Details of Disease

General Information of Disease (ID: DISB9PPH)

Disease Name Crigler-Najjar syndrome type 2
Synonyms
Crigler-Najjar syndrome, type 2; Crigler Najjar syndrome, type 2; hyperbilirubinemia, Crigler-Najjar type 2; Crigler-Najjar syndrome, type II; bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; hereditary unconjugated hyperbilirubinemia type 2; UGT deficiency type 2; bilirubin-UGT deficiency type 2; Arias syndrome
Definition
Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.
Disease Hierarchy
DISDZ1YS: Crigler-Najjar syndrome
DISB9PPH: Crigler-Najjar syndrome type 2
Disease Identifiers
MONDO ID
MONDO_0011725
MESH ID
C536213
UMLS CUI
C2931132
OMIM ID
606785
MedGen ID
419718
Orphanet ID
79235
SNOMED CT ID
68067009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UGT1A1 OTH1C8OJ Definitive Autosomal recessive [1]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
UGT1A1 TT34ZAF Strong Biomarker [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
UGT1A1 DEYGVN4 Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.Medicine (Baltimore). 2018 Dec;97(49):e13576. doi: 10.1097/MD.0000000000013576.