (CNS-II), and 1 Crigler-Najjar syndrome type I (CNS-I) phenotypes were analyzed.
|
30544479 |
2018 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome.
|
30285761 |
2018 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the UGT1A1 gene are responsible for hyperbilirubinemia syndromes including Crigler-Najjar type 1 and 2 and Gilbert syndrome.
|
29085579 |
2017 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The presence of two UGT1A1 variants (consistent with Gilbert or Crigler-Najjar syndrome) occurred less frequently in neonates (aged ≤28 days) than older children (aged 1-18 years) (31.3% in neonates vs. 85.1%, p < 0.0001), and among neonates there was no significant difference in mean total bilirubin between those with two UGT1A1 variants and those without (p = 0.47).
|
28213806 |
2017 |
Crigler Najjar syndrome, type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The Gunn rat is a molecular and metabolic model of Crigler-Najjar syndrome type 1, which is characterized by lifelong unconjugated hyperbilirubinemia due to the lack of uridinediphosphoglucuronate glucuronosyltransferase-1 (UGT1A1)-mediated bilirubin glucuronidation.
|
27830550 |
2017 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations in the UPD‑glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene on chromosome 2q37.
|
26676689 |
2016 |
Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Role of brain cytochrome P450 mono-oxygenases in bilirubin oxidation-specific induction and activity.
|
25370011 |
2016 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the UGT1A1 gene cause Crigler-Najjar syndrome (CN), which causes non-hemolytic unconjugated hyperbilirubinemia, and is categorized as CN1 and CN2 according to the severity of bilirubin levels.
|
25966095 |
2015 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
|
26697581 |
2015 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we present a patient with Crigler-Najjar syndrome with a completely normal UGT1A1 coding region.
|
26220753 |
2015 |
Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Therefore, we explored whether transplantation of hepatocyte-like cells (iHeps) differentiated from human induced pluripotent stem cells (iPSCs) could ameliorate inherited liver diseases. iPSCs reprogrammed from human skin fibroblasts were differentiated to iHeps, which were transplanted into livers of uridinediphosphoglucuronate glucuronosyltransferase-1 (UGT1A1)-deficient Gunn rats, a model of Crigler-Najjar syndrome 1 (CN1), where elevated unconjugated bilirubin causes brain injury and death.
|
26074313 |
2015 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
|
26697581 |
2015 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a novel homozygous mutation of UGT1A1 in a female Thai infant who was diagnosed with CN1, and her parents were found to be heterozygous carriers.
|
25729974 |
2015 |
Crigler Najjar syndrome, type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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 |
Crigler Najjar syndrome, type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The present study extends the spectrum of UGT1A1 gene mutations and may be helpful in the diagnosis of Crigler-Najjar syndrome and Gilbert syndrome.
|
23992562 |
2013 |