Crigler-Najjar Syndrome, Type I (CN1)

Alias:
Crigler-Najjar Syndrome
Crigler-Najjar Syndrome Type 1
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency
Bilirubin Udp Glucuronyl Transferase Deficiency
Bilirubin-Ugt Deficiency Type 1
Bilirubin-Ugt Deficiency
Crigler Najjar Syndrome
Familial Nonhemolytic Unconjugated Hyperbilirubinemia
Bilirubin Glucuronosyltransferase Deficiency
Hereditary Unconjugated Hyperbilirubinaemia
Hereditary Unconjugated Hyperbilirubinemia
Hyperbilirubinemia, Crigler-Najjar Type I
Congenital Familial Nonhemolytic Jaundice
Deficiency of Glucuronosyltransferase
Udp Glucuronyl Transferase Deficiency
Crigler-Najjar Disease or Syndrome
Glucuronyl Transferase Deficiency
Glucuronyltransferase Deficiency
Crigler Najjar Syndrome, Type 1
Cns - [crigler-Najjar Syndrome]
Crigler-Najjar Syndrome Type I
Crigler-Najjar Syndrome 1
Ugt Deficiency
Hblrcn1
Cn-I
Cn1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Crigler-Najjar Syndrome, Type I, also known as crigler-najjar syndrome, is related to crigler-najjar syndrome, type ii and cardiomyopathy, dilated, with hypergonadotropic hypogonadism. 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 Metabolism and Nuclear receptors meta-pathway. The drugs Carbamide peroxide and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include Liver and brain, and related phenotypes are abnormality of the liver and jaundice
Related ID:
MESH:D003414
ICD11:291439191

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/1000000
48
204
43

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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