Crigler-Najjar syndrome

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Information
Disease name
Crigler-Najjar syndrome
Disease ID
DOID:3803
Description
"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)." [url:https\://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00461799 Completed N/A Orlistat Treatment of Crigler-Najjar Disease September 2003 January 2004
NCT03078881 Completed Clinical Assessment Study in Crigler-Najjar Syndrome March 10, 2017 January 23, 2019
NCT03466463 Recruiting N/A Gene Therapy for Severe Crigler Najjar Syndrome March 19, 2018 March 30, 2030
NCT05687474 Recruiting Baby Detect : Genomic Newborn Screening September 1, 2022 August 31, 2025
NCT03223194 Terminated Phase 1 Gene Transfer Clinical Study in Crigler-Najjar Syndrome September 8, 2017 February 11, 2021
NCT03343756 Terminated HepaStem Long-Term Safety Registry April 4, 2018 May 23, 2024
Disase is a (Disease Ontology)
DOID:2741
Cross Reference ID (Disease Ontology)
MESH:D003414
Cross Reference ID (Disease Ontology)
MIM:218800
Cross Reference ID (Disease Ontology)
ORDO:205
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:8933000
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0010324
Exact Synonym (Disease Ontology)
Bilirubin UDP glucuronyl transferase deficiency
Exact Synonym (Disease Ontology)
Crigler Najjar syndrome
Exact Synonym (Disease Ontology)
Crigler-Najjar syndrome, type I
OrphaNumber from OrphaNet (Orphanet)
205
ICD10 preferred id (Insert disease from ICD10)
D0003926
ICD10 class code (Insert disease from ICD10)
E80.5
MeSH unique ID (MeSH (Medical Subject Headings))
D003414